#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
SKI	6497	broad.mit.edu	37	1	2160689	2160689	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:2160689A>T	ENST00000378536.4	+	1	556	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	162					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGAGATCCTCAAAGTCATGGG	0.662																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3		NA																	0				lung(1)|central_nervous_system(1)	2						c.(484-486)AAA>TAA		v-ski sarcoma viral oncogene homolog							18.0	14.0	15.0					1																	2160689		2190	4284	6474	SO:0001587	stop_gained	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160689A>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.484A>T	1.37:g.2160689A>T	ENSP00000367797:p.Lys162*						p.K162*	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	556	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		162					Q5SYT7	Nonsense_Mutation	SNP	ENST00000378536.4	37	c.484A>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	A	39	7.849125	0.98522	.	.	ENSG00000157933	ENST00000378536	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8701	12.3242	0.55001	1.0:0.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000367797:K162X	K	+	1	0	SKI	2150549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.958000	0.76025	1.510000	0.48803	0.323000	0.21402	AAA		0.662	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		17	5	0	0	0	0	17	5				
CHD5	26038	broad.mit.edu	37	1	6188634	6188634	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:6188634T>A	ENST00000262450.3	-	24	3754	c.3655A>T	c.(3655-3657)Atc>Ttc	p.I1219F	CHD5_ENST00000378021.1_Missense_Mutation_p.I76F	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACATCAGGGATGGGTGTGACC	0.632																																						uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(3655-3657)ATC>TTC		chromodomain helicase DNA binding protein 5							56.0	57.0	57.0					1																	6188634		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6188634T>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3655A>T	1.37:g.6188634T>A	ENSP00000262450:p.Ile1219Phe					CHD5_uc001alz.1_Missense_Mutation_p.I76F|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.I1219F	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	24	3755	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1219					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3655A>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736693	0.49045	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90676	-2.71;2.23	4.48	-0.996	0.10218	.	0.903717	0.09318	N	0.818732	T	0.79381	0.4436	N	0.24115	0.695	0.33409	D	0.578414	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68420	-0.5413	10	0.21014	T	0.42	-10.6142	3.2934	0.06957	0.2925:0.3676:0.0:0.34	.	1219;76	Q8TDI0;Q5TG85	CHD5_HUMAN;.	F	1219;735;76;627;627;76	ENSP00000262450:I1219F;ENSP00000367260:I76F	ENSP00000262450:I1219F	I	-	1	0	CHD5	6111221	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	1.088000	0.30877	0.150000	0.19136	0.260000	0.18958	ATC		0.632	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		21	47	0	0	0	0	21	47				
NMNAT1	64802	broad.mit.edu	37	1	10035807	10035807	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:10035807G>T	ENST00000377205.1	+	3	417	c.273G>T	c.(271-273)gaG>gaT	p.E91D	NMNAT1_ENST00000403197.1_Missense_Mutation_p.E91D	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	91					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGAAGGAGTGGAAAGAGA	0.413																																						uc001aqp.2		NA																	0					0						c.(271-273)GAG>GAT		nicotinamide mononucleotide adenylyltransferase							139.0	132.0	134.0					1																	10035807		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10035807G>T	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.273G>T	1.37:g.10035807G>T	ENSP00000366410:p.Glu91Asp						p.E91D	NM_022787	NP_073624	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	3	417	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	91					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.273G>T	CCDS108.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789202	0.31685	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97328	-4.34;-4.34	4.93	-3.63	0.04529	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.414378	0.24422	N	0.038676	D	0.90748	0.7096	N	0.21324	0.655	0.45837	D	0.998707	B	0.19331	0.035	B	0.28139	0.086	T	0.74990	-0.3475	10	0.19147	T	0.46	-2.0112	7.2406	0.26094	0.3093:0.423:0.2678:0.0	.	91	Q9HAN9	NMNA1_HUMAN	D	91	ENSP00000385131:E91D;ENSP00000366410:E91D	ENSP00000366410:E91D	E	+	3	2	NMNAT1	9958394	0.349000	0.24870	0.931000	0.37212	0.820000	0.46376	-0.289000	0.08365	-0.671000	0.05274	-0.189000	0.12847	GAG		0.413	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			46	103	1	0	2.72e-11	3.46e-11	46	103				
TMEM82	388595	broad.mit.edu	37	1	16073407	16073407	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:16073407T>C	ENST00000375782.1	+	5	941	c.803T>C	c.(802-804)gTg>gCg	p.V268A	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	268	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCAGACGGTGCTGGTGCGC	0.682																																						uc001axc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(802-804)GTG>GCG		transmembrane protein 82							52.0	45.0	47.0					1																	16073407		2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16073407T>C		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.803T>C	1.37:g.16073407T>C	ENSP00000364938:p.Val268Ala						p.V268A	NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	941	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	268			Leu-rich.|Helical; (Potential).		B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.803T>C	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334523	0.81801	.	.	ENSG00000162460	ENST00000375782	T	0.60171	0.21	4.8	4.8	0.61643	.	0.067171	0.64402	D	0.000016	T	0.64994	0.2649	M	0.65498	2.005	0.49915	D	0.999831	P	0.51791	0.948	P	0.50314	0.637	T	0.70317	-0.4905	10	0.66056	D	0.02	-15.4128	14.1708	0.65508	0.0:0.0:0.0:1.0	.	268	A0PJX8	TMM82_HUMAN	A	268	ENSP00000364938:V268A	ENSP00000364938:V268A	V	+	2	0	TMEM82	15945994	1.000000	0.71417	0.999000	0.59377	0.687000	0.40016	6.901000	0.75693	2.021000	0.59480	0.379000	0.24179	GTG		0.682	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		17	10	0	0	0	0	17	10				
CAPZB	832	broad.mit.edu	37	1	19712005	19712005	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:19712005G>T	ENST00000375142.1	-	3	255	c.209C>A	c.(208-210)tCc>tAc	p.S70Y	CAPZB_ENST00000264203.3_Missense_Mutation_p.S96Y|CAPZB_ENST00000375144.1_Missense_Mutation_p.S58Y|CAPZB_ENST00000264202.6_Missense_Mutation_p.S70Y|CAPZB_ENST00000401084.2_Missense_Mutation_p.S70Y|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Missense_Mutation_p.S99Y	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TCACCTATAGGAGTCCCCATC	0.572																																						uc010ocz.1		NA																	0					0						c.(295-297)TCC>TAC		F-actin capping protein beta subunit							91.0	91.0	91.0					1																	19712005		2009	4177	6186	SO:0001583	missense	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712005G>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.209C>A	1.37:g.19712005G>T	ENSP00000364284:p.Ser70Tyr					CAPZB_uc001bce.2_Missense_Mutation_p.S70Y|CAPZB_uc009vpk.2_Missense_Mutation_p.S96Y|CAPZB_uc001bcd.2_Missense_Mutation_p.S58Y	p.S99Y	NM_004930	NP_004921	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	3	724	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	70					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.296C>A	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717634	0.89205	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711;ENST00000457768	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.92458	0.5975	9	0.87932	D	0	-7.1937	18.4213	0.90591	0.0:0.0:1.0:0.0	.	99;96;70;58	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	Y	70;96;58;70;99;132;70;58;42	.	ENSP00000264202:S70Y	S	-	2	0	CAPZB	19584592	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.971000	0.93419	2.698000	0.92095	0.561000	0.74099	TCC		0.572	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			17	52	1	0	9.17e-09	1.13e-08	17	52				
HSPG2	3339	broad.mit.edu	37	1	22205106	22205106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:22205106G>A	ENST00000374695.3	-	19	2601	c.2522C>T	c.(2521-2523)gCc>gTc	p.A841V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	841	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	TGGGGCACAGGCGTCACATGT	0.627																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2521-2523)GCC>GTC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						54.0	53.0	54.0					1																	22205106		2203	4299	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22205106G>A	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.2522C>T	1.37:g.22205106G>A	ENSP00000363827:p.Ala841Val					HSPG2_uc009vqd.2_Missense_Mutation_p.A842V	p.A841V	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)	19	2562	-		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)	841			Laminin EGF-like 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2522C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858050	0.71834	.	.	ENSG00000142798	ENST00000374695	T	0.62639	0.01	5.44	5.44	0.79542	EGF-like, laminin (4);	0.000000	0.37669	N	0.001985	T	0.72399	0.3455	L	0.46157	1.445	0.44352	D	0.997249	D	0.76494	0.999	D	0.83275	0.996	T	0.73962	-0.3817	10	0.66056	D	0.02	.	12.4882	0.55885	0.0:0.1682:0.8318:0.0	.	841	P98160	PGBM_HUMAN	V	841	ENSP00000363827:A841V	ENSP00000363827:A841V	A	-	2	0	HSPG2	22077693	0.999000	0.42202	0.102000	0.21198	0.886000	0.51366	4.482000	0.60257	2.530000	0.85305	0.555000	0.69702	GCC		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		14	21	0	0	0	0	14	21				
AGO1	26523	broad.mit.edu	37	1	36379547	36379547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:36379547C>T	ENST00000373204.4	+	13	1900	c.1687C>T	c.(1687-1689)Ctc>Ttc	p.L563F	AGO1_ENST00000373206.1_Missense_Mutation_p.L488F	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	563	Interaction with guide RNA.|Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CAACCTCTGCCTCAAGATCAA	0.507																																						uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(1687-1689)CTC>TTC		eukaryotic translation initiation factor 2C, 1							183.0	145.0	158.0					1																	36379547		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36379547C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1687C>T	1.37:g.36379547C>T	ENSP00000362300:p.Leu563Phe					EIF2C1_uc001bzk.2_Missense_Mutation_p.L488F|EIF2C1_uc009vuy.2_RNA	p.L563F	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			13	1900	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	563			Piwi.		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1687C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496537	0.85069	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.35048	1.33;1.33	5.65	4.74	0.60224	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.065861	0.64402	D	0.000008	T	0.72890	0.3517	H	0.97540	4.025	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	D	0.83420	0.0032	10	0.72032	D	0.01	-21.2972	14.6027	0.68453	0.0:0.9299:0.0:0.0701	.	563	Q9UL18	AGO1_HUMAN	F	488;563	ENSP00000362302:L488F;ENSP00000362300:L563F	ENSP00000362300:L563F	L	+	1	0	EIF2C1	36152134	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.070000	0.71220	1.409000	0.46915	-0.236000	0.12185	CTC		0.507	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			62	117	0	0	0	0	62	117				
MACF1	23499	broad.mit.edu	37	1	39720017	39720017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:39720017G>T	ENST00000372915.3	+	4	507	c.420G>T	c.(418-420)caG>caT	p.Q140H	MACF1_ENST00000317713.7_Missense_Mutation_p.Q140H|RP11-420K8.1_ENST00000289890.7_RNA|MACF1_ENST00000361689.2_Missense_Mutation_p.Q140H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q135H|MACF1_ENST00000536367.1_Missense_Mutation_p.Q103H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q140H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q172H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q140H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	140	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATGTGCAGATTGCCCTGG	0.478																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(418-420)CAG>CAT		microfilament and actin filament cross-linker							129.0	114.0	119.0					1																	39720017		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39720017G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.420G>T	1.37:g.39720017G>T	ENSP00000362006:p.Gln140His					MACF1_uc001cda.1_Missense_Mutation_p.Q48H|MACF1_uc010oit.1_Missense_Mutation_p.Q103H	p.Q140H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		6	625	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	140			Actin-binding.|CH 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.420G>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.105238	0.77096	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000494012;ENST00000536367	D;D;D;D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74;-3.74	5.33	4.41	0.53225	.	.	.	.	.	D	0.96898	0.8987	M	0.64170	1.965	0.58432	D	0.999995	D;P;D	0.89917	0.994;0.768;1.0	P;B;D	0.76575	0.888;0.278;0.988	D	0.97205	0.9867	9	0.87932	D	0	.	13.9309	0.63994	0.0757:0.0:0.9243:0.0	.	103;140;105	B4E2T3;F8W8Q1;Q9UPN3-3	.;.;.	H	140;140;140;156;140;140;98;103;103	ENSP00000439537:Q140H;ENSP00000362006:Q140H;ENSP00000354573:Q140H;ENSP00000313438:Q140H;ENSP00000444364:Q140H;ENSP00000435070:Q98H;ENSP00000435892:Q103H;ENSP00000440369:Q103H	ENSP00000313438:Q140H	Q	+	3	2	MACF1	39492604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.994000	0.49433	1.216000	0.43427	0.491000	0.48974	CAG		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		35	80	1	0	4.34e-07	5.2e-07	35	80				
LEPRE1	64175	broad.mit.edu	37	1	43228142	43228142	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:43228142T>C	ENST00000296388.5	-	2	521	c.470A>G	c.(469-471)aAc>aGc	p.N157S	LEPRE1_ENST00000236040.4_Missense_Mutation_p.N157S|LEPRE1_ENST00000397054.3_Missense_Mutation_p.N157S			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	157					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCAACTTGTTGATCTAAGA	0.458																																						uc001chv.2		NA																	0				ovary(3)|lung(1)	4						c.(469-471)AAC>AGC		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						109.0	107.0	108.0					1																	43228142		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43228142T>C	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.470A>G	1.37:g.43228142T>C	ENSP00000296388:p.Asn157Ser					LEPRE1_uc001chw.2_Missense_Mutation_p.N157S|LEPRE1_uc001chx.3_Missense_Mutation_p.N157S|LEPRE1_uc001chy.3_Missense_Mutation_p.N157S	p.N157S	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			2	583	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	157			TPR 2.		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.470A>G	CCDS472.2	.	.	.	.	.	.	.	.	.	.	T	23.7	4.452148	0.84209	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.75938	-0.98;-0.98;-0.98	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.041954	0.85682	D	0.000000	D	0.82797	0.5115	M	0.77103	2.36	0.48341	D	0.999631	D;D;D;D	0.67145	0.996;0.996;0.962;0.986	P;P;P;P	0.56343	0.796;0.796;0.611;0.611	D	0.84321	0.0516	10	0.51188	T	0.08	-43.0775	13.9636	0.64196	0.0:0.0:0.0:1.0	.	157;157;22;157	Q32P28-2;Q32P28-3;B4DNM8;Q32P28	.;.;.;P3H1_HUMAN	S	157;157;157;22	ENSP00000380245:N157S;ENSP00000236040:N157S;ENSP00000296388:N157S	ENSP00000236040:N157S	N	-	2	0	LEPRE1	43000729	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.800000	0.69108	2.187000	0.69744	0.460000	0.39030	AAC		0.458	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		46	92	0	0	0	0	46	92				
USP24	23358	broad.mit.edu	37	1	55599818	55599818	+	Silent	SNP	C	C	T	rs370042721		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:55599818C>T	ENST00000294383.6	-	30	3305	c.3306G>A	c.(3304-3306)cgG>cgA	p.R1102R	USP24_ENST00000407756.1_Silent_p.R942R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1102					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCAGAAGCTTCCGTACTCGTA	0.333																																						uc001cyg.3		NA																	0				ovary(6)|kidney(6)|breast(1)	13						c.(2824-2826)CGG>CGA		ubiquitin specific protease 24		C		0,3670		0,0,1835	50.0	47.0	48.0		3306	-2.8	1.0	1		48	1,8173		0,1,4086	no	coding-synonymous	USP24	NM_015306.2		0,1,5921	TT,TC,CC		0.0122,0.0,0.0084		1102/2621	55599818	1,11843	1835	4087	5922	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55599818C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3306G>A	1.37:g.55599818C>T							p.R942R	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			27	2826	-			1102					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.2826G>A	CCDS44154.2																																																																																				0.333	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			18	32	0	0	0	0	18	32				
C1orf168	199920	broad.mit.edu	37	1	57257960	57257960	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57257960C>A	ENST00000343433.6	-	2	606	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	176										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGTAAGCCCCATGCCTTTT	0.488																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(526-528)GGG>TGG		hypothetical protein LOC199920							99.0	97.0	98.0					1																	57257960		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57257960C>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.526G>T	1.37:g.57257960C>A	ENSP00000345972:p.Gly176Trp					C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.G176W	p.G176W	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	932	-			176					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.526G>T	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279921	0.40294	.	.	ENSG00000187889	ENST00000343433	T	0.35789	1.29	4.55	0.617	0.17619	.	0.746043	0.12005	N	0.508440	T	0.41627	0.1167	L	0.29908	0.895	0.09310	N	1	D;D	0.64830	0.992;0.994	D;P	0.71870	0.975;0.88	T	0.20605	-1.0270	10	0.72032	D	0.01	-1.1159	6.3898	0.21581	0.0:0.5867:0.0:0.4133	.	176;176	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	W	176	ENSP00000345972:G176W	ENSP00000345972:G176W	G	-	1	0	C1orf168	57030548	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.108000	0.10857	0.263000	0.21812	-0.244000	0.11960	GGG		0.488	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		66	120	1	0	1.17e-41	1.74e-41	66	120				
C8B	732	broad.mit.edu	37	1	57420448	57420448	+	Missense_Mutation	SNP	G	G	C	rs151302643	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:57420448G>C	ENST00000371237.4	-	4	510	c.444C>G	c.(442-444)gaC>gaG	p.D148E	C8B_ENST00000535057.1_Missense_Mutation_p.D86E|C8B_ENST00000543257.1_Missense_Mutation_p.D96E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	148	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCTGACTGGTCTCCACAGT	0.448																																						uc001cyp.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(442-444)GAC>GAG		complement component 8, beta polypeptide		G	GLU/ASP	0,4406		0,0,2203	152.0	133.0	140.0		444	4.5	1.0	1	dbSNP_134	140	1,8599	2.2+/-6.3	0,1,4299	yes	missense	C8B	NM_000066.2	45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	148/592	57420448	1,13005	2203	4300	6503	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57420448G>C	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.444C>G	1.37:g.57420448G>C	ENSP00000360281:p.Asp148Glu					C8B_uc010oon.1_Missense_Mutation_p.D86E|C8B_uc010ooo.1_Missense_Mutation_p.D96E	p.D148E	NM_000066	NP_000057	P07358	CO8B_HUMAN			4	511	-			148			LDL-receptor class A.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.444C>G	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964709	0.74131	0.0	1.16E-4	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.97505	-4.41;-4.41;-4.41	5.63	4.5	0.54988	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	M	0.90542	3.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97822	1.0257	10	0.66056	D	0.02	-37.585	8.0402	0.30517	0.2355:0.0:0.7645:0.0	.	96;86;148	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	E	148;96;86	ENSP00000360281:D148E;ENSP00000442548:D96E;ENSP00000440113:D86E	ENSP00000360281:D148E	D	-	3	2	C8B	57193036	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.801000	0.47908	2.826000	0.97356	0.655000	0.94253	GAC		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			39	98	0	0	0	0	39	98				
DOCK7	85440	broad.mit.edu	37	1	62954718	62954718	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:62954718C>A	ENST00000340370.5	-	41	5304	c.5287G>T	c.(5287-5289)Gtt>Ttt	p.V1763F	DOCK7_ENST00000251157.5_Missense_Mutation_p.V1785F	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1794	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTTCATTAACTGCTTCATAC	0.299																																						uc001daq.2		NA																	0				ovary(2)	2						c.(5353-5355)GTT>TTT		dedicator of cytokinesis 7							93.0	93.0	93.0					1																	62954718		2202	4300	6502	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62954718C>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5287G>T	1.37:g.62954718C>A	ENSP00000340742:p.Val1763Phe					DOCK7_uc001dan.2_Missense_Mutation_p.V1646F|DOCK7_uc001dao.2_Missense_Mutation_p.V1646F|DOCK7_uc001dap.2_Missense_Mutation_p.V1763F|DOCK7_uc001dam.2_Missense_Mutation_p.V965F|DOCK7_uc010oov.1_Missense_Mutation_p.V524F	p.V1785F	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			42	5387	-			1794			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.5353G>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574135|4.574135	0.86542|0.86542	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05580	.|3.42;3.42	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27384|0.27384	0.0672|0.0672	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	.|P;P;P;P;D;P	.|0.56287	.|0.848;0.889;0.906;0.906;0.975;0.896	.|P;P;P;P;P;P	.|0.59643	.|0.536;0.726;0.771;0.689;0.861;0.8	T|T	0.01105|0.01105	-1.1450|-1.1450	5|10	.|0.87932	.|D	.|0	.|.	19.6929|19.6929	0.96009|0.96009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1794;1785;1763;1754;1754;1785	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	I|F	956|1794;1785;1763;524	.|ENSP00000251157:V1785F;ENSP00000340742:V1763F	.|ENSP00000251157:V1785F	S|V	-|-	2|1	0|0	DOCK7|DOCK7	62727306|62727306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.487000|7.487000	0.81328|0.81328	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	AGT|GTT		0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		16	47	1	0	4.15e-12	5.33e-12	16	47				
TNNI3K	51086	broad.mit.edu	37	1	75005943	75005943	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:75005943C>A	ENST00000326637.3	+	24	2428	c.2377C>A	c.(2377-2379)Ctg>Atg	p.L793M	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L907M|TNNI3K_ENST00000465473.1_3'UTR|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L894M	NM_015978.2	NP_057062.1			TNNI3 interacting kinase									p.L793M(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CTCTCAAGGTCTGTCTTTGGA	0.348																																						uc001dgf.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2377-2379)CTG>ATG		TNNI3 interacting kinase isoform b							98.0	97.0	98.0					1																	75005943		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:75005943C>A	AF116826	CCDS664.1, CCDS44161.1	1p31.1	2014-09-17				ENSG00000116783			19661	protein-coding gene	gene with protein product		613932				12721663	Standard	NM_015978		Approved	CARK		Q59H18	OTTHUMG00000171318	ENST00000326637.3:c.2377C>A	1.37:g.75005943C>A	ENSP00000322251:p.Leu793Met					TNNI3K_uc001dge.1_Missense_Mutation_p.L894M	p.L793M	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			24	2428	+			793						Missense_Mutation	SNP	ENST00000326637.3	37	c.2377C>A	CCDS664.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580201	0.28180	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.76578	-1.03;-1.03;-1.0	5.25	3.39	0.38822	.	0.159187	0.41938	D	0.000796	T	0.53318	0.1789	L	0.29908	0.895	0.29866	N	0.827235	B;P	0.39624	0.38;0.681	B;B	0.42593	0.146;0.392	T	0.50065	-0.8871	10	0.48119	T	0.1	.	9.3726	0.38264	0.0:0.8324:0.0:0.1676	.	793;894	Q59H18;Q59H18-1	TNI3K_HUMAN;.	M	894;894;793	ENSP00000450895:L894M;ENSP00000359928:L894M;ENSP00000322251:L793M	ENSP00000322251:L793M	L	+	1	2	RP11-653A5.2;AC093158.1	74778531	1.000000	0.71417	0.979000	0.43373	0.192000	0.23643	2.326000	0.43849	0.907000	0.36646	-0.140000	0.14226	CTG		0.348	TNNI3K-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026432.1	NM_015978		22	61	1	0	5.35e-11	6.76e-11	22	61				
FUBP1	8880	broad.mit.edu	37	1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:78429830C>A	ENST00000370768.2	-	12	1039	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E320*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"""F, N"""		oligodendroglioma																																	uc001dii.2		NA		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					0				central_nervous_system(2)|lung(1)	3						c.(958-960)GAA>TAA		far upstream element-binding protein							213.0	205.0	208.0					1																	78429830		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429830C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.958G>T	1.37:g.78429830C>A	ENSP00000359804:p.Glu320*					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.E341*	p.E320*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			12	1047	-			320			KH 3.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.958G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901936	0.92035	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	.	.	.	5.81	5.81	0.92471	.	0.188815	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.2449	20.0643	0.97702	0.0:1.0:0.0:0.0	.	.	.	.	X	319;320;320;319;341	.	ENSP00000294623:E319X	E	-	1	0	FUBP1	78202418	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.818000	0.86416	2.737000	0.93849	0.650000	0.86243	GAA		0.348	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		70	161	1	0	8.65e-54	1.3e-53	70	161				
COL24A1	255631	broad.mit.edu	37	1	86591713	86591713	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:86591713C>A	ENST00000370571.2	-	3	672	c.306G>T	c.(304-306)ttG>ttT	p.L102F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L102F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	102					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACGGCTGCCCCAAGTTGACTG	0.388																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(304-306)TTG>TTT		collagen, type XXIV, alpha 1 precursor							61.0	58.0	59.0					1																	86591713		1824	4098	5922	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591713C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.306G>T	1.37:g.86591713C>A	ENSP00000359603:p.Leu102Phe					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.L102F	p.L102F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	348	-			102			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.306G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	c	5.472	0.272055	0.10349	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02395	4.31;4.31	5.82	2.2	0.27929	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.354721	0.16621	N	0.206498	T	0.00906	0.0030	L	0.38175	1.15	0.23162	N	0.998199	P;P	0.46512	0.879;0.702	P;B	0.45639	0.488;0.217	T	0.43491	-0.9388	10	0.14252	T	0.57	.	4.2082	0.10498	0.1395:0.2186:0.0:0.642	.	102;102	F8WDM8;Q17RW2	.;COOA1_HUMAN	F	102	ENSP00000359603:L102F;ENSP00000392531:L102F	ENSP00000359603:L102F	L	-	3	2	COL24A1	86364301	0.724000	0.28038	0.969000	0.41365	0.072000	0.16883	1.046000	0.30354	0.421000	0.25980	-0.285000	0.09966	TTG		0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		39	76	1	0	2.29e-25	3.29e-25	39	76				
GBP5	115362	broad.mit.edu	37	1	89726431	89726431	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:89726431C>A	ENST00000370459.3	-	11	1844	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	GBP5_ENST00000343435.5_Missense_Mutation_p.A573S|GBP5_ENST00000471171.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	573	Required for tetramerization. {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCTCTGGGCGTGCTGGAGC	0.403																																						uc001dnc.2		NA																	0				ovary(1)	1						c.(1717-1719)GCC>TCC		guanylate-binding protein 5							200.0	183.0	189.0					1																	89726431		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89726431C>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1717G>T	1.37:g.89726431C>A	ENSP00000359488:p.Ala573Ser					GBP5_uc001dnd.2_Missense_Mutation_p.A573S	p.A573S	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	12	2254	-			573					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1717G>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755968	0.31137	.	.	ENSG00000154451	ENST00000343435;ENST00000370459	T;T	0.02032	4.49;4.49	4.34	1.12	0.20585	Guanylate-binding protein, C-terminal (2);	1.002540	0.08041	N	0.995134	T	0.00496	0.0016	N	0.08118	0	0.09310	N	1	B	0.27559	0.181	B	0.31812	0.136	T	0.48305	-0.9047	10	0.87932	D	0	3.0746	1.6984	0.02867	0.1279:0.1759:0.4608:0.2354	.	573	Q96PP8	GBP5_HUMAN	S	573	ENSP00000340396:A573S;ENSP00000359488:A573S	ENSP00000340396:A573S	A	-	1	0	GBP5	89499019	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.063000	0.11655	0.129000	0.18514	-0.187000	0.12897	GCC		0.403	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		53	165	1	0	4.33e-36	6.4e-36	53	165				
COL11A1	1301	broad.mit.edu	37	1	103343706	103343706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:103343706C>A	ENST00000370096.3	-	67	5602	c.5290G>T	c.(5290-5292)Gaa>Taa	p.E1764*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.E1776*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1725*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1648*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1764	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		ACAGTCTTTTCATAGCCTTTT	0.303																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5290-5292)GAA>TAA		alpha 1 type XI collagen isoform A							78.0	73.0	75.0					1																	103343706		2203	4300	6503	SO:0001587	stop_gained	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.chr1:103343706C>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.5290G>T	1.37:g.103343706C>A	ENSP00000359114:p.Glu1764*					COL11A1_uc001duk.2_Nonsense_Mutation_p.E960*|COL11A1_uc001dum.2_Nonsense_Mutation_p.E1776*|COL11A1_uc001dun.2_Nonsense_Mutation_p.E1725*|COL11A1_uc009weh.2_Nonsense_Mutation_p.E1648*	p.E1764*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	67	5608	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1764			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.5290G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	46	12.418742	0.99666	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.36	5.36	0.76844	.	0.572135	0.19118	N	0.122273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	.	.	.	X	1764;1776;1725;984;1648	.	ENSP00000302551:E1725X	E	-	1	0	COL11A1	103116294	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.706000	0.61845	2.774000	0.95407	0.655000	0.94253	GAA		0.303	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	57	1	0	3.07e-06	3.59e-06	12	57				
WDR3	10885	broad.mit.edu	37	1	118481110	118481110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:118481110G>A	ENST00000349139.5	+	5	555	c.508G>A	c.(508-510)Gat>Aat	p.D170N	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	170						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAGTGGGAAAGATACCATGGT	0.423																																						uc010oxe.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(508-510)GAT>AAT		WD repeat-containing protein 3							124.0	124.0	124.0					1																	118481110		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118481110G>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.508G>A	1.37:g.118481110G>A	ENSP00000308179:p.Asp170Asn					WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	p.D170N	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	5	574	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	170			WD 4.			Missense_Mutation	SNP	ENST00000349139.5	37	c.508G>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422638	0.96111	.	.	ENSG00000065183	ENST00000349139	D	0.88975	-2.45	5.66	5.66	0.87406	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	D	0.96821	0.8962	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.98032	1.0377	10	0.87932	D	0	-18.635	19.7417	0.96234	0.0:0.0:1.0:0.0	.	170	Q9UNX4	WDR3_HUMAN	N	170	ENSP00000308179:D170N	ENSP00000308179:D170N	D	+	1	0	WDR3	118282633	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	9.476000	0.97823	2.658000	0.90341	0.591000	0.81541	GAT		0.423	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		27	67	0	0	0	0	27	67				
PDE4DIP	9659	broad.mit.edu	37	1	144879382	144879382	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:144879382C>A	ENST00000369354.3	-	27	4257	c.4068G>T	c.(4066-4068)aaG>aaT	p.K1356N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1356N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1312N|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K1492N|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1492N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1356				K -> R (in Ref. 4; CAD91152). {ECO:0000305}.	cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTTGATGTCCTTTCGTAGGA	0.493			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4066-4068)AAG>AAT		phosphodiesterase 4D interacting protein isoform							192.0	214.0	207.0					1																	144879382		2203	4299	6502	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879382C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4068G>T	1.37:g.144879382C>A	ENSP00000358360:p.Lys1356Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.K1312N|PDE4DIP_uc001elv.3_Missense_Mutation_p.K363N	p.K1356N	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4359	-			1356	K -> R (in Ref. 4; CAD91152).		Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4068G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667887	0.29604	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01629	4.72;4.82;4.82;4.82;4.82	5.08	4.16	0.48862	.	.	.	.	.	T	0.01061	0.0035	L	0.51422	1.61	0.53688	D	0.999971	B;P	0.40144	0.302;0.704	B;B	0.40901	0.109;0.343	T	0.63839	-0.6546	9	0.39692	T	0.17	.	7.61	0.28124	0.0:0.8141:0.0:0.1859	.	1312;1356	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1312;1356;1356;1492;1492	ENSP00000327209:K1312N;ENSP00000358360:K1356N;ENSP00000358363:K1356N;ENSP00000435654:K1492N;ENSP00000358366:K1492N	ENSP00000327209:K1312N	K	-	3	2	PDE4DIP	143590739	0.999000	0.42202	0.914000	0.36105	0.350000	0.29205	0.687000	0.25407	1.380000	0.46344	0.650000	0.86243	AAG		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		74	398	1	0	8.08e-42	1.2e-41	74	398				
TDRD10	126668	broad.mit.edu	37	1	154516995	154516995	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154516995T>A	ENST00000368480.3	+	10	882		c.e10+2		TDRD10_ENST00000479937.1_Splice_Site|TDRD10_ENST00000368482.4_Splice_Site			Q5VZ19	TDR10_HUMAN	tudor domain containing 10								nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAACAGGTGTGTGCCTGG	0.587																																						uc009wow.2		NA																	0				ovary(1)	1						c.e10+2		tudor domain containing 10 isoform a							25.0	29.0	28.0					1																	154516995		2203	4300	6503	SO:0001630	splice_region_variant	126668						nucleotide binding|RNA binding	g.chr1:154516995T>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.797+2T>A	1.37:g.154516995T>A						TDRD10_uc001ffd.2_Splice_Site_p.R266_splice|TDRD10_uc001ffe.2_Splice_Site_p.R187_splice	p.R266_splice	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	1635	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Splice_Site	SNP	ENST00000368480.3	37	c.797_splice	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542626	0.45280	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	.	.	.	3.74	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.98	0.19401	0.4252:0.0:0.0:0.5748	.	.	.	.	.	-1	.	.	.	+	.	.	TDRD10	152783619	0.949000	0.32298	0.366000	0.25914	0.552000	0.35366	1.385000	0.34408	0.028000	0.15324	0.455000	0.32223	.		0.587	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	Intron	5	14	0	0	0	0	5	14				
PYGO2	90780	broad.mit.edu	37	1	154931794	154931794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:154931794G>A	ENST00000368457.2	-	3	853	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	PYGO2_ENST00000368456.1_Nonsense_Mutation_p.Q191*|PYGO2_ENST00000483463.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	228	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAGGTCTCTGGAGAGGAGAA	0.637																																					NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2		NA																	0				skin(1)	1						c.(682-684)CAG>TAG		pygopus homolog 2							30.0	35.0	33.0					1																	154931794		2203	4300	6503	SO:0001587	stop_gained	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154931794G>A	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.682C>T	1.37:g.154931794G>A	ENSP00000357442:p.Gln228*						p.Q228*	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	888	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		228			Pro-rich.		Q8WYZ4|Q96CY2	Nonsense_Mutation	SNP	ENST00000368457.2	37	c.682C>T	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381220	0.82792	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	.	.	.	4.03	4.03	0.46877	.	0.383874	0.21678	N	0.070764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-4.3103	13.21	0.59819	0.0:0.0:1.0:0.0	.	.	.	.	X	228;191	.	ENSP00000357441:Q191X	Q	-	1	0	PYGO2	153198418	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	4.644000	0.61397	2.079000	0.62486	0.462000	0.41574	CAG		0.637	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		7	39	0	0	0	0	7	39				
ASH1L	55870	broad.mit.edu	37	1	155340374	155340374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155340374C>A	ENST00000368346.3	-	12	7261	c.6622G>T	c.(6622-6624)Gtg>Ttg	p.V2208L	ASH1L_ENST00000392403.3_Missense_Mutation_p.V2203L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2208	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGTCAATCACCATCCCACTA	0.418																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6622-6624)GTG>TTG		absent, small, or homeotic 1-like							212.0	185.0	194.0					1																	155340374		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155340374C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6622G>T	1.37:g.155340374C>A	ENSP00000357330:p.Val2208Leu					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.V2203L	p.V2208L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		12	7102	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2208			SET.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.6622G>T		.	.	.	.	.	.	.	.	.	.	C	17.38	3.374658	0.61735	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.80909	-1.43;-1.43	4.87	4.87	0.63330	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	M	0.87038	2.855	0.80722	D	1	D;D	0.57257	0.979;0.974	D;D	0.72338	0.977;0.961	D	0.91167	0.4965	10	0.72032	D	0.01	.	17.8022	0.88591	0.0:1.0:0.0:0.0	.	2208;2203	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	2208;2203	ENSP00000357330:V2208L;ENSP00000376204:V2203L	ENSP00000357330:V2208L	V	-	1	0	ASH1L	153606998	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	7.651000	0.83577	2.548000	0.85928	0.650000	0.86243	GTG		0.418	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		66	100	1	0	6.75e-32	9.86e-32	66	100				
YY1AP1	55249	broad.mit.edu	37	1	155629663	155629663	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:155629663C>A	ENST00000295566.4	-	11	2199	c.2176G>T	c.(2176-2178)Ggg>Tgg	p.G726W	YY1AP1_ENST00000355499.4_Missense_Mutation_p.G680W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G680W|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G660W|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G526W|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G680W|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G649W|YY1AP1_ENST00000311573.5_Missense_Mutation_p.G649W|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G669W|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G818W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.G798W	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	726					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTGGAGGCCCTGGGCTATGT	0.512																																						uc001fln.2		NA																	0				ovary(2)|skin(1)	3						c.(2176-2178)GGG>TGG		YY1-associated protein isoform 2							131.0	121.0	124.0					1																	155629663		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629663C>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2176G>T	1.37:g.155629663C>A	ENSP00000295566:p.Gly726Trp					YY1AP1_uc001flg.2_Missense_Mutation_p.G465W|YY1AP1_uc010pgg.1_Missense_Mutation_p.G565W|YY1AP1_uc010pgh.1_Missense_Mutation_p.G669W|YY1AP1_uc010pgi.1_Missense_Mutation_p.G818W|YY1AP1_uc001flh.2_Missense_Mutation_p.G798W|YY1AP1_uc009wqt.2_Missense_Mutation_p.G649W|YY1AP1_uc001flk.2_Missense_Mutation_p.G669W|YY1AP1_uc001fll.2_Missense_Mutation_p.G680W|YY1AP1_uc009wqv.2_Missense_Mutation_p.G397W|YY1AP1_uc001flm.2_Missense_Mutation_p.G669W|YY1AP1_uc001fli.2_Missense_Mutation_p.G680W|YY1AP1_uc009wqu.2_Missense_Mutation_p.G513W|YY1AP1_uc001flj.2_Missense_Mutation_p.G660W|YY1AP1_uc009wqw.2_Missense_Mutation_p.G649W|YY1AP1_uc001flo.2_Missense_Mutation_p.G614W|YY1AP1_uc001flp.2_Missense_Mutation_p.G680W	p.G726W	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2200	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		726					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2176G>T	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	2.690	-0.273480	0.05679	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.24538	1.89;1.89;1.9;1.89;1.89;1.86;1.88;1.89;1.9;1.9;1.85;1.9	2.57	-0.927	0.10451	.	0.663319	0.14834	N	0.295686	T	0.12220	0.0297	N	0.20685	0.6	0.09310	N	1	B;D;D;D;D	0.89917	0.015;1.0;1.0;1.0;1.0	B;D;D;D;D	0.85130	0.018;0.996;0.997;0.986;0.997	T	0.06144	-1.0843	10	0.38643	T	0.18	.	2.7272	0.05217	0.2205:0.3602:0.0:0.4193	.	818;660;726;680;798	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	W	669;680;649;680;669;798;726;680;649;660;818;526	ENSP00000352134:G669W;ENSP00000347686:G680W;ENSP00000311138:G649W;ENSP00000316079:G680W;ENSP00000355298:G669W;ENSP00000357324:G798W;ENSP00000295566:G726W;ENSP00000357314:G680W;ENSP00000385791:G649W;ENSP00000385390:G660W;ENSP00000357323:G818W;ENSP00000437926:G526W	ENSP00000295566:G726W	G	-	1	0	YY1AP1	153896287	0.001000	0.12720	0.062000	0.19696	0.019000	0.09904	0.290000	0.18975	-0.403000	0.07622	-0.657000	0.03884	GGG		0.512	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		19	83	1	0	1.5e-11	1.92e-11	19	83				
NES	10763	broad.mit.edu	37	1	156639196	156639196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:156639196G>A	ENST00000368223.3	-	4	4916	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1595	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGTGAACAGGAGCCCCTGC	0.597																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(4783-4785)CCT>CTT		nestin							75.0	71.0	72.0					1																	156639196		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639196G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4784C>T	1.37:g.156639196G>A	ENSP00000357206:p.Pro1595Leu						p.P1595L	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4917	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1595			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4784C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962410	0.34659	.	.	ENSG00000132688	ENST00000368223	D	0.89617	-2.54	4.55	4.55	0.56014	.	.	.	.	.	T	0.80701	0.4673	L	0.52573	1.65	0.09310	N	0.999997	P	0.41313	0.745	B	0.38562	0.276	T	0.76870	-0.2799	9	0.87932	D	0	.	14.0501	0.64730	0.0:0.0:1.0:0.0	.	1595	P48681	NEST_HUMAN	L	1595	ENSP00000357206:P1595L	ENSP00000357206:P1595L	P	-	2	0	NES	154905820	0.872000	0.30054	0.122000	0.21767	0.649000	0.38597	5.447000	0.66606	2.081000	0.62600	0.313000	0.20887	CCT		0.597	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		38	79	0	0	0	0	38	79				
ASTN1	460	broad.mit.edu	37	1	176853475	176853475	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853475C>A	ENST00000367654.3	-	19	3461	c.3250G>T	c.(3250-3252)Gaa>Taa	p.E1084*	ASTN1_ENST00000424564.2_Splice_Site_p.E1076*|ASTN1_ENST00000367657.3_Splice_Site_p.E1076*|ASTN1_ENST00000361833.2_Splice_Site_p.E1076*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1084	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGTGCTCACCTGTCTCCACT	0.493																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3226-3228)GAA>TAA		astrotactin isoform 1							153.0	127.0	136.0					1																	176853475		2203	4300	6503	SO:0001630	splice_region_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853475C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3250+1G>T	1.37:g.176853475C>A						ASTN1_uc001glb.1_Nonsense_Mutation_p.E1076*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1076*	p.E1076*	NM_004319	NP_004310	O14525	ASTN1_HUMAN			19	3438	-			1084			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.3226G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.219685	0.99105	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1637	19.635	0.95728	0.0:1.0:0.0:0.0	.	.	.	.	X	1076;1076;1084;1076;1076	.	.	E	-	1	0	ASTN1	175120098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.223000	0.78033	2.733000	0.93635	0.655000	0.94253	GAA		0.493	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	Nonsense_Mutation	43	90	1	0	7.71e-36	1.14e-35	43	90				
ASTN1	460	broad.mit.edu	37	1	176853589	176853589	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:176853589G>C	ENST00000367654.3	-	19	3347	c.3136C>G	c.(3136-3138)Ctt>Gtt	p.L1046V	ASTN1_ENST00000424564.2_Missense_Mutation_p.L1038V|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1038V|ASTN1_ENST00000361833.2_Missense_Mutation_p.L1038V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1046	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGACCACAAGAGTGCTGCTG	0.542																																						uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3112-3114)CTT>GTT		astrotactin isoform 1							120.0	109.0	113.0					1																	176853589		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853589G>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3136C>G	1.37:g.176853589G>C	ENSP00000356626:p.Leu1046Val					ASTN1_uc001glb.1_Missense_Mutation_p.L1038V|ASTN1_uc001gld.1_Missense_Mutation_p.L1038V	p.L1038V	NM_004319	NP_004310	O14525	ASTN1_HUMAN			19	3324	-			1046			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3112C>G		.	.	.	.	.	.	.	.	.	.	G	8.252	0.809288	0.16537	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.79	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	N	0.24115	0.695	0.58432	D	0.999992	D;D	0.61697	0.99;0.974	D;D	0.72982	0.979;0.969	T	0.16867	-1.0388	10	0.02654	T	1	-17.5699	12.5644	0.56301	0.1368:0.0:0.8632:0.0	.	1038;1038	O14525-2;B1AJS1	.;.	V	1038;1038;1046;1038;1038	ENSP00000356629:L1038V;ENSP00000354536:L1038V;ENSP00000356626:L1046V;ENSP00000395041:L1038V	ENSP00000354536:L1038V	L	-	1	0	ASTN1	175120212	1.000000	0.71417	0.922000	0.36590	0.859000	0.49053	1.960000	0.40422	1.457000	0.47850	0.655000	0.94253	CTT		0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		36	64	0	0	0	0	36	64				
BRINP2	57795	broad.mit.edu	37	1	177247890	177247890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:177247890C>T	ENST00000361539.4	+	7	1516	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	402					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)	extracellular region (GO:0005576)		p.R402C(2)									GCGCTGCCATCGCCAGCCTCG	0.617																																						uc001glf.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1204-1206)CGC>TGC		family with sequence similarity 5, member B							53.0	55.0	54.0					1																	177247890		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177247890C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1204C>T	1.37:g.177247890C>T	ENSP00000354481:p.Arg402Cys					FAM5B_uc010pna.1_Missense_Mutation_p.R152C|FAM5B_uc001glg.2_Missense_Mutation_p.R297C	p.R402C	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			7	1516	+			402					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1204C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607974	0.66558	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15372	2.43	5.39	3.36	0.38483	.	0.230912	0.38436	N	0.001681	T	0.26521	0.0648	L	0.44542	1.39	0.33909	D	0.639466	B;D;B	0.89917	0.038;1.0;0.029	B;P;B	0.62184	0.017;0.899;0.003	T	0.35201	-0.9798	10	0.72032	D	0.01	-26.6843	7.9241	0.29863	0.2778:0.6323:0.0:0.09	.	152;297;402	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	C	152;402	ENSP00000354481:R402C	ENSP00000354481:R402C	R	+	1	0	FAM5B	175514513	0.943000	0.32029	0.997000	0.53966	0.983000	0.72400	2.108000	0.41854	1.278000	0.44430	0.655000	0.94253	CGC		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		11	57	0	0	0	0	11	57				
LHX4	89884	broad.mit.edu	37	1	180240538	180240538	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:180240538C>G	ENST00000263726.2	+	4	719	c.475C>G	c.(475-477)Cgg>Ggg	p.R159G	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	159					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGGAGCTAAGCGGCCCCGGAC	0.587																																						uc001goe.1		NA																	0				ovary(1)	1						c.(475-477)CGG>GGG		LIM homeobox protein 4							103.0	105.0	105.0					1																	180240538		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180240538C>G	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.475C>G	1.37:g.180240538C>G	ENSP00000263726:p.Arg159Gly					uc001gof.1_RNA	p.R159G	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			4	698	+			159			Homeobox.		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.475C>G	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810836	0.50421	.	.	ENSG00000121454	ENST00000263726	D	0.97089	-4.24	5.28	4.29	0.51040	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059834	0.64402	D	0.000002	D	0.98027	0.9350	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.98006	1.0363	10	0.87932	D	0	.	10.2264	0.43227	0.3886:0.6114:0.0:0.0	.	159	Q969G2	LHX4_HUMAN	G	159	ENSP00000263726:R159G	ENSP00000263726:R159G	R	+	1	2	LHX4	178507161	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.228000	0.32588	2.453000	0.82957	0.561000	0.74099	CGG		0.587	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		15	97	0	0	0	0	15	97				
HMCN1	83872	broad.mit.edu	37	1	185833728	185833728	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185833728G>C	ENST00000271588.4	+	3	695	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V156L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	156	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATGAGGTGCTGCAACT	0.418																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(466-468)GTG>CTG		hemicentin 1 precursor							102.0	92.0	95.0					1																	185833728		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833728G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.466G>C	1.37:g.185833728G>C	ENSP00000271588:p.Val156Leu						p.V156L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			3	695	+			156			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.466G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727793	0.48833	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.93811	-3.29;-3.29	5.43	5.43	0.79202	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93805	0.7104	10	0.31617	T	0.26	.	19.2402	0.93879	0.0:0.0:1.0:0.0	.	156	Q96RW7	HMCN1_HUMAN	L	156	ENSP00000271588:V156L;ENSP00000356462:V156L	ENSP00000271588:V156L	V	+	1	0	HMCN1	184100351	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.533000	0.85409	0.655000	0.94253	GTG		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	27	0	0	0	0	13	27				
REN	5972	broad.mit.edu	37	1	204131245	204131245	+	Silent	SNP	G	G	T	rs121917741		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:204131245G>T	ENST00000272190.8	-	2	173	c.145C>A	c.(145-147)Cga>Aga	p.R49R	REN_ENST00000367195.2_Silent_p.R49R	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	49					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCCACACCTCGTTCCTTCAGG	0.542											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001haq.2		NA																	0				skin(3)|central_nervous_system(1)	4	GRCh37	CM053391	REN	M	rs121917741	c.(145-147)CGA>AGA		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						154.0	126.0	135.0					1																	204131245		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204131245G>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.145C>A	1.37:g.204131245G>T			OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2142		p.R49R	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	189	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		49					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.145C>A	CCDS30981.1																																																																																				0.542	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		8	31	1	0	0.000673444	0.000732053	8	31				
ELK4	2005	broad.mit.edu	37	1	205585757	205585757	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:205585757T>C	ENST00000357992.4	-	5	1552	c.1213A>G	c.(1213-1215)Aac>Gac	p.N405D		NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	405					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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 cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCATGACTGTTCAGTACAGAA	0.438			T	SLC45A3	prostate																																	uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		0					0						c.(1213-1215)AAC>GAC		ELK4 protein isoform a							93.0	85.0	88.0					1																	205585757		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205585757T>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1213A>G	1.37:g.205585757T>C	ENSP00000350681:p.Asn405Asp						p.N405D	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		5	2463	-	Breast(84;0.07)		405					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.1213A>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950698	0.92660	.	.	ENSG00000158711	ENST00000539916;ENST00000357992	T	0.31769	1.48	5.65	5.65	0.86999	.	0.226377	0.51477	D	0.000084	T	0.35913	0.0948	L	0.47190	1.495	0.80722	D	1	D	0.57257	0.979	P	0.47528	0.549	T	0.15122	-1.0448	10	0.66056	D	0.02	.	14.9871	0.71356	0.0:0.0:0.0:1.0	.	405	P28324	ELK4_HUMAN	D	495;405	ENSP00000350681:N405D	ENSP00000350681:N405D	N	-	1	0	ELK4	203852380	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.758000	0.62220	2.280000	0.76307	0.460000	0.39030	AAC		0.438	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		22	85	0	0	0	0	22	85				
C1orf116	79098	broad.mit.edu	37	1	207196627	207196627	+	Missense_Mutation	SNP	G	G	A	rs370261907		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:207196627G>A	ENST00000359470.5	-	4	731	c.482C>T	c.(481-483)cCg>cTg	p.P161L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	161						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGCCTCCCCGGTTCTCCAGG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17860	0.0		0.0	False		,,,				2504	0.0					uc001hfd.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(481-483)CCG>CTG		specifically androgen-regulated protein isoform		G	,LEU/PRO	0,4406		0,0,2203	50.0	53.0	52.0		,482	4.3	0.0	1		52	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense	C1orf116	NM_001083924.1,NM_023938.5	,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,161/602	207196627	1,13005	2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207196627G>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.482C>T	1.37:g.207196627G>A	ENSP00000352447:p.Pro161Leu					C1orf116_uc009xcb.1_5'UTR	p.P161L	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	741	-	Prostate(682;0.19)		161					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.482C>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088446	0.36855	0.0	1.16E-4	ENSG00000182795	ENST00000359470	T	0.08102	3.13	4.31	4.31	0.51392	.	0.957892	0.08719	N	0.903750	T	0.10637	0.0260	L	0.39898	1.24	0.80722	D	1	B	0.28026	0.198	B	0.29077	0.098	T	0.12268	-1.0554	10	0.56958	D	0.05	0.8508	13.0008	0.58673	0.0:0.0:1.0:0.0	.	161	Q9BW04	SARG_HUMAN	L	161	ENSP00000352447:P161L	ENSP00000352447:P161L	P	-	2	0	C1orf116	205263250	0.081000	0.21417	0.003000	0.11579	0.001000	0.01503	1.692000	0.37731	2.321000	0.78463	0.655000	0.94253	CCG		0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		40	81	0	0	0	0	40	81				
PTPN14	5784	broad.mit.edu	37	1	214542973	214542973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214542973G>C	ENST00000366956.5	-	17	3292	c.3098C>G	c.(3097-3099)gCc>gGc	p.A1033G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1033	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATAGGTGGCTGAGCTGTG	0.468																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(3097-3099)GCC>GGC		protein tyrosine phosphatase, non-receptor type							253.0	233.0	240.0					1																	214542973		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214542973G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3098C>G	1.37:g.214542973G>C	ENSP00000355923:p.Ala1033Gly						p.A1033G	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	17	3369	-			1033			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3098C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721157	0.68959	.	.	ENSG00000152104	ENST00000366956	T	0.14144	2.53	5.51	4.57	0.56435	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.057092	0.64402	D	0.000001	T	0.09992	0.0245	N	0.25245	0.725	0.80722	D	1	P	0.50943	0.94	B	0.40506	0.331	T	0.06463	-1.0825	10	0.72032	D	0.01	.	11.0599	0.47942	0.0:0.1399:0.7148:0.1453	.	1033	Q15678	PTN14_HUMAN	G	1033	ENSP00000355923:A1033G	ENSP00000355923:A1033G	A	-	2	0	PTPN14	212609596	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.700000	0.61803	1.253000	0.44018	0.650000	0.86243	GCC		0.468	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		61	240	0	0	0	0	61	240				
PTPN14	5784	broad.mit.edu	37	1	214557726	214557726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:214557726C>T	ENST00000366956.5	-	13	1666	c.1472G>A	c.(1471-1473)cGg>cAg	p.R491Q	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	491					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.R491L(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GTGCCTCTCCCGCATCTCCGG	0.522																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1471-1473)CGG>CAG		protein tyrosine phosphatase, non-receptor type							145.0	153.0	151.0					1																	214557726		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557726C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1472G>A	1.37:g.214557726C>T	ENSP00000355923:p.Arg491Gln					PTPN14_uc010pty.1_Missense_Mutation_p.R392Q	p.R491Q	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1743	-			491					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1472G>A	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969269	0.74246	.	.	ENSG00000152104	ENST00000366956	T	0.69926	-0.44	5.49	4.58	0.56647	.	0.114078	0.64402	N	0.000018	T	0.51873	0.1700	L	0.41492	1.28	0.80722	D	1	P	0.34662	0.462	B	0.21151	0.033	T	0.54529	-0.8280	10	0.52906	T	0.07	.	10.5022	0.44813	0.0:0.8513:0.0:0.1487	.	491	Q15678	PTN14_HUMAN	Q	491	ENSP00000355923:R491Q	ENSP00000355923:R491Q	R	-	2	0	PTPN14	212624349	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.839000	0.62810	1.325000	0.45301	-0.145000	0.13849	CGG		0.522	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		54	193	0	0	0	0	54	193				
USH2A	7399	broad.mit.edu	37	1	216258096	216258096	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:216258096T>G	ENST00000307340.3	-	25	5497	c.5111A>C	c.(5110-5112)aAc>aCc	p.N1704T	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1704T|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1704	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCCAGCTGTTATACACGTT	0.418										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5110-5112)AAC>ACC		usherin isoform B							125.0	122.0	123.0					1																	216258096		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.chr1:216258096T>G	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.5111A>C	1.37:g.216258096T>G	ENSP00000305941:p.Asn1704Thr	HNSCC(13;0.011)					p.N1704T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5498	-			1704			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5111A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975800	0.34848	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.6;2.59	4.93	-2.26	0.06867	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (1);	0.848398	0.09990	N	0.729916	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	0.999999	B	0.20887	0.049	B	0.16722	0.016	T	0.42799	-0.9430	10	0.19590	T	0.45	.	6.0815	0.19944	0.0:0.2211:0.232:0.5468	.	1704	O75445	USH2A_HUMAN	T	1704	ENSP00000305941:N1704T;ENSP00000355910:N1704T	ENSP00000305941:N1704T	N	-	2	0	USH2A	214324719	0.136000	0.22515	0.006000	0.13384	0.963000	0.63663	0.884000	0.28214	-0.049000	0.13379	0.529000	0.55759	AAC		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	134	0	0	0	0	25	134				
SLC35F3	148641	broad.mit.edu	37	1	234452395	234452395	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:234452395C>T	ENST00000366617.3	+	4	897	c.669C>T	c.(667-669)taC>taT	p.Y223Y	SLC35F3_ENST00000366618.3_Silent_p.Y292Y			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	223					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGATGACCTACGCTGATGGCT	0.587																																						uc001hwa.1		NA																	0				ovary(2)	2						c.(667-669)TAC>TAT		solute carrier family 35, member F3							192.0	178.0	183.0					1																	234452395		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234452395C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.669C>T	1.37:g.234452395C>T						SLC35F3_uc001hvy.1_Silent_p.Y292Y	p.Y223Y	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		4	897	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	223			Helical; (Potential).		Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.669C>T																																																																																					0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		45	86	0	0	0	0	45	86				
RBM34	23029	broad.mit.edu	37	1	235295239	235295239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:235295239C>T	ENST00000408888.3	-	11	1312	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	RBM34_ENST00000366606.3_Missense_Mutation_p.R356H|TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000495224.1_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34	361	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTAACAGAACGCATGACTCT	0.313																																						uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(1081-1083)CGT>CAT		RNA binding motif protein 34 isoform 1							82.0	75.0	77.0					1																	235295239		1814	4073	5887	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295239C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1082G>A	1.37:g.235295239C>T	ENSP00000386226:p.Arg361His					TOMM20_uc001hwl.2_5'Flank|RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	p.R361H	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1112	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	361			RRM 2.		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.1082G>A	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804680	0.50315	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.74737	-0.87;-0.87;-0.87	5.64	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.052679	0.64402	D	0.000001	T	0.66107	0.2756	L	0.55743	1.74	0.80722	D	1	B	0.25105	0.118	B	0.23852	0.049	T	0.59327	-0.7475	10	0.14252	T	0.57	-0.0035	10.7433	0.46166	0.0:0.8489:0.0:0.1511	.	361	P42696	RBM34_HUMAN	H	361;356;339	ENSP00000386226:R361H;ENSP00000355565:R356H;ENSP00000400000:R339H	ENSP00000355565:R356H	R	-	2	0	RBM34	233361862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.013000	0.40942	1.379000	0.46325	0.563000	0.77884	CGT		0.313	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		15	82	0	0	0	0	15	82				
RYR2	6262	broad.mit.edu	37	1	237969512	237969512	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:237969512C>A	ENST00000366574.2	+	99	14544	c.14227C>A	c.(14227-14229)Ctt>Att	p.L4743I	RYR2_ENST00000360064.6_Missense_Mutation_p.L4749I|RYR2_ENST00000542537.1_Missense_Mutation_p.L4727I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					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)			TGCCGCTCACCTTCTCGACAT	0.413																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14227-14229)CTT>ATT		cardiac muscle ryanodine receptor							223.0	197.0	205.0					1																	237969512		1897	4115	6012	SO:0001583	missense	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.chr1:237969512C>A	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.14227C>A	1.37:g.237969512C>A	ENSP00000355533:p.Leu4743Ile					RYR2_uc010pyb.1_Missense_Mutation_p.L176I	p.L4743I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14347	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4743					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14227C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216624	0.79352	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98762	-5.12;-5.12;-5.12	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.53938	U	0.000051	D	0.99345	0.9770	H	0.95328	3.655	0.51482	D	0.999927	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.992	D	0.98708	1.0703	10	0.87932	D	0	.	12.8944	0.58091	0.0:0.9254:0.0:0.0746	.	176;4743	F5H3C7;Q92736	.;RYR2_HUMAN	I	4743;4749;4727;176	ENSP00000355533:L4743I;ENSP00000353174:L4749I;ENSP00000443798:L4727I	ENSP00000353174:L4749I	L	+	1	0	RYR2	236036135	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.257000	0.51500	2.700000	0.92200	0.655000	0.94253	CTT		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	55	1	0	2.32e-09	2.88e-09	16	55				
TRIM58	25893	broad.mit.edu	37	1	248039216	248039216	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248039216G>T	ENST00000366481.3	+	6	934	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	296	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTAAAGCTGGATCCCGCCAC	0.542																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(886-888)GAT>TAT		tripartite motif-containing 58							54.0	54.0	54.0					1																	248039216		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039216G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.886G>T	1.37:g.248039216G>T	ENSP00000355437:p.Asp296Tyr					OR2W3_uc001idp.1_5'UTR	p.D296Y	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	934	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	296			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.886G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228411	0.39399	.	.	ENSG00000162722	ENST00000366481	T	0.61980	0.06	3.95	3.95	0.45737	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000013	D	0.82737	0.5102	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86984	0.2106	10	0.87932	D	0	.	14.3286	0.66537	0.0:0.0:1.0:0.0	.	296	Q8NG06	TRI58_HUMAN	Y	296	ENSP00000355437:D296Y	ENSP00000355437:D296Y	D	+	1	0	TRIM58	246105839	1.000000	0.71417	0.383000	0.26132	0.084000	0.17831	7.119000	0.77145	2.512000	0.84698	0.650000	0.86243	GAT		0.542	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		9	61	1	0	1.13e-05	1.3e-05	9	61				
OR2L2	26246	broad.mit.edu	37	1	248202460	248202460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248202460G>A	ENST00000366479.2	+	1	987	c.891G>A	c.(889-891)atG>atA	p.M297I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	297						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)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGGAGGTGATGGGGGCCCTGA	0.453																																						uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(889-891)ATG>ATA		olfactory receptor, family 2, subfamily L,							76.0	74.0	75.0					1																	248202460		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202460G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.891G>A	1.37:g.248202460G>A	ENSP00000355435:p.Met297Ile					OR2L13_uc001ids.2_Intron	p.M297I	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	987	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		297			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.891G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	3.710	-0.059706	0.07317	.	.	ENSG00000203663	ENST00000366479	T	0.36520	1.25	1.79	-0.474	0.12108	.	.	.	.	.	T	0.16342	0.0393	N	0.05441	-0.05	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21793	-1.0235	9	0.33940	T	0.23	.	5.8966	0.18943	0.3347:0.0:0.6653:0.0	.	297	Q8NH16	OR2L2_HUMAN	I	297	ENSP00000355435:M297I	ENSP00000355435:M297I	M	+	3	0	OR2L2	246269083	0.000000	0.05858	0.826000	0.32828	0.572000	0.35998	-0.686000	0.05161	-0.008000	0.14320	0.194000	0.17425	ATG		0.453	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		17	94	0	0	0	0	17	94				
OR2L13	284521	broad.mit.edu	37	1	248262808	248262808	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248262808T>C	ENST00000358120.2	+	2	276	c.131T>C	c.(130-132)aTg>aCg	p.M44T	OR2L13_ENST00000366478.2_Missense_Mutation_p.M44T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AACTCGGCCATGATTCACCTC	0.488																																						uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(130-132)ATG>ACG		olfactory receptor, family 2, subfamily L,							220.0	208.0	212.0					1																	248262808		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262808T>C	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.131T>C	1.37:g.248262808T>C	ENSP00000350836:p.Met44Thr						p.M44T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	468	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		44			Helical; Name=1; (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.131T>C	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813798	0.32053	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00441	7.41;7.41	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.00328	0.0010	L	0.38953	1.18	0.25006	N	0.99144	P	0.35433	0.501	B	0.30646	0.118	T	0.53173	-0.8476	10	0.59425	D	0.04	.	12.8577	0.57894	0.0:0.0:0.0:1.0	.	44	Q8N349	OR2LD_HUMAN	T	44	ENSP00000355434:M44T;ENSP00000350836:M44T	ENSP00000350836:M44T	M	+	2	0	OR2L13	246329431	0.639000	0.27234	0.370000	0.25965	0.566000	0.35808	5.975000	0.70475	1.688000	0.51068	0.528000	0.53228	ATG		0.488	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		38	146	0	0	0	0	38	146				
OR2M4	26245	broad.mit.edu	37	1	248402915	248402915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248402915G>A	ENST00000306687.1	+	1	685	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	229					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)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCACATGGGCTCTGGGGA	0.483																																						uc010pzh.1		NA																	0				breast(2)	2						c.(685-687)GGC>AGC		olfactory receptor, family 2, subfamily M,							97.0	91.0	93.0					1																	248402915		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402915G>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.685G>A	1.37:g.248402915G>A	ENSP00000306688:p.Gly229Ser						p.G229S	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	685	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		229			Cytoplasmic (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.685G>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.484561	0.01027	.	.	ENSG00000171180	ENST00000306687	T	0.34859	1.34	3.34	-0.866	0.10659	GPCR, rhodopsin-like superfamily (1);	0.743675	0.11495	N	0.558350	T	0.09862	0.0242	N	0.01779	-0.725	0.09310	N	1	B	0.14805	0.011	B	0.21360	0.034	T	0.30995	-0.9959	10	0.09084	T	0.74	.	1.0975	0.01676	0.4341:0.1562:0.2504:0.1593	.	229	Q96R27	OR2M4_HUMAN	S	229	ENSP00000306688:G229S	ENSP00000306688:G229S	G	+	1	0	OR2M4	246469538	0.000000	0.05858	0.034000	0.17996	0.526000	0.34562	-1.041000	0.03542	-0.055000	0.13244	0.543000	0.68304	GGC		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		24	33	0	0	0	0	24	33				
OR2G6	391211	broad.mit.edu	37	1	248685532	248685532	+	Missense_Mutation	SNP	C	C	A	rs77917888	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248685532C>A	ENST00000343414.4	+	1	617	c.585C>A	c.(583-585)aaC>aaA	p.N195K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGACTTTCAACGAGGCAGAAC	0.473																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(583-585)AAC>AAA		olfactory receptor, family 2, subfamily G,							127.0	129.0	129.0					1																	248685532		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685532C>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.585C>A	1.37:g.248685532C>A	ENSP00000341291:p.Asn195Lys						p.N195K	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	585	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	195			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.585C>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	7.855	0.724887	0.15439	.	.	ENSG00000188558	ENST00000343414	T	0.00198	8.57	3.68	-3.84	0.04256	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	U	0.000226	T	0.00384	0.0012	M	0.77486	2.375	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.43327	-0.9398	10	0.59425	D	0.04	.	6.1846	0.20490	0.1199:0.3413:0.0:0.5388	.	195	Q5TZ20	OR2G6_HUMAN	K	195	ENSP00000341291:N195K	ENSP00000341291:N195K	N	+	3	2	OR2G6	246752155	0.000000	0.05858	0.074000	0.20217	0.215000	0.24574	-1.851000	0.01669	-0.693000	0.05121	-0.528000	0.04320	AAC		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		20	54	1	0	1.55e-18	2.14e-18	20	54				
OR2T11	127077	broad.mit.edu	37	1	248790373	248790373	+	Missense_Mutation	SNP	C	C	A	rs202172971		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:248790373C>A	ENST00000330803.2	-	1	118	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCGGCAGCCTCACTGTTCA	0.527																																						uc001ier.1		NA																	0				lung(1)	1						c.(55-57)GAG>GAT		olfactory receptor, family 2, subfamily T,							45.0	55.0	52.0					1																	248790373		2047	4237	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790373C>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.57G>T	1.37:g.248790373C>A	ENSP00000328934:p.Glu19Asp						p.E19D	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	57	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		19			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.57G>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	9.417	1.082050	0.20309	.	.	ENSG00000183130	ENST00000330803	T	0.00433	7.43	4.62	0.183	0.15082	.	1.277300	0.05847	N	0.620477	T	0.00241	0.0007	N	0.17278	0.47	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29792	-1.0000	10	0.30854	T	0.27	.	4.5778	0.12243	0.0:0.4053:0.1612:0.4335	.	19	Q8NH01	O2T11_HUMAN	D	19	ENSP00000328934:E19D	ENSP00000328934:E19D	E	-	3	2	OR2T11	246856996	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.019000	0.12546	0.091000	0.17302	-0.136000	0.14681	GAG		0.527	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		21	18	1	0	2.39e-15	3.18e-15	21	18				
ZEB1	6935	broad.mit.edu	37	10	31816121	31816121	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:31816121G>T	ENST00000320985.10	+	9	3414	c.3304G>T	c.(3304-3306)Gca>Tca	p.A1102S	ZEB1_ENST00000542815.3_Missense_Mutation_p.A1035S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1103S|ZEB1_ENST00000446923.2_Missense_Mutation_p.A1086S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A1082S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1102	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAAGTCAAGCAAGCAGCTT	0.418																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.(3304-3306)GCA>TCA		zinc finger E-box binding homeobox 1 isoform b							124.0	119.0	121.0					10																	31816121		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31816121G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3304G>T	10.37:g.31816121G>T	ENSP00000319248:p.Ala1102Ser					ZEB1_uc001ivr.3_Missense_Mutation_p.A884S|ZEB1_uc010qee.1_Missense_Mutation_p.A884S|ZEB1_uc010qef.1_Missense_Mutation_p.A884S|ZEB1_uc001ivt.3_Missense_Mutation_p.A884S|ZEB1_uc001ivu.3_Missense_Mutation_p.A1103S|ZEB1_uc001ivv.3_Missense_Mutation_p.A1082S|ZEB1_uc010qeh.1_Missense_Mutation_p.A1035S|ZEB1_uc009xlp.2_Missense_Mutation_p.A1086S	p.A1102S	NM_030751	NP_110378	P37275	ZEB1_HUMAN			9	3367	+		Prostate(175;0.0156)	1102			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.3304G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518980	0.44866	.	.	ENSG00000148516	ENST00000542879;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11385	3.07;2.78;2.82;2.78;2.82	5.27	5.27	0.74061	.	2.255640	0.02150	N	0.057916	T	0.20740	0.0499	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B	0.17038	0.01;0.02;0.02;0.02;0.02	B;B;B;B;B	0.21151	0.033;0.014;0.014;0.014;0.014	T	0.52609	-0.8553	10	0.40728	T	0.16	-1.9804	18.9456	0.92621	0.0:0.0:1.0:0.0	.	1035;1086;1082;1103;1102	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	S	884;1103;1097;1035;1102;1082;621;993;1086	ENSP00000444282:A884S;ENSP00000354487:A1103S;ENSP00000444891:A1035S;ENSP00000319248:A1102S;ENSP00000391612:A1086S	ENSP00000319248:A1102S	A	+	1	0	ZEB1	31856127	0.006000	0.16342	0.006000	0.13384	0.027000	0.11550	1.610000	0.36869	2.472000	0.83506	0.644000	0.83932	GCA		0.418	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		16	25	1	0	1.34e-09	1.66e-09	16	25				
ARHGAP22	58504	broad.mit.edu	37	10	49763518	49763518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:49763518C>A	ENST00000249601.4	-	3	608	c.312G>T	c.(310-312)gaG>gaT	p.E104D	ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E104D|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E110D	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGGCTGATCTCAAAGAGGT	0.577																																						uc001jgt.2		NA																	0				ovary(1)	1						c.(310-312)GAG>GAT		Rho GTPase activating protein 2							94.0	88.0	90.0					10																	49763518		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49763518C>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.312G>T	10.37:g.49763518C>A	ENSP00000249601:p.Glu104Asp					ARHGAP22_uc001jgu.2_Missense_Mutation_p.E104D|ARHGAP22_uc010qgl.1_Missense_Mutation_p.E104D|ARHGAP22_uc010qgm.1_Missense_Mutation_p.E110D|ARHGAP22_uc001jgv.2_5'UTR	p.E104D	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN			3	609	-			104			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.312G>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941260	0.53079	.	.	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.76839	-1.05;-1.05;-1.05	5.32	3.2	0.36748	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.82930	0.5144	M	0.65975	2.015	0.34350	D	0.689732	B;B;P;B	0.52463	0.289;0.028;0.953;0.028	B;B;D;B	0.69824	0.31;0.122;0.966;0.122	D	0.85121	0.0969	10	0.56958	D	0.05	.	5.1634	0.15073	0.0:0.7058:0.0:0.2942	.	110;104;104;104	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	D	104;110;104	ENSP00000249601:E104D;ENSP00000416701:E110D;ENSP00000412461:E104D	ENSP00000249601:E104D	E	-	3	2	ARHGAP22	49433524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.382000	0.34374	1.247000	0.43917	0.650000	0.86243	GAG		0.577	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		47	108	1	0	2.56e-31	3.72e-31	47	108				
OGDHL	55753	broad.mit.edu	37	10	50946031	50946031	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:50946031C>A	ENST00000374103.4	-	19	2564	c.2479G>T	c.(2479-2481)Gtg>Ttg	p.V827L	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770L|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652																																						uc001jie.2		NA																	0				pancreas(1)	1						c.(2479-2481)GTG>TTG		oxoglutarate dehydrogenase-like isoform a							196.0	186.0	189.0					10																	50946031		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946031C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2479G>T	10.37:g.50946031C>A	ENSP00000363216:p.Val827Leu					OGDHL_uc009xog.2_Missense_Mutation_p.V854L|OGDHL_uc010qgt.1_Missense_Mutation_p.V770L|OGDHL_uc010qgu.1_Missense_Mutation_p.V618L	p.V827L	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			19	2621	-			827					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2479G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041901	0.55003	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.89050	-2.46;-2.46;-2.46	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	N	0.02973	-0.45	0.58432	D	0.999999	B;B;B	0.13145	0.002;0.002;0.007	B;B;B	0.21360	0.013;0.022;0.034	T	0.71321	-0.4628	10	0.20519	T	0.43	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	770;618;827	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	L	827;770;618	ENSP00000363216:V827L;ENSP00000401356:V770L;ENSP00000390240:V618L	ENSP00000363216:V827L	V	-	1	0	OGDHL	50616037	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	4.072000	0.57563	2.222000	0.72286	0.650000	0.86243	GTG		0.652	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		70	169	1	0	1.79e-35	2.64e-35	70	169				
PCDH15	65217	broad.mit.edu	37	10	56077052	56077052	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:56077052G>T	ENST00000320301.6	-	8	1249	c.855C>A	c.(853-855)gcC>gcA	p.A285A	PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000373965.2_Silent_p.A285A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000395438.1_Silent_p.A285A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000414778.1_Silent_p.A290A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.A285A(2)|p.A290A(2)		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)				ACTCAGGTATGGCAGCTTGAT	0.413										HNSCC(58;0.16)																												uc001jju.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(853-855)GCC>GCA		protocadherin 15 isoform CD1-4 precursor							120.0	105.0	110.0					10																	56077052		2203	4300	6503	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.chr10:56077052G>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	ENST00000320301.6:c.855C>A	10.37:g.56077052G>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.A290A|PCDH15_uc010qhr.1_Silent_p.A285A|PCDH15_uc010qhs.1_Silent_p.A290A|PCDH15_uc010qht.1_Silent_p.A285A|PCDH15_uc010qhu.1_Silent_p.A285A|PCDH15_uc001jjv.1_Silent_p.A263A|PCDH15_uc010qhv.1_Silent_p.A285A|PCDH15_uc010qhw.1_Silent_p.A248A|PCDH15_uc010qhx.1_Silent_p.A285A|PCDH15_uc010qhy.1_Silent_p.A290A|PCDH15_uc010qhz.1_Silent_p.A285A|PCDH15_uc010qia.1_Silent_p.A263A|PCDH15_uc010qib.1_Silent_p.A263A|PCDH15_uc001jjw.2_Silent_p.A285A	p.A285A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			8	1250	-		Melanoma(3;0.117)|Lung SC(717;0.238)	285			Cadherin 3.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.855C>A	CCDS7248.1																																																																																				0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		29	34	1	0	9.65e-13	1.25e-12	29	34				
CTNNA3	29119	broad.mit.edu	37	10	68280484	68280484	+	Silent	SNP	C	C	A	rs372258059		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:68280484C>A	ENST00000433211.2	-	11	1596	c.1422G>T	c.(1420-1422)gcG>gcT	p.A474A	CTNNA3_ENST00000373744.4_Silent_p.A474A	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTTTTTGACCGCTTGACTTT	0.378																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1420-1422)GCG>GCT		catenin, alpha 3							181.0	153.0	163.0					10																	68280484		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68280484C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1422G>T	10.37:g.68280484C>A						CTNNA3_uc001jmw.2_Silent_p.A474A|CTNNA3_uc001jmx.3_Silent_p.A474A	p.A474A	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			11	1545	-			474						Silent	SNP	ENST00000433211.2	37	c.1422G>T	CCDS7269.1																																																																																				0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		43	94	1	0	3.71e-28	5.37e-28	43	94				
GHITM	27069	broad.mit.edu	37	10	85901368	85901368	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:85901368C>T	ENST00000372134.3	+	2	305	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	38					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						GAATCAATGGCTGTTAACACC	0.448																																						uc001kcs.1		NA																	0					0						c.(112-114)CTG>TTG		growth hormone inducible transmembrane protein							125.0	117.0	119.0					10																	85901368		1854	4107	5961	SO:0001819	synonymous_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85901368C>T	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.112C>T	10.37:g.85901368C>T						GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	p.L38L	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN			2	316	+			38					A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	ENST00000372134.3	37	c.112C>T	CCDS41542.1																																																																																				0.448	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394		55	128	0	0	0	0	55	128				
PKD2L1	9033	broad.mit.edu	37	10	102050189	102050189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:102050189C>A	ENST00000318222.3	-	13	2477	c.2095G>T	c.(2095-2097)Gga>Tga	p.G699*	PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.G699*|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.G624*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	699					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACCCAGCCTCCTGCTCTGGCA	0.517																																						uc001kqx.1		NA																	0				ovary(4)	4						c.(2095-2097)GGA>TGA		polycystic kidney disease 2-like 1							65.0	57.0	59.0					10																	102050189		2203	4300	6503	SO:0001587	stop_gained	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102050189C>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2095G>T	10.37:g.102050189C>A	ENSP00000325296:p.Gly699*					PKD2L1_uc009xwm.1_Nonsense_Mutation_p.G652*	p.G699*	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	13	2478	-		Colorectal(252;0.117)	699			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	ENST00000318222.3	37	c.2095G>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115896	0.97296	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	.	.	.	5.05	1.93	0.25924	.	0.894593	0.09897	N	0.741536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	1.2561	6.1197	0.20146	0.1343:0.6465:0.1386:0.0806	.	.	.	.	X	624;699;699;697	.	ENSP00000325296:G699X	G	-	1	0	PKD2L1	102040179	0.004000	0.15560	0.287000	0.24848	0.314000	0.28054	0.128000	0.15810	1.092000	0.41356	0.313000	0.20887	GGA		0.517	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		17	41	1	0	7.21e-19	9.94e-19	17	41				
MKI67	4288	broad.mit.edu	37	10	129904753	129904753	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:129904753G>A	ENST00000368654.3	-	13	5726	c.5351C>T	c.(5350-5352)aCa>aTa	p.T1784I	MKI67_ENST00000368653.3_Missense_Mutation_p.T1424I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1784	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGTGTGTGCATGGC	0.468																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(5350-5352)ACA>ATA		antigen identified by monoclonal antibody Ki-67							201.0	187.0	192.0					10																	129904753		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904753G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5351C>T	10.37:g.129904753G>A	ENSP00000357643:p.Thr1784Ile					MKI67_uc001lkf.2_Missense_Mutation_p.T1424I|MKI67_uc009yav.1_Missense_Mutation_p.T1359I|MKI67_uc009yaw.1_Missense_Mutation_p.T934I	p.T1784I	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5546	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1784			7.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.5351C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942500	0.34283	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03124	4.04;4.04	3.12	1.1	0.20463	.	1.456810	0.04732	N	0.421244	T	0.07143	0.0181	L	0.61218	1.895	0.09310	N	1	B;P;P	0.43788	0.22;0.669;0.817	B;B;B	0.43658	0.093;0.122;0.426	T	0.35798	-0.9774	10	0.41790	T	0.15	.	5.7285	0.18026	0.2764:0.0:0.7236:0.0	.	1783;1424;1784	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	1784;1424;1783	ENSP00000357643:T1784I;ENSP00000357642:T1424I	ENSP00000357642:T1424I	T	-	2	0	MKI67	129794743	0.006000	0.16342	0.005000	0.12908	0.178000	0.23041	0.274000	0.18680	0.141000	0.18875	0.563000	0.77884	ACA		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		86	209	0	0	0	0	86	209				
KNDC1	85442	broad.mit.edu	37	10	135011840	135011841	+	Splice_Site	DNP	GG	GG	TT			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr10:135011840_135011841GG>TT	ENST00000304613.3	+	13	1927_1928	c.1906_1907GG>TT	c.(1906-1908)GGc>TTc	p.G636F	KNDC1_ENST00000368572.2_Splice_Site_p.G636F|KNDC1_ENST00000368571.2_Splice_Site_p.G571F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	636					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGCTCCCCAGGCTTCCTGCCG	0.723																																						uc001llz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.e13-1		kinase non-catalytic C-lobe domain (KIND)																																				SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135011840_135011841GG>TT	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	Exception_encountered	10.37:g.135011840_135011841delinsTT						KNDC1_uc001lma.1_Splice_Site_p.G571_splice|KNDC1_uc001lmb.1_Splice_Site_p.G48_splice	p.G636_splice	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	13	1908	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)						B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	DNP	ENST00000304613.3	37	c.1907_splice	CCDS7674.1																																																																																				0.723	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Missense_Mutation	5	9	0	0	0	0	5	9				
MUC6	4588	broad.mit.edu	37	11	1016760	1016760	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:1016760G>T	ENST00000421673.2	-	31	6091	c.6041C>A	c.(6040-6042)aCc>aAc	p.T2014N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2014	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACCAAGGAGGTGGAGAAAGG	0.537																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(6040-6042)ACC>AAC		mucin 6, gastric							937.0	877.0	897.0					11																	1016760		2203	4297	6500	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016760G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6041C>A	11.37:g.1016760G>T	ENSP00000406861:p.Thr2014Asn						p.T2014N	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	6092	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2014			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6041C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419572	0.42918	.	.	ENSG00000184956	ENST00000421673	T	0.37915	1.17	2.87	1.92	0.25849	.	.	.	.	.	T	0.44726	0.1307	L	0.59436	1.845	0.09310	N	1	D	0.69078	0.997	P	0.57911	0.829	T	0.25433	-1.0132	9	0.24483	T	0.36	.	8.0016	0.30299	0.1375:0.0:0.8625:0.0	.	2014	Q6W4X9	MUC6_HUMAN	N	2014	ENSP00000406861:T2014N	ENSP00000406861:T2014N	T	-	2	0	MUC6	1006760	0.018000	0.18449	0.012000	0.15200	0.059000	0.15707	1.902000	0.39848	0.506000	0.28125	0.313000	0.20887	ACC		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		46	630	1	0	1.97e-11	2.51e-11	46	630				
CHRNA10	57053	broad.mit.edu	37	11	3688905	3688905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:3688905C>G	ENST00000250699.2	-	4	523	c.452G>C	c.(451-453)cGc>cCc	p.R151P	Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	151					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GCACGAGCTGCGCGTGATGGC	0.711																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2		NA																	0				ovary(1)	1						c.(451-453)CGC>CCC		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						9.0	8.0	8.0					11																	3688905		2088	4033	6121	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688905C>G	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.452G>C	11.37:g.3688905C>G	ENSP00000250699:p.Arg151Pro					CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	p.R151P	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	524	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	151			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000250699.2	37	c.452G>C	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776413	0.70107	.	.	ENSG00000129749	ENST00000250699	T	0.79940	-1.32	4.8	3.88	0.44766	Neurotransmitter-gated ion-channel ligand-binding (3);	0.398096	0.20768	N	0.086024	T	0.81973	0.4936	M	0.83774	2.66	0.80722	D	1	P	0.43973	0.823	P	0.46172	0.506	T	0.82153	-0.0598	10	0.87932	D	0	.	4.8887	0.13715	0.0:0.6402:0.1906:0.1692	.	151	Q9GZZ6	ACH10_HUMAN	P	151	ENSP00000250699:R151P	ENSP00000250699:R151P	R	-	2	0	CHRNA10	3645481	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.764000	0.62264	1.213000	0.43380	0.561000	0.74099	CGC		0.711	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			5	17	0	0	0	0	5	17				
OR51V1	283111	broad.mit.edu	37	11	5221655	5221655	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5221655C>T	ENST00000321255.1	-	1	275	c.276G>A	c.(274-276)ggG>ggA	p.G92G		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	92					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACAGGATCCCCAGCACTG	0.547																																						uc010qyz.1		NA																	0				skin(1)	1						c.(274-276)GGG>GGA		olfactory receptor, family 51, subfamily V,							76.0	67.0	70.0					11																	5221655		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221655C>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.276G>A	11.37:g.5221655C>T							p.G92G	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	276	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	92			Extracellular (Potential).			Silent	SNP	ENST00000321255.1	37	c.276G>A	CCDS31375.1																																																																																				0.547	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		24	58	0	0	0	0	24	58				
TRIM22	10346	broad.mit.edu	37	11	5717794	5717794	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:5717794A>G	ENST00000379965.3	+	2	609	c.332A>G	c.(331-333)gAt>gGt	p.D111G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	111					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTAAGGAGGATGGAAAAGTC	0.483																																					GBM(104;491 2336 5222)	uc001mbr.2		NA																	0					0						c.(331-333)GAT>GGT		tripartite motif-containing 22							68.0	74.0	72.0					11																	5717794		2089	4243	6332	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5717794A>G	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.332A>G	11.37:g.5717794A>G	ENSP00000369299:p.Asp111Gly					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.D111G|TRIM22_uc009yes.2_Missense_Mutation_p.D111G|TRIM22_uc010qzm.1_Missense_Mutation_p.M17V|TRIM22_uc009yeu.2_5'UTR	p.D111G	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	2	609	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	111			B box-type.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.332A>G	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788988	0.70337	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.82	4.82	0.62117	Zinc finger, B-box (3);	.	.	.	.	T	0.81856	0.4911	H	0.99609	4.655	0.33874	D	0.635347	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.973;0.989	D	0.91887	0.5520	9	0.87932	D	0	.	12.6431	0.56720	1.0:0.0:0.0:0.0	.	111;111;111	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	G	111	ENSP00000369299:D111G;ENSP00000400417:D111G;ENSP00000393250:D111G;ENSP00000396849:D111G	ENSP00000369299:D111G	D	+	2	0	TRIM22	5674370	1.000000	0.71417	0.022000	0.16811	0.712000	0.41017	8.427000	0.90275	1.961000	0.56991	0.383000	0.25322	GAT		0.483	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		31	56	0	0	0	0	31	56				
OR56A1	120796	broad.mit.edu	37	11	6048725	6048725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6048725G>A	ENST00000316650.5	-	1	246	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		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)		AGAGGAGGCTGAGCAGGTAGT	0.597																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(208-210)CTC>CTT		olfactory receptor, family 56, subfamily A,							76.0	73.0	74.0					11																	6048725		2201	4293	6494	SO:0001819	synonymous_variant	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048725G>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.210C>T	11.37:g.6048725G>A							p.L70L	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	210	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	70			Helical; Name=2; (Potential).		B2RNI2|Q6IFL0	Silent	SNP	ENST00000316650.5	37	c.210C>T	CCDS31405.1																																																																																				0.597	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		26	70	0	0	0	0	26	70				
OR6A2	8590	broad.mit.edu	37	11	6815970	6815970	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:6815970T>C	ENST00000332601.3	-	1	1158	c.970A>G	c.(970-972)Agc>Ggc	p.S324G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	324					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATTTCTGCTAGCTTTCTTG	0.443																																						uc001mes.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(970-972)AGC>GGC		olfactory receptor, family 6, subfamily A,							105.0	106.0	106.0					11																	6815970		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6815970T>C	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.970A>G	11.37:g.6815970T>C	ENSP00000330384:p.Ser324Gly						p.S324G	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1170	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	324			Cytoplasmic (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.970A>G	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	T	3.680	-0.065739	0.07273	.	.	ENSG00000184933	ENST00000332601	T	0.00421	7.46	4.92	-0.139	0.13460	.	0.485092	0.17349	N	0.177442	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20009	-1.0288	10	0.15066	T	0.55	.	7.4211	0.27073	0.0:0.446:0.0:0.554	.	324	O95222	OR6A2_HUMAN	G	324	ENSP00000330384:S324G	ENSP00000330384:S324G	S	-	1	0	OR6A2	6772546	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.050000	0.14120	0.089000	0.17243	0.533000	0.62120	AGC		0.443	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		19	81	0	0	0	0	19	81				
PIK3C2A	5286	broad.mit.edu	37	11	17169081	17169081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:17169081G>C	ENST00000265970.7	-	5	1542	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.Q135E|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	515					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCCAGATTTTGACACATTGCA	0.358																																						uc001mmq.3		NA																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(1543-1545)CAA>GAA		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						173.0	144.0	154.0					11																	17169081		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17169081G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.1543C>G	11.37:g.17169081G>C	ENSP00000265970:p.Gln515Glu					PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Q135E|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.Q515E|PIK3C2A_uc009ygv.1_Missense_Mutation_p.Q515E	p.Q515E	NM_002645	NP_002636	O00443	P3C2A_HUMAN			5	1609	-			515					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.1543C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954837	0.34471	.	.	ENSG00000011405	ENST00000265970;ENST00000540361;ENST00000544896	T;T	0.42513	0.97;0.97	5.02	5.02	0.67125	.	0.230920	0.43919	D	0.000519	T	0.37785	0.1016	L	0.47716	1.5	0.32900	D	0.513031	B;B	0.20261	0.005;0.043	B;B	0.16722	0.012;0.016	T	0.42032	-0.9475	10	0.30078	T	0.28	-1.8816	15.6458	0.77049	0.0:0.0:0.8621:0.1379	.	515;515	F5H5W9;O00443	.;P3C2A_HUMAN	E	515;135;515	ENSP00000265970:Q515E;ENSP00000438687:Q135E	ENSP00000265970:Q515E	Q	-	1	0	PIK3C2A	17125657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.350000	0.52224	2.718000	0.92993	0.650000	0.86243	CAA		0.358	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		15	43	0	0	0	0	15	43				
OR4X2	119764	broad.mit.edu	37	11	48267094	48267094	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:48267094C>T	ENST00000302329.3	+	1	487	c.439C>T	c.(439-441)Cat>Tat	p.H147Y		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTTCATGCATTCCTTTGC	0.498																																						uc001ngs.1		NA																	0					0						c.(439-441)CAT>TAT		olfactory receptor, family 4, subfamily X,							267.0	222.0	237.0					11																	48267094		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267094C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.439C>T	11.37:g.48267094C>T	ENSP00000307751:p.His147Tyr						p.H147Y	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	439	+			147			Helical; Name=4; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.439C>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130735	0.37630	.	.	ENSG00000172208	ENST00000302329	T	0.36699	1.24	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.55561	0.1928	M	0.62209	1.925	0.29901	N	0.824427	D	0.89917	1.0	D	0.91635	0.999	T	0.58075	-0.7700	10	0.87932	D	0	.	11.6765	0.51432	0.1769:0.823:0.0:0.0	.	147	Q8NGF9	OR4X2_HUMAN	Y	147	ENSP00000307751:H147Y	ENSP00000307751:H147Y	H	+	1	0	OR4X2	48223670	0.000000	0.05858	0.949000	0.38748	0.067000	0.16453	-0.043000	0.12043	2.496000	0.84212	0.650000	0.86243	CAT		0.498	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		68	129	0	0	0	0	68	129				
OR4C46	119749	broad.mit.edu	37	11	51515641	51515641	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:51515641C>T	ENST00000328188.1	+	1	360	c.360C>T	c.(358-360)caC>caT	p.H120H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	120						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						CCTATGACCACTATGTGGCCA	0.488																																						uc010ric.1		NA																	0				ovary(1)	1						c.(358-360)CAC>CAT		olfactory receptor, family 4, subfamily C,							159.0	155.0	156.0					11																	51515641		2201	4296	6497	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515641C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.360C>T	11.37:g.51515641C>T							p.H120H	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	360	+			120			Helical; Name=3; (Potential).			Silent	SNP	ENST00000328188.1	37	c.360C>T	CCDS31498.1																																																																																				0.488	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		60	88	0	0	0	0	60	88				
OR4A16	81327	broad.mit.edu	37	11	55110944	55110944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55110944A>G	ENST00000314721.2	+	1	318	c.268A>G	c.(268-270)Att>Gtt	p.I90V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAAAATCGCTATTTCCTTGTC	0.438																																						uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(268-270)ATT>GTT		olfactory receptor, family 4, subfamily A,							210.0	191.0	197.0					11																	55110944		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110944A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.268A>G	11.37:g.55110944A>G	ENSP00000325128:p.Ile90Val						p.I90V	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	268	+			90			Extracellular (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.268A>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	10.23	1.294313	0.23564	.	.	ENSG00000181961	ENST00000314721	T	0.01258	5.09	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04272	0.0118	M	0.79258	2.445	0.23174	N	0.998171	P	0.36837	0.571	P	0.45577	0.486	T	0.14172	-1.0482	9	0.72032	D	0.01	.	8.6087	0.33789	1.0:0.0:0.0:0.0	.	90	Q8NH70	O4A16_HUMAN	V	90	ENSP00000325128:I90V	ENSP00000325128:I90V	I	+	1	0	OR4A16	54867520	1.000000	0.71417	0.108000	0.21378	0.044000	0.14063	7.504000	0.81646	1.186000	0.42985	0.346000	0.21813	ATT		0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		95	111	0	0	0	0	95	111				
OR5D13	390142	broad.mit.edu	37	11	55540998	55540998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55540998C>A	ENST00000361760.1	+	1	85	c.85C>A	c.(85-87)Ctc>Atc	p.L29I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	29						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(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCAGGTTCCACTCTTTCTGGT	0.393																																						uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(85-87)CTC>ATC		olfactory receptor, family 5, subfamily D,							127.0	125.0	126.0					11																	55540998		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55540998C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.85C>A	11.37:g.55540998C>A	ENSP00000354800:p.Leu29Ile						p.L29I	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	85	+		all_epithelial(135;0.196)	29			Helical; Name=1; (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.85C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466918	0.43839	.	.	ENSG00000198877	ENST00000361760	T	0.16457	2.34	3.43	3.43	0.39272	.	0.000000	0.27327	U	0.019862	T	0.31104	0.0786	M	0.69463	2.115	0.09310	N	1	D	0.58268	0.982	P	0.58577	0.841	T	0.03829	-1.1000	10	0.87932	D	0	-9.5389	8.9284	0.35655	0.0:0.8848:0.0:0.1152	.	29	Q8NGL4	OR5DD_HUMAN	I	29	ENSP00000354800:L29I	ENSP00000354800:L29I	L	+	1	0	OR5D13	55297574	0.167000	0.22975	0.046000	0.18839	0.032000	0.12392	1.521000	0.35910	1.952000	0.56665	0.409000	0.27619	CTC		0.393	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		56	67	1	0	3.53e-34	5.18e-34	56	67				
OR5T2	219464	broad.mit.edu	37	11	55999771	55999771	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:55999771C>A	ENST00000313264.4	-	1	966	c.891G>T	c.(889-891)atG>atT	p.M297I		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTCTCACATACATGAAGAGGA	0.423																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(889-891)ATG>ATT		olfactory receptor, family 5, subfamily T,							201.0	177.0	185.0					11																	55999771		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999771C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.891G>T	11.37:g.55999771C>A	ENSP00000323688:p.Met297Ile						p.M297I	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	891	-	Esophageal squamous(21;0.00448)		297			Helical; Name=6; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.891G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566219	0.27915	.	.	ENSG00000181718	ENST00000313264	T	0.00145	8.67	5.07	-0.589	0.11683	GPCR, rhodopsin-like superfamily (1);	0.294429	0.24454	U	0.038396	T	0.00109	0.0003	L	0.41710	1.295	0.09310	N	1	B	0.27166	0.17	B	0.33121	0.158	T	0.38972	-0.9636	10	0.41790	T	0.15	.	0.5125	0.00597	0.2372:0.3406:0.1823:0.2399	.	297	Q8NGG2	OR5T2_HUMAN	I	297	ENSP00000323688:M297I	ENSP00000323688:M297I	M	-	3	0	OR5T2	55756347	0.000000	0.05858	0.945000	0.38365	0.759000	0.43091	-2.992000	0.00657	0.003000	0.14656	0.478000	0.44815	ATG		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		75	91	1	0	7.58e-32	1.1e-31	75	91				
P2RX3	5024	broad.mit.edu	37	11	57114095	57114095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:57114095G>T	ENST00000263314.2	+	2	231	c.197G>T	c.(196-198)gGc>gTc	p.G66V		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	66					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AAGGTGAAGGGCTCCGGACTC	0.547																																						uc001nju.2		NA																	0					0						c.(196-198)GGC>GTC		purinergic receptor P2X3							144.0	102.0	117.0					11																	57114095		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114095G>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.197G>T	11.37:g.57114095G>T	ENSP00000263314:p.Gly66Val						p.G66V	NM_002559	NP_002550	P56373	P2RX3_HUMAN			2	273	+			66			Extracellular (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.197G>T	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007921	0.75046	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.21191	2.02	4.66	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61652	-0.7019	10	0.87932	D	0	-25.9019	11.3195	0.49412	0.0:0.0:0.8173:0.1827	.	66	P56373	P2RX3_HUMAN	V	66	ENSP00000263314:G66V	ENSP00000263314:G66V	G	+	2	0	P2RX3	56870671	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	8.420000	0.90256	1.135000	0.42183	0.561000	0.74099	GGC		0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		92	41	1	0	4.37e-21	6.16e-21	92	41				
OR5B17	219965	broad.mit.edu	37	11	58125729	58125729	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:58125729C>A	ENST00000357377.3	-	1	813	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCAATTTTGTCT	0.398																																						uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(814-816)GCA>TCA		olfactory receptor, family 5, subfamily B,							162.0	153.0	156.0					11																	58125729		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125729C>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.814G>T	11.37:g.58125729C>A	ENSP00000349945:p.Ala272Ser						p.A272S	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	814	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	272			Helical; Name=7; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.814G>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	7.913	0.737011	0.15574	.	.	ENSG00000197786	ENST00000357377	T	0.38240	1.15	3.09	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	U	0.002358	T	0.34919	0.0914	M	0.62088	1.915	0.09310	N	1	B	0.33826	0.427	P	0.45712	0.491	T	0.36261	-0.9755	10	0.41790	T	0.15	0.1203	1.0637	0.01606	0.3058:0.3744:0.1505:0.1693	.	272	Q8NGF7	OR5BH_HUMAN	S	272	ENSP00000349945:A272S	ENSP00000349945:A272S	A	-	1	0	OR5B17	57882305	0.000000	0.05858	0.002000	0.10522	0.129000	0.20672	-1.446000	0.02398	-0.678000	0.05224	0.461000	0.40582	GCA		0.398	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		104	68	1	0	3.92e-71	5.95e-71	104	68				
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:59224522T>A	ENST00000300127.2	+	1	112	c.89T>A	c.(88-90)gTc>gAc	p.V30D		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTTTGTGGTCTTCTTTGCT	0.463																																						uc010rku.1		NA																	0				ovary(1)	1						c.(88-90)GTC>GAC		olfactory receptor, family 4, subfamily D,							249.0	228.0	235.0					11																	59224522		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224522T>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.89T>A	11.37:g.59224522T>A	ENSP00000300127:p.Val30Asp						p.V30D	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	89	+			30			Helical; Name=1; (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.89T>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233703	0.58886	.	.	ENSG00000166884	ENST00000300127	T	0.03152	4.03	5.9	4.77	0.60923	.	0.275455	0.25546	N	0.029935	T	0.13756	0.0333	M	0.91038	3.17	0.23693	N	0.997095	P	0.37612	0.602	P	0.44897	0.463	T	0.04678	-1.0934	10	0.87932	D	0	-6.9632	11.2968	0.49282	0.0:0.0737:0.0:0.9263	.	30	Q8NGJ1	OR4D6_HUMAN	D	30	ENSP00000300127:V30D	ENSP00000300127:V30D	V	+	2	0	OR4D6	58981098	0.021000	0.18746	0.388000	0.26195	0.950000	0.60333	2.153000	0.42282	2.252000	0.74401	0.533000	0.62120	GTC		0.463	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		92	119	0	0	0	0	92	119				
RELA	5970	broad.mit.edu	37	11	65422031	65422031	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65422031T>G	ENST00000406246.3	-	11	1735	c.1474A>C	c.(1474-1476)Atg>Ctg	p.M492L	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.M489L	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	492					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TCCATCAGCATGGGCTCAGTT	0.637																																						uc001ofg.2		NA																	0				lung(3)|ovary(1)	4						c.(1474-1476)ATG>CTG		v-rel reticuloendotheliosis viral oncogene							64.0	66.0	65.0					11																	65422031		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65422031T>G	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1474A>C	11.37:g.65422031T>G	ENSP00000384273:p.Met492Leu					RELA_uc001ofh.2_Missense_Mutation_p.M489L|RELA_uc010ron.1_Missense_Mutation_p.M503L|RELA_uc009yqr.2_Missense_Mutation_p.M439L|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron	p.M492L	NM_021975	NP_068810	Q04206	TF65_HUMAN			11	1614	-			492					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.1474A>C	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391681	0.42410	.	.	ENSG00000173039	ENST00000406246;ENST00000308639	T;T	0.48522	0.81;0.81	3.9	3.9	0.45041	.	0.091036	0.47852	D	0.000213	T	0.45256	0.1333	L	0.29908	0.895	0.30378	N	0.782238	B;B;B;B	0.29805	0.257;0.031;0.257;0.167	P;B;P;B	0.44623	0.455;0.122;0.455;0.267	T	0.54483	-0.8287	10	0.72032	D	0.01	-18.0698	9.0506	0.36374	0.0:0.0:0.0:1.0	.	482;479;489;492	Q04206-3;Q04206-2;Q04206-4;Q04206	.;.;.;TF65_HUMAN	L	492;489	ENSP00000384273:M492L;ENSP00000311508:M489L	ENSP00000311508:M489L	M	-	1	0	RELA	65178607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.137000	0.42130	1.662000	0.50781	0.459000	0.35465	ATG		0.637	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		34	138	0	0	0	0	34	138				
EFEMP2	30008	broad.mit.edu	37	11	65638688	65638688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:65638688C>T	ENST00000307998.6	-	4	537	c.307G>A	c.(307-309)Gct>Act	p.A103T	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A103T	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	103				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108). {ECO:0000305}.	blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGTGTTGAGCGGGAGGCACT	0.652																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(307-309)GCT>ACT		EGF-containing fibulin-like extracellular matrix							79.0	85.0	83.0					11																	65638688		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638688C>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.307G>A	11.37:g.65638688C>T	ENSP00000309953:p.Ala103Thr					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.A103T	p.A103T	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	501	-			103	AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).				A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.307G>A	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267347	0.40095	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;T	0.82619	-1.58;-1.51;-1.63;-0.48	4.79	3.82	0.43975	.	0.325330	0.21867	N	0.067944	T	0.73753	0.3627	L	0.36672	1.1	0.09310	N	1	B;B	0.24426	0.103;0.005	B;B	0.17098	0.017;0.001	T	0.64542	-0.6383	10	0.48119	T	0.1	.	9.8966	0.41322	0.0:0.891:0.0:0.109	.	103;103	E9PRU1;O95967	.;FBLN4_HUMAN	T	103	ENSP00000434151:A103T;ENSP00000309953:A103T;ENSP00000435419:A103T;ENSP00000435963:A103T	ENSP00000309953:A103T	A	-	1	0	EFEMP2	65395264	0.966000	0.33281	0.020000	0.16555	0.563000	0.35712	2.416000	0.44644	1.134000	0.42165	-0.345000	0.07892	GCT		0.652	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		35	121	0	0	0	0	35	121				
CLPB	81570	broad.mit.edu	37	11	72004448	72004448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:72004448G>A	ENST00000294053.3	-	17	2260	c.2087C>T	c.(2086-2088)gCa>gTa	p.A696V	CLPB_ENST00000340729.5_Missense_Mutation_p.A637V|CLPB_ENST00000538039.1_Missense_Mutation_p.A666V|CLPB_ENST00000538021.1_Missense_Mutation_p.A304V|CLPB_ENST00000437826.2_Missense_Mutation_p.A651V|CLPB_ENST00000543042.1_Missense_Mutation_p.A495V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	696					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGCAGTGGTGCCCGGATGTC	0.602																																						uc001osj.2		NA																	0				pancreas(1)	1						c.(2086-2088)GCA>GTA		caseinolytic peptidase B							138.0	107.0	117.0					11																	72004448		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72004448G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.2087C>T	11.37:g.72004448G>A	ENSP00000294053:p.Ala696Val					CLPB_uc010rqx.1_Missense_Mutation_p.A651V|CLPB_uc010rqy.1_Missense_Mutation_p.A637V|CLPB_uc001osk.2_Missense_Mutation_p.A666V|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A495V|CLPB_uc001osi.2_Missense_Mutation_p.A304V	p.A696V	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			17	2137	-			696					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.2087C>T	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121264	0.56613	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	T;T;T;T;T;T	0.66460	1.86;1.04;2.02;-0.21;2.29;0.39	5.86	4.89	0.63831	.	0.193752	0.45126	D	0.000388	T	0.49081	0.1536	N	0.24115	0.695	0.32825	D	0.503242	B;B;B;B;B;B	0.30763	0.028;0.178;0.294;0.102;0.138;0.001	B;B;B;B;B;B	0.22152	0.006;0.036;0.038;0.031;0.024;0.001	T	0.62196	-0.6905	10	0.66056	D	0.02	-6.8249	10.4106	0.44291	0.0:0.1444:0.7063:0.1493	.	495;637;651;666;696;304	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777	.;.;.;.;CLPB_HUMAN;.	V	696;666;701;637;651;495;304	ENSP00000294053:A696V;ENSP00000441518:A666V;ENSP00000443822:A701V;ENSP00000340385:A637V;ENSP00000407296:A651V;ENSP00000439746:A495V	ENSP00000294053:A696V	A	-	2	0	CLPB	71682096	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.397000	0.59690	2.781000	0.95711	0.650000	0.86243	GCA		0.602	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		36	153	0	0	0	0	36	153				
TYR	7299	broad.mit.edu	37	11	88911460	88911460	+	Silent	SNP	A	A	C	rs61753255		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:88911460A>C	ENST00000263321.5	+	1	841	c.339A>C	c.(337-339)acA>acC	p.T113T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	113					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CAAACTGCACAGAGAGACGAC	0.463																																						uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(337-339)ACA>ACC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						89.0	88.0	88.0					11																	88911460		2201	4299	6500	SO:0001819	synonymous_variant	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911460A>C	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.339A>C	11.37:g.88911460A>C							p.T113T	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	421	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	113			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.339A>C	CCDS8284.1																																																																																				0.463	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		27	39	0	0	0	0	27	39				
GRIA4	2893	broad.mit.edu	37	11	105623920	105623920	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:105623920T>C	ENST00000530497.1	+	3	461	c.461T>C	c.(460-462)tTt>tCt	p.F154S	GRIA4_ENST00000428631.2_Missense_Mutation_p.F154S|GRIA4_ENST00000393125.2_Missense_Mutation_p.F154S|GRIA4_ENST00000525187.1_Missense_Mutation_p.F154S|GRIA4_ENST00000393127.2_Missense_Mutation_p.F154S|GRIA4_ENST00000282499.5_Missense_Mutation_p.F154S			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	154					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)		TGGAACTGTTTTGTCTTCCTG	0.433																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(460-462)TTT>TCT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						148.0	129.0	135.0					11																	105623920		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.chr11:105623920T>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.461T>C	11.37:g.105623920T>C	ENSP00000435775:p.Phe154Ser					GRIA4_uc001piu.1_Missense_Mutation_p.F154S|GRIA4_uc001piw.2_Missense_Mutation_p.F154S|GRIA4_uc001piv.2_Missense_Mutation_p.F154S|GRIA4_uc009yxk.1_Missense_Mutation_p.F154S	p.F154S	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	4	907	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	154			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.461T>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475658	0.84640	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.51	5.51	0.81932	Extracellular ligand-binding receptor (1);	0.084638	0.51477	D	0.000086	D	0.89230	0.6656	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D	0.67145	0.996;0.973;0.991;0.995	D;P;D;D	0.74348	0.972;0.872;0.922;0.983	D	0.90071	0.4163	10	0.87932	D	0	.	10.821	0.46604	0.141:0.0:0.0:0.859	.	154;154;184;154	P48058;G3V164;Q59GL7;Q86XE8	GRIA4_HUMAN;.;.;.	S	154	ENSP00000376833:F154S;ENSP00000282499:F154S;ENSP00000376835:F154S;ENSP00000415551:F154S;ENSP00000432443:F154S;ENSP00000435775:F154S;ENSP00000432180:F154S	ENSP00000282499:F154S	F	+	2	0	GRIA4	105129130	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.149000	0.71795	2.103000	0.63969	0.533000	0.62120	TTT		0.433	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			46	58	0	0	0	0	46	58				
WNK1	65125	broad.mit.edu	37	12	993327	993327	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:993327G>A	ENST00000315939.6	+	18	4405	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A	WNK1_ENST00000340908.4_Silent_p.A847A|WNK1_ENST00000537687.1_Silent_p.A1514A|WNK1_ENST00000530271.2_Silent_p.A1752A|WNK1_ENST00000535572.1_Silent_p.A1007A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1254					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCATTCTGCGGGAAGGCGGT	0.373																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3760-3762)GCG>GCA		WNK lysine deficient protein kinase 1							122.0	125.0	124.0					12																	993327		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:993327G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3762G>A	12.37:g.993327G>A						WNK1_uc001qip.3_Silent_p.A1007A|WNK1_uc001qir.3_Silent_p.A427A	p.A1254A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		18	4269	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1254					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.3762G>A	CCDS8506.1																																																																																				0.373	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		62	137	0	0	0	0	62	137				
NDUFA9	4704	broad.mit.edu	37	12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						ATACCCTATCGGTGTGATAAA	0.403																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.2		NA																	2	Substitution - Missense(2)		NS(1)|lung(1)	ovary(1)	1						c.(253-255)CGG>CAG		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						113.0	102.0	106.0					12																	4764024		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4764024G>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.254G>A	12.37:g.4764024G>A	ENSP00000266544:p.Arg85Gln					NDUFA9_uc009zei.1_Missense_Mutation_p.R85Q	p.R85Q	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			3	264	+			85					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.254G>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932479	0.92458	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	D;D	0.93763	-3.28;-1.81	5.59	5.59	0.84812	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98834	1.0752	10	0.87932	D	0	-10.5708	18.7211	0.91694	0.0:0.0:1.0:0.0	.	85;85	A8K4V2;Q16795	.;NDUA9_HUMAN	Q	85;107	ENSP00000266544:R85Q;ENSP00000440305:R107Q	ENSP00000266544:R85Q	R	+	2	0	NDUFA9	4634285	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	9.133000	0.94460	2.763000	0.94921	0.655000	0.94253	CGG		0.403	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		4	82	0	0	0	0	4	82				
C1R	715	broad.mit.edu	37	12	7241888	7241888	+	Splice_Site	SNP	C	C	T	rs112305412		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:7241888C>T	ENST00000542285.1	-	5	915		c.e5+1		C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GACGGCTGTACCTGTAGCTGG	0.592																																						uc010sfy.1		NA																	0					0						c.e5+1		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						86.0	85.0	85.0					12																	7241888		2050	4178	6228	SO:0001630	splice_region_variant	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241888C>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.765+1G>A	12.37:g.7241888C>T						C1R_uc010sfz.1_Splice_Site_p.Q270_splice|C1R_uc010sga.1_Splice_Site_p.Q222_splice	p.Q256_splice	NM_001733	NP_001724	P00736	C1R_HUMAN			5	827	-								A6NJQ8|Q68D77|Q8J012	Splice_Site	SNP	ENST00000542285.1	37	c.768_splice		.	.	.	.	.	.	.	.	.	.	C	15.90	2.968481	0.53614	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7465	0.96253	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1R	7133029	1.000000	0.71417	0.999000	0.59377	0.472000	0.32918	6.796000	0.75145	2.680000	0.91292	0.561000	0.74099	.		0.592	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	Intron	13	20	0	0	0	0	13	20				
SLC2A3	6515	broad.mit.edu	37	12	8083212	8083212	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:8083212C>A	ENST00000075120.7	-	5	777	c.537G>T	c.(535-537)ggG>ggT	p.G179G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	179					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCTCTTCAGACCCAAGGATGA	0.433																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(535-537)GGG>GGT		solute carrier family 2 (facilitated glucose							91.0	90.0	90.0					12																	8083212		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083212C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.537G>T	12.37:g.8083212C>A						SLC2A3_uc001qts.2_Silent_p.G179G	p.G179G	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	799	-			179			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.537G>T	CCDS8586.1																																																																																				0.433	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		25	92	1	0	5.45e-15	7.23e-15	25	92				
PHC1	1911	broad.mit.edu	37	12	9089872	9089872	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:9089872C>T	ENST00000543824.1	+	14	2910	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	PHC1_ENST00000544916.1_Missense_Mutation_p.R860C|PHC1_ENST00000433083.2_Missense_Mutation_p.R815C|PHC1_ENST00000536844.1_Missense_Mutation_p.R466C			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	860					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGGACCCCGCCGCAGCTCCTC	0.522																																						uc001qvd.2		NA																	0				ovary(1)|breast(1)	2						c.(2578-2580)CGC>TGC		polyhomeotic 1-like							20.0	21.0	21.0					12																	9089872		2203	4296	6499	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9089872C>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2578C>T	12.37:g.9089872C>T	ENSP00000440674:p.Arg860Cys					PHC1_uc001qve.2_Missense_Mutation_p.R860C	p.R860C	NM_004426	NP_004417	P78364	PHC1_HUMAN			13	2734	+			860					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2578C>T	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252601	0.59212	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.50548	1.71;1.71;1.69;1.71;0.74	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.60779	0.2295	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62101	-0.6925	10	0.72032	D	0.01	-6.2222	14.0713	0.64861	0.1507:0.8493:0.0:0.0	.	860	P78364	PHC1_HUMAN	C	860;860;815;860;466	ENSP00000440674:R860C;ENSP00000251757:R860C;ENSP00000399194:R815C;ENSP00000437659:R860C;ENSP00000440488:R466C	ENSP00000251757:R860C	R	+	1	0	PHC1	8981139	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	2.158000	0.42329	2.624000	0.88883	0.655000	0.94253	CGC		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	11	0	0	0	0	5	11				
KLRC3	3823	broad.mit.edu	37	12	10569334	10569334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:10569334C>T	ENST00000396439.2	-	5	563	c.519G>A	c.(517-519)tgG>tgA	p.W173*	KLRC3_ENST00000381904.2_Nonsense_Mutation_p.W173*|NKG2-E_ENST00000539033.1_Nonsense_Mutation_p.W173*|KLRC3_ENST00000381903.2_Nonsense_Mutation_p.W173*	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	173	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ACACACCAATCCATGAGGAAG	0.289																																						uc001qyf.2		NA																	0				ovary(2)|skin(1)	3						c.(517-519)TGG>TGA		killer cell lectin-like receptor subfamily C,							60.0	58.0	58.0					12																	10569334		2203	4296	6499	SO:0001587	stop_gained	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10569334C>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.519G>A	12.37:g.10569334C>T	ENSP00000379716:p.Trp173*					KLRC3_uc001qyh.2_Nonsense_Mutation_p.W173*|KLRC3_uc001qyi.1_Nonsense_Mutation_p.W173*	p.W173*	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			5	564	-			173			C-type lectin.|Extracellular (Potential).		Q8WXA4|Q96RL0|Q9UP04	Nonsense_Mutation	SNP	ENST00000396439.2	37	c.519G>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091773	0.36952	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	.	.	.	2.96	2.96	0.34315	.	0.000000	0.35207	N	0.003364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6128	0.39674	0.0:1.0:0.0:0.0	.	.	.	.	X	173	.	ENSP00000371328:W173X	W	-	3	0	KLRC3;RP11-277P12.6	10460601	0.641000	0.27251	0.444000	0.26895	0.014000	0.08584	1.036000	0.30228	1.944000	0.56390	0.650000	0.86243	TGG		0.289	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		25	41	0	0	0	0	25	41				
TAS2R43	259289	broad.mit.edu	37	12	11244286	11244286	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11244286C>T	ENST00000531678.1	-	1	626	c.543G>A	c.(541-543)atG>atA	p.M181I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	181					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AGTTTGCTACCATGGTTACAG	0.368																																						uc001qzq.1		NA																	0				ovary(1)	1						c.(541-543)ATG>ATA		taste receptor, type 2, member 43							115.0	100.0	105.0					12																	11244286		2019	3825	5844	SO:0001583	missense	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11244286C>T	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.543G>A	12.37:g.11244286C>T	ENSP00000431719:p.Met181Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.M181I	NM_176884	NP_795365	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	627	-			181			Helical; Name=5; (Potential).		P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	c.543G>A	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	1.299	-0.605487	0.03717	.	.	ENSG00000255374	ENST00000531678	T	0.33438	1.41	2.01	-4.03	0.04021	.	.	.	.	.	T	0.12689	0.0308	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17048	-1.0382	9	0.35671	T	0.21	.	2.7338	0.05234	0.3567:0.2058:0.0:0.4376	.	181	P59537	T2R43_HUMAN	I	181	ENSP00000431719:M181I	ENSP00000431719:M181I	M	-	3	0	TAS2R43	11135553	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.964000	0.00088	-1.577000	0.01650	0.195000	0.17529	ATG		0.368	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884		59	50	0	0	0	0	59	50				
PRB1	5542	broad.mit.edu	37	12	11506661	11506661	+	Intron	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506661C>T	ENST00000500254.2	-	3	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCTGTTGCCTCCTTGTGGG	0.602																																						uc001qzw.1		NA																	0					0						c.(376-378)GGC>AGC		proline-rich protein BstNI subfamily 1 isoform 1							16.0	14.0	15.0					12																	11506661		1290	2280	3570	SO:0001627	intron_variant	5542					extracellular region		g.chr12:11506661C>T		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.313+62G>A	12.37:g.11506661C>T						PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	p.G126S	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	413	-			187		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	7.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.376G>A	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		139	415	0	0	0	0	139	415				
PRB1	5542	broad.mit.edu	37	12	11506794	11506795	+	Missense_Mutation	DNP	GG	GG	TT	rs142774972		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:11506794_11506795GG>TT	ENST00000500254.2	-	3	279_280	c.242_243CC>AA	c.(241-243)cCC>cAA	p.P81Q	PRB1_ENST00000545626.1_Missense_Mutation_p.P81Q|PRB1_ENST00000546254.1_Missense_Mutation_p.P81Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCCCTTGTGGGGGTGGTCCTTG	0.629																																						uc001qzw.1		NA																	0					0						c.(241-243)CCC>CAA		proline-rich protein BstNI subfamily 1 isoform 1																																				SO:0001583	missense	5542					extracellular region		g.chr12:11506794_11506795GG>TT		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.242_243delinsTT	12.37:g.11506794_11506795delinsTT	ENSP00000420826:p.Pro81Gln					PRB1_uc001qzu.1_Missense_Mutation_p.P81Q|PRB1_uc001qzv.1_Missense_Mutation_p.P81Q	p.P81Q	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	279_280	-			142		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).|Missing (in allele M).	5.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	DNP	ENST00000500254.2	37	c.242_243CC>AA	CCDS8642.1																																																																																				0.629	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		158	365	0	0	0	0	158	365				
ABCC9	10060	broad.mit.edu	37	12	21970133	21970133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:21970133C>A	ENST00000261201.4	-	31	3879	c.3880G>T	c.(3880-3882)Gaa>Taa	p.E1294*	ABCC9_ENST00000261200.4_Nonsense_Mutation_p.E1294*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E1258*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1294					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATTGTGCCTTCATAGTTCTCT	0.378																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(3880-3882)GAA>TAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						144.0	152.0	149.0					12																	21970133		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21970133C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3880G>T	12.37:g.21970133C>A	ENSP00000261201:p.Glu1294*					ABCC9_uc001rfh.2_Nonsense_Mutation_p.E1294*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.E1258*	p.E1294*	NM_005691	NP_005682	O60706	ABCC9_HUMAN			31	3900	-			1294			Cytoplasmic (Potential).		O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.3880G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	42	9.594204	0.99214	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	4.52	4.52	0.55395	.	0.234864	0.43416	D	0.000572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-21.249	17.7929	0.88561	0.0:1.0:0.0:0.0	.	.	.	.	X	1294;921;1294;1258	.	ENSP00000261200:E1294X	E	-	1	0	ABCC9	21861400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.774000	0.68906	2.525000	0.85131	0.650000	0.86243	GAA		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		75	204	1	0	1.43e-55	2.16e-55	75	204				
SYT10	341359	broad.mit.edu	37	12	33538213	33538213	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:33538213A>C	ENST00000228567.3	-	4	1387	c.1091T>G	c.(1090-1092)cTg>cGg	p.L364R	SYT10_ENST00000535526.1_Missense_Mutation_p.L183R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	364					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATTTCACCCAGGTCTATACT	0.398																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(1090-1092)CTG>CGG		synaptotagmin X							101.0	86.0	91.0					12																	33538213		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538213A>C	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1091T>G	12.37:g.33538213A>C	ENSP00000228567:p.Leu364Arg					SYT10_uc009zju.1_Missense_Mutation_p.L174R	p.L364R	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			4	1388	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		364			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1091T>G	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237823	0.79800	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.72505	-0.66;-0.66	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.32488	U	0.006040	D	0.82962	0.5151	M	0.80746	2.51	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.81714	-0.0807	10	0.25106	T	0.35	.	14.1069	0.65096	1.0:0.0:0.0:0.0	.	364	Q6XYQ8	SYT10_HUMAN	R	364;183	ENSP00000228567:L364R;ENSP00000438691:L183R	ENSP00000228567:L364R	L	-	2	0	SYT10	33429480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.568000	0.90741	2.070000	0.61991	0.528000	0.53228	CTG		0.398	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		15	40	0	0	0	0	15	40				
KMT2D	8085	broad.mit.edu	37	12	49420595	49420595	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420595G>A	ENST00000301067.7	-	48	15153	c.15154C>T	c.(15154-15156)Ctg>Ttg	p.L5052L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5052					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCAGGTCCAGGTTCAGCAGA	0.617																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15154-15156)CTG>TTG		myeloid/lymphoid or mixed-lineage leukemia 2							66.0	71.0	70.0					12																	49420595		2120	4219	6339	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420595G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15154C>T	12.37:g.49420595G>A		HNSCC(34;0.089)					p.L5052L	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15154	-			5052					O14687	Silent	SNP	ENST00000301067.7	37	c.15154C>T	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			32	82	0	0	0	0	32	82				
KMT2D	8085	broad.mit.edu	37	12	49420606	49420606	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:49420606C>A	ENST00000301067.7	-	48	15142	c.15143G>T	c.(15142-15144)cGt>cTt	p.R5048L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5048					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4778H(1)									GTTCAGCAGACGGGCAGGCCC	0.617																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Substitution - Missense(1)		central_nervous_system(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(15142-15144)CGT>CTT		myeloid/lymphoid or mixed-lineage leukemia 2							66.0	71.0	69.0					12																	49420606		2120	4217	6337	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49420606C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15143G>T	12.37:g.49420606C>A	ENSP00000301067:p.Arg5048Leu	HNSCC(34;0.089)					p.R5048L	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15143	-			5048					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15143G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789630	0.50102	.	.	ENSG00000167548	ENST00000301067	D	0.83506	-1.73	4.86	4.86	0.63082	.	0.000000	0.39020	N	0.001500	D	0.91626	0.7354	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92924	0.6358	10	0.87932	D	0	.	17.1536	0.86784	0.0:1.0:0.0:0.0	.	5048	O14686	MLL2_HUMAN	L	5048	ENSP00000301067:R5048L	ENSP00000301067:R5048L	R	-	2	0	MLL2	47706873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.775000	0.85489	2.425000	0.82216	0.655000	0.94253	CGT		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			32	83	1	0	1.5e-21	2.12e-21	32	83				
KRT72	140807	broad.mit.edu	37	12	52979793	52979793	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:52979793G>A	ENST00000537672.2	-	9	1519	c.1509C>T	c.(1507-1509)agC>agT	p.S503S	KRT72_ENST00000293745.2_Silent_p.S503S|KRT72_ENST00000354310.4_Silent_p.S461S|KRT72_ENST00000398066.3_Silent_p.S315S	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	503	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGGCACAGCTGCTCCCCG	0.562																																						uc001sar.2		NA																	0				ovary(5)|pancreas(1)	6						c.(1507-1509)AGC>AGT		keratin 72 isoform 1							175.0	157.0	163.0					12																	52979793		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52979793G>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1509C>T	12.37:g.52979793G>A						KRT72_uc001saq.2_Silent_p.S503S|KRT72_uc010sns.1_Silent_p.S461S|KRT72_uc010snt.1_Silent_p.S315S	p.S503S	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1595	-			503			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.1509C>T	CCDS8833.1																																																																																				0.562	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		98	202	0	0	0	0	98	202				
NCKAP1L	3071	broad.mit.edu	37	12	54913116	54913116	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:54913116G>T	ENST00000293373.6	+	16	1704	c.1625G>T	c.(1624-1626)tGc>tTc	p.C542F	NCKAP1L_ENST00000545638.2_Splice_Site_p.C492F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	542					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTACTTTCTGGTATGTCTTG	0.368																																						uc001sgc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1624-1626)TGC>TTC		NCK-associated protein 1-like							113.0	112.0	112.0					12																	54913116		2203	4300	6503	SO:0001630	splice_region_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54913116G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1625+1G>T	12.37:g.54913116G>T						NCKAP1L_uc010sox.1_Missense_Mutation_p.C84F|NCKAP1L_uc010soy.1_Missense_Mutation_p.C492F	p.C542F	NM_005337	NP_005328	P55160	NCKPL_HUMAN			16	1704	+			542					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1625G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503153	0.85176	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35421	1.31;1.31	5.74	5.74	0.90152	.	0.104187	0.64402	D	0.000003	T	0.54967	0.1891	M	0.77486	2.375	0.80722	D	1	D	0.61697	0.99	P	0.56343	0.796	T	0.49781	-0.8903	10	0.21540	T	0.41	-12.7047	17.4128	0.87491	0.0:0.0:1.0:0.0	.	542	P55160	NCKPL_HUMAN	F	542;492	ENSP00000293373:C542F;ENSP00000445596:C492F	ENSP00000293373:C542F	C	+	2	0	NCKAP1L	53199383	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.552000	0.98115	2.712000	0.92718	0.561000	0.74099	TGC		0.368	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation	49	104	1	0	1.58e-09	1.96e-09	49	104				
SMARCC2	6601	broad.mit.edu	37	12	56566376	56566376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:56566376G>A	ENST00000267064.4	-	18	1849	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	SMARCC2_ENST00000394023.3_Missense_Mutation_p.P619L|SMARCC2_ENST00000347471.4_Missense_Mutation_p.P619L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P619L|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	588					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TACCTTGGAGGGAACATTCTT	0.502																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1762-1764)CCC>CTC		SWI/SNF-related matrix-associated							177.0	163.0	168.0					12																	56566376		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566376G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1763C>T	12.37:g.56566376G>A	ENSP00000267064:p.Pro588Leu					SMARCC2_uc001skd.2_Missense_Mutation_p.P619L|SMARCC2_uc001ska.2_Missense_Mutation_p.P619L|SMARCC2_uc001skc.2_Missense_Mutation_p.P618L|SMARCC2_uc010sqf.1_Missense_Mutation_p.P508L	p.P588L	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		18	1869	-			588					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1763C>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638493	0.47153	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.49432	0.78;0.79;0.78	5.17	5.17	0.71159	.	0.131490	0.52532	D	0.000069	T	0.36552	0.0971	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.32829	0.267;0.386;0.267;0.267;0.386	B;B;B;B;B	0.31191	0.059;0.125;0.059;0.059;0.125	T	0.20907	-1.0261	10	0.41790	T	0.15	-10.0117	17.8293	0.88676	0.0:0.0:1.0:0.0	.	508;619;623;588;619	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	L	619;619;619;588	ENSP00000449396:P619L;ENSP00000302919:P619L;ENSP00000267064:P588L	ENSP00000267064:P588L	P	-	2	0	SMARCC2	54852643	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.463000	0.60128	2.575000	0.86900	0.462000	0.41574	CCC		0.502	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			46	100	0	0	0	0	46	100				
DTX3	196403	broad.mit.edu	37	12	58001107	58001107	+	Missense_Mutation	SNP	G	G	T	rs536336747		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:58001107G>T	ENST00000548198.1	+	3	1965	c.461G>T	c.(460-462)cGg>cTg	p.R154L	DTX3_ENST00000337737.3_Missense_Mutation_p.R154L|DTX3_ENST00000548804.1_Missense_Mutation_p.R154L|DTX3_ENST00000551632.1_Missense_Mutation_p.R157L|ARHGEF25_ENST00000333972.7_5'Flank			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	154					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					cctcgccttcGGGAGGAGGCA	0.672																																						uc001sow.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(460-462)CGG>CTG		deltex homolog 3							12.0	12.0	12.0					12																	58001107		1826	4057	5883	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58001107G>T	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.461G>T	12.37:g.58001107G>T	ENSP00000447873:p.Arg154Leu					DTX3_uc001sov.1_Missense_Mutation_p.R147L|DTX3_uc001sox.1_Missense_Mutation_p.R147L|DTX3_uc001soy.1_Missense_Mutation_p.R147L|GEFT_uc009zpy.2_5'Flank|GEFT_uc001soz.1_5'Flank	p.R154L	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN			5	798	+	Melanoma(17;0.122)		154					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.461G>T	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643773	0.29246	.	.	ENSG00000178498	ENST00000548804;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.47869	1.39;0.83;1.39;1.39;1.39;0.85	3.66	3.66	0.41972	.	0.330179	0.27298	N	0.020010	T	0.27629	0.0679	N	0.08118	0	0.40948	D	0.984529	P	0.46578	0.88	B	0.42851	0.4	T	0.05989	-1.0852	10	0.27082	T	0.32	-12.6496	11.1596	0.48507	0.0:0.0:1.0:0.0	.	154	Q8N9I9	DTX3_HUMAN	L	154;157;154;154;157;147	ENSP00000449294:R154L;ENSP00000449688:R157L;ENSP00000338050:R154L;ENSP00000447873:R154L;ENSP00000448696:R157L;ENSP00000448224:R147L	ENSP00000338050:R154L	R	+	2	0	DTX3	56287374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.679000	0.68160	2.081000	0.62600	0.543000	0.68304	CGG		0.672	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		5	21	1	0	1.24e-05	1.42e-05	5	21				
TRHDE	29953	broad.mit.edu	37	12	72955994	72955994	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:72955994G>T	ENST00000261180.4	+	8	1799	c.1703G>T	c.(1702-1704)tGg>tTg	p.W568L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	568					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						AATGATCTCTGGAATACATTA	0.289																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1702-1704)TGG>TTG		thyrotropin-releasing hormone degrading enzyme							41.0	43.0	42.0					12																	72955994		2199	4272	6471	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955994G>T	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.1703G>T	12.37:g.72955994G>T	ENSP00000261180:p.Trp568Leu						p.W568L	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			8	1733	+			568			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1703G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616317	0.87359	.	.	ENSG00000072657	ENST00000261180	T	0.04194	3.68	5.98	5.98	0.97165	.	0.059765	0.64402	D	0.000001	T	0.27798	0.0684	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00415	-1.1753	10	0.54805	T	0.06	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	568	Q9UKU6	TRHDE_HUMAN	L	568	ENSP00000261180:W568L	ENSP00000261180:W568L	W	+	2	0	TRHDE	71242261	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.215000	0.77966	2.838000	0.97847	0.591000	0.81541	TGG		0.289	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		26	37	1	0	0.000227799	0.000252915	26	37				
CAPS2	84698	broad.mit.edu	37	12	75692714	75692714	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:75692714C>A	ENST00000409445.3	-	11	1140	c.944G>T	c.(943-945)gGg>gTg	p.G315V	CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.G83V|CAPS2_ENST00000442339.2_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	315							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAAAAAGAACCCAATGAGCTC	0.313																																						uc001sxk.3		NA																	0				ovary(2)	2						c.(943-945)GGG>GTG		calcyphosine 2							84.0	83.0	83.0					12																	75692714		2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75692714C>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.944G>T	12.37:g.75692714C>A	ENSP00000386959:p.Gly315Val					CAPS2_uc001sxm.3_Missense_Mutation_p.G83V|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.G296V	p.G315V	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			11	1141	-			315					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.944G>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190771	0.78789	.	.	ENSG00000180881	ENST00000409445;ENST00000393284	T;T	0.74002	-0.8;-0.55	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87633	0.6226	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.987	D	0.88398	0.3013	10	0.72032	D	0.01	-9.6696	19.6814	0.95965	0.0:1.0:0.0:0.0	.	83;315	Q9BXY5-2;Q9BXY5	.;CAYP2_HUMAN	V	315;83	ENSP00000386959:G315V;ENSP00000376963:G83V	ENSP00000376963:G83V	G	-	2	0	CAPS2	73978981	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	5.901000	0.69861	2.665000	0.90641	0.643000	0.83706	GGG		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			23	47	1	0	1.11e-12	1.43e-12	23	47				
CCER1	196477	broad.mit.edu	37	12	91347314	91347314	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:91347314C>G	ENST00000358859.2	-	1	1639	c.1206G>C	c.(1204-1206)caG>caC	p.Q402H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	402																	AGTTAAAGTCCTGTGCCATGA	0.373																																						uc001tbj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1204-1206)CAG>CAC		hypothetical protein LOC196477							74.0	79.0	77.0					12																	91347314		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347314C>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1206G>C	12.37:g.91347314C>G	ENSP00000351727:p.Gln402His						p.Q402H	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	1640	-			402					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.1206G>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	5.083	0.201055	0.09652	.	.	ENSG00000197651	ENST00000358859	T	0.23552	1.9	5.31	1.43	0.22495	.	1.366660	0.05501	N	0.558447	T	0.30854	0.0778	N	0.24115	0.695	0.09310	N	0.999998	D	0.60160	0.987	P	0.60473	0.875	T	0.18085	-1.0348	10	0.54805	T	0.06	-0.9003	4.7674	0.13139	0.0:0.5854:0.1563:0.2584	.	402	Q8TC90	CL012_HUMAN	H	402	ENSP00000351727:Q402H	ENSP00000351727:Q402H	Q	-	3	2	C12orf12	89871445	0.942000	0.31987	0.335000	0.25508	0.214000	0.24535	-0.043000	0.12043	0.086000	0.17137	0.591000	0.81541	CAG		0.373	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		7	111	0	0	0	0	7	111				
PLEKHG7	440107	broad.mit.edu	37	12	93134644	93134644	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:93134644C>A	ENST00000344636.3	+	3	203	c.19C>A	c.(19-21)Cta>Ata	p.L7I	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.L7I	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	7	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TATGAATACACTAAGATATCT	0.313																																						uc001tcj.2		NA																	0				ovary(1)	1						c.(19-21)CTA>ATA		pleckstrin homology domain containing, family G							62.0	63.0	63.0					12																	93134644		2203	4300	6503	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93134644C>A	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.19C>A	12.37:g.93134644C>A	ENSP00000344961:p.Leu7Ile						p.L7I	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			3	249	+			7			DH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.19C>A	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396490	0.62177	.	.	ENSG00000187510	ENST00000344636	T	0.70045	-0.45	5.7	-1.69	0.08186	Dbl homology (DH) domain (3);	0.000000	0.64402	D	0.000001	T	0.79370	0.4434	M	0.84082	2.675	0.44110	D	0.996881	D	0.89917	1.0	D	0.97110	1.0	T	0.79155	-0.1920	10	0.72032	D	0.01	-10.527	11.8771	0.52554	0.0:0.461:0.0:0.539	.	7	Q6ZR37	PKHG7_HUMAN	I	7	ENSP00000344961:L7I	ENSP00000344961:L7I	L	+	1	2	PLEKHG7	91658775	0.114000	0.22134	0.980000	0.43619	0.903000	0.53119	-0.125000	0.10579	-0.392000	0.07751	-0.254000	0.11334	CTA		0.313	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		26	53	1	0	2.28e-19	3.17e-19	26	53				
ANO4	121601	broad.mit.edu	37	12	101365164	101365164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:101365164G>A	ENST00000392977.3	+	6	747	c.537G>A	c.(535-537)atG>atA	p.M179I	ANO4_ENST00000392979.3_Missense_Mutation_p.M144I|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.M345I			Q32M45	ANO4_HUMAN	anoctamin 4	179					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAGAACAAATGAATGTAAGAA	0.368										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(535-537)ATG>ATA		anoctamin 4							147.0	145.0	146.0					12																	101365164		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101365164G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.537G>A	12.37:g.101365164G>A	ENSP00000376703:p.Met179Ile	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.M144I|ANO4_uc001thx.2_Missense_Mutation_p.M179I	p.M179I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			6	1109	+			179			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.537G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.725074	0.89298	.	.	ENSG00000151572	ENST00000538618;ENST00000392979;ENST00000392977	T;T;T	0.67171	-0.25;-0.25;-0.25	5.41	5.41	0.78517	.	0.052739	0.64402	D	0.000001	T	0.72036	0.3411	M	0.76938	2.355	0.80722	D	1	P;P	0.41420	0.633;0.749	B;B	0.40825	0.184;0.341	T	0.77368	-0.2614	10	0.72032	D	0.01	.	19.189	0.93656	0.0:0.0:1.0:0.0	.	179;144	Q32M45;Q32M45-2	ANO4_HUMAN;.	I	345;144;179	ENSP00000443751:M345I;ENSP00000376705:M144I;ENSP00000376703:M179I	ENSP00000376703:M179I	M	+	3	0	ANO4	99889295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.199000	0.95003	2.540000	0.85666	0.563000	0.77884	ATG		0.368	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		37	74	0	0	0	0	37	74				
FOXN4	121643	broad.mit.edu	37	12	109723196	109723196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:109723196G>T	ENST00000299162.5	-	8	918	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	FOXN4_ENST00000355216.1_Missense_Mutation_p.L92M	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	272					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						ATGCGGGCCAGGTTCAGAGCC	0.607																																						uc001toe.3		NA																	0				ovary(1)|lung(1)	2						c.(814-816)CTG>ATG		forkhead box N4							83.0	68.0	73.0					12																	109723196		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109723196G>T	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.814C>A	12.37:g.109723196G>T	ENSP00000299162:p.Leu272Met					FOXN4_uc009zvg.2_Missense_Mutation_p.L69M|FOXN4_uc001tof.3_Missense_Mutation_p.L92M	p.L272M	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			8	919	-			272			Fork-head.		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.814C>A	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.536641|1.536641	0.27475|0.27475	.|.	.|.	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95447|.	-3.71;-3.71|.	4.71|4.71	1.84|1.84	0.25277|0.25277	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.127409|.	0.53938|.	D|.	0.000051|.	T|T	0.44244|0.44244	0.1284|0.1284	L|L	0.27053|0.27053	0.805|0.805	0.38627|0.38627	D|D	0.951281|0.951281	P;P|.	0.36222|.	0.544;0.544|.	P;P|.	0.53988|.	0.739;0.653|.	T|T	0.43294|0.43294	-0.9400|-0.9400	10|6	0.87932|0.87932	D|D	0|0	-10.5584|-10.5584	7.4146|7.4146	0.27036|0.27036	0.1554:0.1376:0.707:0.0|0.1554:0.1376:0.707:0.0	.|.	272;272|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	M|H	92;272|230	ENSP00000347354:L92M;ENSP00000299162:L272M|.	ENSP00000299162:L272M|ENSP00000266856:P230H	L|P	-|-	1|2	2|0	FOXN4|FOXN4	108207579|108207579	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.917000|0.917000	0.54804|0.54804	4.855000|4.855000	0.62925|0.62925	0.160000|0.160000	0.19432|0.19432	-0.266000|-0.266000	0.10368|0.10368	CTG|CCT		0.607	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		16	31	1	0	0.00074312	0.000807118	16	31				
RASAL1	8437	broad.mit.edu	37	12	113543660	113543660	+	Silent	SNP	C	C	A	rs201231208	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:113543660C>A	ENST00000261729.5	-	17	2001	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P	RASAL1_ENST00000446861.3_Silent_p.P562P|RASAL1_ENST00000546530.1_Silent_p.P564P|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.P563P			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	562					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCCGAGGGCGGGAACAGGG	0.622																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(1684-1686)CCG>CCT		RAS protein activator like 1							57.0	62.0	60.0					12																	113543660		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113543660C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1686G>T	12.37:g.113543660C>A						RASAL1_uc010syp.1_Silent_p.P563P|RASAL1_uc001tul.2_Silent_p.P562P|RASAL1_uc001tun.1_Silent_p.P564P|RASAL1_uc010syq.1_Silent_p.P563P|RASAL1_uc001tuo.3_Silent_p.P563P	p.P562P	NM_004658	NP_004649	O95294	RASL1_HUMAN			17	1979	-			562					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.1686G>T	CCDS9165.1																																																																																				0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		31	99	1	0	1.62e-16	2.18e-16	31	99				
SLC15A4	121260	broad.mit.edu	37	12	129294620	129294620	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129294620T>C	ENST00000266771.5	-	3	918	c.879A>G	c.(877-879)caA>caG	p.Q293Q	SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	293					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAACAGACTTTGTTTAGAAG	0.393																																						uc001uhu.2		NA																	0					0						c.(877-879)CAA>CAG		solute carrier family 15, member 4							118.0	114.0	115.0					12																	129294620		2203	4300	6503	SO:0001819	synonymous_variant	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129294620T>C	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.879A>G	12.37:g.129294620T>C						SLC15A4_uc001uhv.2_Intron	p.Q293Q	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	3	932	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		293					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Silent	SNP	ENST00000266771.5	37	c.879A>G	CCDS9264.1																																																																																				0.393	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		46	93	0	0	0	0	46	93				
GLT1D1	144423	broad.mit.edu	37	12	129360582	129360582	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:129360582C>G	ENST00000442111.2	+	2	280	c.192C>G	c.(190-192)ctC>ctG	p.L64L	GLT1D1_ENST00000537468.1_Silent_p.L53L|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Silent_p.L64L			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	64					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTCTTCATCTCTATAGGGGAG	0.448																																						uc010tbh.1		NA																	0					0						c.(157-159)CTC>CTG		glycosyltransferase 1 domain containing 1							135.0	140.0	138.0					12																	129360582		2203	4300	6503	SO:0001819	synonymous_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360582C>G		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.192C>G	12.37:g.129360582C>G						GLT1D1_uc001uhx.1_Silent_p.L64L|GLT1D1_uc001uhy.1_RNA	p.L53L	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	168	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		64					Q86XG8	Silent	SNP	ENST00000442111.2	37	c.159C>G																																																																																					0.448	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		82	183	0	0	0	0	82	183				
TMEM132D	121256	broad.mit.edu	37	12	130185032	130185032	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:130185032G>A	ENST00000422113.2	-	2	617	c.291C>T	c.(289-291)taC>taT	p.Y97Y	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	97					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Y97Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAAGGCCCGTAGCTGGCAT	0.488																																						uc009zyl.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(289-291)TAC>TAT		transmembrane protein 132D precursor							65.0	65.0	65.0					12																	130185032		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185032G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.291C>T	12.37:g.130185032G>A							p.Y97Y	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	619	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	97			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.291C>T	CCDS9266.1																																																																																				0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		30	52	0	0	0	0	30	52				
POLE	5426	broad.mit.edu	37	12	133212601	133212601	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr12:133212601T>C	ENST00000320574.5	-	42	5731	c.5688A>G	c.(5686-5688)tcA>tcG	p.S1896S	POLE_ENST00000535270.1_Silent_p.S1869S|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1896					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGGTCTCCTTTGAATGGATGC	0.428								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(5686-5688)TCA>TCG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							92.0	84.0	86.0					12																	133212601		2203	4300	6503	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133212601T>C		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5688A>G	12.37:g.133212601T>C						POLE_uc001ukq.1_Silent_p.S106S|POLE_uc001ukr.1_Silent_p.S700S|POLE_uc010tbq.1_RNA	p.S1896S	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	42	5732	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1896					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.5688A>G	CCDS9278.1																																																																																				0.428	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		25	57	0	0	0	0	25	57				
AMER2	219287	broad.mit.edu	37	13	25744108	25744108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:25744108G>T	ENST00000515384.1	-	1	2317	c.1650C>A	c.(1648-1650)taC>taA	p.Y550*	AMER2_ENST00000381853.3_Nonsense_Mutation_p.Y431*|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Nonsense_Mutation_p.Y431*			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	550					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										CGTCCCCGCTGTAGCTATCCC	0.642																																						uc001uqb.2		NA																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1648-1650)TAC>TAA		hypothetical protein LOC219287 isoform 1							61.0	60.0	60.0					13																	25744108		2203	4300	6503	SO:0001587	stop_gained	219287							g.chr13:25744108G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1650C>A	13.37:g.25744108G>T	ENSP00000426528:p.Tyr550*					FAM123A_uc001uqa.2_Nonsense_Mutation_p.Y431*|FAM123A_uc001uqc.2_Nonsense_Mutation_p.Y431*	p.Y550*	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1750	-		Lung SC(185;0.0225)|Breast(139;0.0602)	550					Q5RL80|Q5VX56|Q8N593|Q96NN5	Nonsense_Mutation	SNP	ENST00000515384.1	37	c.1650C>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	43	10.029545	0.99320	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	.	.	.	5.37	4.53	0.55603	.	0.569778	0.19875	N	0.104114	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-6.7799	9.3088	0.37891	0.162:0.0:0.838:0.0	.	.	.	.	X	431;431;550	.	ENSP00000350469:Y431X	Y	-	3	2	FAM123A	24642108	1.000000	0.71417	0.890000	0.34922	0.620000	0.37586	4.027000	0.57239	1.267000	0.44247	0.561000	0.74099	TAC		0.642	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		41	23	1	0	9.63e-15	1.28e-14	41	23				
ATP8A2	51761	broad.mit.edu	37	13	26542750	26542750	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:26542750G>C	ENST00000381655.2	+	35	3452	c.3310G>C	c.(3310-3312)Gtg>Ctg	p.V1104L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.V1039L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1064					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTGGAGGAGGTGCAGGAGCT	0.522																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3310-3312)GTG>CTG		ATPase, aminophospholipid transporter-like,							77.0	83.0	81.0					13																	26542750		1985	4170	6155	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26542750G>C	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3310G>C	13.37:g.26542750G>C	ENSP00000371070:p.Val1104Leu					ATP8A2_uc010tdi.1_Missense_Mutation_p.V1039L|ATP8A2_uc010tdj.1_RNA	p.V1104L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	35	3452	+		Breast(139;0.0201)|Lung SC(185;0.0225)	1064			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.3310G>C	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176516	0.78564	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.65178	-0.14;-0.14	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.72382	0.3453	M	0.77313	2.365	0.47819	D	0.999529	P;B	0.35793	0.521;0.117	B;B	0.43274	0.414;0.134	T	0.74284	-0.3715	10	0.62326	D	0.03	.	19.372	0.94492	0.0:0.0:1.0:0.0	.	1039;1064	B7Z880;Q9NTI2	.;AT8A2_HUMAN	L	1104;1039;884	ENSP00000371070:V1104L;ENSP00000255283:V1039L	ENSP00000255283:V1039L	V	+	1	0	ATP8A2	25440750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.046000	0.76592	2.692000	0.91855	0.655000	0.94253	GTG		0.522	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		6	11	0	0	0	0	6	11				
KBTBD6	89890	broad.mit.edu	37	13	41706215	41706215	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:41706215A>T	ENST00000379485.1	-	1	667	c.433T>A	c.(433-435)Tac>Aac	p.Y145N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y79N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	145										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GAGGCCGCGTACAGGCGCTCC	0.597																																						uc001uxu.1		NA																	0				ovary(1)|skin(1)	2						c.(433-435)TAC>AAC		kelch repeat and BTB (POZ) domain-containing 6							101.0	90.0	94.0					13																	41706215		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706215A>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.433T>A	13.37:g.41706215A>T	ENSP00000368799:p.Tyr145Asn					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.Y79N|uc001uxv.1_5'Flank	p.Y145N	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	722	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	145					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.433T>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	a	13.73	2.325341	0.41197	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.67523	-0.27;-0.27	3.9	3.9	0.45041	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.79423	0.4443	M	0.78801	2.425	0.44221	D	0.997058	D;D	0.76494	0.999;0.996	D;D	0.71184	0.972;0.952	T	0.81913	-0.0715	10	0.87932	D	0	.	10.9924	0.47557	1.0:0.0:0.0:0.0	.	79;145	F5GZN7;Q86V97	.;KBTB6_HUMAN	N	145;79	ENSP00000368799:Y145N;ENSP00000444326:Y79N	ENSP00000368799:Y145N	Y	-	1	0	KBTBD6	40604215	0.997000	0.39634	0.984000	0.44739	0.232000	0.25224	2.975000	0.49281	1.782000	0.52362	0.260000	0.18958	TAC		0.597	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		35	40	0	0	0	0	35	40				
PCDH17	27253	broad.mit.edu	37	13	58208987	58208987	+	Silent	SNP	G	G	T	rs77228191		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:58208987G>T	ENST00000377918.3	+	1	2333	c.2307G>T	c.(2305-2307)ctG>ctT	p.L769L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	769					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCATGCTGGTGCAGAGCG	0.572																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2305-2307)CTG>CTT		protocadherin 17 precursor							108.0	99.0	102.0					13																	58208987		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208987G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2307G>T	13.37:g.58208987G>T						PCDH17_uc010aec.1_Silent_p.L769L	p.L769L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3199	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	769			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2307G>T	CCDS31986.1																																																																																				0.572	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		19	25	1	0	8.01e-06	9.29e-06	19	25				
KLHL1	57626	broad.mit.edu	37	13	70549883	70549883	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:70549883A>G	ENST00000377844.4	-	2	1308	c.549T>C	c.(547-549)agT>agC	p.S183S	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	183					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCAGAGCTACTGGAGTCCA	0.403																																						uc001vip.2		NA																	0					0						c.(547-549)AGT>AGC		kelch-like 1 protein							144.0	129.0	134.0					13																	70549883		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549883A>G	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.549T>C	13.37:g.70549883A>G						KLHL1_uc010thm.1_Intron	p.S183S	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1343	-		Breast(118;0.000162)	183					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.549T>C	CCDS9445.1																																																																																				0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		45	54	0	0	0	0	45	54				
NALCN	259232	broad.mit.edu	37	13	101910914	101910914	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr13:101910914C>T	ENST00000251127.6	-	11	1227	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.R382R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	382					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAACGGATGACCGCATCATTT	0.463																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1144-1146)CGG>CGA		voltage gated channel like 1							65.0	57.0	60.0					13																	101910914		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101910914C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1146G>A	13.37:g.101910914C>T						NALCN_uc001voy.2_Silent_p.R97R|NALCN_uc001voz.2_Silent_p.R382R|NALCN_uc001vpa.2_Silent_p.R382R	p.R382R	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			11	1335	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		382			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.1146G>A	CCDS9498.1																																																																																				0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		12	20	0	0	0	0	12	20				
MMP14	4323	broad.mit.edu	37	14	23313040	23313040	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:23313040C>T	ENST00000311852.6	+	6	1233	c.972C>T	c.(970-972)gaC>gaT	p.D324D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	324					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GGAACTTTGACACCGTGGCCA	0.557																																						uc001whc.2		NA																	0					0						c.(970-972)GAC>GAT		matrix metalloproteinase 14 preproprotein							112.0	115.0	114.0					14																	23313040		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313040C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.972C>T	14.37:g.23313040C>T							p.D324D	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	6	1206	+	all_cancers(95;9.47e-05)		324			Hemopexin-like 1.|Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.972C>T	CCDS9577.1																																																																																				0.557	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		51	153	0	0	0	0	51	153				
NYNRIN	57523	broad.mit.edu	37	14	24884816	24884816	+	Silent	SNP	C	C	G	rs566510965	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:24884816C>G	ENST00000382554.3	+	9	4179	c.3861C>G	c.(3859-3861)ccC>ccG	p.P1287P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1287					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.P1287P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTCACCCCCGCGGCCTCCA	0.622																																						uc001wpf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3859-3861)CCC>CCG		hypothetical protein LOC57523							74.0	79.0	77.0					14																	24884816		2039	4173	6212	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884816C>G	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3861C>G	14.37:g.24884816C>G							p.P1287P	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	4179	+			1287					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3861C>G	CCDS45090.1																																																																																				0.622	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			38	89	0	0	0	0	38	89				
PRKD1	5587	broad.mit.edu	37	14	30066892	30066892	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:30066892G>T	ENST00000331968.5	-	16	2468	c.2239C>A	c.(2239-2241)Ccc>Acc	p.P747T	PRKD1_ENST00000415220.2_Missense_Mutation_p.P755T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	747	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGTAAGCGGGGGTACCCACC	0.493																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2239-2241)CCC>ACC		protein kinase D1							91.0	89.0	90.0					14																	30066892		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066892G>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2239C>A	14.37:g.30066892G>T	ENSP00000333568:p.Pro747Thr						p.P747T	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2420	-	Hepatocellular(127;0.0604)		747			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2239C>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846715	0.91277	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.84800	-1.9;-1.9	5.72	5.72	0.89469	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	0.92136	0.7507	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92057	0.5653	10	0.87932	D	0	-18.2347	20.2504	0.98404	0.0:0.0:1.0:0.0	.	747	Q15139	KPCD1_HUMAN	T	747;755	ENSP00000333568:P747T;ENSP00000390535:P755T	ENSP00000333568:P747T	P	-	1	0	PRKD1	29136643	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.813000	0.99286	2.850000	0.98022	0.650000	0.86243	CCC		0.493	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		39	84	1	0	7.05e-23	1e-22	39	84				
NPAS3	64067	broad.mit.edu	37	14	34269516	34269516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:34269516C>A	ENST00000356141.4	+	12	2003	c.2003C>A	c.(2002-2004)cCg>cAg	p.P668Q	NPAS3_ENST00000551492.1_Missense_Mutation_p.P673Q|NPAS3_ENST00000548645.1_Missense_Mutation_p.P638Q|NPAS3_ENST00000346562.2_Missense_Mutation_p.P636Q|NPAS3_ENST00000357798.5_Missense_Mutation_p.P655Q			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	668					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAACTACCCGCCCAACCGG	0.622																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(2002-2004)CCG>CAG		neuronal PAS domain protein 3 isoform 3							73.0	75.0	74.0					14																	34269516		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269516C>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2003C>A	14.37:g.34269516C>A	ENSP00000348460:p.Pro668Gln					NPAS3_uc001wrs.2_Missense_Mutation_p.P655Q|NPAS3_uc001wrt.2_Missense_Mutation_p.P636Q|NPAS3_uc001wrv.2_Missense_Mutation_p.P638Q	p.P668Q	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	2067	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		668					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2003C>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291683	0.40594	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71579	-0.58;3.18;3.19;3.19;3.18;3.04	4.97	4.08	0.47627	.	0.122741	0.56097	D	0.000036	T	0.68933	0.3055	N	0.24115	0.695	0.80722	D	1	D;P;D;D	0.53885	0.963;0.938;0.963;0.963	P;P;P;P	0.55545	0.778;0.604;0.778;0.778	T	0.71632	-0.4534	10	0.56958	D	0.05	.	13.4753	0.61306	0.0:0.9233:0.0:0.0767	.	638;668;636;655	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	Q	642;673;636;638;668;655	ENSP00000448373:P642Q;ENSP00000450392:P673Q;ENSP00000319610:P636Q;ENSP00000448916:P638Q;ENSP00000348460:P668Q;ENSP00000350446:P655Q	ENSP00000319610:P636Q	P	+	2	0	NPAS3	33339267	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.364000	0.79526	1.059000	0.40554	0.555000	0.69702	CCG		0.622	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			29	85	1	0	2.85e-18	3.9e-18	29	85				
MDGA2	161357	broad.mit.edu	37	14	47530772	47530772	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:47530772T>A	ENST00000399232.2	-	7	1362	c.998A>T	c.(997-999)aAa>aTa	p.K333I	MDGA2_ENST00000357362.3_Missense_Mutation_p.K104I|MDGA2_ENST00000426342.1_Missense_Mutation_p.K104I|MDGA2_ENST00000439988.3_Missense_Mutation_p.K402I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333					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						AAATCGTCCTTTTTTTAATGC	0.348																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(997-999)AAA>ATA		MAM domain containing 1 isoform 1							52.0	48.0	49.0					14																	47530772		1821	4082	5903	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530772T>A	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.998A>T	14.37:g.47530772T>A	ENSP00000382178:p.Lys333Ile					MDGA2_uc001wwi.3_Missense_Mutation_p.K104I|MDGA2_uc010ani.2_5'UTR	p.K333I	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1194	-			333					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.998A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.37|16.37	3.103131|3.103131	0.56183|0.56183	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|T	0.65364|0.63096	-0.01;0.22;-0.15;0.22|-0.02	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.53938|0.53938	U|U	0.000042|0.000042	T|T	0.60599|0.60599	0.2281|0.2281	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.66847|.	0.947|.	T|T	0.57225|0.57225	-0.7848|-0.7848	10|7	0.56958|.	D|.	0.05|.	.|.	15.6463|15.6463	0.77055|0.77055	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	333|.	Q7Z553|.	MDGA2_HUMAN|.	I|N	333;104;402;104|107	ENSP00000400011:K333I;ENSP00000405456:K104I;ENSP00000382178:K402I;ENSP00000349925:K104I|ENSP00000450827:K107N	ENSP00000349925:K104I|.	K|K	-|-	2|3	0|2	MDGA2|MDGA2	46600522|46600522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.915000|5.915000	0.69973|0.69973	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	35	0	0	0	0	12	35				
WDHD1	11169	broad.mit.edu	37	14	55448358	55448358	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:55448358C>A	ENST00000360586.3	-	16	2028	c.1963G>T	c.(1963-1965)Ggt>Tgt	p.G655C	WDHD1_ENST00000359167.4_Missense_Mutation_p.G173C|WDHD1_ENST00000420358.2_Missense_Mutation_p.G532C|WDHD1_ENST00000421192.1_Missense_Mutation_p.G532C	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	655					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CACGTATTACCAAGTCCTCTG	0.413																																						uc001xbm.1		NA																	0				skin(1)	1						c.(1963-1965)GGT>TGT		WD repeat and HMG-box DNA binding protein 1							119.0	104.0	109.0					14																	55448358		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55448358C>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1963G>T	14.37:g.55448358C>A	ENSP00000353793:p.Gly655Cys					WDHD1_uc010aom.1_Missense_Mutation_p.G172C|WDHD1_uc001xbn.1_Missense_Mutation_p.G532C	p.G655C	NM_007086	NP_009017	O75717	WDHD1_HUMAN			16	2041	-			655					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1963G>T	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357471	0.61293	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.67698	0.08;0.51;-0.28	5.71	5.71	0.89125	.	0.285152	0.38720	N	0.001583	T	0.69324	0.3098	M	0.62154	1.92	0.80722	D	1	P;B	0.50369	0.934;0.148	B;B	0.43194	0.411;0.183	T	0.73845	-0.3854	10	0.66056	D	0.02	-6.1683	19.9281	0.97110	0.0:1.0:0.0:0.0	.	173;655	F8W7P7;O75717	.;WDHD1_HUMAN	C	655;173;532	ENSP00000353793:G655C;ENSP00000352085:G173C;ENSP00000391049:G532C	ENSP00000352085:G173C	G	-	1	0	WDHD1	54518108	1.000000	0.71417	0.766000	0.31476	0.846000	0.48090	7.617000	0.83032	2.708000	0.92522	0.585000	0.79938	GGT		0.413	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		25	68	1	0	3.29e-13	4.28e-13	25	68				
MTHFD1	4522	broad.mit.edu	37	14	64891613	64891613	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:64891613C>T	ENST00000545908.1	+	9	1216	c.987C>T	c.(985-987)ggC>ggT	p.G329G	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.G273G			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	273	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTGTTCCTGGCGGCGTAGGGC	0.458																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NA																	0				ovary(2)	2						c.(817-819)GGC>GGT		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						107.0	86.0	93.0					14																	64891613		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64891613C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.987C>T	14.37:g.64891613C>T						MTHFD1_uc010aqe.2_Silent_p.G309G|MTHFD1_uc010aqf.2_Silent_p.G329G	p.G273G	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	9	1206	+			273			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.|Substrate binding.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.819C>T																																																																																					0.458	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			20	56	0	0	0	0	20	56				
SLC8A3	6547	broad.mit.edu	37	14	70633591	70633591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:70633591A>G	ENST00000381269.2	-	2	2302	c.1549T>C	c.(1549-1551)Tgt>Cgt	p.C517R	SLC8A3_ENST00000528359.1_Missense_Mutation_p.C517R|SLC8A3_ENST00000356921.2_Missense_Mutation_p.C517R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.C517R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.C517R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	517					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGCCACACAAGGGGAGGCT	0.502																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1549-1551)TGT>CGT		solute carrier family 8 (sodium/calcium							59.0	59.0	59.0					14																	70633591		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633591A>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1549T>C	14.37:g.70633591A>G	ENSP00000370669:p.Cys517Arg					SLC8A3_uc001xlw.2_Missense_Mutation_p.C517R|SLC8A3_uc001xlx.2_Missense_Mutation_p.C517R|SLC8A3_uc001xlz.2_Missense_Mutation_p.C517R|SLC8A3_uc010ara.2_RNA	p.C517R	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2303	-			517			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1549T>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	2.702	-0.270672	0.05716	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.69	5.69	0.88448	.	0.393153	0.31673	N	0.007247	T	0.23330	0.0564	N	0.08118	0	0.53688	D	0.99997	B;B;B;B	0.20164	0.018;0.01;0.026;0.042	B;B;B;B	0.27170	0.053;0.024;0.029;0.077	T	0.08785	-1.0705	10	0.25106	T	0.35	.	15.9438	0.79779	1.0:0.0:0.0:0.0	.	517;517;517;517	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	R	517	ENSP00000349392:C517R;ENSP00000370669:C517R;ENSP00000350560:C517R;ENSP00000436688:C517R;ENSP00000433531:C517R	ENSP00000349392:C517R	C	-	1	0	SLC8A3	69703344	0.680000	0.27605	1.000000	0.80357	0.994000	0.84299	2.104000	0.41815	2.159000	0.67721	0.528000	0.53228	TGT		0.502	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			27	65	0	0	0	0	27	65				
SIPA1L1	26037	broad.mit.edu	37	14	72200507	72200507	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:72200507A>G	ENST00000555818.1	+	19	5397	c.5049A>G	c.(5047-5049)gtA>gtG	p.V1683V	SIPA1L1_ENST00000358550.2_Silent_p.V1662V|SIPA1L1_ENST00000381232.3_Silent_p.V1662V|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Silent_p.V1137V	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1683					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAACCTGGTAGATGCTGCCA	0.587																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(5047-5049)GTA>GTG		signal-induced proliferation-associated 1 like							94.0	73.0	80.0					14																	72200507		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72200507A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5049A>G	14.37:g.72200507A>G						SIPA1L1_uc001xmt.2_Silent_p.V1662V|SIPA1L1_uc001xmu.2_Silent_p.V1662V|SIPA1L1_uc001xmv.2_Silent_p.V1683V|SIPA1L1_uc010ttm.1_Silent_p.V1137V|SIPA1L1_uc001xmw.2_Silent_p.V448V	p.V1683V	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	19	5397	+			1683					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.5049A>G	CCDS9807.1																																																																																				0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		21	42	0	0	0	0	21	42				
AREL1	9870	broad.mit.edu	37	14	75150018	75150018	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:75150018G>A	ENST00000356357.4	-	5	977	c.462C>T	c.(460-462)taC>taT	p.Y154Y	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	154					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Y154*(1)									AAATTTTGTAGTAGGGACTAT	0.403																																						uc001xqb.2		NA																	1	Substitution - Nonsense(1)		autonomic_ganglia(1)	ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(460-462)TAC>TAT		hypothetical protein LOC9870							82.0	80.0	81.0					14																	75150018		1838	4090	5928	SO:0001819	synonymous_variant	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75150018G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.462C>T	14.37:g.75150018G>A						KIAA0317_uc010tut.1_5'UTR|KIAA0317_uc001xqc.2_Silent_p.Y154Y|KIAA0317_uc001xqd.1_RNA	p.Y154Y	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	5	967	-			154			Filamin.		B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	ENST00000356357.4	37	c.462C>T	CCDS41971.1																																																																																				0.403	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		30	78	0	0	0	0	30	78				
SAMD15	161394	broad.mit.edu	37	14	77845409	77845409	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:77845409G>A	ENST00000216471.4	+	1	1934	c.1648G>A	c.(1648-1650)Gtt>Att	p.V550I	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	550	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCAGAGGAAGTTGCAGAGTG	0.428																																						uc001xtq.1		NA																	0					0						c.(1648-1650)GTT>ATT		hypothetical protein LOC161394							71.0	68.0	69.0					14																	77845409		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77845409G>A	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1648G>A	14.37:g.77845409G>A	ENSP00000216471:p.Val550Ile					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.V550I	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1648	+			550			SAM.		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1648G>A	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613136	0.87359	.	.	ENSG00000100583	ENST00000216471	T	0.44881	0.91	5.17	5.17	0.71159	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.31188	N	0.008086	T	0.68366	0.2993	M	0.83012	2.62	0.29742	N	0.837016	D	0.89917	1.0	D	0.91635	0.999	T	0.69577	-0.5108	10	0.66056	D	0.02	-12.5373	17.4151	0.87497	0.0:0.0:1.0:0.0	.	550	Q9P1V8	SAM15_HUMAN	I	550	ENSP00000216471:V550I	ENSP00000216471:V550I	V	+	1	0	SAMD15	76915162	1.000000	0.71417	0.966000	0.40874	0.945000	0.59286	6.216000	0.72212	2.410000	0.81850	0.561000	0.74099	GTT		0.428	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		33	76	0	0	0	0	33	76				
UNC79	57578	broad.mit.edu	37	14	94100936	94100936	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:94100936T>A	ENST00000393151.2	+	32	5786	c.5786T>A	c.(5785-5787)cTg>cAg	p.L1929Q	UNC79_ENST00000256339.4_Missense_Mutation_p.L1752Q|UNC79_ENST00000555664.1_Intron|UNC79_ENST00000553484.1_Missense_Mutation_p.L1951Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1929					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						AAGCGGCAGCTGGAGCATCAG	0.468																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(5320-5322)CTG>CAG		hypothetical protein LOC57578							105.0	105.0	105.0					14																	94100936		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94100936T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5786T>A	14.37:g.94100936T>A	ENSP00000376858:p.Leu1929Gln					KIAA1409_uc001ybs.1_Missense_Mutation_p.L1752Q	p.L1774Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	30	5404	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1929					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5321T>A		.	.	.	.	.	.	.	.	.	.	T	28.4	4.919746	0.92249	.	.	ENSG00000133958	ENST00000256339;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T	0.28454	1.61;1.61;1.61	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000023	T	0.39253	0.1071	N	0.19112	0.55	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.15464	-1.0436	10	0.19147	T	0.46	-7.5766	15.9002	0.79369	0.0:0.0:0.0:1.0	.	1951	C9JQL1	.	Q	1752;1951;1929;1951	ENSP00000256339:L1752Q;ENSP00000451360:L1951Q;ENSP00000376858:L1929Q	ENSP00000256339:L1752Q	L	+	2	0	KIAA1409	93170689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.978000	0.88095	2.219000	0.72066	0.533000	0.62120	CTG		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		33	82	0	0	0	0	33	82				
CEP170B	283638	broad.mit.edu	37	14	105353169	105353169	+	Missense_Mutation	SNP	C	C	T	rs562413639		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105353169C>T	ENST00000414716.3	+	12	2821	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	CEP170B_ENST00000453495.1_Missense_Mutation_p.R866W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R795W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R795W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	865						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AGCCTTTCTCCGGCAAGAGAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		12923	0.0		0.0	False		,,,				2504	0.001					uc010axb.2		NA																	0				breast(1)	1						c.(2593-2595)CGG>TGG		hypothetical protein LOC283638 isoform 1							22.0	30.0	28.0					14																	105353169		1987	4143	6130	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105353169C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2593C>T	14.37:g.105353169C>T	ENSP00000404151:p.Arg865Trp					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R795W|KIAA0284_uc001yps.2_Missense_Mutation_p.R771W|KIAA0284_uc001ypt.2_5'Flank	p.R865W	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	12	2817	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	865					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2593C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977041	0.34848	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.72835	-0.47;-0.69;-0.58;-0.67	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000001	T	0.80844	0.4701	M	0.66939	2.045	0.47153	D	0.999339	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.82579	-0.0387	10	0.87932	D	0	-27.1648	10.9818	0.47499	0.3216:0.6784:0.0:0.0	.	865;865;795	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	795;865;866;795	ENSP00000451249:R795W;ENSP00000404151:R865W;ENSP00000407238:R866W;ENSP00000415006:R795W	ENSP00000404151:R865W	R	+	1	2	KIAA0284	104424214	0.938000	0.31826	0.294000	0.24946	0.004000	0.04260	2.807000	0.47955	1.814000	0.52955	0.462000	0.41574	CGG		0.652	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	41	0	0	0	0	4	41				
AHNAK2	113146	broad.mit.edu	37	14	105411998	105411998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105411998C>A	ENST00000333244.5	-	7	9909	c.9790G>T	c.(9790-9792)Gcc>Tcc	p.A3264S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3264						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCGGGGGCCGTCACATCC	0.627																																						uc010axc.1		NA																	0				ovary(1)	1						c.(9790-9792)GCC>TCC		AHNAK nucleoprotein 2							94.0	71.0	79.0					14																	105411998		1845	3829	5674	SO:0001583	missense	113146					nucleus		g.chr14:105411998C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9790G>T	14.37:g.105411998C>A	ENSP00000353114:p.Ala3264Ser					AHNAK2_uc001ypx.2_Missense_Mutation_p.A3164S	p.A3264S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9910	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3264					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9790G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.761	1.170128	0.21621	.	.	ENSG00000185567	ENST00000333244	T	0.00737	5.76	3.51	-3.68	0.04463	.	.	.	.	.	T	0.00967	0.0032	M	0.80028	2.48	0.09310	N	1	B	0.18610	0.029	B	0.23150	0.044	T	0.50659	-0.8802	9	0.09084	T	0.74	.	2.0082	0.03481	0.1051:0.2978:0.2832:0.314	.	3264	Q8IVF2	AHNK2_HUMAN	S	3264	ENSP00000353114:A3264S	ENSP00000353114:A3264S	A	-	1	0	AHNAK2	104483043	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-0.801000	0.04427	-1.349000	0.01238	GCC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		75	140	1	0	2.54e-55	3.82e-55	75	140				
AHNAK2	113146	broad.mit.edu	37	14	105412823	105412823	+	Missense_Mutation	SNP	C	C	G	rs372969166		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr14:105412823C>G	ENST00000333244.5	-	7	9084	c.8965G>C	c.(8965-8967)Ggg>Cgg	p.G2989R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2989						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACCCCGAACGACGGC	0.602																																						uc010axc.1		NA																	0				ovary(1)	1						c.(8965-8967)GGG>CGG		AHNAK nucleoprotein 2							268.0	280.0	276.0					14																	105412823		1977	4130	6107	SO:0001583	missense	113146					nucleus		g.chr14:105412823C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8965G>C	14.37:g.105412823C>G	ENSP00000353114:p.Gly2989Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.G2889R	p.G2989R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9085	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2989					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8965G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	18.38	3.612211	0.66672	.	.	ENSG00000185567	ENST00000333244	T	0.02863	4.13	4.35	4.35	0.52113	.	.	.	.	.	T	0.20129	0.0484	M	0.92412	3.305	0.29223	N	0.87377	D	0.89917	1.0	D	0.85130	0.997	T	0.30208	-0.9986	9	0.19147	T	0.46	.	16.5305	0.84357	0.0:1.0:0.0:0.0	.	2989	Q8IVF2	AHNK2_HUMAN	R	2989	ENSP00000353114:G2989R	ENSP00000353114:G2989R	G	-	1	0	AHNAK2	104483868	0.000000	0.05858	0.170000	0.22879	0.066000	0.16364	0.090000	0.15025	1.995000	0.58328	0.485000	0.47835	GGG		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		165	348	0	0	0	0	165	348				
MKRN3	7681	broad.mit.edu	37	15	23811400	23811400	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23811400G>A	ENST00000314520.3	+	1	947	c.471G>A	c.(469-471)gcG>gcA	p.A157A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	157					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A157A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGAAGTGGCGGAAGCCCCCC	0.642																																						uc001ywh.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(469-471)GCG>GCA		makorin ring finger protein 3							26.0	28.0	28.0					15																	23811400		2202	4299	6501	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811400G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.471G>A	15.37:g.23811400G>A						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A157A	p.A157A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	947	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	157						Silent	SNP	ENST00000314520.3	37	c.471G>A	CCDS10013.1																																																																																				0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		17	60	0	0	0	0	17	60				
NDN	4692	broad.mit.edu	37	15	23932095	23932095	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:23932095C>T	ENST00000331837.4	-	1	355	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	90					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGGTGCCGGGCCCGGCT	0.706									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(268-270)CCG>CCA		necdin							16.0	18.0	17.0					15																	23932095		2198	4277	6475	SO:0001819	synonymous_variant	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932095C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.270G>A	15.37:g.23932095C>T							p.P90P	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	356	-		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)	90					B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.270G>A	CCDS10014.1																																																																																				0.706	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		16	31	0	0	0	0	16	31				
TRPM1	4308	broad.mit.edu	37	15	31324988	31324988	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:31324988G>A	ENST00000256552.6	-	22	3003	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	TRPM1_ENST00000397795.2_Silent_p.I930I|TRPM1_ENST00000542188.1_Silent_p.I969I|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACACAGTAGATCACCCGGC	0.473																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2788-2790)ATC>ATT		transient receptor potential cation channel,							151.0	145.0	147.0					15																	31324988		1976	4168	6144	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31324988G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2856C>T	15.37:g.31324988G>A						TRPM1_uc010azy.2_Silent_p.I837I|TRPM1_uc001zfl.2_RNA	p.I930I	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	2918	-		all_lung(180;1.92e-11)	930			Helical; (Potential).			Silent	SNP	ENST00000256552.6	37	c.2790C>T	CCDS58346.1																																																																																				0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		42	69	0	0	0	0	42	69				
SPRED1	161742	broad.mit.edu	37	15	38591587	38591587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:38591587C>T	ENST00000299084.4	+	2	906	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	16	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGTTATGCACGAGTGCGAGC	0.438									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	uc001zka.3		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(46-48)CGA>TGA		sprouty-related protein 1 with EVH-1 domain							98.0	97.0	98.0					15																	38591587		2200	4297	6497	SO:0001587	stop_gained	161742	Legius_syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38591587C>T	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.46C>T	15.37:g.38591587C>T	ENSP00000299084:p.Arg16*						p.R16*	NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	381	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	16			WH1.		B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	ENST00000299084.4	37	c.46C>T	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	C	45	11.615284	0.99582	.	.	ENSG00000166068	ENST00000299084	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9556	12.3907	0.55356	0.0:0.923:0.0:0.077	.	.	.	.	X	16	.	ENSP00000299084:R16X	R	+	1	2	SPRED1	36378879	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.947000	0.63583	2.709000	0.92574	0.655000	0.94253	CGA		0.438	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			30	62	0	0	0	0	30	62				
SEMA6D	80031	broad.mit.edu	37	15	48055235	48055235	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:48055235A>T	ENST00000316364.5	+	9	1120	c.681A>T	c.(679-681)atA>atT	p.I227I	SEMA6D_ENST00000355997.3_Silent_p.I227I|SEMA6D_ENST00000354744.4_Silent_p.I227I|SEMA6D_ENST00000389432.2_Silent_p.I227I|SEMA6D_ENST00000558816.1_Silent_p.I227I|SEMA6D_ENST00000558014.1_Silent_p.I227I|SEMA6D_ENST00000537942.1_Silent_p.I227I|SEMA6D_ENST00000358066.4_Silent_p.I227I|SEMA6D_ENST00000389433.2_Silent_p.I227I|SEMA6D_ENST00000536845.2_Silent_p.I227I|SEMA6D_ENST00000389425.3_Silent_p.I227I|SEMA6D_ENST00000389428.3_Silent_p.I227I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	227	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTCATGCCATAGAATATGGAA	0.358																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(679-681)ATA>ATT		semaphorin 6D isoform 4 precursor							78.0	74.0	75.0					15																	48055235		2198	4296	6494	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48055235A>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.681A>T	15.37:g.48055235A>T						SEMA6D_uc001zvw.2_Silent_p.I227I|SEMA6D_uc001zvx.1_Silent_p.I227I|SEMA6D_uc001zvy.2_Silent_p.I227I|SEMA6D_uc001zvz.2_Silent_p.I227I|SEMA6D_uc001zwa.2_Silent_p.I227I|SEMA6D_uc001zwb.2_Silent_p.I227I|SEMA6D_uc001zwc.2_Silent_p.I227I	p.I227I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	9	1041	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	227			Sema.|Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.681A>T	CCDS32225.1																																																																																				0.358	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		9	43	0	0	0	0	9	43				
ICE2	79664	broad.mit.edu	37	15	60745949	60745949	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:60745949T>A	ENST00000261520.4	-	9	1212	c.978A>T	c.(976-978)tcA>tcT	p.S326S	NARG2_ENST00000561114.1_Silent_p.S326S|NARG2_ENST00000439632.1_Silent_p.S189S	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						GGGGAAGTGGTGAATTAATAT	0.289																																						uc002agp.2		NA																	0				ovary(1)|lung(1)	2						c.(976-978)TCA>TCT		NMDA receptor regulated 2 isoform a							70.0	76.0	74.0					15																	60745949		2203	4299	6502	SO:0001819	synonymous_variant	79664					nucleus		g.chr15:60745949T>A																												ENST00000261520.4:c.978A>T	15.37:g.60745949T>A						NARG2_uc002ago.2_Silent_p.S189S|NARG2_uc002agq.3_5'UTR|NARG2_uc010bgk.2_Silent_p.S326S|NARG2_uc002agr.1_Silent_p.S326S	p.S326S	NM_024611	NP_078887	Q659A1	NARG2_HUMAN			9	1213	-			326						Silent	SNP	ENST00000261520.4	37	c.978A>T	CCDS10176.1																																																																																				0.289	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			32	97	0	0	0	0	32	97				
VPS13C	54832	broad.mit.edu	37	15	62202492	62202492	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:62202492A>G	ENST00000261517.5	-	64	8801	c.8728T>C	c.(8728-8730)Tgg>Cgg	p.W2910R	VPS13C_ENST00000395896.4_Missense_Mutation_p.W2910R|VPS13C_ENST00000249837.3_Missense_Mutation_p.W2867R|VPS13C_ENST00000395898.3_Missense_Mutation_p.W2867R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTTCTGGCCAAAATGGAAGG	0.328																																						uc002agz.2		NA																	0				ovary(2)	2						c.(8728-8730)TGG>CGG		vacuolar protein sorting 13C protein isoform 2A							48.0	50.0	50.0					15																	62202492		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62202492A>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8728T>C	15.37:g.62202492A>G	ENSP00000261517:p.Trp2910Arg					VPS13C_uc002aha.2_Missense_Mutation_p.W2867R|VPS13C_uc002ahb.1_Missense_Mutation_p.W2910R|VPS13C_uc002ahc.1_Missense_Mutation_p.W2867R|VPS13C_uc002ahd.1_Missense_Mutation_p.W287R	p.W2910R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			64	8802	-			2910						Missense_Mutation	SNP	ENST00000261517.5	37	c.8728T>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744266	0.69418	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.29917	1.55;1.55;1.55	5.61	5.61	0.85477	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.88310	2.945	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	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.67987	-0.5528	10	0.87932	D	0	.	11.7313	0.51739	0.9294:0.0:0.0706:0.0	.	2910;2867;2910;2867;2910	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	R	2867;2910;2910;2910	ENSP00000249837:W2867R;ENSP00000261517:W2910R;ENSP00000379233:W2910R	ENSP00000249837:W2867R	W	-	1	0	VPS13C	59989784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.079000	0.89508	2.132000	0.65825	0.533000	0.62120	TGG		0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	36	0	0	0	0	12	36				
SMAD6	4091	broad.mit.edu	37	15	67073771	67073771	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:67073771C>T	ENST00000288840.5	+	4	2420	c.1389C>T	c.(1387-1389)agC>agT	p.S463S	SMAD6_ENST00000338426.4_Silent_p.S202S	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	463	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|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)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						ACCCCAACAGCGTCCGCATCA	0.682																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	uc002aqf.2		NA																	0				skin(1)	1						c.(1387-1389)AGC>AGT		SMAD family member 6 isoform 1							11.0	16.0	14.0					15																	67073771		2166	4251	6417	SO:0001819	synonymous_variant	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073771C>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1389C>T	15.37:g.67073771C>T						SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Silent_p.S202S	p.S463S	NM_005585	NP_005576	O43541	SMAD6_HUMAN			4	2312	+			463			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Silent	SNP	ENST00000288840.5	37	c.1389C>T	CCDS10221.1																																																																																				0.682	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		12	19	0	0	0	0	12	19				
POLG	5428	broad.mit.edu	37	15	89873428	89873428	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:89873428G>A	ENST00000268124.5	-	3	1072	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_Silent_p.L247L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	247					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGACCTCCAGGGGGATGAGG	0.612								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	uc002bns.3		NA																	0				ovary(1)|lung(1)	2						c.(739-741)CTG>TTG	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase gamma							47.0	47.0	47.0					15																	89873428		2200	4299	6499	SO:0001819	synonymous_variant	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89873428G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.739C>T	15.37:g.89873428G>A						POLG_uc002bnr.3_Silent_p.L247L	p.L247L	NM_002693	NP_002684	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		3	1021	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		247					Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	c.739C>T	CCDS10350.1																																																																																				0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		9	80	0	0	0	0	9	80				
CHD2	1106	broad.mit.edu	37	15	93528831	93528831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:93528831C>T	ENST00000394196.4	+	26	4409	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	CHD2_ENST00000557381.1_Missense_Mutation_p.P1114L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1114					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAGAAGCCAAAGCGCAGA	0.537																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(3340-3342)CCA>CTA		chromodomain helicase DNA binding protein 2							132.0	121.0	124.0					15																	93528831		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93528831C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3341C>T	15.37:g.93528831C>T	ENSP00000377747:p.Pro1114Leu					CHD2_uc002bso.1_Missense_Mutation_p.P1114L	p.P1114L	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		26	3916	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1114					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3341C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	33	5.262758	0.95399	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02446	4.29;4.29	5.18	5.18	0.71444	.	0.000000	0.34046	U	0.004315	T	0.17023	0.0409	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.83275	0.996;0.84	T	0.00254	-1.1874	10	0.72032	D	0.01	-11.3646	18.6951	0.91598	0.0:1.0:0.0:0.0	.	1114;1114	O14647;O14647-2	CHD2_HUMAN;.	L	1114	ENSP00000377747:P1114L;ENSP00000451366:P1114L	ENSP00000377747:P1114L	P	+	2	0	CHD2	91329835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.417000	0.82017	0.650000	0.86243	CCA		0.537	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		26	93	0	0	0	0	26	93				
ZNF597	146434	broad.mit.edu	37	16	3487215	3487215	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:3487215C>A	ENST00000301744.4	-	4	719	c.484G>T	c.(484-486)Gac>Tac	p.D162Y		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	162					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)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AAGTTTTGGTCACACTCAGGA	0.368																																						uc002cvd.2		NA																	0					0						c.(484-486)GAC>TAC		zinc finger protein 597							169.0	168.0	169.0					16																	3487215		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3487215C>A	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.484G>T	16.37:g.3487215C>A	ENSP00000301744:p.Asp162Tyr						p.D162Y	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			4	668	-			162			C2H2-type 1.			Missense_Mutation	SNP	ENST00000301744.4	37	c.484G>T	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196913	0.38806	.	.	ENSG00000167981	ENST00000301744	T	0.36520	1.25	4.91	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134911	0.34411	N	0.003987	T	0.50069	0.1594	L	0.54323	1.7	0.45087	D	0.998106	D	0.89917	1.0	D	0.75484	0.986	T	0.47368	-0.9123	10	0.66056	D	0.02	-8.986	8.6318	0.33924	0.0:0.7616:0.1536:0.0849	.	162	Q96LX8	ZN597_HUMAN	Y	162	ENSP00000301744:D162Y	ENSP00000301744:D162Y	D	-	1	0	ZNF597	3427216	0.990000	0.36364	1.000000	0.80357	0.235000	0.25334	2.937000	0.48979	0.767000	0.33267	0.655000	0.94253	GAC		0.368	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		67	191	1	0	4.16e-52	6.24e-52	67	191				
MYH11	4629	broad.mit.edu	37	16	15931989	15931989	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:15931989C>G	ENST00000300036.5	-	2	230	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	MYH11_ENST00000396324.3_Missense_Mutation_p.E41Q|MYH11_ENST00000452625.2_Missense_Mutation_p.E41Q|MYH11_ENST00000576790.2_Missense_Mutation_p.E41Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	41					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCCTGCTTCTCCGAGGGGACC	0.567			T	CBFB	AML																																	uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(121-123)GAG>CAG		smooth muscle myosin heavy chain 11 isoform							133.0	129.0	131.0					16																	15931989		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15931989C>G	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.121G>C	16.37:g.15931989C>G	ENSP00000300036:p.Glu41Gln					MYH11_uc002ddv.2_Missense_Mutation_p.E41Q|MYH11_uc002ddw.2_Missense_Mutation_p.E41Q|MYH11_uc002ddx.2_Missense_Mutation_p.E41Q|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Missense_Mutation_p.E41Q	p.E41Q	NM_002474	NP_002465	P35749	MYH11_HUMAN			2	228	-			41			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.121G>C	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	32	5.168642	0.94768	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.95	5.95	0.96441	Myosin, N-terminal, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.89715	3.055	0.80722	D	1	B;D;D;P;P	0.54397	0.307;0.966;0.966;0.941;0.933	B;P;P;P;P	0.57548	0.135;0.823;0.823;0.756;0.773	D	0.90768	0.4670	10	0.51188	T	0.08	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	41;41;41;41;41	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	41	ENSP00000300036:E41Q;ENSP00000345136:E41Q;ENSP00000379616:E41Q;ENSP00000407821:E41Q	ENSP00000300036:E41Q	E	-	1	0	MYH11	15839490	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	GAG		0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		38	106	0	0	0	0	38	106				
ACSM2A	123876	broad.mit.edu	37	16	20487096	20487096	+	Splice_Site	SNP	G	G	T	rs376985838		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:20487096G>T	ENST00000573854.1	+	8	1212		c.e8+1		ACSM2A_ENST00000575690.1_Splice_Site|ACSM2A_ENST00000219054.6_Splice_Site|ACSM2A_ENST00000396104.2_Splice_Site|ACSM2A_ENST00000417235.2_Splice_Site|ACSM2A_ENST00000575558.1_Splice_Site|ACSM2A_ENST00000536134.1_Splice_Site	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A						fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACAGAAACGGTACCTGTTCC	0.483																																						uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.e9+1		acyl-CoA synthetase medium-chain family member							146.0	155.0	152.0					16																	20487096		2203	4300	6503	SO:0001630	splice_region_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20487096G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1098+1G>T	16.37:g.20487096G>T						ACSM2A_uc010vax.1_Splice_Site_p.T287_splice|ACSM2A_uc002dhf.3_Splice_Site_p.T366_splice|ACSM2A_uc002dhg.3_Splice_Site_p.T366_splice|ACSM2A_uc010vay.1_Splice_Site_p.T287_splice|ACSM2A_uc002dhh.3_Splice_Site	p.T366_splice	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			9	1337	+								B3KTT9|O75202	Splice_Site	SNP	ENST00000573854.1	37	c.1098_splice	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110663	0.37242	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.76	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.143	0.48413	0.095:0.0:0.9049:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSM2A	20394597	1.000000	0.71417	0.990000	0.47175	0.682000	0.39822	5.674000	0.68117	0.694000	0.31654	0.298000	0.19748	.		0.483	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	Intron	95	233	1	0	2.37e-55	3.58e-55	95	233				
PRKCB	5579	broad.mit.edu	37	16	24231346	24231346	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:24231346C>A	ENST00000321728.7	+	17	2103	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H	PRKCB_ENST00000303531.7_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	643	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAACTGACCCCCACTGATAAA	0.423																																						uc002dmd.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1927-1929)CCC>CAC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						121.0	115.0	117.0					16																	24231346		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24231346C>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1928C>A	16.37:g.24231346C>A	ENSP00000318315:p.Pro643His					PRKCB_uc002dme.2_3'UTR	p.P643H	NM_212535	NP_997700	P05771	KPCB_HUMAN			17	2125	+			643			AGC-kinase C-terminal.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1928C>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486477	0.84854	.	.	ENSG00000166501	ENST00000321728	T	0.59224	0.28	5.9	5.9	0.94986	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	.	.	.	.	D	0.83418	0.5250	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.87261	0.2279	9	0.87932	D	0	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	643	P05771	KPCB_HUMAN	H	643	ENSP00000318315:P643H	ENSP00000318315:P643H	P	+	2	0	PRKCB	24138847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.481000	0.81124	2.798000	0.96311	0.650000	0.86243	CCC		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		28	51	1	0	4.6e-10	5.75e-10	28	51				
SPNS1	83985	broad.mit.edu	37	16	28995109	28995109	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:28995109C>T	ENST00000311008.11	+	11	1700	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000323081.8_Silent_p.I368I|SPNS1_ENST00000334536.8_Silent_p.I389I|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000566177.1_5'Flank|SPNS1_ENST00000352260.7_Silent_p.I367I|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000565975.1_Silent_p.I486I|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000454369.2_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	441					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCCTGCAGATCTCTGACCGCC	0.637																																						uc010vdi.1		NA																	0					0						c.(1321-1323)ATC>ATT		spinster homolog 1 isoform 1							54.0	59.0	58.0					16																	28995109		2196	4300	6496	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995109C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1323C>T	16.37:g.28995109C>T						uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.I368I|SPNS1_uc002dsa.2_Silent_p.I441I|SPNS1_uc002drz.2_Silent_p.I389I|SPNS1_uc010byp.2_Silent_p.I367I|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	p.I441I	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			12	1463	+			441			Helical; (Potential).		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1323C>T	CCDS10646.1																																																																																				0.637	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		57	91	0	0	0	0	57	91				
ZFP90	146198	broad.mit.edu	37	16	68598394	68598394	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:68598394C>T	ENST00000570495.1	+	5	1996	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	ZFP90_ENST00000398253.2_Silent_p.L568L|ZFP90_ENST00000563169.2_Silent_p.L568L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	568					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)		GTTCATCTCTCATTCAGCATG	0.438																																						uc010cff.2		NA																	0				ovary(1)	1						c.(1702-1704)CTC>CTT		zinc finger protein 90							95.0	108.0	103.0					16																	68598394		2189	4297	6486	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598394C>T	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.1704C>T	16.37:g.68598394C>T						ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Silent_p.L568L|ZFP90_uc002ewe.2_Silent_p.L568L	p.L568L	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1996	+		Ovarian(137;0.192)	568			C2H2-type 11.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.1704C>T	CCDS42183.1																																																																																				0.438	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		53	119	0	0	0	0	53	119				
COG4	25839	broad.mit.edu	37	16	70530226	70530226	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:70530226T>A	ENST00000323786.5	-	12	1611	c.1590A>T	c.(1588-1590)caA>caT	p.Q530H		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	526					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAAATTTGCCTTGCTGGAGGC	0.547																																						uc002ezc.2		NA																	0					0						c.(1588-1590)CAA>CAT		component of oligomeric golgi complex 4							161.0	121.0	135.0					16																	70530226		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70530226T>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1590A>T	16.37:g.70530226T>A	ENSP00000315775:p.Gln530His					COG4_uc002ezb.2_Missense_Mutation_p.Q7H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.Q530H|COG4_uc002eze.2_Missense_Mutation_p.Q224H	p.Q530H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			12	1601	-		Ovarian(137;0.0694)	526					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1590A>T	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308212	0.60305	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000526700;ENST00000539961	T	0.50277	0.75	6.04	-2.42	0.06542	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.55103	1.725	0.80722	D	1	P;P;P;D	0.64830	0.462;0.704;0.846;0.994	B;B;B;D	0.75484	0.18;0.261;0.247;0.986	T	0.51787	-0.8661	10	0.39692	T	0.17	-15.5922	11.3902	0.49809	0.0:0.5673:0.0:0.4327	.	436;525;526;7	Q8N8L9;Q6PIW8;Q9H9E3;E9PQK0	.;.;COG4_HUMAN;.	H	530;526;7;188	ENSP00000315775:Q530H	ENSP00000315775:Q530H	Q	-	3	2	COG4	69087727	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	2.089000	0.41672	-0.616000	0.05671	-0.337000	0.08149	CAA		0.547	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			15	74	0	0	0	0	15	74				
ADAT1	23536	broad.mit.edu	37	16	75646689	75646689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:75646689C>A	ENST00000307921.3	-	7	640	c.495G>T	c.(493-495)tgG>tgT	p.W165C		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	165	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AGTTGTGGGCCCAATTTCTGA	0.463																																						uc002feo.1		NA																	0				ovary(1)|skin(1)	2						c.(493-495)TGG>TGT		adenosine deaminase, tRNA-specific 1							76.0	80.0	78.0					16																	75646689		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646689C>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.495G>T	16.37:g.75646689C>A	ENSP00000310015:p.Trp165Cys					ADAT1_uc002fep.1_Missense_Mutation_p.W16C	p.W165C	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN			7	597	-			165			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.495G>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133896	0.56828	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.13420	2.59	5.24	4.27	0.50696	Adenosine deaminase/editase (3);	2.068590	0.01927	N	0.040956	T	0.34745	0.0908	M	0.75264	2.295	0.09310	N	0.999991	D	0.54601	0.967	P	0.56788	0.806	T	0.11060	-1.0603	10	0.38643	T	0.18	-1.8884	9.2525	0.37564	0.1486:0.7696:0.0:0.0819	.	165	Q9BUB4	ADAT1_HUMAN	C	165;136	ENSP00000310015:W165C	ENSP00000310015:W165C	W	-	3	0	ADAT1	74204190	0.000000	0.05858	0.124000	0.21820	0.590000	0.36582	1.167000	0.31847	2.607000	0.88179	0.655000	0.94253	TGG		0.463	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		20	49	1	0	7.88e-14	1.03e-13	20	49				
ADAMTS18	170692	broad.mit.edu	37	16	77375634	77375634	+	Silent	SNP	G	G	C	rs551704033		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:77375634G>C	ENST00000282849.5	-	11	2095	c.1677C>G	c.(1675-1677)ccC>ccG	p.P559P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	559	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGCTGCGGGCATAAACT	0.418																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1675-1677)CCC>CCG		ADAM metallopeptidase with thrombospondin type 1							85.0	79.0	81.0					16																	77375634		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77375634G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1677C>G	16.37:g.77375634G>C						ADAMTS18_uc010chc.1_Silent_p.P147P|ADAMTS18_uc002ffe.1_Silent_p.P255P	p.P559P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			11	2096	-			559			Disintegrin.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.1677C>G	CCDS10926.1																																																																																				0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			14	43	0	0	0	0	14	43				
NECAB2	54550	broad.mit.edu	37	16	84024099	84024099	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr16:84024099G>T	ENST00000305202.4	+	6	477	c.460G>T	c.(460-462)Gta>Tta	p.V154L	NECAB2_ENST00000565691.1_Splice_Site_p.V71L	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	154						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCTTCCACAGGTATATGAGGG	0.572																																						uc002fhd.2		NA																	0				ovary(2)	2						c.(460-462)GTA>TTA		neuronal calcium-binding protein 2							73.0	68.0	70.0					16																	84024099		2200	4300	6500	SO:0001630	splice_region_variant	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84024099G>T	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.460-1G>T	16.37:g.84024099G>T						NECAB2_uc002fhe.2_Missense_Mutation_p.V71L	p.V154L	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			6	477	+			154					A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.460G>T	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515285	0.64634	.	.	ENSG00000103154	ENST00000305202	T	0.19394	2.15	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.62016	1.91	0.80722	D	1	D	0.62365	0.991	D	0.67548	0.952	T	0.18681	-1.0329	9	.	.	.	-9.7086	17.5779	0.87956	0.0:0.0:1.0:0.0	.	154	Q7Z6G3	NECA2_HUMAN	L	154	ENSP00000307449:V154L	.	V	+	1	0	NECAB2	82581600	1.000000	0.71417	0.991000	0.47740	0.020000	0.10135	9.645000	0.98471	2.388000	0.81334	0.549000	0.68633	GTA		0.572	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065	Missense_Mutation	34	63	1	0	1.22e-17	1.67e-17	34	63				
ZBTB4	57659	broad.mit.edu	37	17	7370091	7370091	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7370091C>T	ENST00000311403.4	-	3	369	c.30G>A	c.(28-30)ccG>ccA	p.P10P	ZBTB4_ENST00000380599.4_Silent_p.P10P	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGGCATGGGACGGGTCCGTCA	0.657																																						uc002ghc.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(28-30)CCG>CCA		zinc finger and BTB domain containing 4							16.0	14.0	14.0					17																	7370091		2200	4295	6495	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7370091C>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.30G>A	17.37:g.7370091C>T						ZBTB4_uc002ghd.3_Silent_p.P10P	p.P10P	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	280	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	10					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.30G>A	CCDS11107.1																																																																																				0.657	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		2	0	0	0	0	0	2	0				
CHD3	1107	broad.mit.edu	37	17	7806008	7806008	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7806008G>A	ENST00000330494.7	+	21	3483	c.3333G>A	c.(3331-3333)acG>acA	p.T1111T	CHD3_ENST00000358181.4_Silent_p.T1111T|CHD3_ENST00000380358.4_Silent_p.T1170T	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1111	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGGTATCACGGGTGCCCTGA	0.507																																						uc002gje.2		NA																	0				breast(1)	1						c.(3331-3333)ACG>ACA		chromodomain helicase DNA binding protein 3							167.0	150.0	156.0					17																	7806008		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806008G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3333G>A	17.37:g.7806008G>A						CHD3_uc002gjd.2_Silent_p.T1170T|CHD3_uc002gjf.2_Silent_p.T1111T|CHD3_uc002gjh.2_5'Flank	p.T1111T	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			21	3483	+		Prostate(122;0.202)	1111			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3333G>A	CCDS32554.1																																																																																				0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		96	49	0	0	0	0	96	49				
ALOX15B	247	broad.mit.edu	37	17	7943265	7943265	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:7943265G>T	ENST00000380183.4	+	3	552	c.413G>T	c.(412-414)cGc>cTc	p.R138L	ALOX15B_ENST00000573359.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R138L|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R138L	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	138	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CAGCAACAGCGCCAGGAGGAG	0.612																																						uc002gju.2		NA																	0				ovary(1)	1						c.(412-414)CGC>CTC		arachidonate 15-lipoxygenase, second type							62.0	57.0	59.0					17																	7943265		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7943265G>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.413G>T	17.37:g.7943265G>T	ENSP00000369530:p.Arg138Leu					ALOX15B_uc002gjv.2_Missense_Mutation_p.R138L|ALOX15B_uc002gjw.2_Missense_Mutation_p.R138L|ALOX15B_uc010vun.1_Missense_Mutation_p.R138L|ALOX15B_uc010cnp.2_5'UTR	p.R138L	NM_001141	NP_001132	O15296	LX15B_HUMAN			3	529	+			138			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.413G>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470490	0.96274	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.90676	-2.71;-2.71	4.31	4.31	0.51392	Lipoxygenase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.93283	3.4	0.58432	D	0.999995	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.944;0.975;0.975;0.944	D	0.97112	0.9805	10	0.87932	D	0	-16.2274	14.057	0.64776	0.0:0.0:1.0:0.0	.	138;138;138;138	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	L	138	ENSP00000369520:R138L;ENSP00000369530:R138L	ENSP00000344337:R138L	R	+	2	0	ALOX15B	7883990	0.482000	0.25948	0.510000	0.27712	0.762000	0.43233	3.746000	0.55127	2.091000	0.63221	0.655000	0.94253	CGC		0.612	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			46	46	1	0	6.61e-23	9.42e-23	46	46				
MYH8	4626	broad.mit.edu	37	17	10304007	10304007	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:10304007T>C	ENST00000403437.2	-	27	3529	c.3435A>G	c.(3433-3435)gaA>gaG	p.E1145E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1145					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTCCTCCAGTTCCCGGGAGA	0.592									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3433-3435)GAA>GAG		myosin, heavy chain 8, skeletal muscle,							66.0	76.0	72.0					17																	10304007		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304007T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3435A>G	17.37:g.10304007T>C						uc002gml.1_Intron	p.E1145E	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3530	-			1145			Potential.		Q14910	Silent	SNP	ENST00000403437.2	37	c.3435A>G	CCDS11153.1																																																																																				0.592	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		98	44	0	0	0	0	98	44				
SSH2	85464	broad.mit.edu	37	17	27963640	27963640	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:27963640T>C	ENST00000269033.3	-	14	1678	c.1527A>G	c.(1525-1527)gaA>gaG	p.E509E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.E536E	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	509					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	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)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGACCATATGTTCCACAAAGA	0.463																																						uc002heo.1		NA																	0				skin(2)	2						c.(1525-1527)GAA>GAG		slingshot 2							150.0	132.0	138.0					17																	27963640		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27963640T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1527A>G	17.37:g.27963640T>C						SSH2_uc010wbh.1_Silent_p.E536E	p.E509E	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			14	1527	-			509					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.1527A>G	CCDS11253.1																																																																																				0.463	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		38	159	0	0	0	0	38	159				
EFCAB5	374786	broad.mit.edu	37	17	28380818	28380818	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:28380818C>A	ENST00000394835.3	+	10	2038	c.1846C>A	c.(1846-1848)Caa>Aaa	p.Q616K	EFCAB5_ENST00000394832.2_Missense_Mutation_p.Q616K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q616K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.Q273K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.Q616K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.Q560K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	616							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TATTGCAGAACAAGATCGACA	0.468																																						uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(1846-1848)CAA>AAA		EF-hand calcium binding domain 5 isoform a							248.0	234.0	239.0					17																	28380818		2086	4214	6300	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380818C>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1846C>A	17.37:g.28380818C>A	ENSP00000378312:p.Gln616Lys					EFCAB5_uc010wbi.1_Missense_Mutation_p.Q359K|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q560K|EFCAB5_uc010wbk.1_Missense_Mutation_p.Q273K|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q495K|EFCAB5_uc010csf.2_Missense_Mutation_p.Q495K	p.Q616K	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	2038	+			616					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1846C>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	0.322	-0.961233	0.02249	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.59	-1.92	0.07618	.	1.027910	0.07735	N	0.945878	T	0.39989	0.1099	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.002;0.0	T	0.39860	-0.9593	10	0.02654	T	1	0.0203	8.8475	0.35179	0.2868:0.3412:0.372:0.0	.	560;560;616;616;616;616	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	K	560;359;273;616;616;616;616;560;422	ENSP00000440619:Q560K;ENSP00000445575:Q273K;ENSP00000378312:Q616K;ENSP00000322003:Q616K;ENSP00000378309:Q616K;ENSP00000368012:Q616K;ENSP00000417009:Q422K	ENSP00000322003:Q616K	Q	+	1	0	EFCAB5	25404944	0.019000	0.18553	0.000000	0.03702	0.009000	0.06853	0.210000	0.17455	-0.352000	0.08237	-0.176000	0.13171	CAA		0.468	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		43	130	1	0	1.23e-20	1.72e-20	43	130				
ACACA	31	broad.mit.edu	37	17	35549233	35549233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:35549233C>T	ENST00000394406.2	-	37	4293	c.4103G>A	c.(4102-4104)cGt>cAt	p.R1368H	ACACA_ENST00000360679.3_Missense_Mutation_p.R1310H|ACACA_ENST00000335166.5_Missense_Mutation_p.R1290H|ACACA_ENST00000353139.5_Missense_Mutation_p.R1405H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1368					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGATAGATACGATCCTCCTC	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(4102-4104)CGT>CAT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						53.0	49.0	50.0					17																	35549233		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549233C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4103G>A	17.37:g.35549233C>T	ENSP00000377928:p.Arg1368His					ACACA_uc002hnk.2_Missense_Mutation_p.R1290H|ACACA_uc002hnl.2_Missense_Mutation_p.R1310H|ACACA_uc002hnn.2_Missense_Mutation_p.R1368H|ACACA_uc002hno.2_Missense_Mutation_p.R1405H|ACACA_uc010cuy.2_Missense_Mutation_p.R62H	p.R1368H	NM_198836	NP_942133	Q13085	ACACA_HUMAN			37	4294	-		Breast(25;0.00157)|Ovarian(249;0.15)	1368					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4103G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294811	0.81025	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.102562	0.64402	D	0.000009	T	0.67011	0.2848	M	0.82517	2.595	0.80722	D	1	P;D;P;B	0.63880	0.673;0.993;0.497;0.168	B;D;B;B	0.63877	0.169;0.919;0.067;0.025	T	0.66316	-0.5954	10	0.38643	T	0.18	-9.5504	19.4103	0.94670	0.0:1.0:0.0:0.0	.	116;1405;1368;1310	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	H	1405;1310;1368;1392;1290;116	ENSP00000344789:R1405H;ENSP00000353898:R1310H;ENSP00000377928:R1368H;ENSP00000335323:R1290H	ENSP00000335323:R1290H	R	-	2	0	ACACA	32623346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.814000	0.86154	2.669000	0.90835	0.650000	0.86243	CGT		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		22	39	0	0	0	0	22	39				
WNK4	65266	broad.mit.edu	37	17	40937377	40937377	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:40937377G>T	ENST00000246914.5	+	6	1374	c.1353G>T	c.(1351-1353)ccG>ccT	p.P451P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	451					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCGAGAAGCCGGGCCTCAAGC	0.706																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(1351-1353)CCG>CCT		WNK lysine deficient protein kinase 4							15.0	18.0	17.0					17																	40937377		2194	4286	6480	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40937377G>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1353G>T	17.37:g.40937377G>T						WNK4_uc010wgx.1_Silent_p.P115P|WNK4_uc002ibk.1_Silent_p.P223P|WNK4_uc010wgy.1_5'UTR	p.P451P	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	6	1374	+		Breast(137;0.000143)	451					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1353G>T	CCDS11439.1																																																																																				0.706	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			7	16	1	0	0.000274275	0.000301935	7	16				
GPATCH8	23131	broad.mit.edu	37	17	42513913	42513913	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:42513913C>A	ENST00000591680.1	-	4	224	c.194G>T	c.(193-195)gGg>gTg	p.G65V	GPATCH8_ENST00000586265.1_5'UTR|GPATCH8_ENST00000434000.1_5'UTR	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	65	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCTGTTCTCCCTGTAACAGG	0.428																																						uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(193-195)GGG>GTG		G patch domain containing 8							124.0	102.0	110.0					17																	42513913		2203	4300	6503	SO:0001630	splice_region_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42513913C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.194-1G>T	17.37:g.42513913C>A						GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR	p.G65V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	4	258	-		Prostate(33;0.0181)	65			G-patch.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.194G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989082	0.74589	.	.	ENSG00000186566	ENST00000335500	.	.	.	5.72	5.72	0.89469	D111/G-patch (3);	0.000000	0.56097	D	0.000040	D	0.89972	0.6870	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92511	0.6016	9	0.87932	D	0	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	65	Q9UKJ3	GPTC8_HUMAN	V	65	.	ENSP00000335486:G65V	G	-	2	0	GPATCH8	39869439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.277000	0.78572	2.711000	0.92665	0.655000	0.94253	GGG		0.428	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909	Missense_Mutation	28	73	1	0	5.77e-19	7.96e-19	28	73				
TBKBP1	9755	broad.mit.edu	37	17	45785830	45785830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:45785830C>A	ENST00000361722.3	+	7	1792	c.943C>A	c.(943-945)Cag>Aag	p.Q315K		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GAGTTCCCTACAGGGGAGAAT	0.652																																						uc002ilu.2		NA																	0					0						c.(943-945)CAG>AAG		TBK1 binding protein 1							59.0	65.0	63.0					17																	45785830		1982	4145	6127	SO:0001583	missense	9755				innate immune response			g.chr17:45785830C>A	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.943C>A	17.37:g.45785830C>A	ENSP00000354777:p.Gln315Lys						p.Q315K	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			7	1792	+			315						Missense_Mutation	SNP	ENST00000361722.3	37	c.943C>A	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984114	0.74474	.	.	ENSG00000198933	ENST00000361722	.	.	.	4.31	4.31	0.51392	Tbk1/Ikki binding domain (1);	0.246207	0.33161	N	0.005218	T	0.64627	0.2615	L	0.27053	0.805	0.58432	D	0.999998	D	0.62365	0.991	D	0.74023	0.982	T	0.69939	-0.5009	9	0.72032	D	0.01	-8.534	15.9341	0.79688	0.0:1.0:0.0:0.0	.	315	A7MCY6	TBKB1_HUMAN	K	315	.	ENSP00000354777:Q315K	Q	+	1	0	TBKBP1	43140829	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.849000	0.75414	2.125000	0.65367	0.462000	0.41574	CAG		0.652	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		17	41	1	0	3.33e-07	3.99e-07	17	41				
AKAP1	8165	broad.mit.edu	37	17	55183669	55183669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:55183669G>A	ENST00000337714.3	+	2	1077	c.844G>A	c.(844-846)Gac>Aac	p.D282N	AKAP1_ENST00000539273.1_Missense_Mutation_p.D282N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D282N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D282N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D282N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	282					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GCTGGCAAAGGACGATGCGGC	0.577																																						uc002iux.2		NA																	0				ovary(1)	1						c.(844-846)GAC>AAC		A-kinase anchor protein 1 precursor							97.0	96.0	97.0					17																	55183669		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183669G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.844G>A	17.37:g.55183669G>A	ENSP00000337736:p.Asp282Asn					AKAP1_uc010wnl.1_Missense_Mutation_p.D282N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.D282N	p.D282N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	1075	+	Breast(9;5.46e-08)		282					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.844G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811616	0.50527	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.23147	2.12;1.92;2.12	5.83	3.73	0.42828	.	0.746551	0.13557	N	0.379076	T	0.24547	0.0595	L	0.50333	1.59	0.09310	N	1	B	0.32245	0.361	B	0.27608	0.081	T	0.09574	-1.0668	10	0.38643	T	0.18	-0.5964	13.991	0.64367	0.0:0.2871:0.7129:0.0	.	282	Q92667	AKAP1_HUMAN	N	282;282;324;282	ENSP00000337736:D282N;ENSP00000314075:D282N;ENSP00000443139:D282N	ENSP00000314075:D282N	D	+	1	0	AKAP1	52538668	0.100000	0.21855	0.006000	0.13384	0.007000	0.05969	2.042000	0.41222	1.461000	0.47929	0.561000	0.74099	GAC		0.577	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			52	111	0	0	0	0	52	111				
CEP112	201134	broad.mit.edu	37	17	64059162	64059162	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:64059162C>A	ENST00000392769.2	-	11	1211	c.993G>T	c.(991-993)gaG>gaT	p.E331D	CEP112_ENST00000537949.1_Missense_Mutation_p.E289D|CEP112_ENST00000535342.2_Missense_Mutation_p.E331D|CEP112_ENST00000541355.1_5'UTR	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	331					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTTCTTTAGTCTCTCTGATAA	0.323																																						uc002jfl.2		NA																	0					0						c.(991-993)GAG>GAT		coiled-coil domain containing 46 isoform a							123.0	109.0	114.0					17																	64059162		2201	4297	6498	SO:0001583	missense	201134					centrosome		g.chr17:64059162C>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.993G>T	17.37:g.64059162C>A	ENSP00000376522:p.Glu331Asp					CCDC46_uc010deo.2_Missense_Mutation_p.E73D|CCDC46_uc002jfm.2_Missense_Mutation_p.E331D|CCDC46_uc010dep.2_Missense_Mutation_p.E289D	p.E331D	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		11	1212	-			331			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.993G>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305802	0.60305	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.55234	0.53;0.53;0.56	5.27	-0.109	0.13584	.	0.056443	0.64402	D	0.000002	T	0.60379	0.2264	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.994;0.997;0.998	P;P;P	0.61201	0.838;0.885;0.838	T	0.56408	-0.7984	10	0.35671	T	0.21	-18.134	8.8255	0.35052	0.0:0.4946:0.0:0.5054	.	289;289;331	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	D	331;331;289	ENSP00000442784:E331D;ENSP00000376522:E331D;ENSP00000440775:E289D	ENSP00000376522:E331D	E	-	3	2	CEP112	61489624	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	0.765000	0.26546	-0.025000	0.13918	-0.237000	0.12165	GAG		0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		30	66	1	0	2.44e-19	3.39e-19	30	66				
ABCA9	10350	broad.mit.edu	37	17	67025355	67025355	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:67025355T>C	ENST00000340001.4	-	11	1670	c.1459A>G	c.(1459-1461)Aaa>Gaa	p.K487E	ABCA9_ENST00000370732.2_Missense_Mutation_p.K487E|ABCA9_ENST00000453985.2_Missense_Mutation_p.K487E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	487	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATTCTTTTTTAAGATTTTTG	0.328																																						uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1459-1461)AAA>GAA		ATP-binding cassette, sub-family A, member 9							32.0	30.0	31.0					17																	67025355		2201	4293	6494	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67025355T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1459A>G	17.37:g.67025355T>C	ENSP00000342216:p.Lys487Glu					ABCA9_uc010dez.2_Missense_Mutation_p.K487E	p.K487E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			11	1602	-	Breast(10;1.47e-12)		487			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1459A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333352	0.41297	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.38887	1.11;1.11	5.22	4.07	0.47477	ABC transporter-like (1);	0.133263	0.33217	N	0.005152	T	0.27594	0.0678	N	0.17278	0.47	0.35302	D	0.783095	B;B	0.26975	0.165;0.013	B;B	0.30401	0.115;0.022	T	0.35276	-0.9795	10	0.35671	T	0.21	.	10.9006	0.47049	0.1403:0.0:0.0:0.8597	.	487;487	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	E	487;470;487;482	ENSP00000342216:K487E;ENSP00000359767:K487E	ENSP00000342216:K487E	K	-	1	0	ABCA9	64536950	0.915000	0.31059	0.981000	0.43875	0.910000	0.53928	1.221000	0.32503	2.100000	0.63781	0.523000	0.50628	AAA		0.328	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		23	36	0	0	0	0	23	36				
CBX8	57332	broad.mit.edu	37	17	77768668	77768668	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr17:77768668G>T	ENST00000269385.4	-	5	1053	c.936C>A	c.(934-936)ggC>ggA	p.G312G	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	312					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTGGGGGGGCCTGAGCCAT	0.692																																						uc002jxd.1		NA																	0					0						c.(934-936)GGC>GGA		chromobox homolog 8							13.0	15.0	15.0					17																	77768668		2193	4279	6472	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768668G>T	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.936C>A	17.37:g.77768668G>T							p.G312G	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1029	-			312					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.936C>A	CCDS11765.1																																																																																				0.692	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		15	24	1	0	1.5e-05	1.72e-05	15	24				
COLEC12	81035	broad.mit.edu	37	18	346445	346445	+	Missense_Mutation	SNP	G	G	A	rs140549407		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:346445G>A	ENST00000400256.3	-	5	1384	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	393					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAATCCAAACGGATGTTGGCC	0.433																																						uc002kkm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1177-1179)CGT>TGT		collectin sub-family member 12		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	158.0	167.0		1177	4.9	1.0	18	dbSNP_134	167	0,8600		0,0,4300	no	missense	COLEC12	NM_130386.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	393/743	346445	1,13005	2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:346445G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1177C>T	18.37:g.346445G>A	ENSP00000383115:p.Arg393Cys						p.R393C	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1392	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	393			Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1177C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924383	0.34002	2.27E-4	0.0	ENSG00000158270	ENST00000400256	T	0.78595	-1.19	5.76	4.89	0.63831	.	0.094281	0.64402	D	0.000001	T	0.67896	0.2942	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.64588	-0.6372	10	0.56958	D	0.05	-10.825	14.8215	0.70077	0.0692:0.0:0.9308:0.0	.	393	Q5KU26	COL12_HUMAN	C	393	ENSP00000383115:R393C	ENSP00000383115:R393C	R	-	1	0	COLEC12	336445	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.369000	0.66138	1.443000	0.47586	-0.140000	0.14226	CGT		0.433	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			202	76	0	0	0	0	202	76				
EPB41L3	23136	broad.mit.edu	37	18	5397093	5397093	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:5397093G>T	ENST00000341928.2	-	18	3145	c.2805C>A	c.(2803-2805)caC>caA	p.H935Q	EPB41L3_ENST00000540638.2_Missense_Mutation_p.H713Q|EPB41L3_ENST00000544123.1_Missense_Mutation_p.H766Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.H713Q|EPB41L3_ENST00000542146.1_Missense_Mutation_p.H240Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.H935Q|EPB41L3_ENST00000427684.2_Missense_Mutation_p.H232Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	935	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTTCTGAAATGTGGATGGCTG	0.438																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(2803-2805)CAC>CAA		erythrocyte membrane protein band 4.1-like 3							83.0	77.0	79.0					18																	5397093		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397093G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2805C>A	18.37:g.5397093G>T	ENSP00000343158:p.His935Gln					EPB41L3_uc010wzh.1_Missense_Mutation_p.H766Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.H713Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.H604Q|EPB41L3_uc002kms.1_Missense_Mutation_p.H170Q|EPB41L3_uc010wze.1_Missense_Mutation_p.H240Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.H232Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.H207Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.H327Q	p.H935Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2891	-			935			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2805C>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	2.807	-0.247782	0.05867	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.87	-0.775	0.10988	.	0.558093	0.18274	N	0.146233	T	0.32585	0.0834	L	0.53249	1.67	0.09310	N	1	B;B;B;B;B;B;B;B	0.32071	0.355;0.197;0.006;0.015;0.0;0.001;0.003;0.009	B;B;B;B;B;B;B;B	0.30401	0.115;0.111;0.025;0.018;0.0;0.016;0.002;0.004	T	0.18241	-1.0343	10	0.16896	T	0.51	.	4.7342	0.12979	0.1972:0.4244:0.2876:0.0908	.	766;232;240;327;604;713;935;170	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	Q	935;604;766;604;232;240;935;713	ENSP00000343158:H935Q;ENSP00000441174:H766Q;ENSP00000392195:H232Q;ENSP00000442233:H240Q;ENSP00000341138:H935Q;ENSP00000382981:H713Q	ENSP00000343158:H935Q	H	-	3	2	EPB41L3	5387093	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.352000	0.07701	-0.137000	0.11455	0.591000	0.81541	CAC		0.438	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		221	96	1	0	1.59e-58	2.4e-58	221	96				
LAMA1	284217	broad.mit.edu	37	18	7037668	7037668	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:7037668C>T	ENST00000389658.3	-	12	1739	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	549	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GACCTGATGGCGCCCGCCTAG	0.547																																						uc002knm.2		NA																	0		p.R549C(1)		ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(1645-1647)CGC>CAC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						101.0	86.0	91.0					18																	7037668		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7037668C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1646G>A	18.37:g.7037668C>T	ENSP00000374309:p.Arg549His					LAMA1_uc010wzj.1_Missense_Mutation_p.R25H	p.R549H	NM_005559	NP_005550	P25391	LAMA1_HUMAN			12	1740	-		Colorectal(10;0.172)	549			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1646G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561898	0.03939	.	.	ENSG00000101680	ENST00000389658	T	0.18810	2.19	5.43	-2.56	0.06268	Laminin B type IV (1);	0.503483	0.19469	N	0.113485	T	0.06280	0.0162	N	0.04508	-0.205	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.16719	-1.0393	10	0.42905	T	0.14	.	0.8027	0.01078	0.1889:0.1742:0.2728:0.3641	.	549	P25391	LAMA1_HUMAN	H	549	ENSP00000374309:R549H	ENSP00000374309:R549H	R	-	2	0	LAMA1	7027668	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.244000	0.08903	-0.553000	0.06158	-0.221000	0.12465	CGC		0.547	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		180	73	0	0	0	0	180	73				
CEP192	55125	broad.mit.edu	37	18	13053023	13053023	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13053023G>T	ENST00000325971.8	+	16	2928	c.1335G>T	c.(1333-1335)acG>acT	p.T445T	CEP192_ENST00000430049.2_Silent_p.T566T|CEP192_ENST00000506447.1_Silent_p.T1041T			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	445					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGGCTGACGTATGTGTCTG	0.562																																						uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(3121-3123)ACG>ACT		centrosomal protein 192kDa							145.0	140.0	142.0					18																	13053023		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13053023G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1335G>T	18.37:g.13053023G>T						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.T566T|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'Flank|CEP192_uc002krs.1_Silent_p.T782T	p.T1041T	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			18	3203	+			1041					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.3123G>T																																																																																					0.562	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		83	457	1	0	1.46e-26	2.11e-26	83	457				
MAPK4	5596	broad.mit.edu	37	18	48248423	48248423	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:48248423G>C	ENST00000400384.2	+	4	1843	c.807G>C	c.(805-807)gaG>gaC	p.E269D	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E58D	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCACCTGGGAGGTGAAGAGGC	0.582																																						uc002lev.2		NA																	0				lung(4)|skin(2)	6						c.(805-807)GAG>GAC		mitogen-activated protein kinase 4							64.0	73.0	70.0					18																	48248423		2072	4207	6279	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48248423G>C	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.807G>C	18.37:g.48248423G>C	ENSP00000383234:p.Glu269Asp					MAPK4_uc010xdm.1_Missense_Mutation_p.E58D|MAPK4_uc010doz.2_Intron	p.E269D	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	4	1807	+		Colorectal(6;0.0297)	269			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.807G>C	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533296	0.45073	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.43294	0.95;0.95	5.7	1.42	0.22433	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.078670	0.51477	D	0.000090	T	0.27900	0.0687	N	0.21282	0.65	0.80722	D	1	B	0.17038	0.02	B	0.21546	0.035	T	0.08994	-1.0695	10	0.59425	D	0.04	-7.2664	9.9196	0.41457	0.3664:0.0:0.6336:0.0	.	269	P31152	MK04_HUMAN	D	269;58	ENSP00000383234:E269D;ENSP00000439231:E58D	ENSP00000383234:E269D	E	+	3	2	MAPK4	46502421	0.877000	0.30153	0.999000	0.59377	0.985000	0.73830	-0.064000	0.11636	0.352000	0.24053	-0.254000	0.11334	GAG		0.582	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		10	20	0	0	0	0	10	20				
CDH7	1005	broad.mit.edu	37	18	63530053	63530053	+	Missense_Mutation	SNP	C	C	A	rs138789170	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:63530053C>A	ENST00000397968.2	+	11	2190	c.1764C>A	c.(1762-1764)gaC>gaA	p.D588E	RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000323011.3_Missense_Mutation_p.D588E|CDH7_ENST00000536984.2_Missense_Mutation_p.D588E	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	588	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D588D(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGATGCTGACGGCGTAGCCC	0.522																																						uc002ljz.2		NA																	2	Substitution - coding silent(2)		kidney(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1762-1764)GAC>GAA		cadherin 7, type 2 preproprotein							120.0	94.0	103.0					18																	63530053		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63530053C>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1764C>A	18.37:g.63530053C>A	ENSP00000381058:p.Asp588Glu					CDH7_uc002lka.2_Missense_Mutation_p.D588E|CDH7_uc002lkb.2_Missense_Mutation_p.D588E	p.D588E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			11	2089	+		Esophageal squamous(42;0.129)	588			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1764C>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109824	0.20714	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53640	0.61;0.64;0.61	5.37	-7.21	0.01490	Cadherin (2);	0.052873	0.64402	D	0.000001	T	0.31734	0.0806	L	0.31578	0.945	0.51767	D	0.999932	B;P	0.49358	0.043;0.923	B;B	0.44224	0.062;0.444	T	0.49634	-0.8919	10	0.35671	T	0.21	.	14.2758	0.66179	0.0:0.5147:0.0:0.4853	.	588;588	F5H5X9;Q9ULB5	.;CADH7_HUMAN	E	588	ENSP00000319166:D588E;ENSP00000443030:D588E;ENSP00000381058:D588E	ENSP00000319166:D588E	D	+	3	2	CDH7	61681033	0.006000	0.16342	0.004000	0.12327	0.143000	0.21401	-1.172000	0.03112	-1.797000	0.01252	-0.229000	0.12294	GAC		0.522	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		27	26	1	0	1.25e-16	1.68e-16	27	26				
RBFA	79863	broad.mit.edu	37	18	77794529	77794529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:77794529C>T	ENST00000306735.5	+	1	172	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	TXNL4A_ENST00000592957.1_5'Flank|RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.R12C|TXNL4A_ENST00000589926.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.R12C|TXNL4A_ENST00000585474.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	12					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GTGGCGCTCCCGCGCGGGTCT	0.716																																						uc002lns.2		NA																	0					0						c.(34-36)CGC>TGC		hypothetical protein LOC79863 precursor							8.0	10.0	10.0					18																	77794529		2162	4238	6400	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794529C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.34C>T	18.37:g.77794529C>T	ENSP00000305696:p.Arg12Cys					TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.R12C|C18orf22_uc010dri.1_RNA	p.R12C	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	172	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	12					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.34C>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	c	10.27	1.302648	0.23736	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.50277	0.75;1.89	2.73	0.704	0.18121	.	.	.	.	.	T	0.27866	0.0686	N	0.22421	0.69	0.09310	N	1	B;B	0.21821	0.061;0.002	B;B	0.08055	0.003;0.0	T	0.17349	-1.0372	9	0.46703	T	0.11	0.5985	3.2685	0.06873	0.0:0.5416:0.2813:0.1771	.	12;12	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	C	12	ENSP00000262197:R12C;ENSP00000305696:R12C	ENSP00000262197:R12C	R	+	1	0	RBFA	75895517	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.984000	0.03755	0.021000	0.15133	0.556000	0.70494	CGC		0.716	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		12	11	0	0	0	0	12	11				
WDR18	57418	broad.mit.edu	37	19	990234	990234	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:990234C>A	ENST00000251289.5	+	4	490	c.467C>A	c.(466-468)gCc>gAc	p.A156D	WDR18_ENST00000587001.2_Missense_Mutation_p.A156D|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	156					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGCAGGCCGACCCCTCC	0.721																																						uc002lqm.1		NA																	0				skin(1)	1						c.(466-468)GCC>GAC		WD repeat domain 18							18.0	20.0	19.0					19																	990234		2192	4288	6480	SO:0001583	missense	57418							g.chr19:990234C>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.467C>A	19.37:g.990234C>A	ENSP00000251289:p.Ala156Asp					WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.A119D|WDR18_uc010dry.1_Missense_Mutation_p.A156D	p.A156D	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	493	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	156			WD 3.		O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	c.467C>A	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	8.208	0.799601	0.16397	.	.	ENSG00000065268	ENST00000251289	T	0.69561	-0.41	4.12	-6.42	0.01932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.681566	0.14269	N	0.330280	T	0.45955	0.1368	L	0.27053	0.805	0.09310	N	0.999991	B	0.28208	0.203	B	0.30316	0.114	T	0.37776	-0.9691	10	0.12766	T	0.61	-0.0023	13.7928	0.63152	0.0:0.2977:0.0:0.7023	.	156	Q9BV38	WDR18_HUMAN	D	156	ENSP00000251289:A156D	ENSP00000251289:A156D	A	+	2	0	WDR18	941234	0.137000	0.22531	0.007000	0.13788	0.906000	0.53458	0.215000	0.17562	-1.257000	0.02475	0.556000	0.70494	GCC		0.721	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			8	30	1	0	1.13e-05	1.3e-05	8	30				
SBNO2	22904	broad.mit.edu	37	19	1105707	1105707	+	IGR	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:1105707C>G	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Silent_p.V125V|GPX4_ENST00000589115.1_Silent_p.V125V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACAACGTCAAATTCGATA	0.587																																						uc010xgg.1		NA																	0					0						c.(373-375)GTC>GTG		glutathione peroxidase 4 isoform A precursor	Glutathione(DB00143)						49.0	55.0	53.0					19																	1105707		2070	4185	6255	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105707C>G	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105707C>G						GPX4_uc010xgh.1_Silent_p.V125V|GPX4_uc010xgi.1_Silent_p.V162V	p.V125V	NM_002085	NP_002076	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	482	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	125					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.375C>G	CCDS45894.1																																																																																				0.587	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		8	15	0	0	0	0	8	15				
ARRDC5	645432	broad.mit.edu	37	19	4891219	4891219	+	Missense_Mutation	SNP	G	G	C	rs369148360		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:4891219G>C	ENST00000381781.2	-	3	867	c.868C>G	c.(868-870)Cac>Gac	p.H290D	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	290										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGCGAGTGTGCATGATCTCA	0.612																																						uc002mbm.2		NA																	0					0						c.(868-870)CAC>GAC		arrestin domain containing 5							142.0	149.0	147.0					19																	4891219		2166	4252	6418	SO:0001583	missense	645432				signal transduction			g.chr19:4891219G>C		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.868C>G	19.37:g.4891219G>C	ENSP00000371200:p.His290Asp						p.H290D	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	868	-			290						Missense_Mutation	SNP	ENST00000381781.2	37	c.868C>G	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161212	0.21538	.	.	ENSG00000205784	ENST00000381781	T	0.16324	2.35	4.91	-2.83	0.05769	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	1.269220	0.05286	N	0.520182	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38200	-0.9672	10	0.09843	T	0.71	-1.1738	7.6588	0.28392	0.0:0.2122:0.5777:0.2101	.	290	A6NEK1	ARRD5_HUMAN	D	290	ENSP00000371200:H290D	ENSP00000371200:H290D	H	-	1	0	ARRDC5	4842219	0.112000	0.22096	0.007000	0.13788	0.001000	0.01503	0.091000	0.15046	-0.496000	0.06650	-1.036000	0.02392	CAC		0.612	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		68	159	0	0	0	0	68	159				
PPAN	56342	broad.mit.edu	37	19	10221172	10221172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:10221172G>A	ENST00000253107.7	+	10	1019	c.913G>A	c.(913-915)Gag>Aag	p.E305K	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.E305K|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E305K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E305K|SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.E252K	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	305					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCAAGACGGAGGAGGAGCT	0.657																																						uc002mna.2		NA																	0				ovary(2)	2						c.(913-915)GAG>AAG		PPAN-P2RY11 protein							20.0	23.0	22.0					19																	10221172		2203	4292	6495	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221172G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.913G>A	19.37:g.10221172G>A	ENSP00000253107:p.Glu305Lys					PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.E305K|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.E305K|PPAN_uc002mnb.1_Missense_Mutation_p.E252K	p.E305K	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		10	913	+			305					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.913G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202790	0.79127	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793	T;T;T;T;T	0.61392	1.55;0.11;1.57;0.11;1.58	4.78	3.73	0.42828	.	.	.	.	.	T	0.61540	0.2355	N	0.25332	0.735	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.57464	-0.7807	9	0.27785	T	0.31	-48.7151	13.234	0.59958	0.0:0.0:0.8393:0.1607	.	305;305;305	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	K	305;305;305;305;305;252	ENSP00000411918:E305K;ENSP00000377385:E305K;ENSP00000253107:E305K;ENSP00000450710:E305K;ENSP00000377382:E252K	ENSP00000253107:E305K	E	+	1	0	PPAN;PPAN-P2RY11	10082172	0.735000	0.28153	0.703000	0.30354	0.870000	0.49936	3.684000	0.54671	0.992000	0.38840	0.561000	0.74099	GAG		0.657	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		6	19	0	0	0	0	6	19				
SWSAP1	126074	broad.mit.edu	37	19	11486219	11486219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:11486219C>G	ENST00000312423.2	+	2	276	c.217C>G	c.(217-219)Cga>Gga	p.R73G	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	73					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)	p.R73R(1)									ACCCTCAACCCGAGAGCTTTT	0.592																																						uc002mrg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)CGA>GGA		hypothetical protein LOC126074							112.0	131.0	125.0					19																	11486219		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11486219C>G	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.217C>G	19.37:g.11486219C>G	ENSP00000310008:p.Arg73Gly						p.R73G	NM_175871	NP_787067	Q6NVH7	CS039_HUMAN			2	254	+			73					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.217C>G	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397391	0.42512	.	.	ENSG00000173928	ENST00000312423	T	0.77489	-1.1	5.08	2.81	0.32909	.	1.151720	0.06312	N	0.702805	T	0.72684	0.3491	L	0.47716	1.5	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.59616	-0.7421	10	0.46703	T	0.11	0.6295	9.4411	0.38668	0.1614:0.683:0.1556:0.0	.	73	Q6NVH7	CS039_HUMAN	G	73	ENSP00000310008:R73G	ENSP00000310008:R73G	R	+	1	2	C19orf39	11347219	0.000000	0.05858	0.016000	0.15963	0.984000	0.73092	0.922000	0.28734	1.113000	0.41760	0.655000	0.94253	CGA		0.592	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		72	182	0	0	0	0	72	182				
RFX1	5989	broad.mit.edu	37	19	14074050	14074050	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:14074050C>A	ENST00000254325.4	-	19	2842	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	870	Necessary for dimerization.				immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGAAGCTGGCGGCGCTGCGC	0.672																																						uc002mxv.2		NA																	0				lung(1)|pancreas(1)	2						c.(2608-2610)GCC>TCC		regulatory factor X1							65.0	50.0	55.0					19																	14074050		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14074050C>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2608G>T	19.37:g.14074050C>A	ENSP00000254325:p.Ala870Ser						p.A870S	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		19	2880	-			870			Necessary for dimerization.			Missense_Mutation	SNP	ENST00000254325.4	37	c.2608G>T	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	c	27.1	4.804496	0.90623	.	.	ENSG00000132005	ENST00000254325	T	0.38887	1.11	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	L	0.41961	1.31	0.80722	D	1	D	0.60160	0.987	P	0.59761	0.863	T	0.39461	-0.9613	10	0.23302	T	0.38	-28.1926	17.1643	0.86811	0.0:1.0:0.0:0.0	.	870	P22670	RFX1_HUMAN	S	870	ENSP00000254325:A870S	ENSP00000254325:A870S	A	-	1	0	RFX1	13935050	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.667000	0.83888	2.360000	0.80028	0.430000	0.28490	GCC		0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		12	30	1	0	1.05e-09	1.31e-09	12	30				
OR10H5	284433	broad.mit.edu	37	19	15905710	15905710	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15905710C>A	ENST00000308940.8	+	1	950	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCACACCCTTCCTCAGCC	0.527																																						uc010xos.1		NA																	0				ovary(1)	1						c.(850-852)CCC>CCA		olfactory receptor, family 10, subfamily H,							85.0	71.0	76.0					19																	15905710		2203	4298	6501	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905710C>A	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.852C>A	19.37:g.15905710C>A							p.P284P	NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN			1	852	+			284			Helical; Name=7; (Potential).		Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.852C>A	CCDS32940.1																																																																																				0.527	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			22	44	1	0	4.48e-21	6.31e-21	22	44				
CYP4F2	8529	broad.mit.edu	37	19	15989674	15989674	+	Silent	SNP	G	G	A	rs150488576	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:15989674G>A	ENST00000221700.6	-	13	1565	c.1470C>T	c.(1468-1470)cgC>cgT	p.R490R		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCAGGACGCGGAAGCGCA	0.672													.|||	4	0.000798722	0.0015	0.0014	5008	,	,		16066	0.0		0.001	False		,,,				2504	0.0					uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.(1468-1470)CGC>CGT		cytochrome P450, family 4, subfamily F,		G		10,4396	16.8+/-37.8	0,10,2193	40.0	38.0	39.0		1470	-5.2	0.0	19	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	CYP4F2	NM_001082.3		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		490/521	15989674	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989674G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1470C>T	19.37:g.15989674G>A						CYP4F2_uc010xot.1_Silent_p.R341R	p.R490R	NM_001082	NP_001073	P78329	CP4F2_HUMAN			13	1520	-			490						Silent	SNP	ENST00000221700.6	37	c.1470C>T	CCDS12336.1																																																																																				0.672	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		12	52	0	0	0	0	12	52				
NWD1	284434	broad.mit.edu	37	19	16861004	16861004	+	Silent	SNP	G	G	A	rs148902093		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:16861004G>A	ENST00000552788.1	+	4	1551	c.1551G>A	c.(1549-1551)ccG>ccA	p.P517P	NWD1_ENST00000379808.3_Silent_p.P517P|NWD1_ENST00000524140.2_Silent_p.P517P|NWD1_ENST00000549814.1_Silent_p.P517P|NWD1_ENST00000523826.1_Silent_p.P311P|NWD1_ENST00000339803.6_Silent_p.P382P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	517	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCTGAGCCCGGTGCACACAG	0.632																																						uc002neu.3		NA																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(1549-1551)CCG>CCA		RecName: Full=NACHT and WD repeat domain-containing protein 1;		G		0,4404		0,0,2202	37.0	37.0	37.0		1551	-10.1	0.0	19	dbSNP_134	37	1,8599		0,1,4299	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		517/1433	16861004	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16861004G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1551G>A	19.37:g.16861004G>A						NWD1_uc002net.3_Silent_p.P382P|NWD1_uc002nev.3_Silent_p.P311P	p.P517P			Q149M9	NWD1_HUMAN			6	1973	+			517			NACHT.		C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.1551G>A																																																																																					0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		29	73	0	0	0	0	29	73				
PGLS	25796	broad.mit.edu	37	19	17631872	17631872	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:17631872G>A	ENST00000252603.2	+	5	803	c.759G>A	c.(757-759)gaG>gaA	p.E253E	CTD-3131K8.3_ENST00000596192.1_RNA|FAM129C_ENST00000300971.2_5'Flank|FAM129C_ENST00000595684.1_5'Flank|FAM129C_ENST00000335393.4_5'Flank|FAM129C_ENST00000352727.3_5'Flank|FAM129C_ENST00000332386.5_5'Flank	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	253					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						TGCCCTTCGAGAAGCATTCCA	0.701																																						uc002ngw.2		NA																	0					0						c.(757-759)GAG>GAA		6-phosphogluconolactonase							15.0	15.0	15.0					19																	17631872		2200	4295	6495	SO:0001819	synonymous_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17631872G>A	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.759G>A	19.37:g.17631872G>A						FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	p.E253E	NM_012088	NP_036220	O95336	6PGL_HUMAN			5	809	+			253						Silent	SNP	ENST00000252603.2	37	c.759G>A	CCDS12361.1																																																																																				0.701	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			5	11	0	0	0	0	5	11				
ZNF257	113835	broad.mit.edu	37	19	22271667	22271667	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22271667A>T	ENST00000594947.1	+	4	1259	c.1115A>T	c.(1114-1116)tAc>tTc	p.Y372F		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAAACCCTACAAATGTGAA	0.383																																						uc010ecx.2		NA																	0					0						c.(1114-1116)TAC>TTC		zinc finger protein 257							37.0	42.0	40.0					19																	22271667		2117	4255	6372	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271667A>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1115A>T	19.37:g.22271667A>T	ENSP00000470209:p.Tyr372Phe					ZNF257_uc010ecy.2_Missense_Mutation_p.Y340F	p.Y372F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1284	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	372			C2H2-type 8.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1115A>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	A	5.973	0.363549	0.11296	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	N	0.04820	-0.15	0.09310	N	1	B	0.27823	0.19	B	0.28849	0.095	T	0.22906	-1.0203	8	0.46703	T	0.11	.	7.1199	0.25437	1.0:0.0:0.0:0.0	.	372	Q9Y2Q1	ZN257_HUMAN	F	372;344	.	ENSP00000380312:Y344F	Y	+	2	0	ZNF257	22063507	0.000000	0.05858	0.136000	0.22124	0.157000	0.22087	0.873000	0.28052	0.436000	0.26393	0.260000	0.18958	TAC		0.383	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			12	38	0	0	0	0	12	38				
ZNF98	148198	broad.mit.edu	37	19	22586259	22586259	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:22586259C>A	ENST00000357774.5	-	2	207	c.86G>T	c.(85-87)tGc>tTc	p.C29F	ZNF98_ENST00000601553.1_Missense_Mutation_p.C29F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTGTCCAGGCATTGCCACTC	0.413																																						uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(85-87)TGC>TTC		zinc finger protein 98							85.0	91.0	89.0					19																	22586259		2201	4297	6498	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22586259C>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.86G>T	19.37:g.22586259C>A	ENSP00000350418:p.Cys29Phe						p.C29F	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			2	208	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	29			KRAB.			Missense_Mutation	SNP	ENST00000357774.5	37	c.86G>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	5.982	0.365158	0.11296	.	.	ENSG00000197360	ENST00000357774	T	0.01787	4.64	1.06	-0.855	0.10700	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	L	0.41492	1.28	0.09310	N	1	B	0.31581	0.329	B	0.37304	0.246	T	0.47058	-0.9146	9	0.54805	T	0.06	.	3.5131	0.07716	0.444:0.556:0.0:0.0	.	29	A6NK75	ZNF98_HUMAN	F	29	ENSP00000350418:C29F	ENSP00000350418:C29F	C	-	2	0	ZNF98	22378099	0.000000	0.05858	0.066000	0.19879	0.248000	0.25809	-0.295000	0.08298	0.532000	0.28657	0.298000	0.19748	TGC		0.413	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		29	99	1	0	4.75e-14	6.24e-14	29	99				
ZNF536	9745	broad.mit.edu	37	19	31025860	31025860	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:31025860T>C	ENST00000355537.3	+	3	2424	c.2277T>C	c.(2275-2277)acT>acC	p.T759T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	759					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)					GTGGGAAAACTTTCCGGACAT	0.612																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2275-2277)ACT>ACC		zinc finger protein 536							106.0	103.0	104.0					19																	31025860		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025860T>C		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.2277T>C	19.37:g.31025860T>C						ZNF536_uc010edd.1_Silent_p.T759T	p.T759T	NM_014717	NP_055532	O15090	ZN536_HUMAN			3	2415	+	Esophageal squamous(110;0.0834)		759			C2H2-type 8.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.2277T>C	CCDS32984.1																																																																																				0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		49	109	0	0	0	0	49	109				
ZNF30	90075	broad.mit.edu	37	19	35435633	35435633	+	Missense_Mutation	SNP	G	G	A	rs369087430		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:35435633G>A	ENST00000601142.1	+	5	2000	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R507Q|ZNF30_ENST00000439785.1_Missense_Mutation_p.R589Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.R589Q			P17039	ZNF30_HUMAN	zinc finger protein 30	588					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAACATCAGCGGGTACACACT	0.403																																						uc010edp.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1762-1764)CGG>CAG		zinc finger protein 30 isoform b		G	GLN/ARG,GLN/ARG,GLN/ARG	1,4345		0,1,2172	41.0	46.0	44.0		1766,1766,1763	0.9	0.0	19		44	0,8570		0,0,4285	no	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	43,43,43	0,1,6457	AA,AG,GG		0.0,0.023,0.0077	probably-damaging,probably-damaging,probably-damaging	589/625,589/625,588/624	35435633	1,12915	2173	4285	6458	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435633G>A	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1763G>A	19.37:g.35435633G>A	ENSP00000469954:p.Arg588Gln					ZNF30_uc002nxf.2_Missense_Mutation_p.R507Q|ZNF30_uc010edq.1_Missense_Mutation_p.R589Q|ZNF30_uc010edr.1_Missense_Mutation_p.R589Q	p.R588Q	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	2141	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		588			C2H2-type 17.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1763G>A	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.710700	0.48517	2.3E-4	0.0	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.24723	1.84;1.84	1.99	0.89	0.19218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41373	0.1156	M	0.69358	2.11	0.21604	N	0.999627	D;D	0.89917	0.999;1.0	D;D	0.65010	0.931;0.927	T	0.15694	-1.0428	9	0.62326	D	0.03	.	6.5737	0.22553	0.1655:0.0:0.8345:0.0	.	589;588	P17039-2;P17039	.;ZNF30_HUMAN	Q	589;588;507;297	ENSP00000403441:R589Q;ENSP00000416457:R507Q	ENSP00000303889:R588Q	R	+	2	0	ZNF30	40127473	0.000000	0.05858	0.032000	0.17829	0.024000	0.10985	0.209000	0.17435	0.172000	0.19760	-0.302000	0.09304	CGG		0.403	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		15	26	0	0	0	0	15	26				
NFKBID	84807	broad.mit.edu	37	19	36381394	36381394	+	Splice_Site	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:36381394T>A	ENST00000396901.1	-	10	1180		c.e10-2		NFKBID_ENST00000340950.2_Splice_Site|NFKBID_ENST00000606253.1_Splice_Site|NFKBID_ENST00000352614.2_Splice_Site	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta						inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CTTGATCTCCTGAGGGGAAGG	0.617																																						uc002oci.1		NA																	0					0						c.e10-1		nuclear factor of kappa light polypeptide gene							76.0	80.0	79.0					19																	36381394		2041	4173	6214	SO:0001630	splice_region_variant	84807				inflammatory response	nucleus		g.chr19:36381394T>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.607-2A>T	19.37:g.36381394T>A						NFKBID_uc002och.1_Splice_Site_p.E40_splice|NFKBID_uc002ocj.1_Splice_Site_p.E218_splice	p.E203_splice	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN			10	1181	-								Q8NI39|Q9BRG9	Splice_Site	SNP	ENST00000396901.1	37	c.607_splice	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.869639	0.33069	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5456	0.50693	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFKBID	41073234	1.000000	0.71417	0.917000	0.36280	0.335000	0.28730	6.790000	0.75115	1.605000	0.50152	0.379000	0.24179	.		0.617	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721	Intron	49	87	0	0	0	0	49	87				
SIPA1L3	23094	broad.mit.edu	37	19	38610472	38610472	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:38610472G>T	ENST00000222345.6	+	9	3327	c.2818G>T	c.(2818-2820)Gcg>Tcg	p.A940S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	940					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTCCTACAGGCGACAGAGGG	0.542																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2818-2820)GCG>TCG		signal-induced proliferation-associated 1 like							39.0	42.0	41.0					19																	38610472		2202	4300	6502	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610472G>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2818G>T	19.37:g.38610472G>T	ENSP00000222345:p.Ala940Ser						p.A940S	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3327	+			940					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2818G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.735181	0.00681	.	.	ENSG00000105738	ENST00000222345	T	0.74737	-0.87	5.63	-0.783	0.10958	.	0.513397	0.20949	N	0.082796	T	0.37348	0.1000	N	0.02011	-0.69	0.20307	N	0.999917	B	0.13145	0.007	B	0.14578	0.011	T	0.38887	-0.9640	10	0.06365	T	0.9	-20.4607	6.361	0.21429	0.1418:0.0:0.3298:0.5283	.	940	O60292	SI1L3_HUMAN	S	940	ENSP00000222345:A940S	ENSP00000222345:A940S	A	+	1	0	SIPA1L3	43302312	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	0.783000	0.26802	0.017000	0.15025	0.655000	0.94253	GCG		0.542	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		22	44	1	0	3.1e-05	3.53e-05	22	44				
IFNL2	282616	broad.mit.edu	37	19	39760161	39760161	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:39760161C>T	ENST00000331982.5	+	4	359	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	102					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GGAGGCTGAGCTGGCCCTGAC	0.627																																						uc002oku.1		NA																	0				ovary(1)|skin(1)	2						c.(304-306)CTG>TTG		interleukin 28A precursor							40.0	45.0	43.0					19																	39760161		2203	4300	6503	SO:0001819	synonymous_variant	282616				response to virus	extracellular space	cytokine activity	g.chr19:39760161C>T	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.304C>T	19.37:g.39760161C>T							p.L102L	NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		4	356	+	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		102					Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.304C>T	CCDS42567.1																																																																																				0.627	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		16	42	0	0	0	0	16	42				
SERTAD1	29950	broad.mit.edu	37	19	40929371	40929371	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:40929371G>A	ENST00000357949.4	-	2	241	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTGGCCAGGATCTAGCCA	0.627																																						uc002ont.3		NA																	0					0						c.(82-84)CCT>CTT		SERTA domain containing 1							27.0	31.0	30.0					19																	40929371		2188	4279	6467	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929371G>A	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.83C>T	19.37:g.40929371G>A	ENSP00000350633:p.Pro28Leu						p.P28L	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	242	-			28					Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.83C>T	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771015	0.31320	.	.	ENSG00000197019	ENST00000357949	T	0.45668	0.89	5.0	3.95	0.45737	.	0.460210	0.19146	N	0.121562	T	0.29652	0.0740	L	0.27053	0.805	0.44627	D	0.997607	P	0.38195	0.622	B	0.33750	0.169	T	0.14227	-1.0480	10	0.87932	D	0	-0.1619	12.303	0.54884	0.0:0.0:0.6951:0.3049	.	28	Q9UHV2	SRTD1_HUMAN	L	28	ENSP00000350633:P28L	ENSP00000350633:P28L	P	-	2	0	SERTAD1	45621211	0.244000	0.23889	0.761000	0.31378	0.451000	0.32288	1.656000	0.37355	1.072000	0.40860	0.561000	0.74099	CCT		0.627	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		12	50	0	0	0	0	12	50				
ERCC2	2068	broad.mit.edu	37	19	45872213	45872213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:45872213G>T	ENST00000391945.4	-	4	298	c.221C>A	c.(220-222)tCa>tAa	p.S74*	ERCC2_ENST00000221481.6_Nonsense_Mutation_p.S74*|ERCC2_ENST00000391940.4_Nonsense_Mutation_p.S50*|ERCC2_ENST00000391944.3_Nonsense_Mutation_p.S74*|ERCC2_ENST00000485403.2_Nonsense_Mutation_p.S50*	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	74	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACAGTTCTTGAGCAGTAGAT	0.582			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NA	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(220-222)TCA>TAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							157.0	140.0	145.0					19																	45872213		2203	4300	6503	SO:0001587	stop_gained	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45872213G>T		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.221C>A	19.37:g.45872213G>T	ENSP00000375809:p.Ser74*					ERCC2_uc010ejz.2_Nonsense_Mutation_p.S74*|ERCC2_uc002pbk.2_Nonsense_Mutation_p.S50*|ERCC2_uc002pbl.3_Nonsense_Mutation_p.S50*|ERCC2_uc010xxj.1_RNA	p.S74*	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	4	268	-		Ovarian(192;0.0728)|all_neural(266;0.112)	74			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Nonsense_Mutation	SNP	ENST00000391945.4	37	c.221C>A	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	36	5.674873	0.96764	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940;ENST00000221481	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3001	16.731	0.85435	0.0:0.0:1.0:0.0	.	.	.	.	X	24;50;74;74;50;74	.	ENSP00000221481:S74X	S	-	2	0	ERCC2	50564053	1.000000	0.71417	0.976000	0.42696	0.867000	0.49689	8.289000	0.89923	2.537000	0.85549	0.561000	0.74099	TCA		0.582	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		29	75	1	0	4.23e-11	5.36e-11	29	75				
FOXA3	3171	broad.mit.edu	37	19	46376291	46376291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:46376291C>T	ENST00000302177.2	+	2	1225	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	343					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S343Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GGCCTCTATTCCCGCTCTTTG	0.582																																						uc002pdr.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1027-1029)TCC>TTC		forkhead box A3							25.0	25.0	25.0					19																	46376291		2203	4297	6500	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46376291C>T	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.1028C>T	19.37:g.46376291C>T	ENSP00000304004:p.Ser343Phe						p.S343F	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	1225	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	343					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.1028C>T	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065013	0.36470	.	.	ENSG00000170608	ENST00000302177	D	0.92446	-3.04	4.53	4.53	0.55603	.	0.138351	0.47455	D	0.000240	D	0.86422	0.5929	N	0.14661	0.345	0.48040	D	0.999571	P	0.41041	0.736	B	0.41988	0.372	D	0.88976	0.3404	10	0.87932	D	0	.	15.1292	0.72507	0.0:1.0:0.0:0.0	.	343	P55318	FOXA3_HUMAN	F	343	ENSP00000304004:S343F	ENSP00000304004:S343F	S	+	2	0	FOXA3	51068131	0.949000	0.32298	1.000000	0.80357	0.895000	0.52256	0.738000	0.26158	2.502000	0.84385	0.579000	0.79373	TCC		0.582	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			10	18	0	0	0	0	10	18				
TRPM4	54795	broad.mit.edu	37	19	49684706	49684706	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:49684706C>T	ENST00000252826.5	+	10	1377	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.D417D|TRPM4_ENST00000601347.1_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	417					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCGGGGGGACATCCAATGGC	0.562																																						uc002pmw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1249-1251)GAC>GAT		transient receptor potential cation channel,							54.0	52.0	52.0					19																	49684706		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49684706C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1251C>T	19.37:g.49684706C>T						TRPM4_uc010emu.2_Silent_p.D417D|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Silent_p.D243D|TRPM4_uc010emv.2_Silent_p.D302D|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	p.D417D	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	10	1323	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	417			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.1251C>T	CCDS33073.1																																																																																				0.562	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		22	44	0	0	0	0	22	44				
POLD1	5424	broad.mit.edu	37	19	50919882	50919882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:50919882G>A	ENST00000440232.2	+	24	3022	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H	POLD1_ENST00000595904.1_Missense_Mutation_p.R1016H|SPIB_ENST00000595883.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Silent_p.A59A|SPIB_ENST00000439922.2_5'Flank|SPIB_ENST00000270632.7_5'Flank|POLD1_ENST00000599857.1_Missense_Mutation_p.R990H|SPIB_ENST00000597855.1_5'Flank|SPIB_ENST00000596074.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	990					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|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)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GACCACACGCGCTGCAAGACG	0.706								DNA polymerases (catalytic subunits)																														uc002psb.3		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(2968-2970)CGC>CAC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							8.0	11.0	10.0					19																	50919882		2169	4256	6425	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50919882G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2969G>A	19.37:g.50919882G>A	ENSP00000406046:p.Arg990His					POLD1_uc002psc.3_Missense_Mutation_p.R990H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R1016H|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	p.R990H	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	24	3025	+		all_neural(266;0.0571)	990					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.2969G>A	CCDS12795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.00|17.00	3.276491|3.276491	0.59649|0.59649	.|.	.|.	ENSG00000062822|ENSG00000062822	ENST00000376930|ENST00000440232	.|T	.|0.04502	.|3.61	2.69|2.69	2.69|2.69	0.31865|0.31865	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.33469|0.33469	0.0864|0.0864	H|H	0.97783|0.97783	4.075|4.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.58451|0.58451	-0.7634|-0.7634	6|10	0.59425|0.87932	D|D	0.04|0	-21.2853|-21.2853	13.2132|13.2132	0.59836|0.59836	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1016;990	.|E7EVW0;P28340	.|.;DPOD1_HUMAN	T|H	957|990	.|ENSP00000406046:R990H	ENSP00000366129:A957T|ENSP00000406046:R990H	A|R	+|+	1|2	0|0	POLD1|POLD1	55611694|55611694	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.183000|0.183000	0.23260|0.23260	5.722000|5.722000	0.68485|0.68485	1.828000|1.828000	0.53243|0.53243	0.550000|0.550000	0.68814|0.68814	GCT|CGC		0.706	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	7	0	0	0	0	3	7				
ZNF616	90317	broad.mit.edu	37	19	52620044	52620044	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:52620044G>T	ENST00000600228.1	-	4	634	c.373C>A	c.(373-375)Caa>Aaa	p.Q125K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	125					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)		TGACTATGTTGATCTCTTTTA	0.378																																						uc002pym.2		NA																	0					0						c.(373-375)CAA>AAA		zinc finger protein 616							218.0	194.0	202.0					19																	52620044		2202	4300	6502	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52620044G>T	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.373C>A	19.37:g.52620044G>T	ENSP00000471000:p.Gln125Lys					ZNF616_uc002pyn.2_RNA	p.Q125K	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	656	-			125					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.373C>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	0.794	-0.757739	0.03019	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.54	1.54	0.23209	.	.	.	.	.	T	0.23886	0.0578	L	0.33189	0.99	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29640	-1.0005	8	0.06365	T	0.9	.	4.9958	0.14237	0.0:0.0:0.6481:0.3519	.	125	Q08AN1	ZN616_HUMAN	K	125	.	ENSP00000328722:Q125K	Q	-	1	0	ZNF616	57311856	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	-0.585000	0.05794	0.838000	0.34948	0.305000	0.20034	CAA		0.378	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		64	165	1	0	1.55e-19	2.16e-19	64	165				
CACNG6	59285	broad.mit.edu	37	19	54515364	54515364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:54515364C>A	ENST00000252729.2	+	4	1294	c.704C>A	c.(703-705)gCc>gAc	p.A235D	CACNG6_ENST00000352529.1_Missense_Mutation_p.A164D|CACNG6_ENST00000346968.2_Missense_Mutation_p.A189D	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	235					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A235V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGTTGGGGGCCGGCTGCTTT	0.701																																						uc002qct.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)	2						c.(703-705)GCC>GAC		voltage-dependent calcium channel gamma-6							25.0	30.0	29.0					19																	54515364		2193	4285	6478	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515364C>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.704C>A	19.37:g.54515364C>A	ENSP00000252729:p.Ala235Asp					CACNG6_uc002qcu.2_Missense_Mutation_p.A189D|CACNG6_uc002qcv.2_Missense_Mutation_p.A164D	p.A235D	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1294	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		235			Helical; (Potential).			Missense_Mutation	SNP	ENST00000252729.2	37	c.704C>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243276	0.39697	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.74842	-0.88;1.43;1.43	3.76	-1.16	0.09678	.	0.141762	0.45361	D	0.000373	T	0.48840	0.1522	N	0.08118	0	0.09310	N	1	B;P;B	0.35272	0.275;0.493;0.157	B;B;B	0.34138	0.087;0.116;0.176	T	0.49588	-0.8924	10	0.87932	D	0	-1.1275	7.8048	0.29195	0.1076:0.566:0.3264:0.0	.	164;189;235	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	D	235;164;189	ENSP00000252729:A235D;ENSP00000319135:A164D;ENSP00000319097:A189D	ENSP00000252729:A235D	A	+	2	0	CACNG6	59207176	0.605000	0.26941	0.000000	0.03702	0.927000	0.56198	1.812000	0.38952	-0.056000	0.13221	0.558000	0.71614	GCC		0.701	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			39	52	1	0	1.62e-30	2.35e-30	39	52				
LILRB1	10859	broad.mit.edu	37	19	55148089	55148089	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:55148089C>A	ENST00000396331.1	+	15	2149	c.1792C>A	c.(1792-1794)Cag>Aag	p.Q598K	LILRB1_ENST00000427581.2_Missense_Mutation_p.Q649K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q599K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q600K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q582K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q599K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q598K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q598K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q582K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q600K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	598					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGAGGACAGGCAGATGGACAC	0.612										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1792-1794)CAG>AAG		leukocyte immunoglobulin-like receptor,							96.0	80.0	86.0					19																	55148089		2201	4296	6497	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148089C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1792C>A	19.37:g.55148089C>A	ENSP00000379622:p.Gln598Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.2_Missense_Mutation_p.Q599K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q599K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q600K|LILRB1_uc010erq.2_Missense_Mutation_p.Q582K|LILRB1_uc010err.2_RNA	p.Q598K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	15	2132	+			598			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1792C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	5.826	0.336648	0.11013	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00518	6.92;6.86;6.92;6.92;6.91;6.92;6.92;6.86;6.86;6.91	1.59	-3.19	0.05171	.	.	.	.	.	T	0.00468	0.0015	M	0.73962	2.25	0.09310	N	1	P;P;B;B;P	0.41313	0.745;0.571;0.172;0.4;0.651	B;B;B;B;B	0.33960	0.164;0.173;0.031;0.121;0.122	T	0.26710	-1.0095	9	0.66056	D	0.02	.	3.747	0.08552	0.0:0.3054:0.4234:0.2712	.	582;600;599;599;598	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	598;582;598;599;600;598;599;649;582;600	ENSP00000379614:Q598K;ENSP00000391514:Q582K;ENSP00000379622:Q598K;ENSP00000379618:Q599K;ENSP00000315997:Q600K;ENSP00000405243:Q598K;ENSP00000379623:Q599K;ENSP00000395004:Q649K;ENSP00000379610:Q582K;ENSP00000379608:Q600K	ENSP00000315997:Q600K	Q	+	1	0	LILRB1	59839901	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.413000	0.07123	-1.316000	0.02295	0.194000	0.17425	CAG		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			10	44	1	0	2.27e-07	2.74e-07	10	44				
ZSCAN5B	342933	broad.mit.edu	37	19	56703218	56703218	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:56703218C>A	ENST00000586855.2	-	3	902		c.e3+1		ZSCAN5B_ENST00000358992.3_Splice_Site			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B						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(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACACACTCACCTGCCTCCTG	0.607																																						uc010ygh.1		NA																	0				ovary(1)|skin(1)	2						c.e2+1		zinc finger and SCAN domain containing 5B							31.0	31.0	31.0					19																	56703218		2203	4300	6503	SO:0001630	splice_region_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56703218C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.588+1G>T	19.37:g.56703218C>A							p.Q196_splice	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			2	588	-									Splice_Site	SNP	ENST00000586855.2	37	c.588_splice	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481779	0.26598	.	.	ENSG00000197213	ENST00000358992	.	.	.	1.9	1.9	0.25705	.	.	.	.	.	.	.	.	.	.	.	0.41216	D	0.98647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3712	0.26802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZSCAN5B	61395030	0.839000	0.29477	0.266000	0.24541	0.393000	0.30537	1.418000	0.34782	1.391000	0.46566	0.306000	0.20318	.		0.607	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	Intron	12	31	1	0	1.57e-10	1.98e-10	12	31				
ZNF835	90485	broad.mit.edu	37	19	57176560	57176560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr19:57176560C>A	ENST00000537055.2	-	2	238	c.7G>T	c.(7-9)Gga>Tga	p.G3*		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTCAAGAGTCCCTCCATCCTC	0.498																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(73-75)GGA>TGA		zinc finger protein 835							61.0	62.0	61.0					19																	57176560		1952	4141	6093	SO:0001587	stop_gained	90485							g.chr19:57176560C>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.7G>T	19.37:g.57176560C>A	ENSP00000444747:p.Gly3*					ZNF835_uc010ygn.1_Nonsense_Mutation_p.G3*	p.G25*	NM_001005850	NP_001005850					2	73	-								B7Z5Y0|G3V1S0	Nonsense_Mutation	SNP	ENST00000537055.2	37	c.73G>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334719	0.81801	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	.	.	.	2.28	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	0.9895	0.01454	0.2332:0.3861:0.2288:0.1519	.	.	.	.	X	25;3	.	ENSP00000341756:G25X	G	-	1	0	ZNF835	61868372	0.000000	0.05858	0.000000	0.03702	0.519000	0.34347	-0.175000	0.09825	-0.233000	0.09797	0.561000	0.74099	GGA		0.498	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		16	57	1	0	2.35e-11	2.99e-11	16	57				
KIDINS220	57498	broad.mit.edu	37	2	8871438	8871438	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:8871438C>G	ENST00000256707.3	-	30	4909	c.4728G>C	c.(4726-4728)gcG>gcC	p.A1576A	KIDINS220_ENST00000427284.1_Silent_p.A1557A|KIDINS220_ENST00000473731.1_Silent_p.A1557A|KIDINS220_ENST00000418530.1_Silent_p.A1477A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1576					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCAAGGAGCGCATCCGATA	0.478																																						uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4726-4728)GCG>GCC		kinase D-interacting substrate of 220 kDa							130.0	126.0	127.0					2																	8871438		1978	4173	6151	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871438C>G	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4728G>C	2.37:g.8871438C>G						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.A1477A|KIDINS220_uc002qzb.2_Silent_p.A430A	p.A1576A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	4910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1576			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.4728G>C	CCDS42650.1																																																																																				0.478	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		40	89	0	0	0	0	40	89				
APOB	338	broad.mit.edu	37	2	21230877	21230877	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:21230877T>C	ENST00000233242.1	-	26	8990	c.8863A>G	c.(8863-8865)Act>Gct	p.T2955A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2955					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAAGGAAGTGAGGGGTCCT	0.413																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8863-8865)ACT>GCT		apolipoprotein B precursor	Atorvastatin(DB01076)						146.0	148.0	147.0					2																	21230877		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230877T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8863A>G	2.37:g.21230877T>C	ENSP00000233242:p.Thr2955Ala						p.T2955A	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8991	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2955					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8863A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.052511	0.00394	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00638	6.04	5.74	-7.28	0.01456	.	0.821045	0.11023	N	0.608125	T	0.00328	0.0010	N	0.13098	0.295	0.27955	N	0.93699	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	10	0.06365	T	0.9	.	4.748	0.13047	0.2556:0.4873:0.0855:0.1717	.	2955	P04114	APOB_HUMAN	A	2955	ENSP00000233242:T2955A	ENSP00000233242:T2955A	T	-	1	0	APOB	21084382	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-0.493000	0.06459	-1.113000	0.02981	0.459000	0.35465	ACT		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			79	178	0	0	0	0	79	178				
ATAD2B	54454	broad.mit.edu	37	2	23977593	23977593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:23977593G>A	ENST00000238789.5	-	26	4473	c.4130C>T	c.(4129-4131)aCg>aTg	p.T1377M	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1377						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCTTGTCGTTTTTGCCTG	0.383																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(4129-4131)ACG>ATG		ATPase family, AAA domain containing 2B							91.0	94.0	93.0					2																	23977593		1831	4075	5906	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23977593G>A	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4130C>T	2.37:g.23977593G>A	ENSP00000238789:p.Thr1377Met					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.T617M|ATAD2B_uc002rej.3_Missense_Mutation_p.T545M	p.T1377M	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			26	4424	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1377					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.4130C>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.11|10.11	1.259345|1.259345	0.23051|0.23051	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91631	.|-2.88	5.39|5.39	3.47|3.47	0.39725|0.39725	.|.	.|0.831897	.|0.10602	.|N	.|0.655560	.|D	.|0.84759	.|0.5543	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13145	.|0.004;0.007	.|B;B	.|0.08055	.|0.001;0.003	.|T	.|0.74284	.|-0.3715	.|10	.|0.45353	.|T	.|0.12	.|.	6.6556|6.6556	0.22986|0.22986	0.1634:0.149:0.6876:0.0|0.1634:0.149:0.6876:0.0	.|.	.|1377;1372	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	X|M	653|1377;545	.|ENSP00000238789:T1377M	.|ENSP00000238789:T1377M	R|T	-|-	1|2	2|0	ATAD2B|ATAD2B	23831097|23831097	0.823000|0.823000	0.29233|0.29233	0.568000|0.568000	0.28447|0.28447	0.749000|0.749000	0.42624|0.42624	1.369000|1.369000	0.34227|0.34227	1.433000|1.433000	0.47394|0.47394	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.383	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		32	57	0	0	0	0	32	57				
EHD3	30845	broad.mit.edu	37	2	31489393	31489393	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:31489393C>T	ENST00000322054.5	+	6	1716	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	477	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAAGCTGCCCAACAGTGTGC	0.552																																						uc002rnu.2		NA																	0				skin(2)	2						c.(1429-1431)CCC>CCT		EH-domain containing 3							109.0	93.0	98.0					2																	31489393		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489393C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1431C>T	2.37:g.31489393C>T						EHD3_uc010ymt.1_3'UTR	p.P477P	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			6	2039	+	Acute lymphoblastic leukemia(172;0.155)		477			EH.|EF-hand.		B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.1431C>T	CCDS1774.1																																																																																				0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		30	67	0	0	0	0	30	67				
GTF2A1L	11036	broad.mit.edu	37	2	48874048	48874048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48874048G>A	ENST00000403751.3	+	6	882	c.845G>A	c.(844-846)aGc>aAc	p.S282N	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S986N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S986N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S986N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S248N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S986N|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S939N	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	282					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)			CTCTCCACAAGCCCTCATGGG	0.428																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2815-2817)AGC>AAC		stonin 1							71.0	69.0	69.0					2																	48874048		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48874048G>A	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.845G>A	2.37:g.48874048G>A	ENSP00000384597:p.Ser282Asn					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S986N|GTF2A1L_uc002rws.1_Missense_Mutation_p.S282N|GTF2A1L_uc010yom.1_Missense_Mutation_p.S248N|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S282N	p.S939N	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2863	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	939					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2816G>A	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.418590	0.01136	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.44881	2.92;2.87;2.92;2.92;3.1;0.91	4.69	2.89	0.33648	.	1.086140	0.07091	N	0.838713	T	0.27933	0.0688	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;P;B	0.35226	0.435;0.02;0.048;0.491;0.042	B;B;B;B;B	0.31495	0.107;0.018;0.059;0.131;0.067	T	0.13899	-1.0492	10	0.05721	T	0.95	.	6.2986	0.21099	0.3007:0.0:0.6993:0.0	.	248;939;986;282;986	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	N	986;986;986;986;939;281;291;248;282	ENSP00000385499:S986N;ENSP00000385701:S986N;ENSP00000378236:S986N;ENSP00000311493:S986N;ENSP00000378234:S939N;ENSP00000396702:S291N	ENSP00000384597:S282N	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48727552	0.002000	0.14202	0.020000	0.16555	0.002000	0.02628	1.251000	0.32862	0.586000	0.29626	-0.229000	0.12294	AGC		0.428	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		23	59	0	0	0	0	23	59				
FSHR	2492	broad.mit.edu	37	2	49381449	49381449	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:49381449C>G	ENST00000406846.2	-	1	227	c.108G>C	c.(106-108)aaG>aaC	p.K36N	FSHR_ENST00000346173.3_Missense_Mutation_p.K36N|FSHR_ENST00000304421.4_Missense_Mutation_p.K36N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	36	LRRNT.				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)	TCTCTGTCACCTTGCTCTCTT	0.517									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(106-108)AAG>AAC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						75.0	76.0	76.0					2																	49381449		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.chr2:49381449C>G		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.108G>C	2.37:g.49381449C>G	ENSP00000384708:p.Lys36Asn					FSHR_uc002rwx.2_Missense_Mutation_p.K36N|FSHR_uc010fbn.2_Missense_Mutation_p.K36N|FSHR_uc010fbo.1_RNA	p.K36N	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	182	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	36			LRRNT.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.108G>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639711	0.29157	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82	5.46	2.68	0.31781	Leucine-rich repeat-containing N-terminal (2);	0.328114	0.32314	N	0.006278	D	0.92038	0.7477	M	0.63428	1.95	0.80722	D	1	B;P;B	0.41313	0.379;0.745;0.236	B;B;B	0.37047	0.24;0.149;0.1	D	0.88461	0.3055	9	.	.	.	.	7.6601	0.28398	0.0:0.7376:0.0:0.2624	.	36;36;36	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	N	36	ENSP00000384708:K36N;ENSP00000333908:K36N;ENSP00000306780:K36N;ENSP00000415504:K36N	.	K	-	3	2	FSHR	49234953	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.735000	0.26115	0.880000	0.35969	-0.140000	0.14226	AAG		0.517	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			26	62	0	0	0	0	26	62				
WDPCP	51057	broad.mit.edu	37	2	63631467	63631467	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:63631467C>T	ENST00000272321.7	-	10	1678	c.1151G>A	c.(1150-1152)aGc>aAc	p.S384N	WDPCP_ENST00000409120.1_Missense_Mutation_p.S192N|WDPCP_ENST00000409562.3_Missense_Mutation_p.S384N|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Missense_Mutation_p.S192N|WDPCP_ENST00000398544.3_Missense_Mutation_p.S225N	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	384					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TGGGTGGCAGCTTATTAATGA	0.433																																						uc002sch.2		NA																	0					0						c.(1150-1152)AGC>AAC		hypothetical protein LOC51057 isoform 2							82.0	78.0	79.0					2																	63631467		1875	4112	5987	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631467C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1151G>A	2.37:g.63631467C>T	ENSP00000272321:p.Ser384Asn					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S225N|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S192N|C2orf86_uc002sci.1_Missense_Mutation_p.S360N|C2orf86_uc010fcr.1_Missense_Mutation_p.S274N	p.S384N	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1597	-			384			WD 2.		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1151G>A	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041038	0.75732	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);	0.250262	0.45867	D	0.000336	T	0.67069	0.2854	M	0.64997	1.995	0.30039	N	0.812764	D;B;D;D	0.63880	0.981;0.145;0.975;0.993	P;B;P;P	0.59424	0.857;0.068;0.841;0.827	T	0.67341	-0.5695	10	0.62326	D	0.03	-5.639	16.5471	0.84449	0.0:0.861:0.1389:0.0	.	192;384;384;225	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	N	384;192;192;225;384	ENSP00000272321:S384N;ENSP00000386592:S192N;ENSP00000386769:S192N;ENSP00000381552:S225N;ENSP00000387222:S384N	ENSP00000272321:S384N	S	-	2	0	WDPCP	63484971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	2.807000	0.96579	0.591000	0.81541	AGC		0.433	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		50	99	0	0	0	0	50	99				
INO80B	83444	broad.mit.edu	37	2	74684871	74684871	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:74684871G>C	ENST00000233331.7	+	5	1045	c.951G>C	c.(949-951)ccG>ccC	p.P317P	WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000393972.3_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	317					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GTCCCCATCCGCGCCGCTACG	0.701																																						uc002slg.2		NA																	0				pancreas(1)	1						c.(949-951)CCG>CCC		high mobility group AT-hook 1-like 4							14.0	16.0	16.0					2																	74684871		2157	4235	6392	SO:0001819	synonymous_variant	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684871G>C	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.951G>C	2.37:g.74684871G>C						INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Silent_p.P289P|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Silent_p.P335P|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank	p.P317P	NM_031288	NP_112578	Q9C086	IN80B_HUMAN			5	996	+			317			HIT-type.			Silent	SNP	ENST00000233331.7	37	c.951G>C	CCDS1942.2																																																																																				0.701	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		17	39	0	0	0	0	17	39				
REG1A	5967	broad.mit.edu	37	2	79349244	79349245	+	Missense_Mutation	DNP	CC	CC	AA	rs3181912		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:79349244_79349245CC>AA	ENST00000233735.1	+	4	417_418	c.314_315CC>AA	c.(313-315)cCC>cAA	p.P105Q		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	105	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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						CTCCATGACCCCAAAAAGGTAG	0.49																																						uc002snz.2		NA																	0					0						c.(313-315)CCC>CAA		regenerating islet-derived 1 alpha precursor																																				SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349244_79349245CC>AA		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	Exception_encountered	2.37:g.79349244_79349245delinsAA	ENSP00000233735:p.Pro105Gln					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.P105Q	p.P105Q	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	417_418	+			105			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	DNP	ENST00000233735.1	37	c.314_315CC>AA	CCDS1964.1																																																																																				0.490	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		25	63	0	0	0	0	25	63				
LRRTM1	347730	broad.mit.edu	37	2	80530249	80530249	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530249G>T	ENST00000295057.3	-	2	1352	c.696C>A	c.(694-696)ctC>ctA	p.L232L	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L232L|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	232					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						GCAGGGAGATGAGGCGCGGGA	0.592										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(694-696)CTC>CTA		leucine rich repeat transmembrane neuronal 1							106.0	102.0	103.0					2																	80530249		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530249G>T	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.696C>A	2.37:g.80530249G>T		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.L232L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	966	-			232			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.696C>A	CCDS1966.1																																																																																				0.592	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		59	111	1	0	6.1e-20	8.53e-20	59	111				
LRRTM1	347730	broad.mit.edu	37	2	80530450	80530450	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80530450C>G	ENST00000295057.3	-	2	1151	c.495G>C	c.(493-495)acG>acC	p.T165T	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T165T|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	165					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						GCATATGCAGCGTGGTGAGCT	0.622										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(493-495)ACG>ACC		leucine rich repeat transmembrane neuronal 1							68.0	74.0	72.0					2																	80530450		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530450C>G	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.495G>C	2.37:g.80530450C>G		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.T165T	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	765	-			165			LRR 4.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.495G>C	CCDS1966.1																																																																																				0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		21	59	0	0	0	0	21	59				
CTNNA2	1496	broad.mit.edu	37	2	80816488	80816488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:80816488A>G	ENST00000402739.4	+	14	2072	c.2067A>G	c.(2065-2067)atA>atG	p.I689M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I689M|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.I368M|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.I723M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I689M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	689					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGTGGAGATATTCCATCAAG	0.493																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2065-2067)ATA>ATG		catenin, alpha 2 isoform 1							102.0	111.0	108.0					2																	80816488		2195	4299	6494	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816488A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2067A>G	2.37:g.80816488A>G	ENSP00000384638:p.Ile689Met					CTNNA2_uc010yse.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I689M|CTNNA2_uc010ysi.1_Missense_Mutation_p.I321M|CTNNA2_uc010ysj.1_Missense_Mutation_p.I18M	p.I689M	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2072	+			689					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2067A>G		.	.	.	.	.	.	.	.	.	.	A	12.75	2.030217	0.35797	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.97	-1.05	0.10036	.	0.047726	0.85682	D	0.000000	T	0.34629	0.0904	N	0.19112	0.55	0.44241	D	0.997081	B;P;B;P	0.43607	0.111;0.812;0.238;0.488	B;P;B;B	0.45558	0.246;0.485;0.269;0.353	T	0.05954	-1.0854	9	.	.	.	.	7.2352	0.26066	0.3824:0.3252:0.0:0.2925	.	321;689;689;689	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	M	689;689;723;689;689;689;368	ENSP00000418191:I689M;ENSP00000419295:I689M;ENSP00000355398:I723M;ENSP00000384638:I689M;ENSP00000444675:I689M;ENSP00000441705:I689M;ENSP00000341500:I368M	.	I	+	3	3	CTNNA2	80669999	0.944000	0.32072	1.000000	0.80357	0.998000	0.95712	0.151000	0.16283	0.141000	0.18875	0.533000	0.62120	ATA		0.493	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		22	52	0	0	0	0	22	52				
TRIM43	129868	broad.mit.edu	37	2	96260164	96260164	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:96260164G>T	ENST00000272395.2	+	2	529	c.393G>T	c.(391-393)gaG>gaT	p.E131D		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	131						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCGAAGAGGCAGCTGAGG	0.488																																						uc002suv.2		NA																	0				ovary(1)	1						c.(391-393)GAG>GAT		tripartite motif-containing 43							52.0	54.0	53.0					2																	96260164		2201	4298	6499	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260164G>T	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.393G>T	2.37:g.96260164G>T	ENSP00000272395:p.Glu131Asp						p.E131D	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			2	529	+			131			Potential.		Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.393G>T	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	7.863	0.726392	0.15439	.	.	ENSG00000144015	ENST00000272395	T	0.58210	0.35	1.22	-1.88	0.07713	.	.	.	.	.	T	0.41259	0.1151	L	0.55017	1.72	0.09310	N	1	B	0.33549	0.417	B	0.30943	0.122	T	0.21861	-1.0233	9	0.33141	T	0.24	5.7208	7.8981	0.29719	0.0:0.4843:0.5156:0.0	.	131	Q96BQ3	TRI43_HUMAN	D	131	ENSP00000272395:E131D	ENSP00000272395:E131D	E	+	3	2	TRIM43	95623891	0.196000	0.23350	0.000000	0.03702	0.201000	0.24016	0.650000	0.24858	-0.464000	0.06963	0.375000	0.23000	GAG		0.488	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		34	76	1	0	5.44e-19	7.51e-19	34	76				
ZAP70	7535	broad.mit.edu	37	2	98351166	98351166	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:98351166G>T	ENST00000264972.5	+	9	1288	c.1073G>T	c.(1072-1074)cGc>cTc	p.R358L	ZAP70_ENST00000442208.1_Missense_Mutation_p.R232L|ZAP70_ENST00000451498.2_Missense_Mutation_p.R51L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGTGTACCGCATGCGCAAG	0.637																																						uc002syd.1		NA																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(1072-1074)CGC>CTC		zeta-chain associated protein kinase 70kDa							98.0	83.0	88.0					2																	98351166		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98351166G>T	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1073G>T	2.37:g.98351166G>T	ENSP00000264972:p.Arg358Leu					ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R248L|ZAP70_uc002syf.1_Missense_Mutation_p.R51L	p.R358L	NM_001079	NP_001070	P43403	ZAP70_HUMAN			9	1280	+			358			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1073G>T	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674308	0.67928	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.82984	-1.67;-1.67;-1.67	5.41	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.224847	0.22732	N	0.056310	T	0.70833	0.3269	L	0.31926	0.97	0.42975	D	0.994446	P;P	0.40553	0.721;0.453	B;B	0.37833	0.239;0.259	T	0.70579	-0.4833	10	0.45353	T	0.12	.	5.6947	0.17849	0.2274:0.0:0.7726:0.0	.	232;358	P43403-3;P43403	.;ZAP70_HUMAN	L	358;232;51	ENSP00000264972:R358L;ENSP00000411141:R232L;ENSP00000400475:R51L	ENSP00000264972:R358L	R	+	2	0	ZAP70	97717598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.765000	0.74965	2.723000	0.93209	0.655000	0.94253	CGC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			46	44	1	0	6.31e-24	9.05e-24	46	44				
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:109547447C>A	ENST00000258443.2	-	2	454	c.24G>T	c.(22-24)acG>acT	p.T8T	EDAR_ENST00000409271.1_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627																																						uc002teq.3		NA																	0				skin(1)	1						c.(22-24)ACG>ACT		ectodysplasin A receptor precursor							84.0	82.0	82.0					2																	109547447		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109547447C>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.24G>T	2.37:g.109547447C>A						EDAR_uc010fjn.2_Silent_p.T8T|EDAR_uc010yws.1_Silent_p.T8T	p.T8T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN			2	455	-			8					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.24G>T	CCDS2081.1																																																																																				0.627	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			54	112	1	0	3.32e-32	4.85e-32	54	112				
DPP10	57628	broad.mit.edu	37	2	116599915	116599915	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:116599915T>A	ENST00000410059.1	+	26	2865	c.2385T>A	c.(2383-2385)gaT>gaA	p.D795E	DPP10_ENST00000393147.2_Missense_Mutation_p.D799E|DPP10_ENST00000310323.8_Missense_Mutation_p.D788E|DPP10_ENST00000409163.1_Missense_Mutation_p.D745E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	795						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGAAGAAGATGAATAATGGA	0.383																																						uc002tla.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(2383-2385)GAT>GAA		dipeptidyl peptidase 10 isoform long							81.0	81.0	81.0					2																	116599915		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116599915T>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2385T>A	2.37:g.116599915T>A	ENSP00000386565:p.Asp795Glu					DPP10_uc002tlb.1_Missense_Mutation_p.D745E|DPP10_uc002tlc.1_Missense_Mutation_p.D791E|DPP10_uc002tle.2_Missense_Mutation_p.D799E|DPP10_uc002tlf.1_Missense_Mutation_p.D788E	p.D795E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			26	2842	+			795			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2385T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	9.871	1.198992	0.22121	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.17691	2.28;2.28;2.28;2.26	5.93	2.34	0.29019	.	0.166821	0.52532	N	0.000080	T	0.09598	0.0236	N	0.21142	0.635	0.43032	D	0.994607	B;P;B;B	0.37636	0.008;0.603;0.004;0.004	B;B;B;B	0.32762	0.044;0.152;0.02;0.02	T	0.21999	-1.0229	10	0.39692	T	0.17	-18.9371	8.7451	0.34580	0.0:0.215:0.0:0.785	.	788;799;791;795	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	795;745;799;788	ENSP00000386565:D795E;ENSP00000387038:D745E;ENSP00000376855:D799E;ENSP00000309066:D788E	ENSP00000309066:D788E	D	+	3	2	DPP10	116316385	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.566000	0.36396	0.505000	0.28104	-0.250000	0.11733	GAT		0.383	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		31	50	0	0	0	0	31	50				
INHBB	3625	broad.mit.edu	37	2	121107382	121107382	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:121107382G>T	ENST00000295228.3	+	2	1202	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	386					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCTGTACTTCGATGATGAGTA	0.607																																						uc002tmn.2		NA																	0				pancreas(2)|skin(1)	3						c.(1156-1158)GAT>TAT		inhibin beta B subunit preproprotein							32.0	31.0	31.0					2																	121107382		2201	4297	6498	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107382G>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1156G>T	2.37:g.121107382G>T	ENSP00000295228:p.Asp386Tyr						p.D386Y	NM_002193	NP_002184	P09529	INHBB_HUMAN			2	1202	+		Prostate(154;0.122)	386					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.1156G>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787495	0.70337	.	.	ENSG00000163083	ENST00000295228	D	0.85629	-2.01	4.73	4.73	0.59995	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94262	0.8157	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95661	0.8715	10	0.87932	D	0	-9.8827	16.6172	0.84919	0.0:0.0:1.0:0.0	.	386	P09529	INHBB_HUMAN	Y	386	ENSP00000295228:D386Y	ENSP00000295228:D386Y	D	+	1	0	INHBB	120823852	1.000000	0.71417	0.679000	0.29978	0.913000	0.54294	9.569000	0.98170	2.445000	0.82738	0.462000	0.41574	GAT		0.607	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			19	51	1	0	1.56e-12	2.02e-12	19	51				
CNTNAP5	129684	broad.mit.edu	37	2	125284996	125284996	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:125284996A>G	ENST00000431078.1	+	10	1973	c.1609A>G	c.(1609-1611)Agt>Ggt	p.S537G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	537	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGGAATTTTAGTGATTTACA	0.423																																						uc002tno.2		NA																	0				ovary(10)	10						c.(1609-1611)AGT>GGT		contactin associated protein-like 5 precursor							137.0	134.0	135.0					2																	125284996		1880	4099	5979	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284996A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1609A>G	2.37:g.125284996A>G	ENSP00000399013:p.Ser537Gly					CNTNAP5_uc010flu.2_Missense_Mutation_p.S538G	p.S537G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1973	+			537			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1609A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229852	0.79688	.	.	ENSG00000155052	ENST00000431078	D	0.87966	-2.32	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.52532	D	0.000072	D	0.89945	0.6862	L	0.46157	1.445	0.50467	D	0.999875	D	0.71674	0.998	D	0.72625	0.978	D	0.86907	0.2058	10	0.15066	T	0.55	.	14.9297	0.70906	1.0:0.0:0.0:0.0	.	537	Q8WYK1	CNTP5_HUMAN	G	537	ENSP00000399013:S537G	ENSP00000399013:S537G	S	+	1	0	CNTNAP5	125001466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.653000	0.91088	2.124000	0.65301	0.528000	0.53228	AGT		0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			48	88	0	0	0	0	48	88				
LRP1B	53353	broad.mit.edu	37	2	141359046	141359046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:141359046T>C	ENST00000389484.3	-	42	7933	c.6962A>G	c.(6961-6963)cAt>cGt	p.H2321R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2321					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)		GGCTAGCACATGTGGATGGTC	0.403										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.(6961-6963)CAT>CGT		low density lipoprotein-related protein 1B							142.0	120.0	128.0					2																	141359046		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359046T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6962A>G	2.37:g.141359046T>C	ENSP00000374135:p.His2321Arg	TSP Lung(27;0.18)					p.H2321R	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)	42	7934	-		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)	2321			Extracellular (Potential).|LDL-receptor class B 24.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6962A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	5.065	0.197584	0.09652	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90133	-2.62	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	N	0.05230	-0.09	0.44295	D	0.997161	B	0.12630	0.006	B	0.11329	0.006	T	0.73665	-0.3911	10	0.02654	T	1	.	15.4224	0.75022	0.0:0.0:0.0:1.0	.	2321	Q9NZR2	LRP1B_HUMAN	R	2321;2259	ENSP00000374135:H2321R	ENSP00000374135:H2321R	H	-	2	0	LRP1B	141075516	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	3.918000	0.56432	2.099000	0.63709	0.459000	0.35465	CAT		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		15	45	0	0	0	0	15	45				
KCNJ3	3760	broad.mit.edu	37	2	155555407	155555407	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155555407G>A	ENST00000295101.2	+	1	597	c.120G>A	c.(118-120)aaG>aaA	p.K40K	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Silent_p.K40K	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	40			K -> R (in dbSNP:rs16838016).		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)	TTGTGCCCAAGAAGAAGCGGC	0.617																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(118-120)AAG>AAA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						40.0	45.0	43.0					2																	155555407		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.chr2:155555407G>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.120G>A	2.37:g.155555407G>A						KCNJ3_uc010zce.1_Silent_p.K40K	p.K40K	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	315	+			40			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.120G>A	CCDS2200.1																																																																																				0.617	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		24	44	0	0	0	0	24	44				
KCNJ3	3760	broad.mit.edu	37	2	155711434	155711434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:155711434T>A	ENST00000295101.2	+	3	1592	c.1115T>A	c.(1114-1116)aTa>aAa	p.I372K	KCNJ3_ENST00000544049.1_3'UTR|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	372					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)	TCCCCTTTAATAGCACCAGCC	0.413																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1114-1116)ATA>AAA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						94.0	99.0	97.0					2																	155711434		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711434T>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.1115T>A	2.37:g.155711434T>A	ENSP00000295101:p.Ile372Lys					KCNJ3_uc010zce.1_3'UTR	p.I372K	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1310	+			372			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1115T>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475191	0.43942	.	.	ENSG00000162989	ENST00000295101	D	0.88277	-2.36	5.7	5.7	0.88788	.	0.083276	0.85682	D	0.000000	T	0.80819	0.4696	N	0.14661	0.345	0.80722	D	1	B	0.18863	0.031	B	0.21360	0.034	T	0.75693	-0.3229	10	0.28530	T	0.3	.	15.1574	0.72755	0.0:0.0:0.0:1.0	.	372	P48549	IRK3_HUMAN	K	372	ENSP00000295101:I372K	ENSP00000295101:I372K	I	+	2	0	KCNJ3	155419680	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.040000	0.89188	2.184000	0.69523	0.528000	0.53228	ATA		0.413	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		28	88	0	0	0	0	28	88				
GALNT3	2591	broad.mit.edu	37	2	166618451	166618451	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:166618451C>A	ENST00000392701.3	-	4	1577	c.802G>T	c.(802-804)Gca>Tca	p.A268S	GALNT3_ENST00000409882.1_5'Flank	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	268	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAGCTGTTGCGACTGTTGCT	0.358																																						uc010fph.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(802-804)GCA>TCA		polypeptide N-acetylgalactosaminyltransferase 3							132.0	128.0	130.0					2																	166618451		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166618451C>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.802G>T	2.37:g.166618451C>A	ENSP00000376465:p.Ala268Ser					GALNT3_uc010fpi.1_Missense_Mutation_p.A268S	p.A268S	NM_004482	NP_004473	Q14435	GALT3_HUMAN			4	1189	-			268			Catalytic subdomain A.|Lumenal (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.802G>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654514	0.88056	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.71817	-0.6;-0.6	4.98	4.98	0.66077	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.83774	0.5327	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.84232	0.0467	10	0.46703	T	0.11	.	18.5931	0.91222	0.0:1.0:0.0:0.0	.	268	Q14435	GALT3_HUMAN	S	268	ENSP00000376465:A268S;ENSP00000412643:A268S	ENSP00000376465:A268S	A	-	1	0	GALNT3	166326697	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.741000	0.84997	2.447000	0.82792	0.591000	0.81541	GCA		0.358	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		23	66	1	0	4.54e-19	6.28e-19	23	66				
XIRP2	129446	broad.mit.edu	37	2	168101077	168101077	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168101077T>A	ENST00000409195.1	+	9	3264	c.3175T>A	c.(3175-3177)Ttt>Att	p.F1059I	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F837I|XIRP2_ENST00000295237.9_Missense_Mutation_p.F1059I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	884					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						CAAATGGTTGTTTGAAACCCA	0.318																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3175-3177)TTT>ATT		xin actin-binding repeat containing 2 isoform 1							40.0	38.0	39.0					2																	168101077		1818	4077	5895	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101077T>A	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.3175T>A	2.37:g.168101077T>A	ENSP00000386840:p.Phe1059Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F884I|XIRP2_uc010fpq.2_Missense_Mutation_p.F837I|XIRP2_uc010fpr.2_Intron	p.F1059I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3193	+			884			Xin 15.		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.3175T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.960073	0.74016	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	D;D;D	0.85411	-1.98;-1.98;-1.98	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93893	0.7181	10	0.87932	D	0	-17.5096	15.6264	0.76863	0.0:0.0:0.0:1.0	.	884;884;837	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1059;1059;837	ENSP00000386840:F1059I;ENSP00000295237:F1059I;ENSP00000387255:F837I	ENSP00000295237:F1059I	F	+	1	0	XIRP2	167809323	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.698000	0.84413	2.333000	0.79357	0.533000	0.62120	TTT		0.318	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	39	0	0	0	0	21	39				
XIRP2	129446	broad.mit.edu	37	2	168106303	168106303	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:168106303C>A	ENST00000409195.1	+	9	8490	c.8401C>A	c.(8401-8403)Ccc>Acc	p.P2801T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2579T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2801T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2626					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						CAAGATGGTTCCCAGGAAGCA	0.408																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(8401-8403)CCC>ACC		xin actin-binding repeat containing 2 isoform 1							71.0	68.0	69.0					2																	168106303		1864	4104	5968	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106303C>A	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.8401C>A	2.37:g.168106303C>A	ENSP00000386840:p.Pro2801Thr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P2626T|XIRP2_uc010fpq.2_Missense_Mutation_p.P2579T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.P147T	p.P2801T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8419	+			2626					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.8401C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.608	-0.826349	0.02734	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02345	4.33;4.33;4.33	6.17	2.92	0.33932	.	0.705550	0.14208	N	0.334225	T	0.02888	0.0086	L	0.51422	1.61	0.09310	N	1	B;B;B	0.16396	0.006;0.017;0.017	B;B;B	0.13407	0.004;0.009;0.009	T	0.47761	-0.9092	10	0.08381	T	0.77	0.5736	6.5397	0.22372	0.1223:0.5651:0.2388:0.0738	.	2626;2626;2579	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2801;2801;2579;215	ENSP00000386840:P2801T;ENSP00000295237:P2801T;ENSP00000387255:P2579T	ENSP00000295237:P2801T	P	+	1	0	XIRP2	167814549	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.116000	0.10724	0.897000	0.36392	0.655000	0.94253	CCC		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	45	1	0	1.81e-10	2.27e-10	29	45				
LRP2	4036	broad.mit.edu	37	2	170013897	170013897	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:170013897G>A	ENST00000263816.3	-	64	12288	c.12003C>T	c.(12001-12003)gaC>gaT	p.D4001D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4001	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGGAGGTTCTGTCAAAAACAT	0.383																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12001-12003)GAC>GAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						123.0	118.0	119.0					2																	170013897		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.chr2:170013897G>A		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.12003C>T	2.37:g.170013897G>A							p.D4001D	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	64	12216	-			4001			EGF-like 14.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12003C>T	CCDS2232.1																																																																																				0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	39	0	0	0	0	19	39				
SLC25A12	8604	broad.mit.edu	37	2	172669945	172669945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:172669945C>A	ENST00000422440.2	-	11	1112	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	SLC25A12_ENST00000392592.4_Missense_Mutation_p.G252C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	359					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGCCAGAGCCACGCTGGTTT	0.443																																						uc002uhh.2		NA																	0					0						c.(1075-1077)GGC>TGC		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						124.0	118.0	120.0					2																	172669945		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172669945C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1075G>T	2.37:g.172669945C>A	ENSP00000388658:p.Gly359Cys					SLC25A12_uc010fqh.2_Missense_Mutation_p.G252C	p.G359C	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1164	-			359			Solcar 1.		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1075G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.649182	0.67358	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79141	-1.24;-1.24	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.106386	0.64402	D	0.000005	T	0.79701	0.4491	L	0.52573	1.65	0.39767	D	0.972112	P;D	0.64830	0.86;0.994	P;P	0.58577	0.778;0.841	T	0.81439	-0.0932	10	0.66056	D	0.02	-8.9493	6.8071	0.23784	0.1634:0.7114:0.0:0.1252	.	252;359	B3KR64;O75746	.;CMC1_HUMAN	C	359;252	ENSP00000388658:G359C;ENSP00000376371:G252C	ENSP00000376371:G252C	G	-	1	0	SLC25A12	172378191	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.315000	0.43752	2.293000	0.77203	0.484000	0.47621	GGC		0.443	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		52	166	1	0	6.91e-35	1.02e-34	52	166				
GPR155	151556	broad.mit.edu	37	2	175333771	175333771	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:175333771T>C	ENST00000392552.2	-	5	1289	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	GPR155_ENST00000295500.4_Missense_Mutation_p.T351A|GPR155_ENST00000392551.2_Missense_Mutation_p.T351A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	351					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GACACAAATGTGCTTATCACC	0.398																																						uc002uit.2		NA																	0				ovary(1)	1						c.(1051-1053)ACA>GCA		G protein-coupled receptor 155 isoform 9							134.0	116.0	122.0					2																	175333771		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175333771T>C	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1051A>G	2.37:g.175333771T>C	ENSP00000376335:p.Thr351Ala					GPR155_uc002uiu.2_Missense_Mutation_p.T351A|GPR155_uc002uiv.2_Missense_Mutation_p.T351A|GPR155_uc010fqs.2_Missense_Mutation_p.T351A	p.T351A	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			6	1442	-			351			Helical; (Potential).		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.1051A>G	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262980	0.80358	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.64803	-0.12;-0.12;-0.12	6.07	4.89	0.63831	.	0.041323	0.85682	D	0.000000	T	0.79919	0.4529	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82047	-0.0651	10	0.62326	D	0.03	-12.96	13.4419	0.61119	0.0:0.0:0.131:0.869	.	351	Q7Z3F1	GP155_HUMAN	A	351	ENSP00000376335:T351A;ENSP00000376334:T351A;ENSP00000295500:T351A	ENSP00000295500:T351A	T	-	1	0	GPR155	175042017	1.000000	0.71417	0.994000	0.49952	0.880000	0.50808	7.698000	0.84413	1.089000	0.41292	0.528000	0.53228	ACA		0.398	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		28	79	0	0	0	0	28	79				
TTN	7273	broad.mit.edu	37	2	179462734	179462734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179462734C>A	ENST00000591111.1	-	243	52464	c.52240G>T	c.(52240-52242)Gaa>Taa	p.E17414*	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10182*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E19055*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16487*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10115*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E9990*|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17414	Fibronectin type-III 26. {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)			AATGCTCCTTCCTTTAATCCT	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.(49459-49461)GAA>TAA		titin isoform N2-A							229.0	229.0	229.0					2																	179462734		1862	4109	5971	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179462734C>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.52240G>T	2.37:g.179462734C>A	ENSP00000465570:p.Glu17414*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E10182*|TTN_uc010zfi.1_Nonsense_Mutation_p.E10115*|TTN_uc010zfj.1_Nonsense_Mutation_p.E9990*	p.E16487*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		242	49683	-			17414					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.49459G>T		.	.	.	.	.	.	.	.	.	.	C	60	49.536826	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	16487;9990;10182;10115;9988	.	ENSP00000340554:E10182X	E	-	1	0	TTN	179170979	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.928000	0.70088	2.941000	0.99782	0.655000	0.94253	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	187	1	0	4.84e-46	7.24e-46	66	187				
TTN	7273	broad.mit.edu	37	2	179578813	179578813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:179578813C>T	ENST00000591111.1	-	90	25845	c.25621G>A	c.(25621-25623)Gaa>Aaa	p.E8541K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E8858K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E7614K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12705	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)			GTACTGAGTTCAGGGGTGCCA	0.413																																						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.(22840-22842)GAA>AAA		titin isoform N2-A							104.0	94.0	98.0					2																	179578813		1864	4099	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578813C>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.25621G>A	2.37:g.179578813C>T	ENSP00000465570:p.Glu8541Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4275K	p.E7614K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23064	-			8541					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.22840G>A		.	.	.	.	.	.	.	.	.	.	C	16.69	3.193957	0.58017	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55242	0.1908	N	0.17248	0.465	0.80722	D	1	B	0.32409	0.37	B	0.30316	0.114	T	0.58651	-0.7599	9	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	8541	Q8WZ42	TITIN_HUMAN	K	7614	ENSP00000343764:E7614K	ENSP00000343764:E7614K	E	-	1	0	TTN	179287058	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	4.006000	0.57083	2.775000	0.95449	0.655000	0.94253	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	46	0	0	0	0	19	46				
COL3A1	1281	broad.mit.edu	37	2	189852852	189852852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:189852852G>T	ENST00000304636.3	+	6	744	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G192C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	192	Triple-helical region.		G -> V (in EDS4).		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)	TGGTCATCCTGGTTCCCCTGT	0.398																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(574-576)GGT>TGT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						103.0	107.0	106.0					2																	189852852		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189852852G>T	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.574G>T	2.37:g.189852852G>T	ENSP00000304408:p.Gly192Cys						p.G192C	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		6	691	+			192		G -> V (in EDS4).	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.574G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000604	0.74818	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99186	-5.53;-5.53	5.43	5.43	0.79202	.	0.000000	0.50627	D	0.000116	D	0.99638	0.9867	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97609	1.0128	10	0.87932	D	0	.	19.0366	0.92982	0.0:0.0:1.0:0.0	.	192	P02461	CO3A1_HUMAN	C	192	ENSP00000304408:G192C;ENSP00000315243:G192C	ENSP00000304408:G192C	G	+	1	0	COL3A1	189561097	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.739000	0.91574	2.830000	0.97506	0.585000	0.79938	GGT		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		39	100	1	0	4.91e-07	5.84e-07	39	100				
SLC39A10	57181	broad.mit.edu	37	2	196544871	196544871	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:196544871G>A	ENST00000409086.3	+	2	380	c.105G>A	c.(103-105)gcG>gcA	p.A35A	SLC39A10_ENST00000359634.5_Silent_p.A35A|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	35	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCCTGAAGCGCTTCACAGAC	0.368																																						uc002utg.3		NA																	0				pancreas(1)|skin(1)	2						c.(103-105)GCG>GCA		solute carrier family 39 (zinc transporter),							51.0	54.0	53.0					2																	196544871		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196544871G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.105G>A	2.37:g.196544871G>A						SLC39A10_uc002uth.3_Silent_p.A35A|SLC39A10_uc010zgp.1_Intron	p.A35A	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	319	+			35			His-rich.		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.105G>A	CCDS33353.1																																																																																				0.368	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		26	46	0	0	0	0	26	46				
HECW2	57520	broad.mit.edu	37	2	197184265	197184265	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:197184265C>A	ENST00000260983.3	-	9	1531	c.1349G>T	c.(1348-1350)aGt>aTt	p.S450I	HECW2_ENST00000409111.1_Missense_Mutation_p.S94I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	450					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTGGGAAAACTACTCCTCAG	0.498																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1348-1350)AGT>ATT		HECT, C2 and WW domain containing E3 ubiquitin							54.0	53.0	53.0					2																	197184265		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184265C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1349G>T	2.37:g.197184265C>A	ENSP00000260983:p.Ser450Ile					HECW2_uc002utl.1_Missense_Mutation_p.S94I	p.S450I	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1532	-			450					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1349G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687924	0.88639	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.53206	0.63;1.04	5.5	5.5	0.81552	.	0.413946	0.28612	N	0.014723	T	0.58736	0.2143	L	0.29908	0.895	0.58432	D	0.999994	D	0.71674	0.998	D	0.78314	0.991	T	0.58335	-0.7654	10	0.54805	T	0.06	.	17.7634	0.88470	0.0:1.0:0.0:0.0	.	450	Q9P2P5	HECW2_HUMAN	I	94;450	ENSP00000386775:S94I;ENSP00000260983:S450I	ENSP00000260983:S450I	S	-	2	0	HECW2	196892510	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.814000	0.75236	2.868000	0.98415	0.555000	0.69702	AGT		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		24	63	1	0	5.35e-11	6.76e-11	24	63				
SATB2	23314	broad.mit.edu	37	2	200173595	200173595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:200173595C>T	ENST00000417098.1	-	10	2444	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	SATB2_ENST00000428695.1_Missense_Mutation_p.R425H|SATB2_ENST00000443023.1_Missense_Mutation_p.R484H|SATB2_ENST00000260926.5_Missense_Mutation_p.R543H|SATB2_ENST00000457245.1_Missense_Mutation_p.R543H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	543					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCAGGAAGCGACGGATGGT	0.572																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1627-1629)CGC>CAC		SATB homeobox 2							156.0	123.0	134.0					2																	200173595		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173595C>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1628G>A	2.37:g.200173595C>T	ENSP00000401112:p.Arg543His					SATB2_uc010fsq.1_Missense_Mutation_p.R425H|SATB2_uc002uuz.1_Missense_Mutation_p.R543H|SATB2_uc002uva.1_Missense_Mutation_p.R543H	p.R543H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2445	-			543			CUT 2.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1628G>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793695	0.96952	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.55760	0.5;0.51;0.5;0.5;0.5	5.2	5.2	0.72013	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.052811	0.64402	D	0.000001	T	0.69242	0.3089	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.70174	-0.4944	10	0.72032	D	0.01	-15.2408	19.2916	0.94102	0.0:1.0:0.0:0.0	.	425;543	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	543;484;543;425;543	ENSP00000401112:R543H;ENSP00000388764:R484H;ENSP00000260926:R543H;ENSP00000388581:R425H;ENSP00000405420:R543H	ENSP00000260926:R543H	R	-	2	0	SATB2	199881840	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.609000	0.82925	2.861000	0.98227	0.655000	0.94253	CGC		0.572	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		5	112	0	0	0	0	5	112				
MDH1B	130752	broad.mit.edu	37	2	207621698	207621698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621698C>T	ENST00000374412.3	-	4	612	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	MDH1B_ENST00000392214.2_Missense_Mutation_p.G113R|MDH1B_ENST00000454776.2_Missense_Mutation_p.G113R|MDH1B_ENST00000449792.1_Missense_Mutation_p.G15R	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	113					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATATGTGCCCCCAGGTTCTCT	0.443																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(337-339)GGG>AGG		malate dehydrogenase 1B, NAD (soluble)							106.0	98.0	101.0					2																	207621698		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621698C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.337G>A	2.37:g.207621698C>T	ENSP00000363533:p.Gly113Arg					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.G113R|MDH1B_uc010fuj.2_Missense_Mutation_p.G15R|MDH1B_uc002vbt.2_RNA	p.G113R	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	4	392	-			113					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.337G>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	6.358	0.434076	0.12045	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776;ENST00000392214	T;T;T;T	0.58797	0.31;1.0;0.31;0.31	6.08	-1.59	0.08453	.	1.002890	0.08029	N	0.993220	T	0.35278	0.0926	N	0.14661	0.345	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.11329	0.006;0.003	T	0.19160	-1.0314	10	0.25751	T	0.34	0.3629	7.2328	0.26053	0.0:0.2188:0.3209:0.4604	.	113;113	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	R	113;15;113;113	ENSP00000363533:G113R;ENSP00000416577:G15R;ENSP00000389916:G113R;ENSP00000376049:G113R	ENSP00000363533:G113R	G	-	1	0	MDH1B	207329943	0.000000	0.05858	0.013000	0.15412	0.386000	0.30323	0.016000	0.13377	-0.272000	0.09259	-0.150000	0.13652	GGG		0.443	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		31	76	0	0	0	0	31	76				
MDH1B	130752	broad.mit.edu	37	2	207621966	207621966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:207621966C>A	ENST00000374412.3	-	3	540	c.265G>T	c.(265-267)Gct>Tct	p.A89S	MDH1B_ENST00000392214.2_Missense_Mutation_p.A89S|MDH1B_ENST00000454776.2_Missense_Mutation_p.A89S|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	89					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TATACCTGAGCATGCTCCAGG	0.363																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(265-267)GCT>TCT		malate dehydrogenase 1B, NAD (soluble)							102.0	100.0	101.0					2																	207621966		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207621966C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.265G>T	2.37:g.207621966C>A	ENSP00000363533:p.Ala89Ser					MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.A89S|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA	p.A89S	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	3	320	-			89					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.265G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489278	0.64074	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.59364	0.27;0.27;0.27	5.84	3.9	0.45041	.	0.313195	0.34435	N	0.003966	T	0.53238	0.1784	M	0.65975	2.015	0.33228	D	0.555546	P;B	0.35242	0.492;0.36	B;B	0.34489	0.184;0.09	T	0.67998	-0.5525	10	0.52906	T	0.07	-11.0347	10.8992	0.47040	0.1292:0.8026:0.0:0.0682	.	89;89	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	S	89	ENSP00000363533:A89S;ENSP00000389916:A89S;ENSP00000376049:A89S	ENSP00000363533:A89S	A	-	1	0	MDH1B	207330211	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.099000	0.41767	2.779000	0.95612	0.655000	0.94253	GCT		0.363	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		25	92	1	0	3.8e-18	5.18e-18	25	92				
VWC2L	402117	broad.mit.edu	37	2	215279018	215279018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215279018G>A	ENST00000312504.5	+	2	903	c.101G>A	c.(100-102)gGt>gAt	p.G34D	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.G34D	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	34					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						GCTGATGAAGGTGACCAGATC	0.448																																						uc002vet.2		NA																	0					0						c.(100-102)GGT>GAT		von Willebrand factor C domain-containing							106.0	108.0	107.0					2																	215279018		1974	4170	6144	SO:0001583	missense	402117					extracellular region		g.chr2:215279018G>A	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.101G>A	2.37:g.215279018G>A	ENSP00000308976:p.Gly34Asp					VWC2L_uc010zjl.1_Missense_Mutation_p.G34D	p.G34D	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			2	231	+			34					A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	c.101G>A	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269675	0.59540	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.42513	0.97;0.97	6.08	5.19	0.71726	.	0.279145	0.41001	D	0.000972	T	0.29556	0.0737	N	0.22421	0.69	0.35224	D	0.77633	B;B	0.29037	0.039;0.231	B;B	0.23574	0.047;0.027	T	0.26780	-1.0093	10	0.14252	T	0.57	-2.4187	17.3492	0.87318	0.0:0.125:0.875:0.0	.	34;34	B7ZW27;B2RUY7	.;VWC2L_HUMAN	D	34	ENSP00000308976:G34D;ENSP00000403779:G34D	ENSP00000308976:G34D	G	+	2	0	VWC2L	214987263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.424000	0.66464	1.545000	0.49373	0.655000	0.94253	GGT		0.448	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		28	55	0	0	0	0	28	55				
ABCA12	26154	broad.mit.edu	37	2	215843554	215843554	+	Missense_Mutation	SNP	C	C	T	rs28940568		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:215843554C>T	ENST00000272895.7	-	32	5170	c.4951G>A	c.(4951-4953)Ggc>Agc	p.G1651S	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1333S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1651			G -> S (in ARCI4A; dbSNP:rs28940568). {ECO:0000269|PubMed:12915478}.		cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTGAAATGCCGTAGCACCCG	0.458																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11	GRCh37	CM032169	ABCA12	M	rs28940568	c.(4951-4953)GGC>AGC		ATP-binding cassette, sub-family A, member 12							130.0	116.0	121.0					2																	215843554		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215843554C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4951G>A	2.37:g.215843554C>T	ENSP00000272895:p.Gly1651Ser					ABCA12_uc002vev.2_Missense_Mutation_p.G1333S|ABCA12_uc010zjn.1_Missense_Mutation_p.G578S	p.G1651S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	32	5171	-		Renal(323;0.127)	1651					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4951G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468903	0.96274	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.92149	-2.98;-2.98	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	D	0.94470	0.8220	L	0.39898	1.24	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94931	0.8082	9	0.87932	D	0	.	19.4492	0.94860	0.0:1.0:0.0:0.0	rs28940568	1651;1333	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	S	1651;1333	ENSP00000272895:G1651S;ENSP00000374312:G1333S	ENSP00000272895:G1651S	G	-	1	0	ABCA12	215551799	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.776000	0.85560	2.669000	0.90835	0.655000	0.94253	GGC		0.458	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		30	90	0	0	0	0	30	90				
DOCK10	55619	broad.mit.edu	37	2	225740756	225740756	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:225740756C>A	ENST00000258390.7	-	8	997	c.930G>T	c.(928-930)ctG>ctT	p.L310L	DOCK10_ENST00000409592.3_Splice_Site_p.L304L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	310					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTCTCACCCAGACCCAGAT	0.517																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(928-930)CTG>CTT		dedicator of cytokinesis 10							111.0	112.0	112.0					2																	225740756		1957	4139	6096	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225740756C>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.931+1G>T	2.37:g.225740756C>A						DOCK10_uc002vob.2_Silent_p.L304L|DOCK10_uc002vod.1_Silent_p.L310L	p.L310L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	8	1169	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	310					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.930G>T	CCDS46528.1																																																																																				0.517	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Silent	20	87	1	0	8.1e-08	9.86e-08	20	87				
NYAP2	57624	broad.mit.edu	37	2	226446802	226446802	+	Silent	SNP	G	G	A	rs371567983		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:226446802G>A	ENST00000272907.6	+	4	1082	c.669G>A	c.(667-669)ccG>ccA	p.P223P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	223					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGTCGCTGCCGCGGGACTCCT	0.582																																						uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(667-669)CCG>CCA		hypothetical protein LOC57624		G		0,3818		0,0,1909	114.0	121.0	119.0		669	-2.0	0.6	2		119	1,8225		0,1,4112	no	coding-synonymous	KIAA1486	NM_020864.1		0,1,6021	AA,AG,GG		0.0122,0.0,0.0083		223/654	226446802	1,12043	1909	4113	6022	SO:0001819	synonymous_variant	57624							g.chr2:226446802G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.669G>A	2.37:g.226446802G>A						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	p.P223P	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	844	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	223					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.669G>A	CCDS46529.1																																																																																				0.582	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		16	211	0	0	0	0	16	211				
NMUR1	10316	broad.mit.edu	37	2	232390072	232390072	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:232390072G>C	ENST00000305141.4	-	3	1096	c.963C>G	c.(961-963)agC>agG	p.S321R		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	321					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTGACACGACGCTCCACATGA	0.657																																						uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(961-963)AGC>AGG		neuromedin U receptor 1							63.0	52.0	56.0					2																	232390072		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232390072G>C	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.963C>G	2.37:g.232390072G>C	ENSP00000305877:p.Ser321Arg						p.S321R	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1073	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	321			Extracellular (Potential).		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.963C>G	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379572	0.42207	.	.	ENSG00000171596	ENST00000305141	T	0.37584	1.19	5.22	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.130215	0.64402	D	0.000001	T	0.58264	0.2110	M	0.84219	2.685	0.42587	D	0.993237	D	0.89917	1.0	D	0.97110	1.0	T	0.57728	-0.7761	10	0.48119	T	0.1	-29.956	8.4738	0.33001	0.3146:0.0:0.6854:0.0	.	321	Q9HB89	NMUR1_HUMAN	R	321	ENSP00000305877:S321R	ENSP00000305877:S321R	S	-	3	2	NMUR1	232098316	1.000000	0.71417	0.507000	0.27676	0.214000	0.24535	1.627000	0.37050	0.588000	0.29660	0.555000	0.69702	AGC		0.657	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		28	64	0	0	0	0	28	64				
ESPNL	339768	broad.mit.edu	37	2	239040038	239040038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:239040038G>C	ENST00000343063.3	+	9	2946	c.2683G>C	c.(2683-2685)Gag>Cag	p.E895Q	ESPNL_ENST00000409169.1_Missense_Mutation_p.E851Q|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.E527Q	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	895										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACGGCTGGGAGGCTGTGCG	0.687																																						uc002vxq.3		NA																	0				pancreas(1)	1						c.(2683-2685)GAG>CAG		espin-like							12.0	12.0	12.0					2																	239040038		2175	4277	6452	SO:0001583	missense	339768							g.chr2:239040038G>C	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2683G>C	2.37:g.239040038G>C	ENSP00000339115:p.Glu895Gln					ESPNL_uc010fyw.2_Missense_Mutation_p.E591Q	p.E895Q	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	2793	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	895					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2683G>C	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637013	0.87760	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.72167	-0.63;0.46;0.12	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000003	D	0.82779	0.5111	M	0.72118	2.19	0.51482	D	0.999928	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.941	D	0.85440	0.1154	10	0.87932	D	0	-19.7357	16.4759	0.84132	0.0:0.0:1.0:0.0	.	851;895	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	Q	895;851;527	ENSP00000339115:E895Q;ENSP00000386577:E851Q;ENSP00000386579:E527Q	ENSP00000339115:E895Q	E	+	1	0	ESPNL	238704777	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	7.654000	0.83653	2.176000	0.68965	0.460000	0.39030	GAG		0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		5	13	0	0	0	0	5	13				
TGM3	7053	broad.mit.edu	37	20	2308958	2308958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2308958C>T	ENST00000381458.5	+	9	1343	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	427					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AGCACCAAGGCGGTGGGCAGC	0.572																																						uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1279-1281)GCG>GTG		transglutaminase 3 precursor	L-Glutamine(DB00130)						115.0	87.0	96.0					20																	2308958		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308958C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1280C>T	20.37:g.2308958C>T	ENSP00000370867:p.Ala427Val						p.A427V	NM_003245	NP_003236	Q08188	TGM3_HUMAN			9	1377	+			427					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1280C>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140102	0.77775	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.74002	-0.8	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.83012	2.62	0.51012	D	0.999906	D	0.89917	1.0	D	0.81914	0.995	D	0.88169	0.2863	10	0.66056	D	0.02	.	16.3374	0.83068	0.0:1.0:0.0:0.0	.	427	Q08188	TGM3_HUMAN	V	427	ENSP00000370867:A427V	ENSP00000370867:A427V	A	+	2	0	TGM3	2256958	0.911000	0.30947	0.964000	0.40570	0.585000	0.36419	1.719000	0.38011	2.728000	0.93425	0.650000	0.86243	GCG		0.572	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		19	48	0	0	0	0	19	48				
TGM6	343641	broad.mit.edu	37	20	2411213	2411213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2411213G>T	ENST00000202625.2	+	11	1861	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	TGM6_ENST00000381423.1_Missense_Mutation_p.K600N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	600					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGTGGAGAAGGACATTACTC	0.512																																						uc002wfy.1		NA																	0				ovary(3)|skin(1)	4						c.(1798-1800)AAG>AAT		transglutaminase 6	L-Glutamine(DB00130)						93.0	77.0	82.0					20																	2411213		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411213G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1800G>T	20.37:g.2411213G>T	ENSP00000202625:p.Lys600Asn					TGM6_uc010gal.1_Missense_Mutation_p.K600N	p.K600N	NM_198994	NP_945345	O95932	TGM3L_HUMAN			11	1861	+			600					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1800G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414908	0.62511	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.65549	-0.16;-0.16	5.88	1.85	0.25348	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.099918	0.64402	D	0.000002	T	0.74253	0.3692	M	0.77103	2.36	0.36608	D	0.875027	D;D	0.76494	0.999;0.999	D;D	0.80764	0.993;0.994	T	0.76332	-0.2998	10	0.87932	D	0	-41.243	7.0283	0.24952	0.3483:0.0:0.6516:0.0	.	600;600	O95932-2;O95932	.;TGM3L_HUMAN	N	600	ENSP00000202625:K600N;ENSP00000370831:K600N	ENSP00000202625:K600N	K	+	3	2	TGM6	2359213	0.995000	0.38212	1.000000	0.80357	0.939000	0.58152	0.064000	0.14437	0.409000	0.25649	-0.140000	0.14226	AAG		0.512	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		22	59	1	0	0.000175454	0.000195467	22	59				
TMC2	117532	broad.mit.edu	37	20	2592857	2592857	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:2592857A>G	ENST00000358864.1	+	13	1629	c.1614A>G	c.(1612-1614)atA>atG	p.I538M	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	538					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGAGACAATAAAGAACATCA	0.502																																						uc002wgf.1		NA																	0				ovary(3)	3						c.(1612-1614)ATA>ATG		transmembrane cochlear-expressed protein 2							157.0	135.0	143.0					20																	2592857		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2592857A>G	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1614A>G	20.37:g.2592857A>G	ENSP00000351732:p.Ile538Met					TMC2_uc002wgg.1_Missense_Mutation_p.I522M|TMC2_uc010zpw.1_Missense_Mutation_p.I370M|TMC2_uc010zpx.1_Missense_Mutation_p.I369M	p.I538M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			13	1629	+			538			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1614A>G	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163440	0.57476	.	.	ENSG00000149488	ENST00000358864	T	0.66099	-0.19	5.85	3.56	0.40772	.	0.091169	0.64402	D	0.000001	T	0.64638	0.2616	L	0.39898	1.24	0.40726	D	0.982705	P;P;D;D	0.57899	0.849;0.846;0.981;0.968	P;P;D;P	0.63381	0.541;0.472;0.914;0.866	T	0.61138	-0.7123	10	0.36615	T	0.2	-13.9039	7.372	0.26806	0.7733:0.1499:0.0768:0.0	.	369;370;538;538	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	M	538	ENSP00000351732:I538M	ENSP00000351732:I538M	I	+	3	3	TMC2	2540857	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	1.242000	0.32755	0.549000	0.28973	0.533000	0.62120	ATA		0.502	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			49	153	0	0	0	0	49	153				
CDS2	8760	broad.mit.edu	37	20	5166473	5166473	+	Splice_Site	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5166473G>A	ENST00000460006.1	+	9	1135		c.e9+1		CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379062.4_Splice_Site|CDS2_ENST00000379070.3_Splice_Site	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TGGCCTTCTGGTAGGTGGTGG	0.557																																						uc002wls.2		NA																	0					0						c.e9+1		phosphatidate cytidylyltransferase 2							178.0	141.0	154.0					20																	5166473		2203	4300	6503	SO:0001630	splice_region_variant	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5166473G>A	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.828+1G>A	20.37:g.5166473G>A						CDS2_uc002wlr.1_Splice_Site_p.L198_splice|CDS2_uc010zqt.1_Splice_Site|CDS2_uc002wlu.2_Splice_Site_p.L221_splice|CDS2_uc010zqu.1_Splice_Site_p.L156_splice|CDS2_uc002wlv.2_Splice_Site_p.L178_splice|CDS2_uc010zqv.1_Splice_Site_p.L97_splice	p.L276_splice	NM_003818	NP_003809	O95674	CDS2_HUMAN			9	1085	+								B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Splice_Site	SNP	ENST00000460006.1	37	c.828_splice	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282861	0.80692	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062;ENST00000535100	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0699	0.80919	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDS2	5114473	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.657000	0.98554	2.365000	0.80145	0.462000	0.41574	.		0.557	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2		Intron	43	88	0	0	0	0	43	88				
PROKR2	128674	broad.mit.edu	37	20	5283103	5283103	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:5283103G>T	ENST00000217270.3	-	2	737	c.738C>A	c.(736-738)atC>atA	p.I246I	PROKR2_ENST00000546004.1_Silent_p.I246I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	246					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GCTCCCGGGAGATCCTGGCAT	0.587										HNSCC(71;0.22)																												uc010zqw.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(736-738)ATC>ATA		prokineticin receptor 2							80.0	75.0	77.0					20																	5283103		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283103G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.738C>A	20.37:g.5283103G>T		HNSCC(71;0.22)				PROKR2_uc010zqx.1_Silent_p.I246I|PROKR2_uc010zqy.1_Silent_p.I246I	p.I246I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	738	-			246			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.738C>A	CCDS13089.1																																																																																				0.587	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		34	66	1	0	9.18e-22	1.3e-21	34	66				
HAO1	54363	broad.mit.edu	37	20	7866414	7866414	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:7866414A>C	ENST00000378789.3	-	6	962	c.911T>G	c.(910-912)cTg>cGg	p.L304R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	304	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCCAAGAGCCAGAGCTTTCAG	0.488																																						uc002wmw.1		NA																	0				ovary(3)	3						c.(910-912)CTG>CGG		hydroxyacid oxidase 1							131.0	131.0	131.0					20																	7866414		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7866414A>C	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.911T>G	20.37:g.7866414A>C	ENSP00000368066:p.Leu304Arg					HAO1_uc010gbu.2_Missense_Mutation_p.L304R	p.L304R	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			6	935	-			304			FMN hydroxy acid dehydrogenase.|FMN (By similarity).		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.911T>G	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637041	0.87760	.	.	ENSG00000101323	ENST00000378789	T	0.43688	0.94	5.94	5.94	0.96194	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.065103	0.64402	D	0.000006	T	0.70868	0.3273	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76650	-0.2881	10	0.66056	D	0.02	-15.5934	16.3891	0.83525	1.0:0.0:0.0:0.0	.	304;304	A8K058;Q9UJM8	.;HAOX1_HUMAN	R	304	ENSP00000368066:L304R	ENSP00000368066:L304R	L	-	2	0	HAO1	7814414	0.997000	0.39634	1.000000	0.80357	0.934000	0.57294	8.923000	0.92808	2.276000	0.75962	0.397000	0.26171	CTG		0.488	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			59	146	0	0	0	0	59	146				
SEL1L2	80343	broad.mit.edu	37	20	13839934	13839934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:13839934A>G	ENST00000284951.5	-	18	1866	c.1792T>C	c.(1792-1794)Tat>Cat	p.Y598H	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	598						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						CCGTGTTCATACATATAAGCC	0.403																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1792-1794)TAT>CAT		sel-1 suppressor of lin-12-like 2 precursor							181.0	165.0	171.0					20																	13839934		2035	4189	6224	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13839934A>G	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.1792T>C	20.37:g.13839934A>G	ENSP00000284951:p.Tyr598His					SEL1L2_uc002woq.3_Missense_Mutation_p.Y459H|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	p.Y598H	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1874	-			598			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1792T>C		.	.	.	.	.	.	.	.	.	.	A	8.708	0.911457	0.17833	.	.	ENSG00000101251	ENST00000284951	T	0.61859	0.07	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.53938	D	0.000043	T	0.46983	0.1421	L	0.37897	1.145	0.45914	D	0.99875	P	0.42296	0.775	P	0.46718	0.525	T	0.50381	-0.8835	10	0.05351	T	0.99	-9.4301	8.1622	0.31204	0.9111:0.0:0.0889:0.0	.	598	Q5TEA6	SE1L2_HUMAN	H	598	ENSP00000284951:Y598H	ENSP00000284951:Y598H	Y	-	1	0	SEL1L2	13787934	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.565000	0.53798	2.100000	0.63781	0.533000	0.62120	TAT		0.403	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		27	58	0	0	0	0	27	58				
SSTR4	6754	broad.mit.edu	37	20	23017173	23017173	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017173C>A	ENST00000255008.3	+	1	1117	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	351					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCACTGCTCTCAAGAGCAAAG	0.652																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(1051-1053)CTC>CTA		somatostatin receptor 4							37.0	43.0	41.0					20																	23017173		2142	4248	6390	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017173C>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1053C>A	20.37:g.23017173C>A							p.L351L	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1117	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		351			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.1053C>A	CCDS42856.1																																																																																				0.652	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			39	59	1	0	9.46e-24	1.35e-23	39	59				
SSTR4	6754	broad.mit.edu	37	20	23017264	23017264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:23017264C>T	ENST00000255008.3	+	1	1208	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	382					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGCATCCCCCTCACCAGGAC	0.657																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	0				ovary(1)	1						c.(1144-1146)CTC>TTC		somatostatin receptor 4							35.0	41.0	39.0					20																	23017264		2069	4191	6260	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017264C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1144C>T	20.37:g.23017264C>T	ENSP00000255008:p.Leu382Phe						p.L382F	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1208	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		382			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1144C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	1.427	-0.571378	0.03882	.	.	ENSG00000132671	ENST00000255008	T	0.69040	-0.37	3.92	-0.479	0.12089	.	0.459579	0.18713	N	0.133235	T	0.37812	0.1017	N	0.08118	0	0.27058	N	0.963622	B	0.10296	0.003	B	0.12837	0.008	T	0.13980	-1.0489	10	0.35671	T	0.21	.	4.1696	0.10324	0.1518:0.4623:0.0:0.386	.	382	P31391	SSR4_HUMAN	F	382	ENSP00000255008:L382F	ENSP00000255008:L382F	L	+	1	0	SSTR4	22965264	0.000000	0.05858	0.024000	0.17045	0.108000	0.19459	0.042000	0.13949	0.008000	0.14787	-0.137000	0.14449	CTC		0.657	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			40	88	0	0	0	0	40	88				
MAPRE1	22919	broad.mit.edu	37	20	31434486	31434486	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31434486G>A	ENST00000375571.5	+	6	799	c.660G>A	c.(658-660)aaG>aaA	p.K220K	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	220	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ACTTCGGAAAGCTACGGAACA	0.423																																						uc002wyh.2		NA																	0					0						c.(658-660)AAG>AAA		microtubule-associated protein, RP/EB family,							180.0	170.0	174.0					20																	31434486		2203	4300	6503	SO:0001819	synonymous_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31434486G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.660G>A	20.37:g.31434486G>A							p.K220K	NM_012325	NP_036457	Q15691	MARE1_HUMAN			6	799	+			220			Interaction with CDK5RAP2.|EB1 C-terminal.|APC-binding.|Interaction with MTUS2/TIP150.|DCTN1-binding.		B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	c.660G>A	CCDS13208.1																																																																																				0.423	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		69	163	0	0	0	0	69	163				
BPIFB4	149954	broad.mit.edu	37	20	31685548	31685548	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:31685548C>A	ENST00000375483.3	+	11	1524	c.1524C>A	c.(1522-1524)gtC>gtA	p.V508V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	508						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGGTCATGGTCTCCCAGCCCA	0.572																																						uc010zue.1		NA																	0					0						c.(1522-1524)GTC>GTA		antimicrobial peptide RY2G5 precursor							112.0	81.0	92.0					20																	31685548		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685548C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1524C>A	20.37:g.31685548C>A							p.V508V	NM_182519	NP_872325	P59827	LPLC4_HUMAN			11	1539	+			508					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1524C>A	CCDS13213.2																																																																																				0.572	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		34	52	1	0	2.08e-15	2.78e-15	34	52				
EPB41L1	2036	broad.mit.edu	37	20	34778267	34778267	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:34778267G>T	ENST00000338074.2	+	10	1256	c.1095G>T	c.(1093-1095)aaG>aaT	p.K365N	EPB41L1_ENST00000373946.3_Missense_Mutation_p.K334N|EPB41L1_ENST00000373941.1_Missense_Mutation_p.K365N|EPB41L1_ENST00000202028.5_Missense_Mutation_p.K303N|EPB41L1_ENST00000441639.1_Missense_Mutation_p.K303N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.K268N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	365	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACTGTGGAAGGTCTGCATCG	0.542																																						uc002xfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1093-1095)AAG>AAT		erythrocyte membrane protein band 4.1-like 1							84.0	71.0	76.0					20																	34778267		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34778267G>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1095G>T	20.37:g.34778267G>T	ENSP00000337168:p.Lys365Asn					EPB41L1_uc002xeu.2_Missense_Mutation_p.K303N|EPB41L1_uc010zvo.1_Missense_Mutation_p.K365N|EPB41L1_uc002xev.2_Missense_Mutation_p.K365N|EPB41L1_uc002xew.2_Missense_Mutation_p.K268N|EPB41L1_uc002xex.2_Missense_Mutation_p.K334N|EPB41L1_uc002xey.2_Missense_Mutation_p.K292N|EPB41L1_uc002xez.2_Missense_Mutation_p.K303N	p.K365N	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			10	1266	+	Breast(12;0.0239)		365			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1095G>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655237	0.88056	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.62	5.62	0.85841	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.93419	0.7901	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.997;0.999	D	0.94592	0.7788	9	0.87932	D	0	.	18.227	0.89921	0.0:0.0:1.0:0.0	.	365;365;334;268;268;303	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	N	303;268;365;268;303;334;365;365	ENSP00000202028:K303N;ENSP00000363061:K268N;ENSP00000399214:K303N;ENSP00000363057:K334N;ENSP00000337168:K365N;ENSP00000363052:K365N	ENSP00000202028:K303N	K	+	3	2	EPB41L1	34241681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.115000	0.57865	2.625000	0.88918	0.655000	0.94253	AAG		0.542	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		9	28	1	0	0.000442599	0.000485999	9	28				
PPP1R16B	26051	broad.mit.edu	37	20	37464725	37464725	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:37464725C>A	ENST00000299824.1	+	2	346	c.157C>A	c.(157-159)Cgg>Agg	p.R53R	PPP1R16B_ENST00000373331.2_Silent_p.R53R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	53					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGCATGAGCGGAAGCGCAG	0.677																																						uc002xje.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(157-159)CGG>AGG		protein phosphatase 1 regulatory inhibitor							16.0	18.0	17.0					20																	37464725		2193	4285	6478	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37464725C>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.157C>A	20.37:g.37464725C>A						PPP1R16B_uc010ggc.2_Silent_p.R53R	p.R53R	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			2	346	+		Myeloproliferative disorder(115;0.00878)	53			Potential.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.157C>A	CCDS13309.1																																																																																				0.677	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		13	22	1	0	4.38e-07	5.23e-07	13	22				
PTPRT	11122	broad.mit.edu	37	20	41100930	41100930	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41100930G>T	ENST00000373187.1	-	8	1425	c.1426C>A	c.(1426-1428)Ctg>Atg	p.L476M	PTPRT_ENST00000373193.3_Missense_Mutation_p.L476M|PTPRT_ENST00000356100.2_Missense_Mutation_p.L476M|PTPRT_ENST00000373190.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373201.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373184.1_Missense_Mutation_p.L476M|PTPRT_ENST00000373198.4_Missense_Mutation_p.L476M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	476	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCACCACCAGCTCCTCGCTC	0.582																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1426-1428)CTG>ATG		protein tyrosine phosphatase, receptor type, T							58.0	61.0	60.0					20																	41100930		2077	4199	6276	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41100930G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1426C>A	20.37:g.41100930G>T	ENSP00000362283:p.Leu476Met					PTPRT_uc010ggj.2_Missense_Mutation_p.L476M	p.L476M	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1610	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	476			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1426C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944021	0.34283	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.28	3.31	0.37934	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.070607	0.53938	D	0.000052	T	0.50548	0.1622	L	0.29908	0.895	0.38231	D	0.941024	P;P	0.51791	0.948;0.856	P;P	0.57244	0.816;0.659	T	0.54091	-0.8345	10	0.66056	D	0.02	.	5.9393	0.19184	0.1606:0.0:0.6866:0.1528	.	476;476	O14522-1;O14522	.;PTPRT_HUMAN	M	476	ENSP00000362286:L476M;ENSP00000362283:L476M;ENSP00000362289:L476M;ENSP00000348408:L476M;ENSP00000362294:L476M;ENSP00000362280:L476M;ENSP00000362297:L476M	ENSP00000348408:L476M	L	-	1	2	PTPRT	40534344	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	1.620000	0.36976	0.597000	0.29811	0.455000	0.32223	CTG		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			43	83	1	0	5.73e-26	8.26e-26	43	83				
PTPRT	11122	broad.mit.edu	37	20	41419980	41419980	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr20:41419980C>A	ENST00000373187.1	-	3	340	c.341G>T	c.(340-342)aGg>aTg	p.R114M	PTPRT_ENST00000373193.3_Missense_Mutation_p.R114M|PTPRT_ENST00000356100.2_Missense_Mutation_p.R114M|PTPRT_ENST00000373190.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373201.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373184.1_Missense_Mutation_p.R114M|PTPRT_ENST00000373198.4_Missense_Mutation_p.R114M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	114	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R114K(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGCTGGACCTGTCACGGCT	0.602																																						uc002xkg.2		NA																	1	Substitution - Missense(1)		endometrium(1)	skin(8)|ovary(7)|lung(5)	20						c.(340-342)AGG>ATG		protein tyrosine phosphatase, receptor type, T							60.0	65.0	63.0					20																	41419980		1954	4155	6109	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41419980C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.341G>T	20.37:g.41419980C>A	ENSP00000362283:p.Arg114Met					PTPRT_uc010ggj.2_Missense_Mutation_p.R114M	p.R114M	NM_007050	NP_008981	O14522	PTPRT_HUMAN			3	525	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	114			Extracellular (Potential).|MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.341G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589598	0.86851	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.060911	0.64402	D	0.000008	T	0.05731	0.0150	N	0.22421	0.69	0.45690	D	0.9986	P;P	0.47302	0.893;0.854	P;P	0.56343	0.694;0.796	T	0.46062	-0.9218	10	0.87932	D	0	.	17.9432	0.89031	0.0:1.0:0.0:0.0	.	114;114	O14522-1;O14522	.;PTPRT_HUMAN	M	114	ENSP00000362286:R114M;ENSP00000362283:R114M;ENSP00000362289:R114M;ENSP00000348408:R114M;ENSP00000362294:R114M;ENSP00000362280:R114M;ENSP00000362297:R114M	ENSP00000348408:R114M	R	-	2	0	PTPRT	40853394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.805000	0.69143	2.676000	0.91093	0.561000	0.74099	AGG		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			27	69	1	0	9.78e-22	1.38e-21	27	69				
NCAM2	4685	broad.mit.edu	37	21	22849700	22849700	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:22849700A>G	ENST00000400546.1	+	15	2234	c.1985A>G	c.(1984-1986)tAt>tGt	p.Y662C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y520C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	662	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.			YEVQIT -> MKFRLP (in Ref. 1; AAB80803). {ECO:0000305}.	axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ACCATGGGGTATGAAGTTCAG	0.403																																						uc002yld.1		NA																	0				ovary(4)	4						c.(1984-1986)TAT>TGT		neural cell adhesion molecule 2 precursor							94.0	88.0	90.0					21																	22849700		1866	4114	5980	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849700A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1985A>G	21.37:g.22849700A>G	ENSP00000383392:p.Tyr662Cys					NCAM2_uc011acb.1_Missense_Mutation_p.Y520C	p.Y662C	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2234	+		Lung NSC(9;0.195)	662	YEVQIT -> MKFRLP (in Ref. 1; AAB80803).		Fibronectin type-III 2.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1985A>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053811	0.75960	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	D;D	0.89343	-2.5;-2.5	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94581	0.7779	10	0.87932	D	0	-17.8728	14.9715	0.71238	1.0:0.0:0.0:0.0	.	520;662	B7Z5K2;O15394	.;NCAM2_HUMAN	C	662;520	ENSP00000383392:Y662C;ENSP00000284894:Y520C	ENSP00000284894:Y520C	Y	+	2	0	NCAM2	21771571	1.000000	0.71417	0.898000	0.35279	0.995000	0.86356	8.251000	0.89838	2.213000	0.71641	0.528000	0.53228	TAT		0.403	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		34	49	0	0	0	0	34	49				
ADAMTS5	11096	broad.mit.edu	37	21	28306893	28306893	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:28306893C>A	ENST00000284987.5	-	4	1702	c.1581G>T	c.(1579-1581)atG>atT	p.M527I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	527	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCAGACAGACCATCTGGCCCT	0.572																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1579-1581)ATG>ATT		ADAM metallopeptidase with thrombospondin type 1							99.0	83.0	89.0					21																	28306893		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28306893C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1581G>T	21.37:g.28306893C>A	ENSP00000284987:p.Met527Ile						p.M527I	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			4	2310	-			527			Disintegrin.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1581G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083619	0.55861	.	.	ENSG00000154736	ENST00000284987	T	0.61627	0.09	5.68	5.68	0.88126	.	0.037801	0.85682	D	0.000000	T	0.50463	0.1617	L	0.38531	1.155	0.58432	D	0.999998	B	0.24186	0.099	B	0.20577	0.03	T	0.39078	-0.9631	10	0.24483	T	0.36	.	19.7912	0.96458	0.0:1.0:0.0:0.0	.	527	Q9UNA0	ATS5_HUMAN	I	527	ENSP00000284987:M527I	ENSP00000284987:M527I	M	-	3	0	ADAMTS5	27228764	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.433000	0.80362	2.694000	0.91930	0.557000	0.71058	ATG		0.572	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			35	73	1	0	1.27e-14	1.67e-14	35	73				
BACH1	571	broad.mit.edu	37	21	30693704	30693704	+	Missense_Mutation	SNP	G	G	T	rs529204942		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:30693704G>T	ENST00000399921.1	+	2	346	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	BACH1_ENST00000286800.3_Missense_Mutation_p.D35Y	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGTGCTGTGCGATGTCACCAT	0.522																																						uc002ynj.2		NA																	0				ovary(1)|liver(1)	2						c.(103-105)GAT>TAT		BTB and CNC homology 1 transcription factor							158.0	128.0	138.0					21																	30693704		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693704G>T	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.103G>T	21.37:g.30693704G>T	ENSP00000382805:p.Asp35Tyr					BACH1_uc002ynk.2_Missense_Mutation_p.D35Y|BACH1_uc002ynl.2_RNA	p.D35Y	NM_001186	NP_001177	O14867	BACH1_HUMAN			2	218	+			35			BTB.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.103G>T	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560668	0.86335	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95172	0.8291	9	.	.	.	-30.2518	19.5988	0.95551	0.0:0.0:1.0:0.0	.	35	O14867	BACH1_HUMAN	Y	35	ENSP00000286800:D35Y;ENSP00000382805:D35Y;ENSP00000400576:D35Y;ENSP00000408605:D35Y;ENSP00000392202:D35Y	.	D	+	1	0	BACH1	29615575	1.000000	0.71417	0.730000	0.30809	0.574000	0.36063	9.164000	0.94755	2.703000	0.92315	0.552000	0.68991	GAT		0.522	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		52	159	1	0	1.66e-12	2.14e-12	52	159				
KRTAP19-3	337970	broad.mit.edu	37	21	31864055	31864056	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:31864055_31864056CC>AA	ENST00000334063.4	-	1	219_220	c.220_221GG>TT	c.(220-222)GGa>TTa	p.G74L		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	74						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAATCCATATCCTCCATAGTAT	0.47																																						uc002yog.1		NA																	0					0						c.(220-222)GGA>TTA		keratin associated protein 19-3																																				SO:0001583	missense	337970					intermediate filament		g.chr21:31864055_31864056CC>AA	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.220_221delinsAA	21.37:g.31864055_31864056delinsAA	ENSP00000386376:p.Gly74Leu						p.G74L	NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN			1	220_221	-			74						Missense_Mutation	DNP	ENST00000334063.4	37	c.220_221GG>TT	CCDS13596.1																																																																																				0.470	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			68	145	0	0	0	0	68	145				
COL6A2	1292	broad.mit.edu	37	21	47537349	47537349	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr21:47537349G>A	ENST00000300527.4	+	11	1139	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	COL6A2_ENST00000310645.5_Silent_p.K345K|COL6A2_ENST00000409416.1_Silent_p.K345K|COL6A2_ENST00000397763.1_Silent_p.K345K|COL6A2_ENST00000357838.4_Silent_p.K345K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	345	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCTGCAAGGGAGACCCTG	0.672																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(1033-1035)AAG>AAA		alpha 2 type VI collagen isoform 2C2 precursor							46.0	48.0	47.0					21																	47537349		2203	4299	6502	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47537349G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1035G>A	21.37:g.47537349G>A						COL6A2_uc002zhy.1_Silent_p.K345K|COL6A2_uc002zhz.1_Silent_p.K345K|COL6A2_uc002zib.1_Intron	p.K345K	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	11	1117	+	Breast(49;0.245)		345			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.1035G>A	CCDS13728.1																																																																																				0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			15	44	0	0	0	0	15	44				
ZNF280A	129025	broad.mit.edu	37	22	22868460	22868460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22868460G>A	ENST00000302097.3	-	2	1747	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	499					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCCTGGCTGAACTGAAGTT	0.413																																						uc002zwe.2		NA																	0				ovary(1)	1						c.(1495-1497)CAG>TAG		zinc finger protein 280A							120.0	107.0	112.0					22																	22868460		2203	4300	6503	SO:0001587	stop_gained	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868460G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1495C>T	22.37:g.22868460G>A	ENSP00000302855:p.Gln499*					LOC96610_uc011aim.1_Intron	p.Q499*	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1748	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	499						Nonsense_Mutation	SNP	ENST00000302097.3	37	c.1495C>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883067	0.72410	.	.	ENSG00000169548	ENST00000302097	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.42002	D	0.990898	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.5683	11.3705	0.49697	0.0:0.0:1.0:0.0	.	.	.	.	X	499	.	ENSP00000302855:Q499X	Q	-	1	0	ZNF280A	21198460	0.306000	0.24490	0.023000	0.16930	0.004000	0.04260	1.148000	0.31614	2.372000	0.80975	0.655000	0.94253	CAG		0.413	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		47	99	0	0	0	0	47	99				
ZNF280A	129025	broad.mit.edu	37	22	22869368	22869368	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:22869368A>C	ENST00000302097.3	-	2	839	c.587T>G	c.(586-588)gTc>gGc	p.V196G	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATCTGAAGGGACCACAGCTAA	0.438																																						uc002zwe.2		NA																	0				ovary(1)	1						c.(586-588)GTC>GGC		zinc finger protein 280A							127.0	116.0	120.0					22																	22869368		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869368A>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.587T>G	22.37:g.22869368A>C	ENSP00000302855:p.Val196Gly					LOC96610_uc011aim.1_Intron	p.V196G	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	840	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	196						Missense_Mutation	SNP	ENST00000302097.3	37	c.587T>G	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	A	9.473	1.096064	0.20552	.	.	ENSG00000169548	ENST00000302097	T	0.24151	1.87	3.57	1.44	0.22558	.	.	.	.	.	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	1	B	0.33318	0.408	B	0.28916	0.096	T	0.22452	-1.0216	9	0.17832	T	0.49	1.4199	4.3315	0.11066	0.3634:0.0:0.6366:0.0	.	196	P59817	Z280A_HUMAN	G	196	ENSP00000302855:V196G	ENSP00000302855:V196G	V	-	2	0	ZNF280A	21199368	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	0.005000	0.13129	0.433000	0.26313	0.533000	0.62120	GTC		0.438	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		18	182	0	0	0	0	18	182				
TMPRSS6	164656	broad.mit.edu	37	22	37462243	37462243	+	Silent	SNP	G	G	A	rs368136786		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37462243G>A	ENST00000346753.3	-	18	2429	c.2313C>T	c.(2311-2313)ctC>ctT	p.L771L	TMPRSS6_ENST00000381792.2_Silent_p.L784L|TMPRSS6_ENST00000406856.1_Silent_p.L784L|TMPRSS6_ENST00000406725.1_Silent_p.L762L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	771	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCGGCCACTGAGTGCCTTGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18103	0.001		0.0	False		,,,				2504	0.0					uc003aqs.1		NA																	0				breast(4)|ovary(1)|skin(1)	6						c.(2311-2313)CTC>CTT		transmembrane protease, serine 6		G		0,4406		0,0,2203	27.0	27.0	27.0		2313	4.5	1.0	22		27	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMPRSS6	NM_153609.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		771/812	37462243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462243G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2313C>T	22.37:g.37462243G>A						TMPRSS6_uc003aqt.1_Silent_p.L784L	p.L771L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			18	2427	-			771			Peptidase S1.|Extracellular (Potential).		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.2313C>T	CCDS13941.1																																																																																				0.622	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		12	28	0	0	0	0	12	28				
RAC2	5880	broad.mit.edu	37	22	37627347	37627347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37627347G>T	ENST00000249071.6	-	5	493	c.372C>A	c.(370-372)gaC>gaA	p.D124E	RAC2_ENST00000405484.1_Missense_Mutation_p.D117E|RAC2_ENST00000406508.1_Missense_Mutation_p.D80E	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	124					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TCTCGATGGTGTCCTTGTCGT	0.637																																						uc003arc.2		NA																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(370-372)GAC>GAA		ras-related C3 botulinum toxin substrate 2							128.0	110.0	116.0					22																	37627347		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37627347G>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.372C>A	22.37:g.37627347G>T	ENSP00000249071:p.Asp124Glu						p.D124E	NM_002872	NP_002863	P15153	RAC2_HUMAN			5	489	-			124					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.372C>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	G	7.005	0.555563	0.13436	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	4.98	3.94	0.45596	Small GTP-binding protein domain (1);	0.142233	0.64402	D	0.000006	T	0.28532	0.0706	N	0.00642	-1.3	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	10	0.05436	T	0.98	.	10.5225	0.44927	0.0:0.1451:0.7043:0.1506	.	124	P15153	RAC2_HUMAN	E	124;80;117;124	ENSP00000249071:D124E;ENSP00000385270:D80E;ENSP00000385590:D117E;ENSP00000403778:D124E	ENSP00000249071:D124E	D	-	3	2	RAC2	35957293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.027000	0.30115	1.191000	0.43056	0.561000	0.74099	GAC		0.637	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			35	54	1	0	4.66e-17	6.32e-17	35	54				
ELFN2	114794	broad.mit.edu	37	22	37769436	37769436	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:37769436G>A	ENST00000402918.2	-	3	2924	c.2139C>T	c.(2137-2139)ccC>ccT	p.P713P	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTACAGGGCGGGAAAGCTGT	0.706																																						uc003asq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2137-2139)CCC>CCT		leucine rich repeat containing 62							26.0	27.0	26.0					22																	37769436		2197	4297	6494	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769436G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2139C>T	22.37:g.37769436G>A							p.P713P	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	2925	-	Melanoma(58;0.0574)		713			Cytoplasmic (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2139C>T	CCDS33642.1																																																																																				0.706	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		7	13	0	0	0	0	7	13				
MIEF1	54471	broad.mit.edu	37	22	39907350	39907350	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:39907350C>A	ENST00000325301.2	+	3	475	c.51C>A	c.(49-51)ggC>ggA	p.G17G	MIEF1_ENST00000404569.1_Silent_p.G17G|MIEF1_ENST00000402881.1_Silent_p.G17G	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	17					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										ATGGCATTGGCACGGCCATTG	0.587																																						uc003axx.2		NA																	0				central_nervous_system(1)	1						c.(49-51)GGC>GGA		hypothetical protein LOC54471							75.0	61.0	65.0					22																	39907350		2203	4300	6503	SO:0001819	synonymous_variant	54471					integral to membrane|mitochondrion		g.chr22:39907350C>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.51C>A	22.37:g.39907350C>A						SMCR7L_uc003axw.2_Silent_p.G17G|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	p.G17G	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN			3	549	+	Melanoma(58;0.04)		17					Q7L890|Q9BUI3	Silent	SNP	ENST00000325301.2	37	c.51C>A	CCDS13995.1																																																																																				0.587	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		13	39	1	0	2.62e-11	3.33e-11	13	39				
CELSR1	9620	broad.mit.edu	37	22	46930098	46930098	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:46930098C>A	ENST00000262738.3	-	1	2969	c.2970G>T	c.(2968-2970)ttG>ttT	p.L990F	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.L990F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	990	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)		CATTAATGTCCAAGATGGTCA	0.547																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(2968-2970)TTG>TTT		cadherin EGF LAG seven-pass G-type receptor 1							96.0	96.0	96.0					22																	46930098		2202	4300	6502	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.chr22:46930098C>A	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.2970G>T	22.37:g.46930098C>A	ENSP00000262738:p.Leu990Phe						p.L990F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2970	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	990			Extracellular (Potential).|Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2970G>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.15|14.15	2.449389|2.449389	0.43531|0.43531	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.56444|.	0.46;0.46|.	4.42|4.42	2.35|2.35	0.29111|0.29111	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	0.116899|.	0.34411|.	U|.	0.003991|.	T|T	0.69878|0.69878	0.3160|0.3160	M|M	0.87971|0.87971	2.92|2.92	0.34325|0.34325	D|D	0.687011|0.687011	D|.	0.63880|.	0.993|.	D|.	0.72625|.	0.978|.	T|T	0.75983|0.75983	-0.3125|-0.3125	10|5	0.66056|.	D|.	0.02|.	.|.	7.7427|7.7427	0.28851|0.28851	0.0:0.7404:0.0:0.2596|0.0:0.7404:0.0:0.2596	.|.	990|.	Q9NYQ6|.	CELR1_HUMAN|.	F|L	990|365	ENSP00000262738:L990F;ENSP00000379293:L990F|.	ENSP00000262738:L990F|.	L|W	-|-	3|2	2|0	CELSR1|CELSR1	45308762|45308762	0.409000|0.409000	0.25368|0.25368	0.892000|0.892000	0.35008|0.35008	0.397000|0.397000	0.30659|0.30659	-0.035000|-0.035000	0.12205|0.12205	0.513000|0.513000	0.28278|0.28278	0.462000|0.462000	0.41574|0.41574	TTG|TGG		0.547	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		46	90	1	0	8.05e-23	1.15e-22	46	90				
ZBED4	9889	broad.mit.edu	37	22	50279075	50279075	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50279075G>T	ENST00000216268.5	+	2	2242	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	589						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CATCAGCCGGGGGAAGAAGCC	0.517																																						uc003bix.2		NA																	0				ovary(2)	2						c.(1765-1767)GGG>TGG		zinc finger, BED-type containing 4							53.0	60.0	58.0					22																	50279075		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279075G>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1765G>T	22.37:g.50279075G>T	ENSP00000216268:p.Gly589Trp						p.G589W	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2235	+		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)	589			BED-type 4.		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1765G>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972915	0.53614	.	.	ENSG00000100426	ENST00000216268	T	0.51325	0.71	5.37	4.36	0.52297	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67158	-0.5741	10	0.87932	D	0	-42.191	14.2177	0.65805	0.0723:0.0:0.9277:0.0	.	589	O75132	ZBED4_HUMAN	W	589	ENSP00000216268:G589W	ENSP00000216268:G589W	G	+	1	0	ZBED4	48665079	1.000000	0.71417	0.945000	0.38365	0.287000	0.27160	9.226000	0.95229	1.267000	0.44247	-0.150000	0.13652	GGG		0.517	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		38	75	1	0	2.45e-15	3.26e-15	38	75				
SHANK3	85358	broad.mit.edu	37	22	51143509	51143509	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:51143509G>T	ENST00000414786.2	+	16	2199	c.1972G>T	c.(1972-1974)Ggg>Tgg	p.G658W	SHANK3_ENST00000445220.2_Missense_Mutation_p.G673W|SHANK3_ENST00000262795.3_Missense_Mutation_p.G688W			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	672	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGAAGAGGACGGGGCTCGGCG	0.587																																						uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(2062-2064)GGG>TGG		SH3 and multiple ankyrin repeat domains 3							76.0	88.0	84.0					22																	51143509		2152	4252	6404	SO:0001583	missense	85358							g.chr22:51143509G>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1972G>T	22.37:g.51143509G>T	ENSP00000464552:p.Gly658Trp					SHANK3_uc003bnf.1_Missense_Mutation_p.G143W	p.G688W	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	17	2062	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	688					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.2062G>T		.	.	.	.	.	.	.	.	.	.	G	17.43	3.386868	0.61956	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.41400	1.0;1.03	4.43	2.28	0.28536	.	.	.	.	.	T	0.44685	0.1305	L	0.34521	1.04	0.24675	N	0.993397	D;D	0.71674	0.989;0.998	P;P	0.57425	0.755;0.82	T	0.25641	-1.0126	9	0.66056	D	0.02	.	8.7705	0.34728	0.1921:0.0:0.8079:0.0	.	673;688	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	W	688;673	ENSP00000442518:G688W;ENSP00000446078:G673W	ENSP00000442518:G688W	G	+	1	0	SHANK3	49490375	0.113000	0.22115	0.948000	0.38648	0.897000	0.52465	2.119000	0.41958	0.480000	0.27534	0.591000	0.81541	GGG		0.587	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		21	62	1	0	1.26e-06	1.5e-06	21	62				
CNTN4	152330	broad.mit.edu	37	3	3067852	3067852	+	Missense_Mutation	SNP	C	C	A	rs199513278		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:3067852C>A	ENST00000397461.1	+	14	1937	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	CNTN4_ENST00000418658.1_Missense_Mutation_p.P518Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.P518Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.P190Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.P299Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	518	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTGTTTTACCGTGCCAGGTA	0.423																																						uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1552-1554)CCG>CAG		contactin 4 isoform a precursor							190.0	160.0	170.0					3																	3067852		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3067852C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1553C>A	3.37:g.3067852C>A	ENSP00000380602:p.Pro518Gln					CNTN4_uc003bpb.1_Missense_Mutation_p.P190Q|CNTN4_uc003bpd.1_Missense_Mutation_p.P518Q|CNTN4_uc003bpe.2_Missense_Mutation_p.P190Q|CNTN4_uc003bpf.2_Missense_Mutation_p.P190Q	p.P518Q	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	14	1774	+		Ovarian(110;0.156)	518			Ig-like C2-type 6.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1553C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694205	0.48202	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	4.99	4.99	0.66335	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	0.971;0.976;1.0	P;D;D	0.85130	0.876;0.924;0.997	T	0.05599	-1.0875	10	0.09338	T	0.73	.	18.2793	0.90092	0.0:1.0:0.0:0.0	.	518;518;518	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	Q	518;518;518;299;190;190	ENSP00000396010:P518Q;ENSP00000380602:P518Q;ENSP00000413642:P518Q;ENSP00000351267:P299Q;ENSP00000380600:P190Q;ENSP00000392077:P190Q	ENSP00000351267:P299Q	P	+	2	0	CNTN4	3042852	1.000000	0.71417	0.901000	0.35422	0.423000	0.31445	5.482000	0.66833	2.301000	0.77427	0.561000	0.74099	CCG		0.423	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			22	59	1	0	7.42e-09	9.15e-09	22	59				
GALNT15	117248	broad.mit.edu	37	3	16268961	16268961	+	Missense_Mutation	SNP	G	G	T	rs373039243		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:16268961G>T	ENST00000339732.5	+	10	2377	c.1874G>T	c.(1873-1875)cGc>cTc	p.R625L	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	625	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGAAAAGCCCGCCAGCAGTGG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17725	0.0		0.0	False		,,,				2504	0.0					uc003car.3		NA																	0				breast(1)	1						c.(1873-1875)CGC>CTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							120.0	120.0	120.0					3																	16268961		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16268961G>T	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1874G>T	3.37:g.16268961G>T	ENSP00000344260:p.Arg625Leu					GALNTL2_uc003caq.3_Missense_Mutation_p.R358L|GALNTL2_uc003cas.3_Missense_Mutation_p.R155L	p.R625L	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			10	2349	+			625			Ricin B-type lectin.|Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1874G>T	CCDS33711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.519|4.519	0.096404|0.096404	0.08681|0.08681	.|.	.|.	ENSG00000131386|ENSG00000131386	ENST00000543679|ENST00000339732	.|T	.|0.30714	.|1.52	5.51|5.51	4.62|4.62	0.57501|0.57501	.|Ricin B-related lectin (1);Ricin B lectin (3);	.|.	.|.	.|.	.|.	T|T	0.17916|0.17916	0.0430|0.0430	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.14578	.|0.011	T|T	0.06481|0.06481	-1.0824|-1.0824	6|9	0.22109|0.10902	T|T	0.4|0.67	.|.	9.5718|9.5718	0.39433|0.39433	0.0942:0.0:0.9058:0.0|0.0942:0.0:0.9058:0.0	.|.	.|625	.|Q8N3T1	.|GLTL2_HUMAN	S|L	155|625	.|ENSP00000344260:R625L	ENSP00000445852:A155S|ENSP00000344260:R625L	A|R	+|+	1|2	0|0	GALNTL2|GALNTL2	16243965|16243965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.150000|0.150000	0.21749|0.21749	3.252000|3.252000	0.51461|0.51461	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.443	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		35	71	1	0	1.07e-15	1.43e-15	35	71				
STAC	6769	broad.mit.edu	37	3	36524549	36524549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:36524549G>A	ENST00000273183.3	+	3	754	c.454G>A	c.(454-456)Gat>Aat	p.D152N	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	152					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CAAGTGCACAGATGGCCTGGC	0.557																																						uc003cgh.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(454-456)GAT>AAT		SH3 and cysteine rich domain							88.0	72.0	77.0					3																	36524549		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36524549G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.454G>A	3.37:g.36524549G>A	ENSP00000273183:p.Asp152Asn					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Intron	p.D152N	NM_003149	NP_003140	Q99469	STAC_HUMAN			3	493	+			152			Phorbol-ester/DAG-type.		B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.454G>A	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255020	0.59321	.	.	ENSG00000144681	ENST00000273183;ENST00000544687	D	0.92495	-3.05	4.96	4.96	0.65561	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.202088	0.51477	D	0.000086	D	0.88797	0.6534	L	0.34521	1.04	0.80722	D	1	B	0.15930	0.015	B	0.23574	0.047	D	0.84785	0.0775	10	0.49607	T	0.09	.	17.8448	0.88727	0.0:0.0:1.0:0.0	.	152	Q99469	STAC_HUMAN	N	152;84	ENSP00000273183:D152N	ENSP00000273183:D152N	D	+	1	0	STAC	36499553	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.574000	0.67424	2.683000	0.91414	0.655000	0.94253	GAT		0.557	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		22	62	0	0	0	0	22	62				
CX3CR1	1524	broad.mit.edu	37	3	39307932	39307932	+	Silent	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:39307932A>T	ENST00000541347.1	-	2	308	c.69T>A	c.(67-69)atT>atA	p.I23I	CX3CR1_ENST00000399220.2_Silent_p.I23I|CX3CR1_ENST00000542107.1_Silent_p.I23I|CX3CR1_ENST00000358309.3_Silent_p.I55I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	23					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGATGTCCCCAATATAACAGG	0.458																																						uc003cjl.2		NA																	0				lung(3)	3						c.(67-69)ATT>ATA		chemokine (C-X3-C motif) receptor 1							82.0	80.0	81.0					3																	39307932		1959	4158	6117	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307932A>T	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.69T>A	3.37:g.39307932A>T							p.I23I	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	161	-			23			Extracellular (Potential).		A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.69T>A	CCDS43069.1																																																																																				0.458	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		15	39	0	0	0	0	15	39				
SETD2	29072	broad.mit.edu	37	3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	Inhibitor binding.|S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4807-4809)CAT>CGT		SET domain containing 2							164.0	155.0	158.0					3																	47147518		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47147518T>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4808A>G	3.37:g.47147518T>C	ENSP00000386759:p.His1603Arg					SETD2_uc003cqv.2_Missense_Mutation_p.H1592R	p.H1603R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	6	4861	-		Acute lymphoblastic leukemia(5;0.0169)	1603			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4808A>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472586	0.84640	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.80123	-1.34	5.28	5.28	0.74379	SET domain (3);	0.000000	0.56097	D	0.000031	D	0.90748	0.7096	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92440	0.5961	10	0.87932	D	0	.	15.4917	0.75611	0.0:0.0:0.0:1.0	.	1603;1603	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1603	ENSP00000386759:H1603R	ENSP00000386759:H1603R	H	-	2	0	SETD2	47122522	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.596000	0.82721	2.134000	0.65973	0.528000	0.53228	CAT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		43	142	0	0	0	0	43	142				
SLC25A20	788	broad.mit.edu	37	3	48896061	48896061	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:48896061G>C	ENST00000319017.4	-	8	920	c.722C>G	c.(721-723)cCt>cGt	p.P241R	SLC25A20_ENST00000544097.1_Missense_Mutation_p.P191R|SLC25A20_ENST00000430379.1_Missense_Mutation_p.P168R	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	241					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TTTCCCAGGAGGTGCTGTGGG	0.483																																						uc003cva.3		NA																	0					0						c.(721-723)CCT>CGT		carnitine/acylcarnitine translocase	L-Carnitine(DB00583)						90.0	87.0	88.0					3																	48896061		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48896061G>C	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.722C>G	3.37:g.48896061G>C	ENSP00000326305:p.Pro241Arg					SLC25A20_uc011bbw.1_Missense_Mutation_p.P191R|SLC25A20_uc010hkj.2_Missense_Mutation_p.P168R	p.P241R	NM_000387	NP_000378	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	8	897	-			241			Solcar 3.|Mitochondrial matrix (Potential).		B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.722C>G	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822633	0.90873	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.78126	-1.15;-1.15;-1.15	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.051505	0.85682	D	0.000000	D	0.87497	0.6192	M	0.66560	2.04	0.80722	D	1	D;D	0.76494	0.984;0.999	D;D	0.81914	0.972;0.995	D	0.87209	0.2246	10	0.54805	T	0.06	-0.3134	19.3292	0.94278	0.0:0.0:1.0:0.0	.	168;241	C9JPE1;O43772	.;MCAT_HUMAN	R	168;241;191	ENSP00000388986:P168R;ENSP00000326305:P241R;ENSP00000438731:P191R	ENSP00000326305:P241R	P	-	2	0	SLC25A20	48871065	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.595000	0.82710	2.672000	0.90937	0.650000	0.86243	CCT		0.483	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		25	107	0	0	0	0	25	107				
GMPPB	29925	broad.mit.edu	37	3	49755534	49755534	+	3'UTR	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49755534G>A	ENST00000480687.1	-	0	4850				RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.V455V|AMIGO3_ENST00000535833.1_Silent_p.V455V			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTCCAGAAAGACTACGTGCT	0.637																																						uc003cxj.2		NA																	0				pancreas(1)	1						c.(1363-1365)GTC>GTT		adhesion molecule with Ig-like domain 3							84.0	80.0	82.0					3																	49755534		2203	4299	6502	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49755534G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3651C>T	3.37:g.49755534G>A						RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.V455V	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1705	-			455			Cytoplasmic (Potential).		A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.1365C>T	CCDS2803.1																																																																																				0.637	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		39	75	0	0	0	0	39	75				
MST1R	4486	broad.mit.edu	37	3	49935550	49935550	+	Missense_Mutation	SNP	C	C	A	rs200292266		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:49935550C>A	ENST00000296474.3	-	5	1841	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G605V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	605	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGATGGGTTCCCTCAGGCAC	0.577																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(1813-1815)GGA>GTA		macrophage stimulating 1 receptor precursor							90.0	82.0	84.0					3																	49935550		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49935550C>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1814G>T	3.37:g.49935550C>A	ENSP00000296474:p.Gly605Val					MST1R_uc011bdd.1_Missense_Mutation_p.G605V|MST1R_uc011bde.1_Missense_Mutation_p.G605V|MST1R_uc011bdf.1_Missense_Mutation_p.G499V|MST1R_uc011bdc.1_5'Flank	p.G605V	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	5	2078	-			605			IPT/TIG 1.|Extracellular (Potential).		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.1814G>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177403	0.57692	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.76060	-0.99;-0.99	5.65	3.85	0.44370	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.238743	0.50627	D	0.000115	D	0.82375	0.5023	M	0.67953	2.075	0.40211	D	0.977622	D;D;D;D	0.89917	0.999;0.992;0.996;1.0	D;D;D;D	0.79784	0.974;0.948;0.965;0.993	T	0.82989	-0.0183	10	0.52906	T	0.07	-18.4352	9.8791	0.41222	0.0:0.8384:0.0:0.1616	.	499;605;605;605	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	V	605	ENSP00000296474:G605V;ENSP00000341325:G605V	ENSP00000296474:G605V	G	-	2	0	MST1R	49910554	0.008000	0.16893	0.613000	0.29037	0.760000	0.43138	0.098000	0.15189	1.399000	0.46721	0.561000	0.74099	GGA		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			26	63	1	0	1.34e-20	1.88e-20	26	63				
ERC2	26059	broad.mit.edu	37	3	56330328	56330328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:56330328G>A	ENST00000288221.6	-	3	1048	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	265						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTTGGAGCCGCCTAAAGTTC	0.542																																						uc003dhr.1		NA																	0				ovary(2)	2						c.(793-795)CGG>TGG		cytomatrix protein p110							187.0	185.0	186.0					3																	56330328		2001	4194	6195	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56330328G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.793C>T	3.37:g.56330328G>A	ENSP00000288221:p.Arg265Trp						p.R265W	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	3	1049	-			265			Potential.		Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.793C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410626	0.62399	.	.	ENSG00000187672	ENST00000288221	T	0.67171	-0.25	5.86	2.21	0.28008	.	0.047258	0.85682	D	0.000000	T	0.68778	0.3038	M	0.64997	1.995	0.40070	D	0.976005	D	0.65815	0.995	P	0.48141	0.568	T	0.75906	-0.3152	10	0.87932	D	0	-16.9047	15.0945	0.72223	0.0:0.0:0.2076:0.7924	.	265	O15083	ERC2_HUMAN	W	265	ENSP00000288221:R265W	ENSP00000288221:R265W	R	-	1	2	ERC2	56305368	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.675000	0.46875	0.706000	0.31912	0.650000	0.86243	CGG		0.542	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		57	141	0	0	0	0	57	141				
PDZRN3	23024	broad.mit.edu	37	3	73433074	73433074	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:73433074C>A	ENST00000263666.4	-	10	2757	c.2643G>T	c.(2641-2643)caG>caT	p.Q881H	PDZRN3_ENST00000466780.1_Missense_Mutation_p.Q538H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.Q598H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.Q538H|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.Q603H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	881					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCATGTAGCTCTGGTAGTGCT	0.642																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2641-2643)CAG>CAT		PDZ domain containing ring finger 3							73.0	68.0	70.0					3																	73433074		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433074C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2643G>T	3.37:g.73433074C>A	ENSP00000263666:p.Gln881His					PDZRN3_uc011bgh.1_Missense_Mutation_p.Q538H|PDZRN3_uc010hoe.1_Missense_Mutation_p.Q579H|PDZRN3_uc011bgf.1_Missense_Mutation_p.Q598H|PDZRN3_uc011bgg.1_Missense_Mutation_p.Q601H	p.Q881H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2739	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	881					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2643G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269608	0.40095	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.11277	2.79;3.46;3.36;3.36;3.47	5.4	4.51	0.55191	.	0.058357	0.64402	D	0.000001	T	0.29652	0.0740	M	0.72624	2.21	0.58432	D	0.999999	B;D;D;D	0.76494	0.272;0.974;0.999;0.997	B;P;D;D	0.64687	0.249;0.794;0.928;0.909	T	0.02676	-1.1125	10	0.33141	T	0.24	.	15.6774	0.77338	0.0:0.8623:0.1377:0.0	.	603;598;598;881	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	H	881;603;538;538;598	ENSP00000263666:Q881H;ENSP00000442026:Q603H;ENSP00000418168:Q538H;ENSP00000418484:Q538H;ENSP00000418624:Q598H	ENSP00000263666:Q881H	Q	-	3	2	PDZRN3	73515764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.308000	0.43690	1.234000	0.43709	0.655000	0.94253	CAG		0.642	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		29	69	1	0	7.65e-34	1.12e-33	29	69				
ROBO2	6092	broad.mit.edu	37	3	77147180	77147180	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:77147180A>T	ENST00000461745.1	+	2	977	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q42L|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q26L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	26					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTCTTCGCCAGGAGGACTTT	0.527																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(76-78)CAG>CTG		roundabout, axon guidance receptor, homolog 2							46.0	48.0	47.0					3																	77147180		1938	4123	6061	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147180A>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.77A>T	3.37:g.77147180A>T	ENSP00000417164:p.Gln26Leu					ROBO2_uc003dpz.2_Missense_Mutation_p.Q26L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q26L	p.Q26L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	720	+			26			Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.77A>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	2.726	-0.265472	0.05754	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.62105	0.05;0.09;0.08	5.12	5.12	0.69794	Immunoglobulin-like fold (1);	0.000000	0.37053	U	0.002278	T	0.42131	0.1189	N	0.14661	0.345	0.25397	N	0.988477	B;B;B	0.12013	0.003;0.005;0.002	B;B;B	0.10450	0.001;0.005;0.002	T	0.44236	-0.9341	9	0.06494	T	0.89	.	14.9034	0.70699	1.0:0.0:0.0:0.0	.	42;26;26	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	42;42;42;26;26	ENSP00000417335:Q42L;ENSP00000417164:Q26L;ENSP00000327536:Q26L	ENSP00000327536:Q26L	Q	+	2	0	ROBO2	77229870	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	9.335000	0.96500	1.912000	0.55364	0.533000	0.62120	CAG		0.527	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		6	14	0	0	0	0	6	14				
C3orf38	285237	broad.mit.edu	37	3	88202621	88202621	+	Splice_Site	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:88202621G>T	ENST00000318887.3	+	2	685	c.375G>T	c.(373-375)caG>caT	p.Q125H	C3orf38_ENST00000486971.1_Splice_Site_p.Q125H	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	125					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TATTTCAACAGGTAAAATAAA	0.383																																						uc003dqw.2		NA																	0					0						c.(373-375)CAG>CAT		hypothetical protein LOC285237							56.0	57.0	57.0					3																	88202621		2203	4300	6503	SO:0001630	splice_region_variant	285237				apoptosis			g.chr3:88202621G>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.375+1G>T	3.37:g.88202621G>T							p.Q125H	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	3	686	+		Lung NSC(201;0.17)	125					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.375G>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951129	0.53186	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.72	4.75	0.60458	.	0.640108	0.16595	N	0.207563	T	0.48714	0.1515	L	0.59436	1.845	0.36315	D	0.85791	B	0.15473	0.013	B	0.12837	0.008	T	0.53823	-0.8384	9	0.40728	T	0.16	-3.1067	3.6842	0.08321	0.3143:0.0:0.6857:0.0	.	125	Q5JPI3	CC038_HUMAN	H	125	.	ENSP00000322469:Q125H	Q	+	3	2	C3orf38	88285311	1.000000	0.71417	0.998000	0.56505	0.267000	0.26476	2.584000	0.46102	1.318000	0.45170	0.557000	0.71058	CAG		0.383	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824	Missense_Mutation	14	36	1	0	0.000219431	0.000244042	14	36				
DPPA4	55211	broad.mit.edu	37	3	109049520	109049520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:109049520G>T	ENST00000335658.6	-	5	584	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	177					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTCCAGGGCAGGCGGCTCCCC	0.512																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(529-531)CCT>CAT		developmental pluripotency associated 4							71.0	77.0	75.0					3																	109049520		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049520G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.530C>A	3.37:g.109049520G>T	ENSP00000335306:p.Pro177His					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.P177H	p.P177H	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	585	-			177					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.530C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829824	0.50845	.	.	ENSG00000121570	ENST00000335658	T	0.23950	1.88	3.81	3.81	0.43845	.	1.870160	0.03026	N	0.151381	T	0.47135	0.1429	L	0.50333	1.59	0.09310	N	1	D;D	0.76494	0.999;0.997	D;P	0.65573	0.936;0.841	T	0.36529	-0.9744	9	.	.	.	-1.5561	11.5075	0.50474	0.0:0.0:1.0:0.0	.	167;177	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	H	177	ENSP00000335306:P177H	.	P	-	2	0	DPPA4	110532210	0.002000	0.14202	0.032000	0.17829	0.014000	0.08584	1.225000	0.32551	2.413000	0.81919	0.563000	0.77884	CCT		0.512	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		43	105	1	0	8.21e-20	1.14e-19	43	105				
ZBTB20	26137	broad.mit.edu	37	3	114069727	114069727	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:114069727G>T	ENST00000474710.1	-	4	1376	c.1198C>A	c.(1198-1200)Cgg>Agg	p.R400R	ZBTB20_ENST00000462705.1_Silent_p.R327R|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Silent_p.R327R|ZBTB20_ENST00000481632.1_Silent_p.R327R|ZBTB20_ENST00000393785.2_Silent_p.R327R|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.R327R|ZBTB20_ENST00000357258.3_Silent_p.R327R|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	400						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(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGGCTGTCCCGCGCCGCCCCA	0.647																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(1198-1200)CGG>AGG		zinc finger and BTB domain containing 20 isoform							45.0	47.0	46.0					3																	114069727		2203	4299	6502	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069727G>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1198C>A	3.37:g.114069727G>T						ZBTB20_uc003ebj.2_Silent_p.R327R|ZBTB20_uc010hqp.2_Silent_p.R327R|ZBTB20_uc003ebk.2_Silent_p.R327R|ZBTB20_uc003ebl.2_Silent_p.R327R|ZBTB20_uc003ebm.2_Silent_p.R327R|ZBTB20_uc003ebn.2_Silent_p.R327R|uc003ebo.1_5'Flank	p.R400R	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1378	-			400					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1198C>A	CCDS54626.1																																																																																				0.647	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		35	71	1	0	3.76e-14	4.95e-14	35	71				
PLXND1	23129	broad.mit.edu	37	3	129289977	129289977	+	Missense_Mutation	SNP	C	C	T	rs200890421		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:129289977C>T	ENST00000324093.4	-	18	3684	c.3506G>A	c.(3505-3507)cGc>cAc	p.R1169H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1169H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1169					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1169H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTAGTCCAGGCGGAACCTGCT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16502	0.001		0.0	False		,,,				2504	0.0				Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)	1						c.(3505-3507)CGC>CAC		plexin D1 precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	134.0	130.0		3506	1.8	1.0	3		130	0,8600		0,0,4300	no	missense	PLXND1	NM_015103.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1169/1926	129289977	1,13005	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289977C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3506G>A	3.37:g.129289977C>T	ENSP00000317128:p.Arg1169His						p.R1169H	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			18	3606	-			1169			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3506G>A	CCDS33854.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.868	0.727547	0.15439	2.27E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35789	1.34;1.29	4.91	1.82	0.25136	.	0.827446	0.10802	N	0.632620	T	0.19046	0.0457	N	0.08118	0	0.31426	N	0.67377	B	0.10296	0.003	B	0.04013	0.001	T	0.20538	-1.0272	10	0.37606	T	0.19	.	8.6862	0.34238	0.0:0.6509:0.0:0.3491	.	1169	Q9Y4D7	PLXD1_HUMAN	H	1169	ENSP00000317128:R1169H;ENSP00000376931:R1169H	ENSP00000317128:R1169H	R	-	2	0	PLXND1	130772667	0.987000	0.35691	0.998000	0.56505	0.644000	0.38419	0.254000	0.18314	0.065000	0.16485	-0.657000	0.03884	CGC		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		63	189	0	0	0	0	63	189				
NME9	347736	broad.mit.edu	37	3	138025304	138025304	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:138025304C>A	ENST00000333911.3	-	7	506	c.479G>T	c.(478-480)tGt>tTt	p.C160F	NME9_ENST00000383180.2_Missense_Mutation_p.C99F|NME9_ENST00000484930.1_Missense_Mutation_p.C97F|NME9_ENST00000536478.1_Missense_Mutation_p.C99F|NME9_ENST00000317876.4_Missense_Mutation_p.C99F|NME9_ENST00000341790.5_Missense_Mutation_p.C97F			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	160	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GGCCAAGGTACAGGTCCTCTC	0.453																																						uc003esg.2		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(478-480)TGT>TTT		thioredoxin domain containing 6							166.0	143.0	151.0					3																	138025304		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138025304C>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.479G>T	3.37:g.138025304C>A	ENSP00000335444:p.Cys160Phe					TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.C75F|TXNDC6_uc003ese.1_Missense_Mutation_p.C99F	p.C160F	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			7	507	-			160			NDK.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.479G>T		.	.	.	.	.	.	.	.	.	.	C	11.38	1.623154	0.28889	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.062772	0.64402	D	0.000001	T	0.53610	0.1807	L	0.39514	1.22	0.37935	D	0.932134	P;P;B	0.50617	0.762;0.937;0.203	B;P;B	0.55545	0.441;0.778;0.064	T	0.53486	-0.8432	10	0.28530	T	0.3	-12.1661	9.6641	0.39974	0.0:0.9043:0.0:0.0957	.	97;160;99	Q86XW9-3;Q86XW9;Q86XW9-2	.;TXND6_HUMAN;.	F	99;99;97;97;99;160;160	ENSP00000372667:C99F;ENSP00000321929:C99F;ENSP00000419882:C97F;ENSP00000341084:C97F;ENSP00000440143:C99F;ENSP00000335444:C160F;ENSP00000419147:C160F	ENSP00000321929:C99F	C	-	2	0	TXNDC6	139507994	1.000000	0.71417	0.538000	0.28064	0.112000	0.19704	2.645000	0.46621	2.442000	0.82660	0.591000	0.81541	TGT		0.453	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		35	69	1	0	4e-26	5.77e-26	35	69				
ZIC1	7545	broad.mit.edu	37	3	147127954	147127954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:147127954G>A	ENST00000282928.4	+	1	784	c.55G>A	c.(55-57)Gcg>Acg	p.A19T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	19					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACCTTTGGCGCGTCCCGCCA	0.741																																						uc003ewe.2		NA																	0		p.A19A(1)		ovary(1)|central_nervous_system(1)	2						c.(55-57)GCG>ACG		zinc finger protein of the cerebellum 1							19.0	20.0	20.0					3																	147127954		2167	4261	6428	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147127954G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.55G>A	3.37:g.147127954G>A	ENSP00000282928:p.Ala19Thr						p.A19T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	774	+			19					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.55G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176240	0.21704	.	.	ENSG00000152977	ENST00000282928	T	0.11604	2.76	3.88	2.72	0.32119	.	0.129491	0.53938	D	0.000053	T	0.04272	0.0118	N	0.08118	0	0.31448	N	0.671058	B	0.02656	0.0	B	0.01281	0.0	T	0.23691	-1.0181	10	0.17832	T	0.49	.	5.5297	0.16976	0.1215:0.0:0.5357:0.3427	.	19	Q15915	ZIC1_HUMAN	T	19	ENSP00000282928:A19T	ENSP00000282928:A19T	A	+	1	0	ZIC1	148610644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.019000	0.49635	1.712000	0.51347	0.442000	0.29010	GCG		0.741	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	32	0	0	0	0	15	32				
SLITRK3	22865	broad.mit.edu	37	3	164907542	164907542	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:164907542G>C	ENST00000475390.1	-	2	1520	c.1077C>G	c.(1075-1077)ccC>ccG	p.P359P	SLITRK3_ENST00000241274.3_Silent_p.P359P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	359					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGAGCAATGGGAGGCTGGT	0.502										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1075-1077)CCC>CCG		slit and trk like 3 protein precursor							269.0	285.0	280.0					3																	164907542		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907542G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1077C>G	3.37:g.164907542G>C		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.P359P	p.P359P	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1521	-			359			Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1077C>G	CCDS3197.1																																																																																				0.502	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		68	188	0	0	0	0	68	188				
SLC7A14	57709	broad.mit.edu	37	3	170216503	170216503	+	Missense_Mutation	SNP	C	C	A	rs141548910		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:170216503C>A	ENST00000231706.5	-	4	1027	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	238					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGTATTTCCCATTGATGAAG	0.522																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(712-714)GGG>TGG		solute carrier family 7 (cationic amino acid		C	TRP/GLY	2,4404	4.2+/-10.8	0,2,2201	88.0	82.0	84.0		712	6.0	1.0	3	dbSNP_134	84	0,8600		0,0,4300	no	missense	SLC7A14	NM_020949.2	184	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	possibly-damaging	238/772	170216503	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216503C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.712G>T	3.37:g.170216503C>A	ENSP00000231706:p.Gly238Trp					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.G238W	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	1028	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		238					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.712G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211779	0.79240	4.54E-4	0.0	ENSG00000013293	ENST00000231706	D	0.90563	-2.69	5.99	5.99	0.97316	Amino acid permease domain (1);	0.096495	0.64402	D	0.000001	D	0.90075	0.6900	L	0.38838	1.175	0.54753	D	0.999984	D	0.56287	0.975	P	0.53722	0.733	D	0.88752	0.3251	10	0.38643	T	0.18	.	14.0585	0.64786	0.0:0.9231:0.0:0.0769	.	238	Q8TBB6	S7A14_HUMAN	W	238	ENSP00000231706:G238W	ENSP00000231706:G238W	G	-	1	0	SLC7A14	171699197	0.997000	0.39634	0.998000	0.56505	0.891000	0.51852	4.831000	0.62752	2.840000	0.97914	0.655000	0.94253	GGG		0.522	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		31	76	1	0	2.49e-23	3.55e-23	31	76				
NLGN1	22871	broad.mit.edu	37	3	173997336	173997336	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:173997336C>A	ENST00000457714.1	+	6	1974	c.1545C>A	c.(1543-1545)atC>atA	p.I515I	NLGN1_ENST00000545397.1_Silent_p.I515I|NLGN1_ENST00000401917.3_Silent_p.I555I|NLGN1_ENST00000361589.4_Silent_p.I515I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	532					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACTGGGAATCCCCATGATTG	0.443																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1543-1545)ATC>ATA		neuroligin 1							57.0	54.0	55.0					3																	173997336		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997336C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1545C>A	3.37:g.173997336C>A						NLGN1_uc010hww.1_Silent_p.I555I|NLGN1_uc003fip.1_Silent_p.I515I	p.I515I	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1968	+	Ovarian(172;0.0025)		532			Extracellular (Potential).		Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.1545C>A	CCDS3222.1																																																																																				0.443	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		27	55	1	0	5.62e-17	7.62e-17	27	55				
CLCN2	1181	broad.mit.edu	37	3	184076565	184076565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184076565C>T	ENST00000265593.4	-	3	428	c.257G>A	c.(256-258)aGg>aAg	p.R86K	CLCN2_ENST00000344937.7_Missense_Mutation_p.R86K|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Intron|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.R86K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	86					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTCACCAACCCTGGATACTAG	0.557																																						uc003foi.2		NA																	0					0						c.(256-258)AGG>AAG		chloride channel 2	Lubiprostone(DB01046)						104.0	81.0	89.0					3																	184076565		2202	4299	6501	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184076565C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.257G>A	3.37:g.184076565C>T	ENSP00000265593:p.Arg86Lys					CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R86K|CLCN2_uc011brl.1_Missense_Mutation_p.R86K|CLCN2_uc011brm.1_Intron|CLCN2_uc011brn.1_Missense_Mutation_p.R86K|POLR2H_uc003foj.1_5'Flank	p.R86K	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	381	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		86			Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.257G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	8.520	0.868542	0.17322	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000457512	D;D;D	0.92911	-3.13;-3.13;-3.13	4.47	4.47	0.54385	Chloride channel, core (2);	0.206049	0.40222	N	0.001157	T	0.81950	0.4931	N	0.17345	0.48	0.80722	D	1	B;B;B;B	0.18310	0.001;0.016;0.027;0.016	B;B;B;B	0.18871	0.002;0.015;0.023;0.015	T	0.74438	-0.3665	10	0.09590	T	0.72	-22.2066	8.9745	0.35928	0.0:0.8587:0.0:0.1413	.	86;86;86;86	B4DYE3;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	K	86	ENSP00000265593:R86K;ENSP00000345056:R86K;ENSP00000391928:R86K	ENSP00000265593:R86K	R	-	2	0	CLCN2	185559259	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.781000	0.38644	2.326000	0.78906	0.462000	0.41574	AGG		0.557	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			3	15	0	0	0	0	3	15				
XXYLT1	152002	broad.mit.edu	37	3	194947466	194947466	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:194947466C>T	ENST00000310380.6	-	2	732	c.624G>A	c.(622-624)tcG>tcA	p.S208S	XXYLT1_ENST00000429994.1_Silent_p.S62S	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	208						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GCATGGCGACCGAGAGGAAGA	0.537																																						uc003fum.3		NA																	0					0						c.(622-624)TCG>TCA		hypothetical protein LOC152002							111.0	115.0	114.0					3																	194947466		2085	4209	6294	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194947466C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.624G>A	3.37:g.194947466C>T						C3orf21_uc011bsw.1_Silent_p.S62S	p.S208S	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	2	732	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		208					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.624G>A	CCDS43188.1																																																																																				0.537	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		6	90	0	0	0	0	6	90				
POLN	353497	broad.mit.edu	37	4	2175683	2175683	+	Splice_Site	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:2175683C>G	ENST00000511885.2	-	11	1726	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	POLN_ENST00000382865.1_Splice_Site_p.G458A|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	458					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATAACTTACCCCAAGAAGTGC	0.438								DNA polymerases (catalytic subunits)																														uc003ger.2		NA																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1372-1374)GGG>GCG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							272.0	225.0	241.0					4																	2175683		2203	4300	6503	SO:0001630	splice_region_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2175683C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1374+1G>C	4.37:g.2175683C>G						POLN_uc010ich.1_Missense_Mutation_p.G49A|POLN_uc011bvi.1_Missense_Mutation_p.G458A	p.G458A	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		9	1373	-			458					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1373G>C	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.460|7.460	0.644496|0.644496	0.14451|0.14451	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|T	0.04654|0.05580	3.58;3.58|3.42	4.28|4.28	4.28|4.28	0.50868|0.50868	DNA-directed DNA polymerase, family A, palm domain (1);|.	0.186328|0.186328	0.45361|0.45361	N|D	0.000379|0.000379	T|T	0.11495|0.11495	0.0280|0.0280	L|L	0.39147|0.39147	1.195|1.195	0.45822|0.45822	D|D	0.998695|0.998695	D;D;B|.	0.76494|.	0.999;0.999;0.132|.	D;D;B|.	0.74674|.	0.984;0.933;0.16|.	T|T	0.01753|0.01753	-1.1281|-1.1281	10|8	0.13108|0.56958	T|D	0.6|0.05	-5.9081|-5.9081	12.4137|12.4137	0.55481|0.55481	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;48;458|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	A|R	458;458;149;48|92	ENSP00000435506:G458A;ENSP00000372316:G458A|ENSP00000426401:G92R	ENSP00000253313:G149A|ENSP00000426401:G92R	G|G	-|-	2|1	0|0	POLN|POLN	2145481|2145481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.267000|0.267000	0.26476|0.26476	1.654000|1.654000	0.37334|0.37334	2.400000|2.400000	0.81607|0.81607	0.563000|0.563000	0.77884|0.77884	GGG|GGG		0.438	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	Missense_Mutation	130	105	0	0	0	0	130	105				
GRXCR1	389207	broad.mit.edu	37	4	43022369	43022369	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:43022369A>T	ENST00000399770.2	+	3	627		c.e3-1			NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1						auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TCTCGTTAATAGGGTGCTGAG	0.343																																						uc003gwt.2		NA																	0				ovary(1)	1						c.e3-2		glutaredoxin, cysteine rich 1							80.0	75.0	77.0					4																	43022369		1823	4072	5895	SO:0001630	splice_region_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43022369A>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.628-1A>T	4.37:g.43022369A>T							p.G210_splice	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			3	628	+									Splice_Site	SNP	ENST00000399770.2	37	c.628_splice	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492425	0.84962	.	.	ENSG00000215203	ENST00000399770	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5521	0.76161	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRXCR1	42717126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.480000	0.90434	2.267000	0.75376	0.477000	0.44152	.		0.343	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476	Intron	38	22	0	0	0	0	38	22				
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					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)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|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)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGTTCTGTATCATAACGGAAG	0.398																																						uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(1081-1083)ATG>ATA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83.0	84.0	83.0					4																	46252598		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252598C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1083G>A	4.37:g.46252598C>T	ENSP00000421828:p.Met361Ile					GABRA2_uc010igc.2_Missense_Mutation_p.M361I|GABRA2_uc011bzc.1_Missense_Mutation_p.M366I	p.M361I	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			9	1756	-			361			Cytoplasmic (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1083G>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	1.724	-0.495958	0.04291	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.258168	0.50627	D	0.000105	T	0.61438	0.2347	N	0.00841	-1.15	0.09310	N	0.999997	B;B	0.12630	0.006;0.0	B;B	0.24006	0.05;0.0	T	0.52079	-0.8623	10	0.33940	T	0.23	.	8.1957	0.31396	0.1675:0.7545:0.0:0.078	.	366;361	B7Z1H8;P47869	.;GBRA2_HUMAN	I	361;361;361;361;366;421	ENSP00000421828:M361I;ENSP00000421300:M361I;ENSP00000371033:M361I;ENSP00000348897:M361I;ENSP00000444409:M366I;ENSP00000427603:M421I	ENSP00000348897:M361I	M	-	3	0	GABRA2	45947355	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	0.878000	0.28126	2.827000	0.97445	0.655000	0.94253	ATG		0.398	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	105	0	0	0	0	8	105				
LPHN3	23284	broad.mit.edu	37	4	62813846	62813846	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62813846G>A	ENST00000514591.1	+	16	2782	c.2453G>A	c.(2452-2454)tGt>tAt	p.C818Y	LPHN3_ENST00000506720.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.C818Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.C818Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.C886Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.C818Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	805	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AACCCTAACTGTTCATTTTGG	0.378																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2452-2454)TGT>TAT		latrophilin 3 precursor							77.0	67.0	70.0					4																	62813846		1847	4097	5944	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813846G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2453G>A	4.37:g.62813846G>A	ENSP00000422533:p.Cys818Tyr					LPHN3_uc003hcq.3_Missense_Mutation_p.C818Y|LPHN3_uc003hct.2_Missense_Mutation_p.C211Y	p.C818Y	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			14	2626	+			805			GPS.|Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2453G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739909	0.89573	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;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;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.98	5.98	0.97165	GPS domain (3);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	H	0.99286	4.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.996	D	0.98274	1.0505	10	0.87932	D	0	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	818;805;818	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Y	818;818;886;886;818;818;805;818;886;886;886;818;818;818;886;886;818	ENSP00000423388:C818Y;ENSP00000422533:C818Y;ENSP00000423787:C886Y;ENSP00000425033:C886Y;ENSP00000424120:C818Y;ENSP00000439831:C818Y;ENSP00000421476:C886Y;ENSP00000424030:C886Y;ENSP00000421372:C886Y;ENSP00000425201:C818Y;ENSP00000423434:C818Y;ENSP00000421627:C818Y;ENSP00000420931:C886Y;ENSP00000425884:C886Y;ENSP00000424258:C818Y	ENSP00000280009:C818Y	C	+	2	0	LPHN3	62496441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.865000	0.99609	2.861000	0.98227	0.650000	0.86243	TGT		0.378	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			35	21	0	0	0	0	35	21				
LPHN3	23284	broad.mit.edu	37	4	62845283	62845283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:62845283C>A	ENST00000514591.1	+	17	2933	c.2604C>A	c.(2602-2604)caC>caA	p.H868Q	LPHN3_ENST00000506720.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.H868Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.H868Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.H936Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.H868Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	855					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTCCAGCACAGTGATGCGG	0.413																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2602-2604)CAC>CAA		latrophilin 3 precursor							255.0	243.0	247.0					4																	62845283		1951	4155	6106	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845283C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2604C>A	4.37:g.62845283C>A	ENSP00000422533:p.His868Gln					LPHN3_uc003hcq.3_Missense_Mutation_p.H868Q|LPHN3_uc003hct.2_Missense_Mutation_p.H261Q	p.H868Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			15	2777	+			855			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2604C>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.942|8.942	0.965970|0.965970	0.18659|0.18659	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68903|.	-0.35;-0.35;-0.36;-0.36;-0.35;-0.35;-0.36;-0.36;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35|.	5.5|5.5	2.84|2.84	0.33178|0.33178	.|.	0.161136|.	0.56097|.	D|.	0.000035|.	T|T	0.31765|0.31765	0.0807|0.0807	N|N	0.05259|0.05259	-0.085|-0.085	0.44409|0.44409	D|D	0.997322|0.997322	P;P;B|.	0.34462|.	0.454;0.454;0.435|.	B;B;B|.	0.27500|.	0.024;0.024;0.08|.	T|T	0.04976|0.04976	-1.0914|-1.0914	10|5	0.39692|.	T|.	0.17|.	.|.	10.0388|10.0388	0.42144|0.42144	0.0:0.7199:0.0:0.2801|0.0:0.7199:0.0:0.2801	.|.	868;855;868|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	Q|K	868;868;936;936;868;868;855;868;936;936;936;868;868;868;936;936;868|326	ENSP00000423388:H868Q;ENSP00000422533:H868Q;ENSP00000423787:H936Q;ENSP00000425033:H936Q;ENSP00000424120:H868Q;ENSP00000439831:H868Q;ENSP00000421476:H936Q;ENSP00000424030:H936Q;ENSP00000421372:H936Q;ENSP00000425201:H868Q;ENSP00000423434:H868Q;ENSP00000421627:H868Q;ENSP00000420931:H936Q;ENSP00000425884:H936Q;ENSP00000424258:H868Q|.	ENSP00000280009:H868Q|.	H|Q	+|+	3|1	2|0	LPHN3|LPHN3	62527878|62527878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	1.935000|1.935000	0.40173|0.40173	0.701000|0.701000	0.31803|0.31803	0.467000|0.467000	0.42956|0.42956	CAC|CAG		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			146	86	1	0	7.33e-86	1.11e-85	146	86				
PPM1K	152926	broad.mit.edu	37	4	89199527	89199527	+	Missense_Mutation	SNP	C	C	T	rs146041562		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:89199527C>T	ENST00000608933.1	-	2	598	c.209G>A	c.(208-210)cGc>cAc	p.R70H	PPM1K_ENST00000315194.4_Missense_Mutation_p.R70H|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.R70H|PPM1K_ENST00000514204.1_Missense_Mutation_p.R70H|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	70					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CTCATCAATGCGGTTATCCCA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20976	0.001		0.0	False		,,,				2504	0.0					uc003hrm.3		NA																	0					0						c.(208-210)CGC>CAC		protein phosphatase 1K (PP2C domain containing)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	86.0	88.0		209	4.4	1.0	4	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPM1K	NM_152542.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	70/373	89199527	2,13004	2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89199527C>T	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.209G>A	4.37:g.89199527C>T	ENSP00000477341:p.Arg70His					PPM1K_uc010ikp.1_Missense_Mutation_p.R70H|PPM1K_uc003hrn.2_Missense_Mutation_p.R70H	p.R70H	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	2	599	-		Hepatocellular(203;0.114)	70					B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.209G>A	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743896	0.89663	2.27E-4	1.16E-4	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.63913	1.74;-0.07;-0.07	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.974	T	0.81180	-0.1050	10	0.87932	D	0	-14.5433	16.2792	0.82664	0.0:1.0:0.0:0.0	.	70;70;70	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	H	70	ENSP00000295908:R70H;ENSP00000424155:R70H;ENSP00000324761:R70H	ENSP00000295908:R70H	R	-	2	0	PPM1K	89418551	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.273000	0.78527	2.450000	0.82876	0.313000	0.20887	CGC		0.512	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		30	25	0	0	0	0	30	25				
CCSER1	401145	broad.mit.edu	37	4	91549260	91549260	+	Silent	SNP	G	G	T	rs369689377		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:91549260G>T	ENST00000509176.1	+	6	2097	c.1809G>T	c.(1807-1809)gcG>gcT	p.A603A	CCSER1_ENST00000432775.2_Silent_p.A603A|CCSER1_ENST00000333691.8_Silent_p.A603A	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	603																	GTCCATCTGCGGATTGGCCTC	0.443																																						uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1807-1809)GCG>GCT		KIAA1680 protein isoform 1							96.0	95.0	96.0					4																	91549260		1913	4137	6050	SO:0001819	synonymous_variant	401145							g.chr4:91549260G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1809G>T	4.37:g.91549260G>T						FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.A603A	p.A603A	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			6	2149	+			603					Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1809G>T	CCDS47099.1																																																																																				0.443	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		57	39	1	0	1.54e-20	2.15e-20	57	39				
CTSO	1519	broad.mit.edu	37	4	156860668	156860668	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:156860668C>G	ENST00000433477.3	-	4	476	c.407G>C	c.(406-408)aGc>aCc	p.S136T		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	143					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCACCACGCTGAAGGCCCA	0.438																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2		NA																	0					0						c.(406-408)AGC>ACC		cathepsin O preproprotein							101.0	107.0	105.0					4																	156860668		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156860668C>G	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.407G>C	4.37:g.156860668C>G	ENSP00000414904:p.Ser136Thr						p.S136T	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	4	456	-	all_hematologic(180;0.24)	Renal(120;0.0458)	136					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.407G>C	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264709	0.80358	.	.	ENSG00000256043	ENST00000433477	T	0.44482	0.92	5.87	5.03	0.67393	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.84846	2.72	0.54753	D	0.999989	D	0.65815	0.995	D	0.70935	0.971	T	0.75886	-0.3159	10	0.87932	D	0	.	17.1876	0.86870	0.0:0.8739:0.1261:0.0	.	136	P43234	CATO_HUMAN	T	136	ENSP00000414904:S136T	ENSP00000281527:S136T	S	-	2	0	CTSO	157080118	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	4.592000	0.61027	1.479000	0.48272	0.655000	0.94253	AGC		0.438	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		88	67	0	0	0	0	88	67				
FSTL5	56884	broad.mit.edu	37	4	162841665	162841665	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841665C>A	ENST00000306100.5	-	4	736	c.300G>T	c.(298-300)gtG>gtT	p.V100V	FSTL5_ENST00000536695.1_Silent_p.V99V|FSTL5_ENST00000427802.2_Silent_p.V99V|FSTL5_ENST00000379164.4_Silent_p.V99V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	100	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGATCCACACACAGGTTTGT	0.443																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(298-300)GTG>GTT		follistatin-like 5 isoform a							121.0	109.0	113.0					4																	162841665		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162841665C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.300G>T	4.37:g.162841665C>A						FSTL5_uc003iqi.2_Silent_p.V99V|FSTL5_uc010iqv.2_Silent_p.V99V	p.V100V	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	736	-	all_hematologic(180;0.24)		100			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.300G>T	CCDS3802.1																																																																																				0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		48	31	1	0	2.02e-29	2.93e-29	48	31				
FSTL5	56884	broad.mit.edu	37	4	162841675	162841675	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr4:162841675T>C	ENST00000306100.5	-	4	726	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	FSTL5_ENST00000536695.1_Missense_Mutation_p.Y96C|FSTL5_ENST00000427802.2_Missense_Mutation_p.Y96C|FSTL5_ENST00000379164.4_Missense_Mutation_p.Y96C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	97	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACAGGTTTGTAGTGACGTTT	0.433																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(289-291)TAC>TGC		follistatin-like 5 isoform a							118.0	106.0	110.0					4																	162841675		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162841675T>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.290A>G	4.37:g.162841675T>C	ENSP00000305334:p.Tyr97Cys					FSTL5_uc003iqi.2_Missense_Mutation_p.Y96C|FSTL5_uc010iqv.2_Missense_Mutation_p.Y96C	p.Y97C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	726	-	all_hematologic(180;0.24)		97			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.290A>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772382	0.69992	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.86	5.86	0.93980	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.064530	0.64402	D	0.000005	T	0.33556	0.0867	H	0.96489	3.83	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.997;0.997	D;P;P	0.65323	0.934;0.846;0.87	T	0.44711	-0.9310	10	0.72032	D	0.01	.	10.9081	0.47092	0.1399:0.0:0.0:0.8601	.	96;96;97	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	C	97;96;96;96	ENSP00000305334:Y97C;ENSP00000368462:Y96C;ENSP00000389270:Y96C;ENSP00000440409:Y96C	ENSP00000305334:Y97C	Y	-	2	0	FSTL5	163061125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.755000	0.55197	2.367000	0.80283	0.528000	0.53228	TAC		0.433	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		49	30	0	0	0	0	49	30				
ADCY2	108	broad.mit.edu	37	5	7706876	7706876	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7706876G>A	ENST00000338316.4	+	8	1218	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	ADCY2_ENST00000537121.1_Missense_Mutation_p.G197R|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	377					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGATGCTACTGGAGTTGATAT	0.443																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1129-1131)GGA>AGA		adenylate cyclase 2							260.0	231.0	241.0					5																	7706876		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7706876G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1129G>A	5.37:g.7706876G>A	ENSP00000342952:p.Gly377Arg					ADCY2_uc011cmo.1_Missense_Mutation_p.G197R	p.G377R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			8	1196	+			377			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1129G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679735	0.68042	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.80653	-1.4;-1.4	5.23	5.23	0.72850	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.054885	0.64402	D	0.000001	D	0.90113	0.6911	M	0.77712	2.385	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91251	0.5029	10	0.87932	D	0	.	18.8188	0.92088	0.0:0.0:1.0:0.0	.	197;377	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	377;228;197	ENSP00000342952:G377R;ENSP00000444803:G197R	ENSP00000342952:G377R	G	+	1	0	ADCY2	7759876	1.000000	0.71417	0.051000	0.19133	0.326000	0.28443	9.588000	0.98232	2.445000	0.82738	0.655000	0.94253	GGA		0.443	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		54	131	0	0	0	0	54	131				
ADCY2	108	broad.mit.edu	37	5	7757586	7757586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:7757586C>G	ENST00000338316.4	+	16	2070	c.1981C>G	c.(1981-1983)Ctg>Gtg	p.L661V	ADCY2_ENST00000537121.1_Missense_Mutation_p.L481V	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	661					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCCTCTCCCCTGCTCATGTG	0.473																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1981-1983)CTG>GTG		adenylate cyclase 2							122.0	126.0	124.0					5																	7757586		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7757586C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1981C>G	5.37:g.7757586C>G	ENSP00000342952:p.Leu661Val					ADCY2_uc011cmo.1_Missense_Mutation_p.L481V	p.L661V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			16	2048	+			661					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1981C>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576345	0.13686	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.42513	0.97;0.97	5.49	1.76	0.24704	.	0.421699	0.26792	N	0.022466	T	0.25232	0.0613	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.004	T	0.19128	-1.0315	10	0.17832	T	0.49	.	5.3143	0.15847	0.0:0.098:0.3224:0.5796	.	481;661	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	661;494;481	ENSP00000342952:L661V;ENSP00000444803:L481V	ENSP00000342952:L661V	L	+	1	2	ADCY2	7810586	0.822000	0.29219	0.001000	0.08648	0.969000	0.65631	2.113000	0.41902	0.060000	0.16281	0.655000	0.94253	CTG		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		57	184	0	0	0	0	57	184				
DNAH5	1767	broad.mit.edu	37	5	13735314	13735314	+	Missense_Mutation	SNP	G	G	A	rs367792636		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13735314G>A	ENST00000265104.4	-	68	11791	c.11687C>T	c.(11686-11688)aCc>aTc	p.T3896I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3896					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)					AAGCAACAAGGTGAACAGGAA	0.418									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11686-11688)ACC>ATC		dynein, axonemal, heavy chain 5		G	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	135.0	123.0	127.0		11687	5.6	1.0	5		127	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	3896/4625	13735314	1,13005	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.chr5:13735314G>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.11687C>T	5.37:g.13735314G>A	ENSP00000265104:p.Thr3896Ile					DNAH5_uc003jfc.2_Missense_Mutation_p.T64I	p.T3896I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			68	11729	-	Lung NSC(4;0.00476)		3896					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11687C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655583	0.67586	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.57436	0.4	5.61	5.61	0.85477	.	0.096948	0.64402	D	0.000001	T	0.56702	0.2003	M	0.65677	2.01	0.80722	D	1	B	0.20164	0.042	B	0.25291	0.059	T	0.52764	-0.8532	10	0.40728	T	0.16	.	19.6252	0.95676	0.0:0.0:1.0:0.0	.	3896	Q8TE73	DYH5_HUMAN	I	3896	ENSP00000265104:T3896I	ENSP00000265104:T3896I	T	-	2	0	DNAH5	13788314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.689000	0.98673	2.645000	0.89757	0.650000	0.86243	ACC		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		38	90	0	0	0	0	38	90				
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:13865914C>A	ENST00000265104.4	-	27	4322	c.4218G>T	c.(4216-4218)aaG>aaT	p.K1406N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1406N(1)		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)					TTAGTTGCTTCTTTATTTCAA	0.343									Kartagener syndrome																													uc003jfd.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4216-4218)AAG>AAT		dynein, axonemal, heavy chain 5							50.0	54.0	52.0					5																	13865914		2202	4299	6501	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.chr5:13865914C>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.4218G>T	5.37:g.13865914C>A	ENSP00000265104:p.Lys1406Asn						p.K1406N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			27	4260	-	Lung NSC(4;0.00476)		1406			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4218G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605872	0.66445	.	.	ENSG00000039139	ENST00000265104	T	0.62105	0.05	5.88	3.13	0.36017	Dynein heavy chain, domain-2 (1);	0.061993	0.64402	D	0.000001	T	0.77558	0.4148	M	0.85630	2.765	0.50039	D	0.999845	D	0.63046	0.992	D	0.69654	0.965	T	0.78763	-0.2077	10	0.72032	D	0.01	.	9.5253	0.39160	0.0:0.7339:0.0:0.2661	.	1406	Q8TE73	DYH5_HUMAN	N	1406	ENSP00000265104:K1406N	ENSP00000265104:K1406N	K	-	3	2	DNAH5	13918914	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.603000	0.24149	0.843000	0.35070	0.637000	0.83480	AAG		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		40	75	1	0	1.97e-18	2.7e-18	40	75				
MARCH11	441061	broad.mit.edu	37	5	16067854	16067854	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:16067854C>A	ENST00000332432.8	-	4	1134	c.935G>T	c.(934-936)tGg>tTg	p.W312L		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	312					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CACAGCTCGCCAGCGCTTAAA	0.428																																						uc003jfo.2		NA																	0					0						c.(934-936)TGG>TTG		membrane-associated ring finger (C3HC4) 11							56.0	54.0	54.0					5																	16067854		1895	4131	6026	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067854C>A	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.935G>T	5.37:g.16067854C>A	ENSP00000333181:p.Trp312Leu					MARCH11_uc010itw.1_Missense_Mutation_p.W68L	p.W312L	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1148	-			312					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.935G>T	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801637	0.90538	.	.	ENSG00000183654	ENST00000332432	T	0.43688	0.94	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63367	0.2505	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56044	-0.8044	10	0.30078	T	0.28	-14.6982	19.8453	0.96705	0.0:1.0:0.0:0.0	.	312	A6NNE9	MARHB_HUMAN	L	312	ENSP00000333181:W312L	ENSP00000333181:W312L	W	-	2	0	MARCH11	16120854	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.249000	0.78278	2.754000	0.94517	0.655000	0.94253	TGG		0.428	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		21	40	1	0	2.39e-15	3.18e-15	21	40				
DAB2	1601	broad.mit.edu	37	5	39377090	39377090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39377090G>A	ENST00000320816.6	-	12	2266	c.1799C>T	c.(1798-1800)cCa>cTa	p.P600L	DAB2_ENST00000545653.1_Missense_Mutation_p.P579L|DAB2_ENST00000339788.6_Missense_Mutation_p.P382L|DAB2_ENST00000509337.1_Missense_Mutation_p.P579L	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	600					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGCAGGAGCTGGAAAAATATT	0.572											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(1798-1800)CCA>CTA		disabled homolog 2							92.0	111.0	104.0					5																	39377090		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39377090G>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1799C>T	5.37:g.39377090G>A	ENSP00000313391:p.Pro600Leu		OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_uc003jlw.2_Missense_Mutation_p.P579L	p.P600L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2330	-	all_lung(31;0.000197)		600					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.1799C>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272332	0.80580	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.58060	0.36;0.91;0.63;0.63	5.09	5.09	0.68999	.	0.553965	0.18790	N	0.131098	T	0.66187	0.2764	L	0.59436	1.845	0.58432	D	0.999994	D;P	0.61697	0.99;0.905	P;P	0.59357	0.856;0.57	T	0.68784	-0.5317	10	0.72032	D	0.01	-3.6667	15.6845	0.77400	0.0:0.0:1.0:0.0	.	600;579	P98082;P98082-3	DAB2_HUMAN;.	L	600;382;579;579	ENSP00000313391:P600L;ENSP00000345508:P382L;ENSP00000439919:P579L;ENSP00000426245:P579L	ENSP00000313391:P600L	P	-	2	0	DAB2	39412847	1.000000	0.71417	0.937000	0.37676	0.974000	0.67602	8.763000	0.91715	2.366000	0.80165	0.655000	0.94253	CCA		0.572	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		48	147	0	0	0	0	48	147				
DAB2	1601	broad.mit.edu	37	5	39381569	39381569	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:39381569G>T	ENST00000320816.6	-	11	1958	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	DAB2_ENST00000545653.1_Silent_p.P476P|DAB2_ENST00000339788.6_Silent_p.P279P|DAB2_ENST00000509337.1_Silent_p.P476P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	497					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GACCCACCAGGGGCCCCACTG	0.507																																						uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(1489-1491)CCC>CCA		disabled homolog 2							84.0	94.0	91.0					5																	39381569		2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39381569G>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1491C>A	5.37:g.39381569G>T						DAB2_uc003jlw.2_Silent_p.P476P	p.P497P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		11	2022	-	all_lung(31;0.000197)		497					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1491C>A	CCDS34149.1																																																																																				0.507	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		57	174	1	0	3.4e-17	4.63e-17	57	174				
CARD6	84674	broad.mit.edu	37	5	40853333	40853333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:40853333G>A	ENST00000254691.5	+	3	2098	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	633					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGGAAGTGATGTTCTCTTCTT	0.522																																						uc003jmg.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1897-1899)ATG>ATA		caspase recruitment domain family, member 6							139.0	140.0	140.0					5																	40853333		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853333G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1899G>A	5.37:g.40853333G>A	ENSP00000254691:p.Met633Ile						p.M633I	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1974	+			633					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1899G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095490	0.36952	.	.	ENSG00000132357	ENST00000254691	T	0.11930	2.73	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000003	T	0.24851	0.0603	L	0.38953	1.18	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00950	-1.1503	10	0.22706	T	0.39	-19.5605	13.6738	0.62440	0.0:0.0:1.0:0.0	.	633	Q9BX69	CARD6_HUMAN	I	633	ENSP00000254691:M633I	ENSP00000254691:M633I	M	+	3	0	CARD6	40889090	1.000000	0.71417	0.997000	0.53966	0.492000	0.33523	3.681000	0.54648	2.606000	0.88127	0.561000	0.74099	ATG		0.522	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			11	278	0	0	0	0	11	278				
MROH2B	133558	broad.mit.edu	37	5	41004450	41004450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41004450C>A	ENST00000399564.4	-	37	4642	c.4192G>T	c.(4192-4194)Gat>Tat	p.D1398Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.D953Y	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1398																	TCACTTACATCTTCAAAGAAG	0.458																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(4192-4194)GAT>TAT		HEAT repeat family member 7B2							127.0	123.0	124.0					5																	41004450		1936	4139	6075	SO:0001583	missense	133558						binding	g.chr5:41004450C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4192G>T	5.37:g.41004450C>A	ENSP00000382476:p.Asp1398Tyr					HEATR7B2_uc003jmi.3_Missense_Mutation_p.D953Y	p.D1398Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			37	4682	-			1398			HEAT 15.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4192G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036793	0.75617	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.72167	-0.63;-0.63	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.81763	0.4891	L	0.59436	1.845	0.44627	D	0.9976	D	0.89917	1.0	D	0.91635	0.999	T	0.82067	-0.0641	10	0.62326	D	0.03	.	15.7183	0.77688	0.0:1.0:0.0:0.0	.	1398	Q7Z745	HTRB2_HUMAN	Y	953;1103;1398	ENSP00000441504:D953Y;ENSP00000382476:D1398Y	ENSP00000296803:D1103Y	D	-	1	0	HEATR7B2	41040207	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.622000	0.36997	2.785000	0.95823	0.655000	0.94253	GAT		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		62	109	1	0	6.56e-45	9.81e-45	62	109				
PLCXD3	345557	broad.mit.edu	37	5	41382389	41382389	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:41382389G>T	ENST00000377801.3	-	2	425	c.351C>A	c.(349-351)ttC>ttA	p.F117L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F117L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	117	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTTTGGCACTGAACAAACCAT	0.448																																						uc003jmm.1		NA																	0				skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(349-351)TTC>TTA		phosphatidylinositol-specific phospholipase C, X							103.0	103.0	103.0					5																	41382389		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382389G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.351C>A	5.37:g.41382389G>T	ENSP00000367032:p.Phe117Leu						p.F117L	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	453	-			117			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.351C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147278	0.77888	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.62364	0.03;0.03	5.86	5.86	0.93980	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.67569	2.06	0.80722	D	1	D	0.53885	0.963	D	0.67231	0.95	T	0.66559	-0.5893	10	0.11794	T	0.64	-13.7065	11.4685	0.50254	0.1382:0.0:0.8618:0.0	.	117	Q63HM9	PLCX3_HUMAN	L	117	ENSP00000367032:F117L;ENSP00000333751:F117L	ENSP00000333751:F117L	F	-	3	2	PLCXD3	41418146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.776000	0.95493	0.655000	0.94253	TTC		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		57	116	1	0	3.89e-19	5.41e-19	57	116				
IQGAP2	10788	broad.mit.edu	37	5	75936852	75936852	+	Missense_Mutation	SNP	G	G	T	rs371907881		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:75936852G>T	ENST00000274364.6	+	17	2315	c.2018G>T	c.(2017-2019)gGa>gTa	p.G673V	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	673					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAAGCTCAGGACCCATCCTT	0.423																																						uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(2017-2019)GGA>GTA		IQ motif containing GTPase activating protein 2							99.0	101.0	101.0					5																	75936852		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75936852G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2018G>T	5.37:g.75936852G>T	ENSP00000274364:p.Gly673Val					IQGAP2_uc010izv.2_Missense_Mutation_p.G226V|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron	p.G673V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	17	2240	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	673					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2018G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580771	0.28180	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000545384	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.75	4.86	0.63082	.	0.106936	0.64402	D	0.000005	T	0.56601	0.1996	M	0.69185	2.1	0.44547	D	0.997504	D;D	0.76494	0.987;0.999	D;D	0.72338	0.913;0.977	T	0.59600	-0.7424	10	0.59425	D	0.04	-21.77	12.9764	0.58540	0.0:0.1622:0.8378:0.0	.	623;673	E7EWC2;Q13576	.;IQGA2_HUMAN	V	673;646;623;226;226	ENSP00000274364:G673V;ENSP00000423672:G646V;ENSP00000421097:G623V;ENSP00000422661:G226V	ENSP00000274364:G673V	G	+	2	0	IQGAP2	75972608	0.940000	0.31905	0.114000	0.21550	0.017000	0.09413	2.422000	0.44696	1.523000	0.49018	0.650000	0.86243	GGA		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		26	52	1	0	1.18e-10	1.48e-10	26	52				
PDE8B	8622	broad.mit.edu	37	5	76703252	76703252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:76703252C>A	ENST00000264917.5	+	13	1380	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q	PDE8B_ENST00000346042.3_Missense_Mutation_p.H348Q|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000333194.4_Missense_Mutation_p.H445Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.H425Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.H398Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	445					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CGAGGATCCACTCCATGACCA	0.582																																						uc003kfa.2		NA																	0					0						c.(1333-1335)CAC>CAA		phosphodiesterase 8B isoform 1							146.0	97.0	114.0					5																	76703252		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76703252C>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1335C>A	5.37:g.76703252C>A	ENSP00000264917:p.His445Gln					PDE8B_uc003kfb.2_Missense_Mutation_p.H425Q|PDE8B_uc003kfc.2_Missense_Mutation_p.H445Q|PDE8B_uc003kfd.2_Missense_Mutation_p.H398Q|PDE8B_uc003kfe.2_Missense_Mutation_p.H348Q	p.H445Q	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	13	1380	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	445					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1335C>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853229	0.71719	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.72835	-0.38;-0.44;-0.38;-0.38;-0.69	5.66	0.335	0.15953	.	1.904760	0.02203	N	0.062464	D	0.82852	0.5127	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D	0.59357	0.972;0.985;0.985;0.985;0.974	P;P;P;P;P	0.61592	0.891;0.828;0.868;0.828;0.677	T	0.70324	-0.4903	10	0.62326	D	0.03	.	14.1917	0.65641	0.0:0.725:0.0:0.275	.	348;398;445;425;445	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	Q	398;348;445;425;445	ENSP00000345446:H398Q;ENSP00000330428:H348Q;ENSP00000264917:H445Q;ENSP00000345646:H425Q;ENSP00000331336:H445Q	ENSP00000264917:H445Q	H	+	3	2	PDE8B	76739008	0.885000	0.30320	0.998000	0.56505	0.998000	0.95712	0.018000	0.13422	-0.007000	0.14345	0.655000	0.94253	CAC		0.582	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		23	67	1	0	3.74e-18	5.11e-18	23	67				
NR2F1	7025	broad.mit.edu	37	5	92929334	92929334	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:92929334A>T	ENST00000327111.3	+	3	2745	c.1058A>T	c.(1057-1059)gAg>gTg	p.E353V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	353					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGCGCACTGGAGGAGTACGTG	0.647																																						uc003kkj.2		NA																	0				urinary_tract(1)|ovary(1)|lung(1)	3						c.(1057-1059)GAG>GTG		nuclear receptor subfamily 2, group F, member 1							72.0	77.0	75.0					5																	92929334		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929334A>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1058A>T	5.37:g.92929334A>T	ENSP00000325819:p.Glu353Val						p.E353V	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2745	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	353						Missense_Mutation	SNP	ENST00000327111.3	37	c.1058A>T	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503673	0.85176	.	.	ENSG00000175745	ENST00000327111	D	0.96745	-4.11	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99029	1.0820	10	0.87932	D	0	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	353	P10589	COT1_HUMAN	V	353	ENSP00000325819:E353V	ENSP00000325819:E353V	E	+	2	0	NR2F1	92955090	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.302000	0.72788	2.371000	0.80710	0.533000	0.62120	GAG		0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		23	77	0	0	0	0	23	77				
EFNA5	1946	broad.mit.edu	37	5	106763036	106763037	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:106763036_106763037CC>AA	ENST00000333274.6	-	2	580_581	c.299_300GG>TT	c.(298-300)tGG>tTT	p.W100F	EFNA5_ENST00000509503.1_Missense_Mutation_p.W100F	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	100	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GGTTACATTCCCATCTCTTGAA	0.495																																						uc003kol.2		NA																	0					0						c.(298-300)TGG>TTT		ephrin-A5 precursor																																				SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106763036_106763037CC>AA	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.299_300delinsAA	5.37:g.106763036_106763037delinsAA	ENSP00000328777:p.Trp100Phe					EFNA5_uc010jbr.1_Missense_Mutation_p.W100F	p.W100F	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	2	581_582	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	100						Missense_Mutation	DNP	ENST00000333274.6	37	c.299_300GG>TT	CCDS4097.1																																																																																				0.495	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		28	81	0	0	0	0	28	81				
ANKHD1	54882	broad.mit.edu	37	5	139908268	139908268	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:139908268C>T	ENST00000360839.2	+	29	5891	c.5737C>T	c.(5737-5739)Cta>Tta	p.L1913L	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Silent_p.L296L|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.L1913L|ANKHD1_ENST00000297183.6_Silent_p.L1913L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1913						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGCCGTCTACCTAACCA	0.488																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(5737-5739)CTA>TTA		ANKHD1-EIF4EBP3 protein							93.0	83.0	86.0					5																	139908268		2203	4300	6503	SO:0001819	synonymous_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139908268C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5737C>T	5.37:g.139908268C>T						ANKHD1_uc003lfr.2_Silent_p.L1913L|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.L652L|ANKHD1_uc003lfw.2_Silent_p.L551L|ANKHD1_uc010jfl.2_Silent_p.L348L|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.L50L	p.L1913L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5861	+			1913					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.5737C>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	1.534	-0.543523	0.04053	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	4.98	3.16	0.36331	.	.	.	.	.	T	0.23649	0.0572	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	2.0929	0.03660	0.1399:0.4775:0.2087:0.1739	.	.	.	.	F	403;363	.	.	S	+	2	0	ANKHD1	139888452	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.979000	0.40608	0.664000	0.31047	0.650000	0.86243	TCT		0.488	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		28	48	0	0	0	0	28	48				
PCDHB6	56130	broad.mit.edu	37	5	140530659	140530659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140530659G>A	ENST00000231136.1	+	1	821	c.821G>A	c.(820-822)gGg>gAg	p.G274E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G138E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	274	Cadherin 3. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATCGTTTGGGAAGGTATCT	0.473																																						uc003lir.2		NA																	0				skin(1)	1						c.(820-822)GGG>GAG		protocadherin beta 6 precursor							75.0	77.0	77.0					5																	140530659		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530659G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.821G>A	5.37:g.140530659G>A	ENSP00000231136:p.Gly274Glu					PCDHB6_uc011dah.1_Missense_Mutation_p.G138E	p.G274E	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	821	+			274			Cadherin 3.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.821G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506989	0.64410	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.51817	0.69;0.69	4.85	3.93	0.45458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75583	0.3869	M	0.93939	3.475	0.40783	D	0.983195	D	0.89917	1.0	D	0.97110	1.0	D	0.83733	0.0199	9	0.87932	D	0	.	15.0976	0.72247	0.0:0.3065:0.6935:0.0	.	274	Q9Y5E3	PCDB6_HUMAN	E	138;274;59	ENSP00000438466:G138E;ENSP00000231136:G274E	ENSP00000231136:G274E	G	+	2	0	PCDHB6	140510843	0.812000	0.29077	0.845000	0.33349	0.934000	0.57294	1.137000	0.31479	2.394000	0.81467	0.561000	0.74099	GGG		0.473	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		19	54	0	0	0	0	19	54				
PCDHB10	56126	broad.mit.edu	37	5	140569126	140569126	+	5'Flank	SNP	G	G	A	rs549800227		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140569126G>A	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGACCCTGTTCCAGAGCT	0.647																																						uc003liw.1		NA																	0					0						c.(2233-2235)CTG>CTA		protocadherin beta 9 precursor							99.0	117.0	111.0					5																	140569126		2203	4300	6503	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569126G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569126G>A	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.L745L	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2235	+			745			Cytoplasmic (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.2235G>A	CCDS4252.1																																																																																				0.647	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		109	99	0	0	0	0	109	99				
PCDHB13	56123	broad.mit.edu	37	5	140595270	140595271	+	Missense_Mutation	DNP	GG	GG	TT	rs374888411		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140595270_140595271GG>TT	ENST00000341948.4	+	1	1762_1763	c.1575_1576GG>TT	c.(1573-1578)caGGgg>caTTgg	p.525_526QG>HW		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTGCAGGGGTTCCAGTT	0.693																																						uc003lja.1		NA																	0				skin(2)|ovary(1)	3						c.(1573-1578)CAGGGG>CATTGG		protocadherin beta 13 precursor																																				SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595270_140595271GG>TT	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	Exception_encountered	5.37:g.140595270_140595271delinsTT	ENSP00000345491:p.Q525_G526delinsHW						p.525_526QG>HW	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1762_1763	+			525_526			Extracellular (Potential).|Cadherin 5.		A8K9V6	Missense_Mutation	DNP	ENST00000341948.4	37	c.1575_1576GG>TT	CCDS4255.1																																																																																				0.693	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		62	53	0	0	0	0	62	53				
PCDHGA7	56108	broad.mit.edu	37	5	140763189	140763189	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140763189C>T	ENST00000518325.1	+	1	723	c.723C>T	c.(721-723)gtC>gtT	p.V241V	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	241	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCCTGTCTTCTCTCTGC	0.587																																						uc003lka.1		NA																	0					0						c.(721-723)GTC>GTT		protocadherin gamma subfamily A, 7 isoform 1							38.0	39.0	39.0					5																	140763189		2091	4212	6303	SO:0001819	synonymous_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763189C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.723C>T	5.37:g.140763189C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.V241V	p.V241V	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	723	+			241			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.723C>T	CCDS54927.1																																																																																				0.587	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		11	27	0	0	0	0	11	27				
PCDHGA11	56105	broad.mit.edu	37	5	140802351	140802351	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140802351A>T	ENST00000398587.2	+	1	1590	c.1557A>T	c.(1555-1557)caA>caT	p.Q519H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.Q519H|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTACAATCCTTCGACT	0.542																																						uc003lkq.1		NA																	0					0						c.(1555-1557)CAA>CAT		protocadherin gamma subfamily A, 11 isoform 1							114.0	132.0	126.0					5																	140802351		2198	4300	6498	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802351A>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1557A>T	5.37:g.140802351A>T	ENSP00000381589:p.Gln519His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.Q519H|PCDHGA11_uc003lkp.1_Missense_Mutation_p.Q519H	p.Q519H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1815	+			519			Extracellular (Potential).|Cadherin 5.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1557A>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	1.681	-0.506384	0.04231	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.52754	0.65;0.65	5.92	-2.96	0.05547	Cadherin (5);Cadherin-like (1);	1.269030	0.06909	U	0.807228	T	0.35189	0.0923	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12837	0.008;0.006;0.005	T	0.36432	-0.9748	10	0.49607	T	0.09	.	2.9934	0.05990	0.3453:0.3791:0.1321:0.1434	.	519;519;519	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	H	519	ENSP00000381589:Q519H;ENSP00000428333:Q519H	ENSP00000381589:Q519H	Q	+	3	2	PCDHGA11	140782535	0.000000	0.05858	0.018000	0.16275	0.131000	0.20780	-6.309000	0.00071	-0.349000	0.08274	0.533000	0.62120	CAA		0.542	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		43	126	0	0	0	0	43	126				
PCDHGC5	56097	broad.mit.edu	37	5	140868945	140868945	+	Silent	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:140868945G>C	ENST00000252087.1	+	1	138	c.138G>C	c.(136-138)ggG>ggC	p.G46G	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGGGAATGTTGCTC	0.572																																						uc003lla.1		NA																	0				ovary(3)	3						c.(136-138)GGG>GGC		protocadherin gamma subfamily C, 5 isoform 1							107.0	105.0	106.0					5																	140868945		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140868945G>C	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.138G>C	5.37:g.140868945G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.G46G	p.G46G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	138	+			46			Extracellular (Potential).|Cadherin 1.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.138G>C	CCDS4263.1																																																																																				0.572	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		16	65	0	0	0	0	16	65				
SH3TC2	79628	broad.mit.edu	37	5	148389880	148389880	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:148389880A>T	ENST00000515425.1	-	14	3381	c.3280T>A	c.(3280-3282)Ttc>Atc	p.F1094I	SH3TC2_ENST00000512049.1_Missense_Mutation_p.F1087I|SH3TC2_ENST00000502274.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.F641I	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1094					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGAAGAACACATCACCT	0.537																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(3280-3282)TTC>ATC		SH3 domain and tetratricopeptide repeats 2							89.0	82.0	84.0					5																	148389880		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148389880A>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3280T>A	5.37:g.148389880A>T	ENSP00000423660:p.Phe1094Ile					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.F738I|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.F641I|SH3TC2_uc010jgx.2_Missense_Mutation_p.F1087I	p.F1094I	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	3432	-			1094			TPR 5.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3280T>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	32	5.159256	0.94686	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.76448	-1.02;-0.98;-0.94	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.065591	0.64402	D	0.000005	D	0.86297	0.5899	M	0.73962	2.25	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.60415	0.874;0.859;0.874	D	0.87975	0.2739	10	0.87932	D	0	-27.7636	16.3634	0.83296	1.0:0.0:0.0:0.0	.	1087;1094;1094	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	I	641;1094;1087	ENSP00000441427:F641I;ENSP00000423660:F1094I;ENSP00000421860:F1087I	ENSP00000425627:F1094I	F	-	1	0	SH3TC2	148370073	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.561000	0.90715	2.324000	0.78689	0.533000	0.62120	TTC		0.537	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		29	33	0	0	0	0	29	33				
MYOZ3	91977	broad.mit.edu	37	5	150056389	150056389	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150056389A>T	ENST00000297130.4	+	7	907	c.708A>T	c.(706-708)agA>agT	p.R236S	MYOZ3_ENST00000520112.1_Missense_Mutation_p.S153C|MYOZ3_ENST00000456566.2_3'UTR|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R236S	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCAACAGAGTGGCCCAGG	0.637																																						uc003lss.2		NA																	0				skin(1)	1						c.(706-708)AGA>AGT		myozenin 3							60.0	67.0	65.0					5																	150056389		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150056389A>T	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.708A>T	5.37:g.150056389A>T	ENSP00000297130:p.Arg236Ser					MYOZ3_uc003lsr.2_Missense_Mutation_p.R236S	p.R236S	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1295	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	236						Missense_Mutation	SNP	ENST00000297130.4	37	c.708A>T	CCDS4309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.315585|4.315585	0.81469|0.81469	.|.	.|.	ENSG00000164591|ENSG00000164591	ENST00000517768;ENST00000297130|ENST00000520112	T;T|.	0.74632|.	-0.86;-0.86|.	5.2|5.2	2.86|2.86	0.33363|0.33363	.|.	0.000000|.	0.64402|.	D|.	0.000015|.	T|T	0.57227|0.57227	0.2039|0.2039	M|M	0.84326|0.84326	2.69|2.69	0.23506|0.23506	N|N	0.997538|0.997538	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.53422|0.53422	-0.8441|-0.8441	10|6	0.87932|0.87932	D|D	0|0	-21.4683|-21.4683	5.3161|5.3161	0.15856|0.15856	0.7141:0.0:0.2859:0.0|0.7141:0.0:0.2859:0.0	.|.	236|.	Q8TDC0|.	MYOZ3_HUMAN|.	S|C	236|153	ENSP00000428815:R236S;ENSP00000297130:R236S|.	ENSP00000297130:R236S|ENSP00000429439:S153C	R|S	+|+	3|1	2|0	MYOZ3|MYOZ3	150036582|150036582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.839000|0.839000	0.27586|0.27586	0.341000|0.341000	0.23771|0.23771	0.533000|0.533000	0.62120|0.62120	AGA|AGT		0.637	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		35	81	0	0	0	0	35	81				
FAT2	2196	broad.mit.edu	37	5	150920141	150920141	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:150920141G>C	ENST00000261800.5	-	10	9038	c.9026C>G	c.(9025-9027)cCa>cGa	p.P3009R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3009	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACACTGTGGGCTGTTATC	0.537																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(9025-9027)CCA>CGA		FAT tumor suppressor 2 precursor							79.0	68.0	72.0					5																	150920141		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150920141G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9026C>G	5.37:g.150920141G>C	ENSP00000261800:p.Pro3009Arg					GM2A_uc011dcs.1_Intron	p.P3009R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	9039	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3009			Extracellular (Potential).|Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9026C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453189	0.84209	.	.	ENSG00000086570	ENST00000261800	D	0.85258	-1.96	5.02	5.02	0.67125	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000009	D	0.95784	0.8628	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97814	1.0252	10	0.87932	D	0	.	18.3468	0.90325	0.0:0.0:1.0:0.0	.	3009	Q9NYQ8	FAT2_HUMAN	R	3009	ENSP00000261800:P3009R	ENSP00000261800:P3009R	P	-	2	0	FAT2	150900334	1.000000	0.71417	0.936000	0.37596	0.971000	0.66376	9.787000	0.99055	2.344000	0.79699	0.462000	0.41574	CCA		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		11	15	0	0	0	0	11	15				
KIF4B	285643	broad.mit.edu	37	5	154394078	154394078	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:154394078T>C	ENST00000435029.4	+	1	819	c.659T>C	c.(658-660)aTa>aCa	p.I220T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	220	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			I -> L (in Ref. 1; AF241316). {ECO:0000305}.	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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAATCTCCATAGAGCAAAGA	0.468																																						uc010jih.1		NA																	0				ovary(1)	1						c.(658-660)ATA>ACA		kinesin family member 4B							102.0	99.0	100.0					5																	154394078		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394078T>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.659T>C	5.37:g.154394078T>C	ENSP00000387875:p.Ile220Thr						p.I220T	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	819	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	220	I -> L (in Ref. 1; AF241316).		Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.659T>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	t	7.767	0.706659	0.15239	.	.	ENSG00000226650	ENST00000435029	T	0.78364	-1.17	1.73	1.73	0.24493	Kinesin, motor domain (5);	.	.	.	.	T	0.80325	0.4602	M	0.87827	2.91	0.30217	N	0.797173	B	0.16603	0.018	B	0.32211	0.142	T	0.78685	-0.2108	9	0.87932	D	0	.	7.4446	0.27203	0.0:0.0:0.0:1.0	.	220	Q2VIQ3	KIF4B_HUMAN	T	220	ENSP00000387875:I220T	ENSP00000387875:I220T	I	+	2	0	KIF4B	154374271	0.994000	0.37717	0.962000	0.40283	0.567000	0.35839	2.767000	0.47637	1.070000	0.40811	0.533000	0.62120	ATA		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			39	83	0	0	0	0	39	83				
SLIT3	6586	broad.mit.edu	37	5	168244400	168244400	+	Missense_Mutation	SNP	C	C	A	rs151091745		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:168244400C>A	ENST00000519560.1	-	8	1117	c.698G>T	c.(697-699)cGa>cTa	p.R233L	SLIT3_ENST00000332966.8_Missense_Mutation_p.R233L|SLIT3_ENST00000404867.3_Missense_Mutation_p.R233L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	233	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTGTCCGTCGCTGTCGCAG	0.617																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(697-699)CGA>CTA		slit homolog 3 precursor							72.0	66.0	68.0					5																	168244400		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244400C>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.698G>T	5.37:g.168244400C>A	ENSP00000430333:p.Arg233Leu					SLIT3_uc010jjg.2_Missense_Mutation_p.R233L|SLIT3_uc010jji.2_Missense_Mutation_p.R233L|SLIT3_uc003mac.1_Missense_Mutation_p.R30L	p.R233L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1118	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	233			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.698G>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065771	0.93898	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76316	-1.01;-0.99;-1.0	5.62	4.74	0.60224	Cysteine-rich flanking region, C-terminal (1);	0.044127	0.85682	N	0.000000	D	0.88463	0.6443	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.993;0.989;0.984	D	0.89504	0.3766	10	0.52906	T	0.07	.	15.803	0.78471	0.137:0.863:0.0:0.0	.	233;233;233	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	L	233	ENSP00000430333:R233L;ENSP00000332164:R233L;ENSP00000384890:R233L	ENSP00000332164:R233L	R	-	2	0	SLIT3	168176978	1.000000	0.71417	0.921000	0.36526	0.992000	0.81027	7.786000	0.85741	1.330000	0.45394	0.561000	0.74099	CGA		0.617	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	40	1	0	1.05e-09	1.31e-09	9	40				
HIST1H3J	8356	broad.mit.edu	37	6	27858380	27858380	+	Missense_Mutation	SNP	C	C	T	rs372622507		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27858380C>T	ENST00000359303.2	-	1	190	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	64					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGGCAGTTTGCGGATGAGCAG	0.607																																						uc003nka.2		NA																	0				ovary(1)	1						c.(190-192)CGC>CAC		histone cluster 1, H3j		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	61.0	61.0		191	4.0	1.0	6		61	0,8600		0,0,4300	no	missense	HIST1H3J	NM_003535.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	64/137	27858380	1,13005	2203	4300	6503	SO:0001583	missense	8356				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27858380C>T	Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.191G>A	6.37:g.27858380C>T	ENSP00000352252:p.Arg64His					HIST1H2BO_uc003nkc.1_5'Flank	p.R64H	NM_003535	NP_003526	P68431	H31_HUMAN			1	191	-			64					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000359303.2	37	c.191G>A	CCDS4638.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879071	0.72294	2.27E-4	0.0	ENSG00000197153	ENST00000359303	T	0.46819	0.86	3.96	3.96	0.45880	.	.	.	.	.	T	0.54111	0.1838	.	.	.	0.46356	D	0.999009	.	.	.	.	.	.	T	0.57528	-0.7796	6	0.56958	D	0.05	.	15.8159	0.78599	0.0:1.0:0.0:0.0	.	.	.	.	H	64	ENSP00000352252:R64H	ENSP00000352252:R64H	R	-	2	0	HIST1H3J	27966359	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	7.220000	0.78008	2.503000	0.84419	0.655000	0.94253	CGC		0.607	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043453.2	NM_003535		6	96	0	0	0	0	6	96				
OR2B6	26212	broad.mit.edu	37	6	27925796	27925796	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:27925796C>T	ENST00000244623.1	+	1	778	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGTACCTGCAACCACC	0.453																																						uc011dkx.1		NA																	0				skin(1)	1						c.(778-780)CTG>TTG		olfactory receptor, family 2, subfamily B,							149.0	141.0	144.0					6																	27925796		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925796C>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.778C>T	6.37:g.27925796C>T							p.L260L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	778	+			260			Extracellular (Potential).		O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.778C>T	CCDS4642.1																																																																																				0.453	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			112	61	0	0	0	0	112	61				
HLA-F	3134	broad.mit.edu	37	6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:29691698G>A	ENST00000376861.1	+	3	712	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K|HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K|HLA-F_ENST00000440587.2_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E110K(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAACCAGAGCGAGGCTGGTGA	0.677																																						uc010jrl.2		NA																	2	Substitution - Missense(2)		cervix(2)		0						c.(328-330)GAG>AAG		major histocompatibility complex, class I, F							10.0	11.0	11.0					6																	29691698		1491	2698	4189	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29691698G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.328G>A	6.37:g.29691698G>A	ENSP00000366057:p.Glu110Lys					HLA-F_uc003nnm.3_Missense_Mutation_p.E110K|HLA-F_uc003nno.3_Missense_Mutation_p.E110K|HLA-F_uc011dlx.1_Missense_Mutation_p.E110K|HLA-F_uc011dly.1_RNA	p.E110K	NM_018950	NP_061823	P30511	HLAF_HUMAN			2	452	+			110			Alpha-1.|Extracellular (Potential).		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.328G>A	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	17.59	3.428614	0.62844	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000434407	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	1.63	0.44	0.16572	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01254	0.0041	M	0.64630	1.985	0.80722	D	1	D;D;P;P	0.54964	0.969;0.962;0.953;0.953	P;P;P;P	0.61940	0.616;0.745;0.628;0.896	T	0.63786	-0.6558	9	0.66056	D	0.02	.	5.0562	0.14533	0.0:0.3839:0.6161:0.0	.	110;110;110;110	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	K	110;110;87;110;110;110	ENSP00000366057:E110K;ENSP00000389590:E110K;ENSP00000334263:E110K;ENSP00000259951:E110K;ENSP00000397376:E110K	ENSP00000259951:E110K	E	+	1	0	HLA-F	29799677	0.003000	0.15002	0.877000	0.34402	0.130000	0.20726	-0.490000	0.06482	0.871000	0.35750	0.436000	0.28706	GAG		0.677	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		8	0	0	0	0	0	8	0				
HLA-DOB	3112	broad.mit.edu	37	6	32782378	32782378	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:32782378A>T	ENST00000438763.2	-	3	458	c.362T>A	c.(361-363)gTg>gAg	p.V121E	TAP2_ENST00000452392.2_Splice_Site_p.V728E	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	121	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						CTCTGGTTGCACTAGGAAGGG	0.493																																						uc011dqf.1		NA																	0					0						c.(2182-2184)GTG>GAG		transporter 2, ATP-binding cassette, sub-family							120.0	132.0	128.0					6																	32782378		1510	2709	4219	SO:0001630	splice_region_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782378A>T		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.362-1T>A	6.37:g.32782378A>T						HLA-DOB_uc003oca.2_Missense_Mutation_p.V121E|HLA-DOB_uc011dqg.1_Missense_Mutation_p.V121E	p.V728E	NM_018833	NP_061313	Q03519	TAP2_HUMAN			14	2305	-			Error:Variant_position_missing_in_Q03519_after_alignment					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2183T>A	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520092	0.85495	.	.	ENSG00000241106;ENSG00000204267;ENSG00000250264	ENST00000438763;ENST00000556934;ENST00000452392	T;T	0.00627	6.12;6.12	3.96	3.96	0.45880	Immunoglobulin-like fold (1);	2.135850	0.02032	N	0.048625	T	0.00815	0.0027	M	0.66506	2.035	0.42996	D	0.9945	B;D;B	0.58620	0.006;0.983;0.041	B;P;B	0.50136	0.004;0.632;0.019	T	0.57027	-0.7881	10	0.62326	D	0.03	.	6.1596	0.20356	0.8899:0.0:0.1101:0.0	.	121;728;121	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	E	121;728;728	ENSP00000390020:V121E;ENSP00000391806:V728E	ENSP00000390020:V121E	V	-	2	0	XXbac-BPG246D15.9;TAP2;HLA-DOB	32890356	0.999000	0.42202	0.421000	0.26609	0.854000	0.48673	2.564000	0.45931	2.019000	0.59389	0.523000	0.50628	GTG		0.493	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120	Missense_Mutation	117	74	0	0	0	0	117	74				
WDR46	9277	broad.mit.edu	37	6	33254975	33254975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:33254975T>C	ENST00000374617.4	-	9	1264	c.908A>G	c.(907-909)gAt>gGt	p.D303G	PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	303							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CACTGACACATCCAGGTAGGT	0.517																																						uc003ods.2		NA																	0					0						c.(907-909)GAT>GGT		WD repeat domain 46 isoform 1							94.0	96.0	96.0					6																	33254975		2203	4300	6503	SO:0001583	missense	9277							g.chr6:33254975T>C	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.908A>G	6.37:g.33254975T>C	ENSP00000363746:p.Asp303Gly					WDR46_uc011dra.1_Missense_Mutation_p.D249G|WDR46_uc010juo.1_RNA|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank	p.D303G	NM_005452	NP_005443	O15213	WDR46_HUMAN			9	952	-			303			WD 3.		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	c.908A>G	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258799	0.80246	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.28069	4.31;1.63	4.84	4.84	0.62591	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	0.57140	0.2033	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69503	-0.5128	10	0.87932	D	0	-21.0491	12.4205	0.55518	0.0:0.0:0.0:1.0	.	249;303	B4DP15;O15213	.;WDR46_HUMAN	G	303;230	ENSP00000363746:D303G;ENSP00000405568:D230G	ENSP00000363746:D303G	D	-	2	0	WDR46	33362953	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.719000	0.74718	2.029000	0.59856	0.448000	0.29417	GAT		0.517	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452		120	61	0	0	0	0	120	61				
MAPK13	5603	broad.mit.edu	37	6	36104684	36104684	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:36104684G>T	ENST00000211287.4	+	8	901	c.639G>T	c.(637-639)atG>atT	p.M213I	MAPK13_ENST00000373761.6_Missense_Mutation_p.M203I|MAPK13_ENST00000373759.1_Intron|MAPK13_ENST00000373766.5_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCTGTATCATGGCAGAGATGC	0.527																																						uc003ols.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(637-639)ATG>ATT		mitogen-activated protein kinase 13							111.0	110.0	111.0					6																	36104684		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36104684G>T	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.639G>T	6.37:g.36104684G>T	ENSP00000211287:p.Met213Ile					MAPK13_uc003olt.2_Intron	p.M213I	NM_002754	NP_002745	O15264	MK13_HUMAN			8	737	+			213			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.639G>T	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325456	0.95708	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.62941	-0.01;-0.01	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.57021	0.2025	N	0.14661	0.345	0.80722	D	1	D	0.61697	0.99	D	0.64042	0.921	T	0.67650	-0.5616	10	0.72032	D	0.01	-41.0944	18.1918	0.89809	0.0:0.0:1.0:0.0	.	213	O15264	MK13_HUMAN	I	203;213;213	ENSP00000362866:M203I;ENSP00000211287:M213I	ENSP00000211287:M213I	M	+	3	0	MAPK13	36212662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.766000	0.98957	2.301000	0.77427	0.561000	0.74099	ATG		0.527	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			45	38	1	0	5.34e-22	7.58e-22	45	38				
DNAH8	1769	broad.mit.edu	37	6	38877379	38877379	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:38877379G>T	ENST00000359357.3	+	63	9202	c.8948G>T	c.(8947-8949)aGg>aTg	p.R2983M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R2947M|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3200M			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2983	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGCTGGCCAAGGGAGGCTCTG	0.448																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(8947-8949)AGG>ATG		dynein, axonemal, heavy polypeptide 8							138.0	128.0	131.0					6																	38877379		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38877379G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8948G>T	6.37:g.38877379G>T	ENSP00000352312:p.Arg2983Met					uc003oof.1_Intron	p.R2983M	NM_001371	NP_001362					63	9548	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.8948G>T		.	.	.	.	.	.	.	.	.	.	G	14.42	2.528837	0.44969	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.44482	0.92;0.92;0.92	5.6	0.212	0.15240	Dynein heavy chain, P-loop containing D4 domain (1);	0.320980	0.34853	N	0.003633	T	0.48660	0.1512	M	0.83483	2.645	0.31888	N	0.617511	P	0.39376	0.67	P	0.57548	0.823	T	0.54437	-0.8294	10	0.72032	D	0.01	.	11.3818	0.49761	0.5611:0.0:0.4389:0.0	.	2983	Q96JB1	DYH8_HUMAN	M	3188;3188;2983;2947	ENSP00000333363:R3188M;ENSP00000352312:R2983M;ENSP00000402294:R2947M	ENSP00000333363:R3188M	R	+	2	0	DNAH8	38985357	0.969000	0.33509	0.796000	0.32109	0.362000	0.29581	0.417000	0.21214	0.041000	0.15688	-0.345000	0.07892	AGG		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		63	49	1	0	3.83e-28	5.54e-28	63	49				
CDC5L	988	broad.mit.edu	37	6	44392275	44392275	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:44392275T>A	ENST00000371477.3	+	11	1823	c.1524T>A	c.(1522-1524)gaT>gaA	p.D508E		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	508	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGAAATAGATGATACTTACA	0.453																																						uc003oxl.2		NA																	0				lung(3)|ovary(1)|kidney(1)|skin(1)	6						c.(1522-1524)GAT>GAA		CDC5-like							118.0	101.0	107.0					6																	44392275		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44392275T>A	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1524T>A	6.37:g.44392275T>A	ENSP00000360532:p.Asp508Glu						p.D508E	NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1783	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		508			Interaction with PPP1R8.|Interaction with DAPK3 (By similarity).		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1524T>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	T	7.165	0.586541	0.13749	.	.	ENSG00000096401	ENST00000371477	T	0.41065	1.01	6.06	4.89	0.63831	.	0.089778	0.85682	D	0.000000	T	0.11495	0.0280	L	0.40543	1.245	0.48087	D	0.999585	B	0.02656	0.0	B	0.08055	0.003	T	0.16158	-1.0412	10	0.02654	T	1	-20.9224	8.4121	0.32648	0.0:0.1562:0.0:0.8438	.	508	Q99459	CDC5L_HUMAN	E	508	ENSP00000360532:D508E	ENSP00000360532:D508E	D	+	3	2	CDC5L	44500253	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.999000	0.29757	1.104000	0.41587	0.533000	0.62120	GAT		0.453	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	73	0	0	0	0	4	73				
RUNX2	860	broad.mit.edu	37	6	45405777	45405777	+	Missense_Mutation	SNP	G	G	T	rs104893991		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:45405777G>T	ENST00000371438.1	+	4	1032	c.674G>T	c.(673-675)cGg>cTg	p.R225L	RUNX2_ENST00000352853.5_Missense_Mutation_p.R293L|RUNX2_ENST00000359524.5_Missense_Mutation_p.R211L|RUNX2_ENST00000371432.3_Missense_Mutation_p.R211L|RUNX2_ENST00000371436.6_Missense_Mutation_p.R225L|RUNX2_ENST00000541979.1_Missense_Mutation_p.R293L|RUNX2_ENST00000465038.2_Missense_Mutation_p.R225L|RUNX2_ENST00000576263.1_Missense_Mutation_p.R225L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	225	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		R -> L (in CLCD). {ECO:0000269|PubMed:20648631}.|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding). {ECO:0000269|PubMed:10521292, ECO:0000269|PubMed:10545612, ECO:0000269|PubMed:11857736, ECO:0000269|PubMed:12196916, ECO:0000269|PubMed:16270353}.|R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation). {ECO:0000269|PubMed:10521292, ECO:0000269|PubMed:11857736, ECO:0000269|PubMed:12196916, ECO:0000269|PubMed:19744171}.		BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R225L(1)|p.R293L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGACCTCGGGAACCCAGA	0.413																																						uc011dvx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3	GRCh37	CM992614	RUNX2	M	rs104893991	c.(673-675)CGG>CTG		runt-related transcription factor 2 isoform a							126.0	128.0	127.0					6																	45405777		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45405777G>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.674G>T	6.37:g.45405777G>T	ENSP00000360493:p.Arg225Leu					RUNX2_uc011dvy.1_Missense_Mutation_p.R225L|RUNX2_uc003oxt.2_Missense_Mutation_p.R211L	p.R225L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			5	884	+			225		R -> W (in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation).|R -> L (in CLCD).|R -> Q (in CLCD; interferes with nuclear localization; abolishes DNA binding).	Runt.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.674G>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866129	0.51588	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	5.49	4.63	0.57726	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050872	0.85682	D	0.000000	D	0.99736	0.9896	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	0.995;0.996;1.0	D;D;D	0.91635	0.967;0.966;0.999	D	0.97180	0.9850	10	0.87932	D	0	-5.1022	14.7548	0.69554	0.0698:0.0:0.9302:0.0	.	293;225;211	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	L	225;293;293;225;225;211;211	ENSP00000420707:R225L;ENSP00000319087:R293L;ENSP00000446290:R293L;ENSP00000360493:R225L;ENSP00000360491:R225L;ENSP00000352514:R211L;ENSP00000360486:R211L	ENSP00000319087:R293L	R	+	2	0	RUNX2	45513755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.973000	0.88032	1.439000	0.47511	0.655000	0.94253	CGG		0.413	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		116	78	1	0	7.81e-50	1.17e-49	116	78				
FAM83B	222584	broad.mit.edu	37	6	54806055	54806055	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:54806055G>A	ENST00000306858.7	+	5	2402	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	762										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGGAAGTTAAGGGTTCCCCAA	0.378																																						uc003pck.2		NA																	0				ovary(6)	6						c.(2284-2286)AAG>AAA		hypothetical protein LOC222584							58.0	60.0	60.0					6																	54806055		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54806055G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2286G>A	6.37:g.54806055G>A							p.K762K	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2402	+	Lung NSC(77;0.0178)|Renal(3;0.122)		762					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.2286G>A	CCDS34479.1																																																																																				0.378	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		34	102	0	0	0	0	34	102				
FILIP1	27145	broad.mit.edu	37	6	76124636	76124636	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:76124636C>A	ENST00000237172.7	-	2	383	c.53G>T	c.(52-54)tGt>tTt	p.C18F	FILIP1_ENST00000393004.2_Missense_Mutation_p.C18F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	18										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGGCTTGGGACAGGAGATATG	0.423																																						uc003pia.2		NA																	0				skin(3)|ovary(1)	4						c.(52-54)TGT>TTT		filamin A interacting protein 1							181.0	165.0	170.0					6																	76124636		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124636C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.53G>T	6.37:g.76124636C>A	ENSP00000237172:p.Cys18Phe					FILIP1_uc003phy.1_Missense_Mutation_p.C18F|FILIP1_uc010kbe.2_Missense_Mutation_p.C21F	p.C18F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			2	426	-			18					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.53G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	6.795	0.515657	0.12944	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.17054	2.3;2.3	5.57	5.57	0.84162	.	0.506566	0.24033	N	0.042170	T	0.05640	0.0148	N	0.24115	0.695	0.44834	D	0.997849	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.10823	-1.0613	10	0.52906	T	0.07	-0.5817	10.0741	0.42349	0.0:0.8512:0.0:0.1488	.	18;18;18	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	18	ENSP00000376728:C18F;ENSP00000237172:C18F	ENSP00000237172:C18F	C	-	2	0	FILIP1	76181356	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	1.869000	0.39519	2.621000	0.88768	0.650000	0.86243	TGT		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		62	78	1	0	1.08e-31	1.57e-31	62	78				
PHIP	55023	broad.mit.edu	37	6	79770397	79770397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:79770397G>T	ENST00000275034.4	-	5	495	c.328C>A	c.(328-330)Cgc>Agc	p.R110S		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	110					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTATTTGTGCGTAGTAAAGAC	0.318																																						uc003pir.2		NA																	0				large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(328-330)CGC>AGC		pleckstrin homology domain interacting protein							64.0	68.0	67.0					6																	79770397		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79770397G>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.328C>A	6.37:g.79770397G>T	ENSP00000275034:p.Arg110Ser					PHIP_uc011dyp.1_Missense_Mutation_p.R110S	p.R110S	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	5	554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	110					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.328C>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.304936	0.81247	.	.	ENSG00000146247	ENST00000275034	T	0.31247	1.5	5.88	5.88	0.94601	.	0.070853	0.64402	D	0.000013	T	0.42245	0.1194	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.987;0.987	T	0.12218	-1.0556	9	.	.	.	-6.1582	14.0746	0.64882	0.0:0.0:0.8495:0.1505	.	110;110	A7J992;Q8WWQ0	.;PHIP_HUMAN	S	110	ENSP00000275034:R110S	.	R	-	1	0	PHIP	79827116	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.230000	0.95299	2.784000	0.95788	0.591000	0.81541	CGC		0.318	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			33	38	1	0	1.75e-11	2.23e-11	33	38				
CNR1	1268	broad.mit.edu	37	6	88854007	88854007	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:88854007C>T	ENST00000537554.1	-	2	4549	c.987G>A	c.(985-987)gtG>gtA	p.V329V	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.V329V|CNR1_ENST00000369501.2_Silent_p.V329V|CNR1_ENST00000549716.1_Silent_p.V268V|CNR1_ENST00000468898.1_Silent_p.V296V|CNR1_ENST00000535130.1_Silent_p.V329V|CNR1_ENST00000428600.2_Silent_p.V329V|CNR1_ENST00000549890.1_Silent_p.V329V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	329					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CTGGCCGGGTCACCTGTACCT	0.567																																						uc011dzq.1		NA																	0				skin(2)	2						c.(985-987)GTG>GTA		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						149.0	151.0	151.0					6																	88854007		2203	4300	6503	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854007C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.987G>A	6.37:g.88854007C>T						CNR1_uc010kbz.2_Silent_p.V329V|CNR1_uc011dzr.1_Silent_p.V329V|CNR1_uc011dzs.1_Silent_p.V329V|CNR1_uc003pmq.3_Silent_p.V329V|CNR1_uc011dzt.1_Silent_p.V329V|CNR1_uc010kca.2_Silent_p.V296V	p.V329V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4550	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	329			Cytoplasmic (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.987G>A	CCDS5015.1																																																																																				0.567	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			53	68	0	0	0	0	53	68				
DCBLD1	285761	broad.mit.edu	37	6	117825024	117825024	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:117825024A>G	ENST00000338728.5	+	2	327	c.207A>G	c.(205-207)gaA>gaG	p.E69E	DCBLD1_ENST00000368503.4_Silent_p.E69E|DCBLD1_ENST00000296955.8_Silent_p.E69E|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	69	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTGTTTGCGAAAAGACAATTA	0.453																																						uc003pxs.2		NA																	0				ovary(1)	1						c.(205-207)GAA>GAG		discoidin, CUB and LCCL domain containing 1							137.0	133.0	134.0					6																	117825024		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117825024A>G	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.207A>G	6.37:g.117825024A>G						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.E69E	p.E69E	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	2	332	+		all_cancers(87;0.171)	69			CUB.|Extracellular (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.207A>G																																																																																					0.453	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		42	235	0	0	0	0	42	235				
SLC35F1	222553	broad.mit.edu	37	6	118635271	118635271	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:118635271C>A	ENST00000360388.4	+	8	1284	c.1083C>A	c.(1081-1083)gcC>gcA	p.A361A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	361					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTACATAGCCCAGGACCCCC	0.507																																						uc003pxx.3		NA																	0				breast(1)	1						c.(1081-1083)GCC>GCA		solute carrier family 35, member F1							174.0	154.0	161.0					6																	118635271		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118635271C>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1083C>A	6.37:g.118635271C>A						SLC35F1_uc003pxy.1_Silent_p.A166A	p.A361A	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1284	+			361					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.1083C>A	CCDS34524.1																																																																																				0.507	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		48	262	1	0	6.3e-33	9.23e-33	48	262				
HDDC2	51020	broad.mit.edu	37	6	125614026	125614026	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:125614026T>A	ENST00000398153.2	-	4	381	c.339A>T	c.(337-339)ctA>ctT	p.L113L	HDDC2_ENST00000608295.1_Intron|HDDC2_ENST00000368377.4_Silent_p.L79L	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	113	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GGTCCTCTGGTAGGAGCTGGG	0.353																																						uc003qaa.1		NA																	0					0						c.(337-339)CTA>CTT		HD domain containing 2							144.0	139.0	141.0					6																	125614026		1827	4087	5914	SO:0001819	synonymous_variant	51020						metal ion binding|phosphoric diester hydrolase activity	g.chr6:125614026T>A	AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 74"""	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.339A>T	6.37:g.125614026T>A						HDDC2_uc003qab.1_RNA	p.L113L	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)	4	543	-			113			HD.		Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Silent	SNP	ENST00000398153.2	37	c.339A>T	CCDS43503.1																																																																																				0.353	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472493.1	NM_016063		170	136	0	0	0	0	170	136				
NCOA7	135112	broad.mit.edu	37	6	126210575	126210575	+	Missense_Mutation	SNP	G	G	T	rs138843029		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:126210575G>T	ENST00000368357.3	+	10	1727	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	NCOA7_ENST00000229634.9_Missense_Mutation_p.V344L|NCOA7_ENST00000392477.2_Missense_Mutation_p.V459L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	459					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CAATTCTGCCGTGGAAATGCA	0.453																																						uc010kes.2		NA																	0				lung(2)|ovary(1)	3						c.(1375-1377)GTG>TTG		nuclear receptor coactivator 7 isoform 1							61.0	65.0	64.0					6																	126210575		2200	4297	6497	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210575G>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1375G>T	6.37:g.126210575G>T	ENSP00000357341:p.Val459Leu					NCOA7_uc003qae.3_Missense_Mutation_p.V459L|NCOA7_uc003qah.2_Missense_Mutation_p.V448L|NCOA7_uc003qai.2_Missense_Mutation_p.V459L|NCOA7_uc010ket.2_Missense_Mutation_p.V344L	p.V459L	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1824	+			459					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1375G>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.324637	0.01309	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.28666	2.82;2.82;2.82;1.6	5.28	-3.83	0.04269	.	1.257310	0.05169	N	0.499163	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.35001	-0.9806	10	0.27082	T	0.32	-16.4873	7.9904	0.30237	0.5049:0.0:0.3885:0.1066	.	448;448;459	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	L	459;459;344;257	ENSP00000357341:V459L;ENSP00000376269:V459L;ENSP00000229634:V344L;ENSP00000389186:V257L	ENSP00000229634:V344L	V	+	1	0	NCOA7	126252268	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.234000	0.09028	-0.337000	0.08426	-0.290000	0.09829	GTG		0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		41	162	1	0	1.75e-18	2.4e-18	41	162				
MED23	9439	broad.mit.edu	37	6	131946091	131946091	+	Silent	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:131946091A>G	ENST00000368068.3	-	4	377	c.198T>C	c.(196-198)ttT>ttC	p.F66F	MED23_ENST00000540546.1_Silent_p.F66F|MED23_ENST00000403834.3_Silent_p.F66F|MED23_ENST00000368060.3_Silent_p.F66F|MED23_ENST00000539158.1_Silent_p.F66F|MED23_ENST00000368053.4_Silent_p.F66F|MED23_ENST00000368058.1_Silent_p.F66F|MED23_ENST00000354577.4_Silent_p.F66F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	66					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GACCATGAATAAACTTAACAA	0.378																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(196-198)TTT>TTC		mediator complex subunit 23 isoform a							97.0	98.0	97.0					6																	131946091		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131946091A>G	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.198T>C	6.37:g.131946091A>G						MED23_uc003qcq.2_Silent_p.F66F|MED23_uc003qct.1_Silent_p.F66F|MED23_uc011ecb.1_RNA	p.F66F	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	4	372	-	Breast(56;0.0753)		66					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.198T>C	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			39	190	0	0	0	0	39	190				
UTRN	7402	broad.mit.edu	37	6	144779941	144779941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:144779941G>T	ENST00000367545.3	+	19	2320	c.2320G>T	c.(2320-2322)Gag>Tag	p.E774*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	774	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAATGTTCTGGAGAAGGTTTC	0.328																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2320-2322)GAG>TAG		utrophin							61.0	68.0	66.0					6																	144779941		2202	4300	6502	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144779941G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2320G>T	6.37:g.144779941G>T	ENSP00000356515:p.Glu774*					UTRN_uc010khq.1_Nonsense_Mutation_p.E774*	p.E774*	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	19	2412	+		Ovarian(120;0.218)	774			Interaction with SYNM.|Spectrin 5.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.2320G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.295984	0.98747	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.8304	0.96632	0.0:0.0:1.0:0.0	.	.	.	.	X	774	.	ENSP00000356499:E774X	E	+	1	0	UTRN	144821634	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.933000	0.75874	2.775000	0.95449	0.585000	0.79938	GAG		0.328	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			123	110	1	0	1e-38	1.49e-38	123	110				
SYNE1	23345	broad.mit.edu	37	6	152469434	152469434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152469434T>A	ENST00000367255.5	-	137	25323	c.24722A>T	c.(24721-24723)cAc>cTc	p.H8241L	SYNE1_ENST00000423061.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000448038.1_Missense_Mutation_p.H8170L|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7853L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.H396L|SYNE1_ENST00000539504.1_Missense_Mutation_p.H396L|SYNE1_ENST00000265368.4_Missense_Mutation_p.H8241L|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2765L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8241					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)		AGAGCGGTCGTGCCAGTGCAG	0.617										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.(24721-24723)CAC>CTC		spectrin repeat containing, nuclear envelope 1							70.0	72.0	71.0					6																	152469434		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.chr6:152469434T>A	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.24722A>T	6.37:g.152469434T>A	ENSP00000356224:p.His8241Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.H2765L|SYNE1_uc003qos.3_Missense_Mutation_p.H2765L|SYNE1_uc003qot.3_Missense_Mutation_p.H8170L|SYNE1_uc003qou.3_Missense_Mutation_p.H8241L|SYNE1_uc003qop.3_Missense_Mutation_p.H403L|SYNE1_uc011eez.1_Missense_Mutation_p.H443L|SYNE1_uc003qoq.3_Missense_Mutation_p.H443L|SYNE1_uc003qor.3_Missense_Mutation_p.H1141L	p.H8241L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25324	-		Ovarian(120;0.0955)	8241			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.24722A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722206	0.30503	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.53640	0.68;4.74;1.6;0.65;0.61;0.66;0.79;2.69;1.73;4.75	5.25	-0.314	0.12750	.	0.580587	0.15581	N	0.254949	T	0.16557	0.0398	M	0.65498	2.005	0.28844	N	0.896451	B;B;B;B;B	0.21753	0.036;0.036;0.06;0.036;0.0	B;B;B;B;B	0.23574	0.013;0.013;0.047;0.021;0.001	T	0.31308	-0.9948	10	0.08837	T	0.75	.	5.651	0.17616	0.0:0.1406:0.2644:0.595	.	8241;8241;8170;8170;443	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	L	8241;396;887;8170;8241;8170;7853;2765;403;398;1163;396	ENSP00000356224:H8241L;ENSP00000441052:H396L;ENSP00000356226:H887L;ENSP00000396024:H8170L;ENSP00000265368:H8241L;ENSP00000390975:H8170L;ENSP00000341887:H7853L;ENSP00000349276:H2765L;ENSP00000356220:H1163L;ENSP00000346701:H396L	ENSP00000265368:H8241L	H	-	2	0	SYNE1	152511127	0.144000	0.22641	0.189000	0.23252	0.644000	0.38419	0.507000	0.22675	0.016000	0.14998	0.533000	0.62120	CAC		0.617	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	75	0	0	0	0	32	75				
SYNE1	23345	broad.mit.edu	37	6	152623106	152623106	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152623106G>A	ENST00000367255.5	-	92	18040	c.17439C>T	c.(17437-17439)acC>acT	p.T5813T	SYNE1_ENST00000423061.1_Silent_p.T5742T|SYNE1_ENST00000448038.1_Silent_p.T5742T|SYNE1_ENST00000341594.5_Silent_p.T5425T|SYNE1_ENST00000265368.4_Silent_p.T5813T|SYNE1_ENST00000356820.4_Silent_p.T337T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5813					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)		TCAGCAGCATGGTGGCGTGCT	0.597										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.(17437-17439)ACC>ACT		spectrin repeat containing, nuclear envelope 1							84.0	80.0	81.0					6																	152623106		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152623106G>A	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.17439C>T	6.37:g.152623106G>A		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.T337T|SYNE1_uc003qos.3_Silent_p.T337T|SYNE1_uc003qot.3_Silent_p.T5742T|SYNE1_uc003qou.3_Silent_p.T5813T|SYNE1_uc010kiy.1_Silent_p.T35T	p.T5813T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	92	18041	-		Ovarian(120;0.0955)	5813			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.17439C>T	CCDS5236.2																																																																																				0.597	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	110	0	0	0	0	28	110				
SYNE1	23345	broad.mit.edu	37	6	152665308	152665308	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152665308G>T	ENST00000367255.5	-	74	12734	c.12133C>A	c.(12133-12135)Ctg>Atg	p.L4045M	SYNE1_ENST00000423061.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3974M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3910M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4045M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4045					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)		CACTGCTGCAGGGTGTCTTGT	0.493										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.(12133-12135)CTG>ATG		spectrin repeat containing, nuclear envelope 1							132.0	127.0	128.0					6																	152665308		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.chr6:152665308G>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.12133C>A	6.37:g.152665308G>T	ENSP00000356224:p.Leu4045Met	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L3974M|SYNE1_uc003qou.3_Missense_Mutation_p.L4045M|SYNE1_uc010kja.1_Missense_Mutation_p.L750M	p.L4045M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12735	-		Ovarian(120;0.0955)	4045			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.12133C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986351	0.53934	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.86	4.04	0.47022	.	0.000000	0.48767	D	0.000165	T	0.45498	0.1345	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.45848	-0.9233	10	0.49607	T	0.09	.	11.1418	0.48406	0.1999:0.0:0.8001:0.0	.	4045;4045;4045;3974	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	4045;3974;4045;3974;3910	ENSP00000356224:L4045M;ENSP00000396024:L3974M;ENSP00000265368:L4045M;ENSP00000390975:L3974M;ENSP00000341887:L3910M	ENSP00000265368:L4045M	L	-	1	2	SYNE1	152707001	1.000000	0.71417	0.916000	0.36221	0.998000	0.95712	2.975000	0.49281	1.592000	0.50018	0.650000	0.86243	CTG		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		111	84	1	0	1.47e-32	2.15e-32	111	84				
SYNE1	23345	broad.mit.edu	37	6	152673332	152673332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152673332C>G	ENST00000367255.5	-	70	12011	c.11410G>C	c.(11410-11412)Gtc>Ctc	p.V3804L	SYNE1_ENST00000423061.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3789L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3775L|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3804L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3804					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)		TCTTTCCGGACAGTGCTGGTC	0.453										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.(11410-11412)GTC>CTC		spectrin repeat containing, nuclear envelope 1							250.0	229.0	236.0					6																	152673332		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.chr6:152673332C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11410G>C	6.37:g.152673332C>G	ENSP00000356224:p.Val3804Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.V3789L|SYNE1_uc003qou.3_Missense_Mutation_p.V3804L|SYNE1_uc010kja.1_Missense_Mutation_p.V509L	p.V3804L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	12012	-		Ovarian(120;0.0955)	3804			Cytoplasmic (Potential).|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.11410G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.799	1.180080	0.21787	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	6.04	4.29	0.51040	.	0.249276	0.28072	N	0.016712	T	0.06826	0.0174	L	0.27053	0.805	0.49483	D	0.999797	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.003;0.003;0.003;0.004	T	0.17258	-1.0375	10	0.21014	T	0.42	.	4.0755	0.09902	0.1694:0.5772:0.0:0.2534	.	3804;3804;3804;3789	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	3804;3789;3804;3789;3775	ENSP00000356224:V3804L;ENSP00000396024:V3789L;ENSP00000265368:V3804L;ENSP00000390975:V3789L;ENSP00000341887:V3775L	ENSP00000265368:V3804L	V	-	1	0	SYNE1	152715025	0.976000	0.34144	0.231000	0.23993	0.758000	0.43043	2.570000	0.45981	0.908000	0.36671	-0.224000	0.12420	GTC		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		204	184	0	0	0	0	204	184				
SYNE1	23345	broad.mit.edu	37	6	152690250	152690250	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152690250C>G	ENST00000367255.5	-	61	10265	c.9664G>C	c.(9664-9666)Gaa>Caa	p.E3222Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3229Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3261Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3222Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3222					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)		CAGTGTATTTCCTCAAGGACA	0.502										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.(9664-9666)GAA>CAA		spectrin repeat containing, nuclear envelope 1							75.0	64.0	67.0					6																	152690250		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.chr6:152690250C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9664G>C	6.37:g.152690250C>G	ENSP00000356224:p.Glu3222Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E3229Q|SYNE1_uc003qou.3_Missense_Mutation_p.E3222Q|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.E300Q	p.E3222Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	61	10266	-		Ovarian(120;0.0955)	3222			Spectrin 6.|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.9664G>C	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.948745|4.948745	0.92660|0.92660	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.090217|.	0.47852|.	D|.	0.000205|.	T|T	0.56848|0.56848	0.2013|0.2013	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999|.	T|T	0.52147|0.52147	-0.8614|-0.8614	10|5	0.54805|.	T|.	0.06|.	.|.	19.7763|19.7763	0.96395|0.96395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3222;339;3222;3229|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	Q|S	3222;3229;3222;3229;3261|338	ENSP00000356224:E3222Q;ENSP00000396024:E3229Q;ENSP00000265368:E3222Q;ENSP00000390975:E3229Q;ENSP00000341887:E3261Q|.	ENSP00000265368:E3222Q|.	E|R	-|-	1|3	0|2	SYNE1|SYNE1	152731943|152731943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GAA|AGG		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	93	0	0	0	0	4	93				
SYNE1	23345	broad.mit.edu	37	6	152757237	152757237	+	Splice_Site	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:152757237C>A	ENST00000367255.5	-	33	4751		c.e33-1		SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		TAGAAAACTCCTAGAAAAAAT	0.398										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.e33-1		spectrin repeat containing, nuclear envelope 1							66.0	64.0	65.0					6																	152757237		2203	4300	6503	SO:0001630	splice_region_variant	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.chr6:152757237C>A	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.4150-1G>T	6.37:g.152757237C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.E1391_splice|SYNE1_uc003qou.3_Splice_Site_p.E1384_splice|SYNE1_uc010kjb.1_Splice_Site_p.E1367_splice|SYNE1_uc003qow.2_Splice_Site_p.E679_splice|SYNE1_uc003qox.1_Intron	p.E1384_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4752	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.4150_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459520	0.63401	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152798930	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.622000	0.74233	2.805000	0.96524	0.460000	0.39030	.		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	88	65	1	0	1.67e-50	2.51e-50	88	65				
ARID1B	57492	broad.mit.edu	37	6	157469762	157469762	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157469762C>G	ENST00000350026.5	+	8	2518	c.2517C>G	c.(2515-2517)aaC>aaG	p.N839K	ARID1B_ENST00000367148.1_Missense_Mutation_p.N839K|ARID1B_ENST00000346085.5_Missense_Mutation_p.N852K|ARID1B_ENST00000275248.4_Missense_Mutation_p.N781K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	839					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTTAGGTAACTACTCCAGAC	0.473																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(2341-2343)AAC>AAG		AT rich interactive domain 1B (SWI1-like)							74.0	69.0	70.0					6																	157469762		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157469762C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2517C>G	6.37:g.157469762C>G	ENSP00000055163:p.Asn839Lys					ARID1B_uc003qqo.2_Missense_Mutation_p.N794K|ARID1B_uc003qqp.2_Missense_Mutation_p.N781K|ARID1B_uc003qqq.1_Missense_Mutation_p.N223K|ARID1B_uc010kjl.2_5'UTR	p.N781K	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2495	+		Breast(66;0.000162)|Ovarian(120;0.0265)	839					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2343C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906000	0.72868	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.46	5.46	0.80206	.	0.047828	0.85682	D	0.000000	T	0.25005	0.0607	L	0.34521	1.04	0.58432	D	0.999999	D;P;P;P	0.67145	0.996;0.748;0.837;0.837	P;B;B;B	0.61533	0.89;0.255;0.439;0.439	T	0.00880	-1.1529	10	0.40728	T	0.16	.	12.9671	0.58490	0.0:0.926:0.0:0.074	.	223;839;852;781	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	K	852;839;839;781;256;223;308;261	ENSP00000344546:N852K;ENSP00000055163:N839K;ENSP00000356116:N839K;ENSP00000275248:N781K;ENSP00000412835:N308K;ENSP00000313006:N261K	ENSP00000275248:N781K	N	+	3	2	ARID1B	157511454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.206000	0.58473	2.706000	0.92434	0.655000	0.94253	AAC		0.473	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		53	286	0	0	0	0	53	286				
THSD7A	221981	broad.mit.edu	37	7	11675973	11675973	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:11675973C>A	ENST00000423059.4	-	2	1057	c.806G>T	c.(805-807)cGa>cTa	p.R269L	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	269					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)		TCTTACTTGTCGGGAGTGGGG	0.557										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(805-807)CGA>CTA		thrombospondin, type I, domain containing 7A							96.0	95.0	95.0					7																	11675973		1973	4146	6119	SO:0001583	missense	221981					integral to membrane		g.chr7:11675973C>A		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.806G>T	7.37:g.11675973C>A	ENSP00000406482:p.Arg269Leu	HNSCC(18;0.044)					p.R269L	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1058	-			269			Extracellular (Potential).|Potential.			Missense_Mutation	SNP	ENST00000423059.4	37	c.806G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427810	0.62733	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59638	0.25	5.62	5.62	0.85841	.	0.044035	0.85682	D	0.000000	T	0.71533	0.3351	L	0.59436	1.845	0.39501	D	0.9682	D	0.56746	0.977	P	0.62298	0.9	T	0.66901	-0.5806	10	0.30078	T	0.28	.	20.0333	0.97547	0.0:1.0:0.0:0.0	.	269	Q9UPZ6	THS7A_HUMAN	L	269	ENSP00000406482:R269L	ENSP00000262042:R269L	R	-	2	0	THSD7A	11642498	0.578000	0.26717	0.021000	0.16686	0.138000	0.21146	5.837000	0.69381	2.810000	0.96702	0.585000	0.79938	CGA		0.557	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		52	104	1	0	2.73e-35	4.02e-35	52	104				
ITGB8	3696	broad.mit.edu	37	7	20449331	20449331	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:20449331A>T	ENST00000222573.4	+	13	2801	c.2117A>T	c.(2116-2118)cAg>cTg	p.Q706L	ITGB8_ENST00000537992.1_Missense_Mutation_p.Q571L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	706					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATCATTAGACAGGTGATACTA	0.338																																						uc003suu.2		NA																	0				skin(3)	3						c.(2116-2118)CAG>CTG		integrin, beta 8 precursor							104.0	108.0	107.0					7																	20449331		2203	4297	6500	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20449331A>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.2117A>T	7.37:g.20449331A>T	ENSP00000222573:p.Gln706Leu					ITGB8_uc011jyh.1_Missense_Mutation_p.Q571L	p.Q706L	NM_002214	NP_002205	P26012	ITB8_HUMAN			13	2822	+			706			Cytoplasmic (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.2117A>T	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	6.016	0.371392	0.11409	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.50277	0.75;0.75	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	T	0.31827	0.0809	N	0.02011	-0.69	0.58432	D	0.999997	D	0.57257	0.979	P	0.54270	0.747	T	0.35748	-0.9776	10	0.02654	T	1	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	706	P26012	ITB8_HUMAN	L	571;706	ENSP00000441561:Q571L;ENSP00000222573:Q706L	ENSP00000222573:Q706L	Q	+	2	0	ITGB8	20415856	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.414000	0.73318	2.324000	0.78689	0.533000	0.62120	CAG		0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		57	127	0	0	0	0	57	127				
KLHL7	55975	broad.mit.edu	37	7	23205333	23205333	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:23205333A>G	ENST00000339077.5	+	8	1196	c.953A>G	c.(952-954)gAc>gGc	p.D318G	KLHL7_ENST00000322231.7_Missense_Mutation_p.D296G|KLHL7_ENST00000542558.1_Missense_Mutation_p.D93G|KLHL7_ENST00000409689.1_Missense_Mutation_p.D270G|KLHL7_ENST00000545443.1_Missense_Mutation_p.D296G|KLHL7_ENST00000539124.1_Missense_Mutation_p.D242G	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	318					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGGACAGACATCCGCTGC	0.403																																						uc003svs.3		NA																	0					0						c.(952-954)GAC>GGC		kelch-like 7 isoform 1							60.0	62.0	62.0					7																	23205333		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23205333A>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.953A>G	7.37:g.23205333A>G	ENSP00000343273:p.Asp318Gly					KLHL7_uc003svr.3_Missense_Mutation_p.D296G|KLHL7_uc011jys.1_Missense_Mutation_p.D242G|KLHL7_uc011jyt.1_Missense_Mutation_p.D93G|KLHL7_uc003svt.2_Missense_Mutation_p.D270G|KLHL7_uc011jyv.1_Missense_Mutation_p.D93G	p.D318G	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN			8	1246	+			318			Kelch 1.		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.953A>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831321	0.50845	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.72	5.72	0.89469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	L	0.40543	1.245	0.80722	D	1	B;P;P	0.46220	0.257;0.653;0.874	B;B;P	0.48921	0.117;0.233;0.595	T	0.62770	-0.6784	10	0.25751	T	0.34	.	16.0151	0.80430	1.0:0.0:0.0:0.0	.	93;318;296	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	G	159;284;296;318;242;93;270;296	ENSP00000322958:D296G;ENSP00000343273:D318G;ENSP00000441136:D242G;ENSP00000442367:D93G;ENSP00000386263:D270G;ENSP00000442366:D296G	ENSP00000322958:D296G	D	+	2	0	KLHL7	23171858	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.183000	0.69458	0.377000	0.23210	GAC		0.403	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		26	52	0	0	0	0	26	52				
ANLN	54443	broad.mit.edu	37	7	36478884	36478884	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:36478884A>T	ENST00000265748.2	+	21	3176	c.2955A>T	c.(2953-2955)gaA>gaT	p.E985D	ANLN_ENST00000396068.2_Missense_Mutation_p.E948D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	985	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CCAGTGTTGAAGAAAGAGGTT	0.308																																						uc003tff.2		NA																	0				ovary(2)|skin(1)	3						c.(2953-2955)GAA>GAT		anillin, actin binding protein							81.0	79.0	79.0					7																	36478884		2195	4291	6486	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36478884A>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2955A>T	7.37:g.36478884A>T	ENSP00000265748:p.Glu985Asp					ANLN_uc011kaz.1_Missense_Mutation_p.E897D|ANLN_uc003tfg.2_Missense_Mutation_p.E948D|ANLN_uc010kxe.2_Missense_Mutation_p.E947D	p.E985D	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN			21	3159	+			985			PH.|Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2955A>T	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	15.52|15.52|15.52	2.858517|2.858517|2.858517	0.51376|0.51376|0.51376	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000265748;ENST00000396068|ENST00000457743|ENST00000428612	T;T|.|.	0.15718|.|.	2.4;2.45|.|.	5.16|5.16|5.16	2.72|2.72|2.72	0.32119|0.32119|0.32119	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.49695|0.49695|.	0.1572|0.1572|.	L|L|L	0.39020|0.39020|0.39020	1.185|1.185|1.185	0.51767|0.51767|0.51767	D|D|D	0.999939|0.999939|0.999939	P;P;P;P|.|.	0.50369|.|.	0.92;0.934;0.919;0.934|.|.	P;P;P;P|.|.	0.53146|.|.	0.565;0.719;0.597;0.719|.|.	T|T|.	0.29150|0.29150|.	-1.0021|-1.0021|.	10|5|.	0.38643|.|.	T|.|.	0.18|.|.	-12.3942|-12.3942|-12.3942	7.419|7.419|7.419	0.27061|0.27061|0.27061	0.6605:0.0:0.3395:0.0|0.6605:0.0:0.3395:0.0|0.6605:0.0:0.3395:0.0	.|.|.	862;947;948;985|.|.	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.|.	.;.;.;ANLN_HUMAN|.|.	D|M|X	985;948|207|150	ENSP00000265748:E985D;ENSP00000379380:E948D|.|.	ENSP00000265748:E985D|.|.	E|K|R	+|+|+	3|2|1	2|0|2	ANLN|ANLN|ANLN	36445409|36445409|36445409	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	0.899000|0.899000|0.899000	0.28417|0.28417|0.28417	0.348000|0.348000|0.348000	0.23949|0.23949|0.23949	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAA|AAG|AGA		0.308	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		16	28	0	0	0	0	16	28				
AMPH	273	broad.mit.edu	37	7	38505100	38505100	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:38505100G>C	ENST00000356264.2	-	9	931	c.716C>G	c.(715-717)gCc>gGc	p.A239G	AMPH_ENST00000325590.5_Missense_Mutation_p.A239G|AMPH_ENST00000428293.2_Missense_Mutation_p.A239G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	239	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCCTTGTCGGCGTGCTGGTC	0.507																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(715-717)GCC>GGC		amphiphysin isoform 1							73.0	57.0	63.0					7																	38505100		2203	4298	6501	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38505100G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.716C>G	7.37:g.38505100G>C	ENSP00000348602:p.Ala239Gly					AMPH_uc003tgv.2_Missense_Mutation_p.A239G|AMPH_uc003tgt.2_5'Flank	p.A239G	NM_001635	NP_001626	P49418	AMPH_HUMAN			9	785	-			239			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.716C>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169239	0.21621	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.49139	0.79;0.79;0.79	5.87	5.87	0.94306	BAR (1);	0.108239	0.64402	D	0.000004	T	0.25494	0.0620	N	0.05078	-0.115	0.50813	D	0.999893	P;P	0.35894	0.467;0.526	B;B	0.31442	0.13;0.091	T	0.17471	-1.0368	10	0.07030	T	0.85	-24.2846	18.7629	0.91860	0.0:0.0:1.0:0.0	.	239;239	P49418-2;P49418	.;AMPH_HUMAN	G	239;239;239;9;239	ENSP00000317441:A239G;ENSP00000348602:A239G;ENSP00000390734:A239G	ENSP00000317441:A239G	A	-	2	0	AMPH	38471625	1.000000	0.71417	0.608000	0.28969	0.974000	0.67602	8.102000	0.89548	2.941000	0.99782	0.655000	0.94253	GCC		0.507	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		7	5	0	0	0	0	7	5				
HECW1	23072	broad.mit.edu	37	7	43400528	43400528	+	Silent	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:43400528G>T	ENST00000395891.2	+	6	1109	c.504G>T	c.(502-504)ggG>ggT	p.G168G	HECW1_ENST00000453890.1_Silent_p.G168G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGTGAGTGGGGCCCTGCGAG	0.478																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(502-504)GGG>GGT		NEDD4-like ubiquitin-protein ligase 1							107.0	112.0	111.0					7																	43400528		1957	4130	6087	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43400528G>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.504G>T	7.37:g.43400528G>T						HECW1_uc011kbi.1_Silent_p.G168G|HECW1_uc003tie.1_Silent_p.G200G	p.G168G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			6	1109	+			168					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.504G>T	CCDS5469.2																																																																																				0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		28	91	1	0	5.46e-16	7.32e-16	28	91				
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:53103940C>T	ENST00000408890.4	+	1	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701																																						uc003tpz.2		NA																	0					0						c.(574-576)TTC>TTT		POM121 membrane glycoprotein-like 12							45.0	52.0	50.0					7																	53103940		1958	4139	6097	SO:0001819	synonymous_variant	285877							g.chr7:53103940C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.576C>T	7.37:g.53103940C>T							p.F192F	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	592	+			192					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.576C>T	CCDS43584.1																																																																																				0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		25	63	0	0	0	0	25	63				
CACNA2D1	781	broad.mit.edu	37	7	81693671	81693671	+	Splice_Site	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:81693671C>G	ENST00000356253.5	-	9	984		c.e9-1		CACNA2D1_ENST00000356860.3_Splice_Site|CACNA2D1_ENST00000423588.1_Splice_Site			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1						calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTGGATGTACCTGAAACAAAT	0.323																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.e9-1		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						77.0	75.0	75.0					7																	81693671		2202	4298	6500	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81693671C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.729-1G>C	7.37:g.81693671C>G							p.W243_splice	NM_000722	NP_000713	P54289	CA2D1_HUMAN			9	985	-								Q17R45|Q9UD80|Q9UD81|Q9UD82	Splice_Site	SNP	ENST00000356253.5	37	c.729_splice		.	.	.	.	.	.	.	.	.	.	C	23.2	4.389877	0.82902	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4859	0.87688	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D1	81531607	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.186000	0.77722	2.658000	0.90341	0.650000	0.86243	.		0.323	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Intron	24	63	0	0	0	0	24	63				
DLX5	1749	broad.mit.edu	37	7	96650315	96650315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:96650315C>T	ENST00000222598.4	-	3	1076	c.603G>A	c.(601-603)atG>atA	p.M201I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	201					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCTCCGGGGGCATCTCCCCGT	0.577																																						uc003uon.2		NA																	0				ovary(1)	1						c.(601-603)ATG>ATA		distal-less homeobox 5							74.0	77.0	76.0					7																	96650315		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650315C>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.603G>A	7.37:g.96650315C>T	ENSP00000222598:p.Met201Ile						p.M201I	NM_005221	NP_005212	P56178	DLX5_HUMAN			3	811	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		201					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.603G>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	3.370	-0.128590	0.06753	.	.	ENSG00000105880	ENST00000222598	D	0.88664	-2.41	5.08	5.08	0.68730	Homeodomain-like (1);	0.051950	0.85682	D	0.000000	T	0.78767	0.4335	N	0.05199	-0.095	0.44547	D	0.9975	B	0.02656	0.0	B	0.06405	0.002	T	0.72187	-0.4366	10	0.23891	T	0.37	-8.319	18.6767	0.91531	0.0:1.0:0.0:0.0	.	201	P56178	DLX5_HUMAN	I	201	ENSP00000222598:M201I	ENSP00000222598:M201I	M	-	3	0	DLX5	96488251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.626000	0.61269	2.640000	0.89533	0.655000	0.94253	ATG		0.577	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			23	63	0	0	0	0	23	63				
GIGYF1	64599	broad.mit.edu	37	7	100280797	100280797	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100280797C>G	ENST00000275732.5	-	19	3459	c.2250G>C	c.(2248-2250)gtG>gtC	p.V750V	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	750					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGCGGGGGGCACAGGGACCG	0.677																																						uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2248-2250)GTG>GTC		PERQ amino acid rich, with GYF domain 1							11.0	15.0	13.0					7																	100280797		2191	4282	6473	SO:0001819	synonymous_variant	64599							g.chr7:100280797C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2250G>C	7.37:g.100280797C>G							p.V750V	NM_022574	NP_072096	O75420	PERQ1_HUMAN			19	3259	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		750					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.2250G>C	CCDS34708.1																																																																																				0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	18	0	0	0	0	8	18				
ZAN	7455	broad.mit.edu	37	7	100377308	100377308	+	RNA	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:100377308C>A	ENST00000348028.3	+	0	6722				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCTGCAAGCCTTCGGGGCCA	0.642																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6556-6558)GCC>GCA		zonadhesin isoform 3							18.0	20.0	20.0					7																	100377308		1894	4097	5991			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100377308C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377308C>A						ZAN_uc003uwk.2_Silent_p.A2186A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron	p.A2186A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		36	6723	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2186			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.6558C>A																																																																																					0.642	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	8	1	0	0.004672	0.00495827	3	8				
RELN	5649	broad.mit.edu	37	7	103290782	103290782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:103290782G>T	ENST00000428762.1	-	16	2100	c.1941C>A	c.(1939-1941)aaC>aaA	p.N647K	RELN_ENST00000343529.5_Missense_Mutation_p.N647K|RELN_ENST00000424685.2_Missense_Mutation_p.N647K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	647					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)		GAATCCTGGTGTTCCGGGTTA	0.423																																					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.(1939-1941)AAC>AAA		reelin isoform a							249.0	209.0	222.0					7																	103290782		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.chr7:103290782G>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.1941C>A	7.37:g.103290782G>T	ENSP00000392423:p.Asn647Lys					RELN_uc010liz.2_Missense_Mutation_p.N647K	p.N647K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2101	-			647					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1941C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	6.586	0.476373	0.12521	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21191	2.04;2.1;2.02	6.08	3.31	0.37934	.	0.214454	0.44902	D	0.000412	T	0.12390	0.0301	N	0.14661	0.345	0.25800	N	0.984529	B;B	0.17852	0.024;0.011	B;B	0.17722	0.019;0.014	T	0.18681	-1.0329	10	0.39692	T	0.17	.	10.7532	0.46221	0.2547:0.0:0.7453:0.0	.	647;647	P78509-2;P78509	.;RELN_HUMAN	K	647	ENSP00000392423:N647K;ENSP00000345694:N647K;ENSP00000388446:N647K	ENSP00000345694:N647K	N	-	3	2	RELN	103078018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.700000	0.25601	0.913000	0.36797	0.591000	0.81541	AAC		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		23	80	1	0	3.29e-13	4.28e-13	23	80				
CDHR3	222256	broad.mit.edu	37	7	105603804	105603804	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:105603804A>G	ENST00000317716.9	+	1	120	c.40A>G	c.(40-42)Atg>Gtg	p.M14V	CDHR3_ENST00000542731.1_Missense_Mutation_p.M14V|CDHR3_ENST00000478080.1_5'UTR|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Missense_Mutation_p.M14V	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	14					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGGTGCCATGTCAGGTAG	0.488																																						uc003vdl.3		NA																	0				ovary(1)	1						c.(40-42)ATG>GTG		hypothetical protein LOC222256 precursor							259.0	257.0	258.0					7																	105603804		2026	4183	6209	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105603804A>G	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.40A>G	7.37:g.105603804A>G	ENSP00000325954:p.Met14Val					CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.M14V|CDHR3_uc011klt.1_5'UTR	p.M14V	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			1	148	+			14					Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.40A>G	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	A	3.054	-0.194647	0.06259	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000541203	T;T;T	0.52295	0.67;0.67;1.66	5.37	-10.3	0.00346	.	3.050000	0.00810	N	0.001486	T	0.17280	0.0415	N	0.03608	-0.345	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11916	-1.0568	10	0.09338	T	0.73	7.6084	5.8157	0.18492	0.1046:0.4046:0.402:0.0889	.	14;14	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	V	14	ENSP00000439766:M14V;ENSP00000325954:M14V;ENSP00000443733:M14V	ENSP00000325954:M14V	M	+	1	0	CDHR3	105391040	0.000000	0.05858	0.000000	0.03702	0.639000	0.38242	-0.856000	0.04290	-2.228000	0.00721	-0.445000	0.05633	ATG		0.488	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		85	163	0	0	0	0	85	163				
PIK3CG	5294	broad.mit.edu	37	7	106507993	106507993	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106507993A>T	ENST00000359195.3	+	2	298		c.e2-1		PIK3CG_ENST00000440650.2_Splice_Site|PIK3CG_ENST00000496166.1_Splice_Site	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma						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						CTCCGCTCCCAGGTCGCATAG	0.567																																						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.e2-2		phosphoinositide-3-kinase, catalytic, gamma							40.0	46.0	44.0					7																	106507993		2202	4299	6501	SO:0001630	splice_region_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.chr7:106507993A>T		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.-12-1A>T	7.37:g.106507993A>T						PIK3CG_uc003vdu.2_Splice_Site|PIK3CG_uc003vdw.2_Splice_Site		NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	74	+								A4D0Q6|Q8IV23|Q9BZC8	Splice_Site	SNP	ENST00000359195.3	37	c.-11_splice	CCDS5739.1																																																																																				0.567	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		Intron	37	101	0	0	0	0	37	101				
PIK3CG	5294	broad.mit.edu	37	7	106509367	106509368	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:106509367_106509368CC>AA	ENST00000359195.3	+	2	1671_1672	c.1361_1362CC>AA	c.(1360-1362)tCC>tAA	p.S454*	PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.S454*|PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.S454*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	454	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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						AGTTCTGAGTCCAAGGGCAAAG	0.53																																						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.(1360-1362)TCC>TAA		phosphoinositide-3-kinase, catalytic, gamma																																				SO:0001587	stop_gained	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.chr7:106509367_106509368CC>AA		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	Exception_encountered	7.37:g.106509367_106509368delinsAA	ENSP00000352121:p.Ser454*					PIK3CG_uc003vdu.2_Nonsense_Mutation_p.S454*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.S454*	p.S454*	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1446_1447	+			454					A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation	DNP	ENST00000359195.3	37	c.1361_1362CC>AA	CCDS5739.1																																																																																				0.530	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			39	99	0	0	0	0	39	99				
SLC13A1	6561	broad.mit.edu	37	7	122787212	122787213	+	Splice_Site	DNP	CG	CG	TA	rs150284958|rs199595316		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:122787212_122787213CG>TA	ENST00000194130.2	-	7	851_852	c.812_813CG>TA	c.(811-813)aCG>aTA	p.T271I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	271					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGGTTACTTACGTATTGAAATA	0.356																																						uc003vkm.2		NA																	0				ovary(2)	2						c.e7+1		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)																																			SO:0001630	splice_region_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787212_122787213CG>TA		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.812_813delinsTA	7.37:g.122787212_122787213delinsTA						SLC13A1_uc010lks.2_Splice_Site_p.T147_splice	p.T271_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			7	837	-								Q9H5Z0	Splice_Site	DNP	ENST00000194130.2	37	c.812_splice	CCDS5786.1																																																																																				0.356	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Missense_Mutation	35	38	0	0	0	0	35	38				
GPR37	2861	broad.mit.edu	37	7	124387211	124387211	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:124387211T>A	ENST00000303921.2	-	2	1860	c.1210A>T	c.(1210-1212)Agc>Tgc	p.S404C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	404					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCTCCTTGCTCAGCTGGCGG	0.473																																						uc003vli.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1210-1212)AGC>TGC		G protein-coupled receptor 37 precursor							120.0	116.0	118.0					7																	124387211		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124387211T>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1210A>T	7.37:g.124387211T>A	ENSP00000306449:p.Ser404Cys						p.S404C	NM_005302	NP_005293	O15354	GPR37_HUMAN			2	1861	-			404			Extracellular (Potential).		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1210A>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024805	0.54683	.	.	ENSG00000170775	ENST00000303921	T	0.72725	-0.68	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.230823	0.39544	N	0.001332	T	0.69611	0.3130	L	0.27053	0.805	0.34253	D	0.67897	D	0.61697	0.99	D	0.65140	0.932	T	0.75964	-0.3132	10	0.39692	T	0.17	-26.1104	6.3603	0.21425	0.141:0.0757:0.0:0.7833	.	404	O15354	GPR37_HUMAN	C	404	ENSP00000306449:S404C	ENSP00000306449:S404C	S	-	1	0	GPR37	124174447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.543000	0.45752	2.168000	0.68352	0.533000	0.62120	AGC		0.473	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		44	104	0	0	0	0	44	104				
LRRC4	64101	broad.mit.edu	37	7	127670179	127670179	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:127670179G>A	ENST00000249363.3	-	2	772	c.515C>T	c.(514-516)tCc>tTc	p.S172F	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	172					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GCGCATGAGGGAGGGCACCCG	0.567																																						uc003vmk.2		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(514-516)TCC>TTC		leucine rich repeat containing 4 precursor							59.0	64.0	62.0					7																	127670179		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670179G>A	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.515C>T	7.37:g.127670179G>A	ENSP00000249363:p.Ser172Phe					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.S172F	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	652	-			172			LRR 5.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.515C>T	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649378	0.67358	.	.	ENSG00000128594	ENST00000249363	D	0.92397	-3.03	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.96500	0.8858	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97180	0.9850	10	0.72032	D	0.01	.	14.8699	0.70448	0.0:0.0:1.0:0.0	.	172	Q9HBW1	LRRC4_HUMAN	F	172	ENSP00000249363:S172F	ENSP00000249363:S172F	S	-	2	0	LRRC4	127457415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.590000	0.98238	2.316000	0.78162	0.655000	0.94253	TCC		0.567	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		56	117	0	0	0	0	56	117				
MKLN1	4289	broad.mit.edu	37	7	131128284	131128284	+	Silent	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:131128284T>C	ENST00000352689.6	+	11	1258	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	MKLN1_ENST00000421797.2_Silent_p.G314G	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	406					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTTTTGGTGGTAGAATTTTGA	0.393																																						uc011kpm.1		NA																	0				breast(1)	1						c.(1216-1218)GGT>GGC		muskelin 1, intracellular mediator containing							160.0	137.0	145.0					7																	131128284		2203	4300	6503	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131128284T>C	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1218T>C	7.37:g.131128284T>C						MKLN1_uc011kpl.1_Silent_p.G383G|MKLN1_uc010lmh.2_Silent_p.G406G|MKLN1_uc003vqs.2_Silent_p.G199G	p.G406G	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			11	1282	+	Melanoma(18;0.162)		406					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.1218T>C	CCDS34754.1																																																																																				0.393	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		5	119	0	0	0	0	5	119				
MGAM	8972	broad.mit.edu	37	7	141719028	141719028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:141719028G>A	ENST00000549489.2	+	4	452	c.357G>A	c.(355-357)tgG>tgA	p.W119*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.W119*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	119	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGTTGCTGGAATCCCCAGG	0.448																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(355-357)TGG>TGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						117.0	119.0	118.0					7																	141719028		1917	4137	6054	SO:0001587	stop_gained	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141719028G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.357G>A	7.37:g.141719028G>A	ENSP00000447378:p.Trp119*						p.W119*	NM_004668	NP_004659	O43451	MGA_HUMAN			4	411	+	Melanoma(164;0.0272)		119			P-type 1.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.357G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443382	0.96187	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	.	.	.	4.85	4.85	0.62838	.	0.000000	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.847	0.78901	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000373973:W119X	W	+	3	0	MGAM	141365497	1.000000	0.71417	0.971000	0.41717	0.934000	0.57294	8.635000	0.91006	2.682000	0.91365	0.514000	0.50259	TGG		0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			38	112	0	0	0	0	38	112				
CLCN1	1180	broad.mit.edu	37	7	143028713	143028713	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:143028713G>A	ENST00000343257.2	+	10	1221	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	378					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGTCCGAAAGCACAAGGCCC	0.478																																						uc003wcr.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1132-1134)AAG>AAA		chloride channel 1, skeletal muscle							133.0	119.0	123.0					7																	143028713		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028713G>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1134G>A	7.37:g.143028713G>A						CLCN1_uc011ktc.1_Silent_p.K40K	p.K378K	NM_000083	NP_000074	P35523	CLCN1_HUMAN			10	1221	+	Melanoma(164;0.205)		378					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.1134G>A	CCDS5881.1																																																																																				0.478	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		37	93	0	0	0	0	37	93				
SSPO	23145	broad.mit.edu	37	7	149473575	149473575	+	RNA	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr7:149473575G>A	ENST00000378016.2	+	0	191							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCGCTCGGGGCTTACCCGG	0.662																																						uc010lpk.2		NA																	0					0						c.(190-192)GGG>GAG		SCO-spondin precursor							10.0	13.0	12.0					7																	149473575		1884	4062	5946			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149473575G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149473575G>A						SSPO_uc010lpl.1_5'UTR	p.G64E	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		2	191	+	Melanoma(164;0.165)|Ovarian(565;0.177)		64			EMI.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.191G>A																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6	0	0	0	0	4	6				
PTK2B	2185	broad.mit.edu	37	8	27311740	27311740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27311740C>T	ENST00000397501.1	+	34	3473	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	PTK2B_ENST00000420218.2_Missense_Mutation_p.R847W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R847W|PTK2B_ENST00000544172.1_Missense_Mutation_p.R889W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R847W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R889W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	889	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GGAGCTGGTGCGGGCCGTGCT	0.622																																						uc003xfn.1		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(2665-2667)CGG>TGG		PTK2B protein tyrosine kinase 2 beta isoform a							91.0	85.0	87.0					8																	27311740		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27311740C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2665C>T	8.37:g.27311740C>T	ENSP00000380638:p.Arg889Trp					PTK2B_uc003xfo.1_Missense_Mutation_p.R889W|PTK2B_uc003xfp.1_Missense_Mutation_p.R889W|PTK2B_uc003xfq.1_Missense_Mutation_p.R847W	p.R889W	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	34	3473	+		Ovarian(32;2.72e-05)	889			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.2665C>T	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355802	0.82243	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.92	4.0	0.46444	Focal adhesion kinase, targeting (FAT) domain (3);	0.317543	0.37304	N	0.002155	T	0.43255	0.1239	L	0.52011	1.625	0.32795	N	0.500603	D;P	0.55385	0.971;0.954	P;P	0.55011	0.59;0.766	T	0.58205	-0.7677	10	0.87932	D	0	.	8.2225	0.31549	0.2788:0.5663:0.155:0.0	.	847;889	Q14289-2;Q14289	.;FAK2_HUMAN	W	889;847;889;889;847;847	ENSP00000380638:R889W;ENSP00000342242:R847W;ENSP00000440926:R889W;ENSP00000332816:R889W;ENSP00000391995:R847W;ENSP00000427931:R847W	ENSP00000342242:R847W	R	+	1	2	PTK2B	27367657	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.531000	0.45650	1.474000	0.48178	0.555000	0.69702	CGG		0.622	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		30	26	0	0	0	0	30	26				
PBK	55872	broad.mit.edu	37	8	27668593	27668593	+	Silent	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:27668593C>T	ENST00000301905.4	-	7	1117	c.654G>A	c.(652-654)gtG>gtA	p.V218V	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Silent_p.V229V	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CATTCTCCTCCACAGCTTCTT	0.428																																						uc003xgi.2		NA																	0					0						c.(652-654)GTG>GTA		PDZ binding kinase							129.0	111.0	117.0					8																	27668593		2203	4300	6503	SO:0001819	synonymous_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27668593C>T	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.654G>A	8.37:g.27668593C>T						ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Silent_p.V229V	p.V218V	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	7	855	-		Ovarian(32;0.000953)	218			Protein kinase.		B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Silent	SNP	ENST00000301905.4	37	c.654G>A	CCDS6063.1																																																																																				0.428	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		26	30	0	0	0	0	26	30				
C8orf34	116328	broad.mit.edu	37	8	69633639	69633639	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:69633639C>A	ENST00000539993.1	+	10	1662	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	C8orf34_ENST00000518698.1_Missense_Mutation_p.D457E|C8orf34_ENST00000325233.3_Missense_Mutation_p.D115E|C8orf34_ENST00000337103.4_Missense_Mutation_p.D346E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	371										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGGAGGGTGACGAATTTGAGA	0.284																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(1111-1113)GAC>GAA		hypothetical protein LOC116328							112.0	119.0	116.0					8																	69633639		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633639C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1113C>A	8.37:g.69633639C>A	ENSP00000438159:p.Asp371Glu					C8orf34_uc003xyb.2_Missense_Mutation_p.D346E	p.D371E	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		10	1162	+			371					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1113C>A		.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298342	0.01364	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.39997	1.05;1.11;1.11;1.06	5.55	0.0191	0.14119	.	0.520568	0.20159	N	0.097994	T	0.09423	0.0232	N	0.00707	-1.245	0.19300	N	0.999973	B	0.02656	0.0	B	0.04013	0.001	T	0.25676	-1.0125	9	.	.	.	-6.8438	1.8886	0.03243	0.5078:0.144:0.08:0.2682	.	371	Q49A92	CH034_HUMAN	E	457;371;346;115	ENSP00000427820:D457E;ENSP00000438159:D371E;ENSP00000337174:D346E;ENSP00000319532:D115E	.	D	+	3	2	C8orf34	69796193	0.996000	0.38824	0.929000	0.37066	0.325000	0.28411	0.120000	0.15647	0.147000	0.19030	-1.690000	0.00728	GAC		0.284	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		31	36	1	0	8.16e-20	1.14e-19	31	36				
XKR9	389668	broad.mit.edu	37	8	71646336	71646336	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:71646336G>T	ENST00000408926.3	+	5	1333	c.799G>T	c.(799-801)Gtt>Ttt	p.V267F	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.V267F	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	267						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TAGGATTGTTGTTGGATTCAT	0.313																																						uc003xyq.2		NA																	0				ovary(1)|skin(1)	2						c.(799-801)GTT>TTT		XK, Kell blood group complex subunit-related							99.0	98.0	98.0					8																	71646336		2202	4299	6501	SO:0001583	missense	389668					integral to membrane		g.chr8:71646336G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.799G>T	8.37:g.71646336G>T	ENSP00000386141:p.Val267Phe					XKR9_uc010lze.2_Missense_Mutation_p.V267F|XKR9_uc010lzd.2_Missense_Mutation_p.V135F	p.V267F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1333	+	Breast(64;0.0716)		267			Helical; (Potential).		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.799G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161799	0.78226	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.68479	-0.33;-0.33	4.99	4.99	0.66335	.	0.064990	0.64402	D	0.000010	D	0.82595	0.5071	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80367	-0.1412	10	0.25106	T	0.35	-22.1793	18.4744	0.90786	0.0:0.0:1.0:0.0	.	267	Q5GH70	XKR9_HUMAN	F	267	ENSP00000386141:V267F;ENSP00000431088:V267F	ENSP00000386141:V267F	V	+	1	0	XKR9	71808890	1.000000	0.71417	0.989000	0.46669	0.880000	0.50808	4.425000	0.59875	2.597000	0.87782	0.563000	0.77884	GTT		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		52	61	1	0	2.28e-18	3.12e-18	52	61				
TRPA1	8989	broad.mit.edu	37	8	72973870	72973870	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:72973870T>C	ENST00000262209.4	-	7	1141	c.934A>G	c.(934-936)Atg>Gtg	p.M312V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	312					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGAAGCATGGTCTCATGA	0.423																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(934-936)ATG>GTG		ankyrin-like protein 1	Menthol(DB00825)						237.0	195.0	209.0					8																	72973870		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72973870T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.934A>G	8.37:g.72973870T>C	ENSP00000262209:p.Met312Val						p.M312V	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1109	-			312			ANK 8.|Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.934A>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	6.536	0.467200	0.12402	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.62788	-0.0;-0.0	4.64	2.8	0.32819	Ankyrin repeat-containing domain (4);	0.269718	0.35615	N	0.003088	T	0.22322	0.0538	N	0.00377	-1.585	0.19575	N	0.999963	B	0.18310	0.027	B	0.18561	0.022	T	0.17501	-1.0367	10	0.40728	T	0.16	-0.7247	4.7834	0.13213	0.1575:0.0:0.617:0.2255	.	312	O75762	TRPA1_HUMAN	V	164;312	ENSP00000428151:M164V;ENSP00000262209:M312V	ENSP00000262209:M312V	M	-	1	0	TRPA1	73136424	0.902000	0.30710	0.956000	0.39512	0.415000	0.31203	1.888000	0.39708	1.286000	0.44565	-0.213000	0.12676	ATG		0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		91	77	0	0	0	0	91	77				
ZFHX4	79776	broad.mit.edu	37	8	77775986	77775986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:77775986C>G	ENST00000521891.2	+	11	10484	c.10036C>G	c.(10036-10038)Cag>Gag	p.Q3346E	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q3297E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q3301E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q3320E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			gAAACCAGTTCAGGCAAAGAC	0.463										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9901-9903)CAG>GAG		zinc finger homeodomain 4							20.0	23.0	22.0					8																	77775986		1933	4058	5991	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775986C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10036C>G	8.37:g.77775986C>G	ENSP00000430497:p.Gln3346Glu	HNSCC(33;0.089)					p.Q3301E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10288	+			3297					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9901C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632648	0.14322	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.7;0.65;0.66	4.68	4.68	0.58851	.	0.196490	0.25397	U	0.030974	T	0.36082	0.0954	N	0.17474	0.49	0.40330	D	0.978919	B	0.16802	0.019	B	0.17722	0.019	T	0.23013	-1.0200	10	0.52906	T	0.07	.	17.8005	0.88585	0.0:1.0:0.0:0.0	.	3301	Q86UP3-4	.	E	3346;3330;3301;3297;3320	ENSP00000430497:Q3346E;ENSP00000399605:Q3301E;ENSP00000050961:Q3297E;ENSP00000430848:Q3320E	ENSP00000050961:Q3297E	Q	+	1	0	ZFHX4	77938541	1.000000	0.71417	0.148000	0.22405	0.989000	0.77384	4.650000	0.61440	2.449000	0.82847	0.655000	0.94253	CAG		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	3	0	0	0	0	3	3				
RALYL	138046	broad.mit.edu	37	8	85799925	85799926	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:85799925_85799926CC>AA	ENST00000521268.1	+	8	1877_1878	c.772_773CC>AA	c.(772-774)CCt>AAt	p.P258N	RALYL_ENST00000521695.1_Missense_Mutation_p.P258N|RALYL_ENST00000518566.1_Missense_Mutation_p.P247N|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.P271N|RALYL_ENST00000523850.1_Missense_Mutation_p.P185N|RALYL_ENST00000522455.1_Missense_Mutation_p.P258N	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TACAGAGGAGCCTGCTGAAGGA	0.51																																						uc003ycq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(772-774)CCT>AAT		RALY RNA binding protein-like isoform 2																																				SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799925_85799926CC>AA		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	Exception_encountered	8.37:g.85799925_85799926delinsAA	ENSP00000430367:p.Pro258Asn					RALYL_uc003ycr.3_Missense_Mutation_p.P258N|RALYL_uc003ycs.3_Missense_Mutation_p.P258N|RALYL_uc010lzy.2_Missense_Mutation_p.P247N|RALYL_uc003yct.3_Missense_Mutation_p.P271N|RALYL_uc003ycu.3_Missense_Mutation_p.P185N|RALYL_uc003ycv.3_Intron	p.P258N	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			9	1188_1189	+			258					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	DNP	ENST00000521268.1	37	c.772_773CC>AA	CCDS55253.1																																																																																				0.510	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			85	79	0	0	0	0	85	79				
SLC26A7	115111	broad.mit.edu	37	8	92307834	92307834	+	Missense_Mutation	SNP	C	C	A	rs190149973		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:92307834C>A	ENST00000276609.3	+	4	619	c.380C>A	c.(379-381)aCc>aAc	p.T127N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.T127N|SLC26A7_ENST00000523719.1_Missense_Mutation_p.T127N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGAATCTCACCACACAGAGT	0.498																																						uc003yex.2		NA																	0				ovary(2)	2						c.(379-381)ACC>AAC		solute carrier family 26, member 7 isoform a							171.0	142.0	152.0					8																	92307834		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92307834C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.380C>A	8.37:g.92307834C>A	ENSP00000276609:p.Thr127Asn					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.T127N|SLC26A7_uc003yfa.2_Missense_Mutation_p.T127N	p.T127N	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		5	658	+			127			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.380C>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517431	0.44763	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.93133	-2.92;-3.16;-3.16;-3.17	5.48	5.48	0.80851	.	0.156037	0.44902	D	0.000418	D	0.94298	0.8168	L	0.54323	1.7	0.38154	D	0.93883	D;P	0.59767	0.986;0.953	P;P	0.60886	0.88;0.631	D	0.92354	0.5892	10	0.11485	T	0.65	.	16.2524	0.82492	0.0:1.0:0.0:0.0	.	127;127	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	N	127	ENSP00000428881:T127N;ENSP00000428849:T127N;ENSP00000276609:T127N;ENSP00000309504:T127N	ENSP00000276609:T127N	T	+	2	0	SLC26A7	92377010	0.999000	0.42202	0.998000	0.56505	0.138000	0.21146	2.942000	0.49018	2.576000	0.86940	0.563000	0.77884	ACC		0.498	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			11	152	1	0	0.00829132	0.00875644	11	152				
RIMS2	9699	broad.mit.edu	37	8	105105870	105105870	+	Splice_Site	SNP	A	A	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:105105870A>T	ENST00000436393.2	+	21	3134	c.2893A>T	c.(2893-2895)Aga>Tga	p.R965*	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGAAAATCAGGTAAGGGGA	0.368										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2893-2895)AGA>TGA		regulating synaptic membrane exocytosis 2							62.0	61.0	61.0					8																	105105870		876	1991	2867	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105105870A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2894+1A>T	8.37:g.105105870A>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1038C|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.R965*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		21	3134	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.2893A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	10.293902|10.293902	0.99377|0.99377	.|.	.|.	ENSG00000176406|ENSG00000176406	ENST00000436393|ENST00000408894	.|T	.|0.19532	.|2.14	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34978	.|0.0916	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.06499	.|-1.0823	.|6	0.44086|0.54805	T|T	0.13|0.06	.|.	10.744|10.744	0.46170|0.46170	0.9294:0.0:0.0706:0.0|0.9294:0.0:0.0706:0.0	.|.	.|.	.|.	.|.	X|C	965|1038	.|ENSP00000386228:S1038C	ENSP00000390665:R965X|ENSP00000386228:S1038C	R|S	+|+	1|1	2|0	RIMS2|RIMS2	105175046|105175046	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.959000|5.959000	0.70339|0.70339	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	AGA|AGT		0.368	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Nonsense_Mutation	50	28	0	0	0	0	50	28				
CSMD3	114788	broad.mit.edu	37	8	113326813	113326813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113326813G>A	ENST00000297405.5	-	48	7638	c.7394C>T	c.(7393-7395)tCt>tTt	p.S2465F	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2425F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2395F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2361F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2465	CUB 14. {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						GACTCCAGTAGAATCTAGCCG	0.388										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.(7393-7395)TCT>TTT		CUB and Sushi multiple domains 3 isoform 1							64.0	62.0	63.0					8																	113326813		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326813G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7394C>T	8.37:g.113326813G>A	ENSP00000297405:p.Ser2465Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1667F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2425F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2361F|CSMD3_uc003ynw.1_Missense_Mutation_p.S176F	p.S2465F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			48	7553	-			2465			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7394C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696299	0.88830	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	4.98	4.98	0.66077	CUB (5);	0.000000	0.64402	D	0.000004	T	0.49167	0.1541	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.45041	-0.9288	10	0.40728	T	0.16	.	18.4156	0.90568	0.0:0.0:1.0:0.0	.	2361;2465;2425	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2425;2465;1735;2361;2395	ENSP00000345799:S2425F;ENSP00000297405:S2465F;ENSP00000341558:S1735F;ENSP00000412263:S2361F;ENSP00000343124:S2395F	ENSP00000297405:S2465F	S	-	2	0	CSMD3	113395989	1.000000	0.71417	0.959000	0.39883	0.958000	0.62258	9.652000	0.98499	2.576000	0.86940	0.579000	0.79373	TCT		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	29	0	0	0	0	27	29				
CSMD3	114788	broad.mit.edu	37	8	113504751	113504751	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:113504751G>T	ENST00000297405.5	-	31	5489	c.5245C>A	c.(5245-5247)Cct>Act	p.P1749T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1709T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1749T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1645T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1749	Sushi 9. {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						TTCCATCCAGGTCTTCCATCA	0.348										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.(5245-5247)CCT>ACT		CUB and Sushi multiple domains 3 isoform 1							143.0	127.0	132.0					8																	113504751		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113504751G>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.5245C>A	8.37:g.113504751G>T	ENSP00000297405:p.Pro1749Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1021T|CSMD3_uc003ynt.2_Missense_Mutation_p.P1709T|CSMD3_uc011lhx.1_Missense_Mutation_p.P1645T	p.P1749T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			31	5404	-			1749			Extracellular (Potential).|Sushi 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5245C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382538	0.61845	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.77820	2.39	0.48040	D	0.999577	D;D;D	0.71674	0.997;0.974;0.998	D;P;D	0.76575	0.962;0.88;0.988	T	0.74237	-0.3730	10	0.20046	T	0.44	.	18.6241	0.91331	0.0:0.0:1.0:0.0	.	1645;1749;1709	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1709;1749;1089;1645;1749	ENSP00000345799:P1709T;ENSP00000297405:P1749T;ENSP00000341558:P1089T;ENSP00000412263:P1645T;ENSP00000343124:P1749T	ENSP00000297405:P1749T	P	-	1	0	CSMD3	113573927	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.597000	0.82733	2.704000	0.92352	0.585000	0.79938	CCT		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	167	1	0	7.42e-09	9.15e-09	26	167				
FAM135B	51059	broad.mit.edu	37	8	139380222	139380222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139380222G>A	ENST00000395297.1	-	2	175	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	2										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTATTTCAGACATGATCTT	0.363										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(4-6)TCT>TTT		hypothetical protein LOC51059							145.0	137.0	140.0					8																	139380222		1876	4110	5986	SO:0001583	missense	51059							g.chr8:139380222G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.5C>T	8.37:g.139380222G>A	ENSP00000378710:p.Ser2Phe	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.S2F	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	176	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		2					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.5C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204285	0.79127	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.16743	2.32	5.54	4.64	0.57946	.	0.000000	0.53938	U	0.000042	T	0.37679	0.1012	M	0.75264	2.295	0.48236	D	0.999616	D	0.60160	0.987	P	0.58013	0.831	T	0.34725	-0.9817	10	0.72032	D	0.01	-7.9864	15.2365	0.73436	0.0:0.1414:0.8585:0.0	.	2	Q49AJ0	F135B_HUMAN	F	2	ENSP00000378710:S2F	ENSP00000160713:S2F	S	-	2	0	FAM135B	139449404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.207000	0.77899	1.439000	0.47511	0.561000	0.74099	TCT		0.363	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		77	99	0	0	0	0	77	99				
COL22A1	169044	broad.mit.edu	37	8	139620234	139620234	+	Splice_Site	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:139620234T>G	ENST00000303045.6	-	57	4425		c.e57-2		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						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)			ATTCTTGCCCTGGTGGAAGAA	0.517										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.e57-1		collagen, type XXII, alpha 1							81.0	82.0	82.0					8																	139620234		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620234T>G	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.3979-2A>C	8.37:g.139620234T>G		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.G607_splice	p.G1327_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4426	-	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)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.3979_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604985	0.46423	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.05	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6238	0.45495	0.1437:0.0:0.0:0.8563	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139689416	1.000000	0.71417	0.899000	0.35326	0.550000	0.35303	6.488000	0.73637	0.921000	0.36994	0.460000	0.39030	.		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	21	108	0	0	0	0	21	108				
KCNK9	51305	broad.mit.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A288V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGGACGTCCGCCTTGTACCT	0.667																																						uc003yvf.1		NA																	1	Substitution - Missense(1)	p.A288V(1)	ovary(1)	ovary(2)|lung(1)	3						c.(862-864)GCG>GTG		potassium channel, subfamily K, member 9							48.0	53.0	51.0					8																	140630763		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630763G>A	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.863C>T	8.37:g.140630763G>A	ENSP00000430676:p.Ala288Val					KCNK9_uc003yvg.1_Missense_Mutation_p.A288V|KCNK9_uc003yve.1_RNA	p.A288V	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	927	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	288			Cytoplasmic (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.863C>T	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676779	0.47886	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17528	2.27;2.27;2.27	5.53	3.67	0.42095	.	1.078660	0.07116	N	0.843000	T	0.22282	0.0537	M	0.63843	1.955	0.26385	N	0.976664	B	0.26876	0.162	B	0.25759	0.063	T	0.42258	-0.9462	10	0.15066	T	0.55	.	14.9469	0.71039	0.0:0.2816:0.7184:0.0	.	288	Q9NPC2	KCNK9_HUMAN	V	288	ENSP00000429847:A288V;ENSP00000302166:A288V;ENSP00000430676:A288V	ENSP00000302166:A288V	A	-	2	0	KCNK9	140699945	0.997000	0.39634	0.905000	0.35620	0.886000	0.51366	3.277000	0.51654	0.624000	0.30286	0.591000	0.81541	GCG		0.667	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		77	62	0	0	0	0	77	62				
TSNARE1	203062	broad.mit.edu	37	8	143381940	143381940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:143381940C>A	ENST00000307180.3	-	10	1314	c.1197G>T	c.(1195-1197)atG>atT	p.M399I	TSNARE1_ENST00000524325.1_Missense_Mutation_p.M398I|TSNARE1_ENST00000520166.1_Missense_Mutation_p.M399I|TSNARE1_ENST00000519651.1_Missense_Mutation_p.M180I|TSNARE1_ENST00000518928.1_5'UTR	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	399					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGCCCTGCCACATGTTGTCAC	0.607																																						uc003ywk.2		NA																	0					0						c.(1195-1197)ATG>ATT		t-SNARE domain containing 1							79.0	72.0	74.0					8																	143381940		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143381940C>A			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1197G>T	8.37:g.143381940C>A	ENSP00000303437:p.Met399Ile					TSNARE1_uc011lju.1_Missense_Mutation_p.M398I|TSNARE1_uc003ywj.2_Missense_Mutation_p.M400I|TSNARE1_uc003ywl.3_Missense_Mutation_p.M180I	p.M399I	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			10	1315	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		399					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1197G>T	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.601867	0.00849	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.76	-0.305	0.12784	t-SNARE (1);	2.770580	0.01858	U	0.036425	T	0.15046	0.0363	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.22626	-1.0211	10	0.46703	T	0.11	-20.58	3.4176	0.07381	0.3049:0.4355:0.0:0.2596	.	398;180;399;400	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	I	398;399;399;180	ENSP00000428763:M398I;ENSP00000303437:M399I;ENSP00000427770:M399I;ENSP00000429679:M180I	ENSP00000303437:M399I	M	-	3	0	TSNARE1	143379847	0.000000	0.05858	0.009000	0.14445	0.067000	0.16453	-0.444000	0.06854	-0.143000	0.11334	-0.899000	0.02877	ATG		0.607	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		15	163	1	0	2.63e-14	3.46e-14	15	163				
SLC39A4	55630	broad.mit.edu	37	8	145642057	145642057	+	Silent	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:145642057C>A	ENST00000301305.3	-	1	222	c.117G>T	c.(115-117)ctG>ctT	p.L39L	SLC39A4_ENST00000276833.5_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	39					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTCTTGATCCAGAGCGCCCT	0.682																																						uc003zcq.2		NA																	0					0						c.(115-117)CTG>CTT		solute carrier family 39 (zinc transporter),							30.0	31.0	30.0					8																	145642057		2200	4298	6498	SO:0001819	synonymous_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145642057C>A	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.117G>T	8.37:g.145642057C>A						SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_5'Flank	p.L39L	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		1	217	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		39			Extracellular (Potential).		Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000301305.3	37	c.117G>T	CCDS6424.1																																																																																				0.682	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			15	11	1	0	2.32e-05	2.64e-05	15	11				
DOCK8	81704	broad.mit.edu	37	9	312083	312083	+	Missense_Mutation	SNP	G	G	A	rs373168547		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:312083G>A	ENST00000453981.1	+	6	770	c.658G>A	c.(658-660)Gag>Aag	p.E220K	DOCK8_ENST00000469391.1_Missense_Mutation_p.E152K|DOCK8_ENST00000432829.2_Missense_Mutation_p.E152K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	220					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGAGTGCCGAGGACTTTGA	0.597																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(658-660)GAG>AAG		dedicator of cytokinesis 8		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	70.0	70.0	70.0		454,454,658	4.8	0.9	9		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	152/2000,152/2032,220/2100	312083	1,13005	2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:312083G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.658G>A	9.37:g.312083G>A	ENSP00000408464:p.Glu220Lys					DOCK8_uc011lls.1_Missense_Mutation_p.E220K|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.E152K|DOCK8_uc010mgt.2_Missense_Mutation_p.E152K|DOCK8_uc003zgg.2_Missense_Mutation_p.E152K|DOCK8_uc003zgh.2_RNA	p.E220K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	6	770	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	220					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.658G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776124	0.70107	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.18338	2.22;2.22;2.22	5.69	4.78	0.61160	.	0.053567	0.64402	D	0.000001	T	0.39759	0.1090	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.71184	0.972;0.928;0.963	T	0.16129	-1.0413	10	0.37606	T	0.19	.	16.4778	0.84137	0.0:0.1313:0.8687:0.0	.	152;220;220	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	K	220;220;152;152	ENSP00000408464:E220K;ENSP00000394888:E152K;ENSP00000419438:E152K	ENSP00000287364:E220K	E	+	1	0	DOCK8	302083	1.000000	0.71417	0.870000	0.34147	0.165000	0.22458	7.648000	0.83479	1.370000	0.46153	0.563000	0.77884	GAG		0.597	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		56	95	0	0	0	0	56	95				
KANK1	23189	broad.mit.edu	37	9	713363	713363	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:713363T>C	ENST00000382303.1	+	7	3249	c.2597T>C	c.(2596-2598)cTc>cCc	p.L866P	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.L708P|KANK1_ENST00000382297.2_Missense_Mutation_p.L866P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	866					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACTCTCAGCTCATCAGCACC	0.512																																						uc003zgl.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2596-2598)CTC>CCC		KN motif and ankyrin repeat domains 1 isoform a							107.0	102.0	104.0					9																	713363		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713363T>C	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2597T>C	9.37:g.713363T>C	ENSP00000371740:p.Leu866Pro					KANK1_uc003zgm.2_Missense_Mutation_p.L866P|KANK1_uc003zgn.1_Missense_Mutation_p.L866P|KANK1_uc003zgo.1_Missense_Mutation_p.L866P|KANK1_uc003zgp.1_Missense_Mutation_p.L866P|KANK1_uc003zgq.2_Missense_Mutation_p.L708P|KANK1_uc003zgr.1_Missense_Mutation_p.L708P|KANK1_uc003zgs.1_Missense_Mutation_p.L708P	p.L866P	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3246	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	866					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2597T>C	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507543	0.85282	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.21932	1.98;1.98;1.98	5.79	5.79	0.91817	.	0.000000	0.49305	D	0.000156	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.959	T	0.50634	-0.8805	10	0.87932	D	0	-2.2599	16.1329	0.81458	0.0:0.0:0.0:1.0	.	866;866	Q5W0W1;Q14678	.;KANK1_HUMAN	P	866;866;866;708	ENSP00000371740:L866P;ENSP00000371734:L866P;ENSP00000371730:L708P	ENSP00000346479:L866P	L	+	2	0	KANK1	703363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.950000	0.87804	2.208000	0.71279	0.533000	0.62120	CTC		0.512	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		91	94	0	0	0	0	91	94				
OR13J1	392309	broad.mit.edu	37	9	35869982	35869982	+	Silent	SNP	C	C	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:35869982C>G	ENST00000377981.2	-	1	479	c.417G>C	c.(415-417)cgG>cgC	p.R139R		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	139						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)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCACGCAGAGCCGGTGGCTCA	0.637																																						uc011lph.1		NA																	0				central_nervous_system(1)	1						c.(415-417)CGG>CGC		olfactory receptor, family 13, subfamily J,							54.0	61.0	59.0					9																	35869982		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869982C>G		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.417G>C	9.37:g.35869982C>G							p.R139R	NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	417	-	all_epithelial(49;0.169)		139			Cytoplasmic (Potential).		B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.417G>C	CCDS35011.1																																																																																				0.637	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			34	68	0	0	0	0	34	68				
FOXD4L5	653427	broad.mit.edu	37	9	70177139	70177139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:70177139G>T	ENST00000377420.1	-	1	1676	c.845C>A	c.(844-846)cCg>cAg	p.P282Q		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	282					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						TGCTTTCTTCGGTGCCCCGGC	0.677																																						uc010moc.2		NA																	0					0						c.(844-846)CCG>CAG		forkhead box D4-like 5							2.0	3.0	3.0					9																	70177139		498	1280	1778	SO:0001583	missense	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177139G>T		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.845C>A	9.37:g.70177139G>T	ENSP00000366637:p.Pro282Gln						p.P282Q	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			1	1677	-			282						Missense_Mutation	SNP	ENST00000377420.1	37	c.845C>A	CCDS47977.1	.	.	.	.	.	.	.	.	.	.	g	12.57	1.976358	0.34848	.	.	ENSG00000204779	ENST00000377420	D	0.93811	-3.29	1.07	1.07	0.20283	.	0.220757	0.22879	U	0.054530	D	0.92195	0.7525	L	0.34521	1.04	0.21762	N	0.99955	D	0.71674	0.998	D	0.69654	0.965	D	0.83650	0.0155	10	0.66056	D	0.02	.	5.4941	0.16793	0.0:0.0:1.0:0.0	.	282	Q5VV16	FX4L5_HUMAN	Q	282	ENSP00000366637:P282Q	ENSP00000366637:P282Q	P	-	2	0	FOXD4L5	69466959	0.000000	0.05858	0.041000	0.18516	0.268000	0.26511	-0.617000	0.05584	0.534000	0.28695	0.074000	0.15403	CCG		0.677	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334		17	97	1	0	3.08e-08	3.78e-08	17	97				
PIP5K1B	8395	broad.mit.edu	37	9	71503929	71503929	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71503929G>A	ENST00000265382.3	+	7	656	c.351G>A	c.(349-351)ctG>ctA	p.L117L	PIP5K1B_ENST00000541509.1_Silent_p.L117L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	117	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAATAGAACTGTCTAACCCTG	0.383																																						uc004agu.2		NA																	0				stomach(1)	1						c.(349-351)CTG>CTA		phosphatidylinositol-4-phosphate 5-kinase, type							217.0	209.0	211.0					9																	71503929		2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71503929G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.351G>A	9.37:g.71503929G>A						PIP5K1B_uc011lrq.1_Silent_p.L117L|PIP5K1B_uc004agv.2_RNA	p.L117L	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	656	+			117			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.351G>A	CCDS6624.1																																																																																				0.383	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		54	130	0	0	0	0	54	130				
TJP2	9414	broad.mit.edu	37	9	71845118	71845118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:71845118G>T	ENST00000377245.4	+	11	1849	c.1641G>T	c.(1639-1641)gaG>gaT	p.E547D	TJP2_ENST00000535702.1_Missense_Mutation_p.E551D|TJP2_ENST00000453658.2_Missense_Mutation_p.E524D|TJP2_ENST00000539225.1_Missense_Mutation_p.E578D|TJP2_ENST00000265384.7_Missense_Mutation_p.E547D|TJP2_ENST00000348208.4_Missense_Mutation_p.E547D	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	547	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CGGAGCAGGAGGGCCTTCAAG	0.517																																						uc004ahe.2		NA																	0					0						c.(1639-1641)GAG>GAT		tight junction protein 2 (zona occludens 2)							72.0	76.0	75.0					9																	71845118		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71845118G>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1641G>T	9.37:g.71845118G>T	ENSP00000366453:p.Glu547Asp					TJP2_uc011lrs.1_Missense_Mutation_p.E524D|TJP2_uc011lrt.1_Missense_Mutation_p.E524D|TJP2_uc004ahd.2_Missense_Mutation_p.E547D|TJP2_uc004ahf.2_Missense_Mutation_p.E547D|TJP2_uc011lru.1_Missense_Mutation_p.E551D|TJP2_uc011lrv.1_Missense_Mutation_p.E569D	p.E547D	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			11	1841	+			547			PDZ 3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1641G>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258043	0.59321	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	6.16	1.11	0.20524	PDZ/DHR/GLGF (4);	0.057496	0.64402	D	0.000002	T	0.25232	0.0613	N	0.10782	0.045	0.48901	D	0.999722	P;P;P;D;D	0.56287	0.882;0.852;0.808;0.964;0.975	B;P;B;P;P	0.61003	0.275;0.622;0.367;0.882;0.555	T	0.04467	-1.0949	10	0.72032	D	0.01	.	11.3338	0.49492	0.5682:0.0:0.4318:0.0	.	578;551;547;547;547	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	D	524;547;547;547;551;578	ENSP00000392178:E524D;ENSP00000366453:E547D;ENSP00000345893:E547D;ENSP00000265384:E547D;ENSP00000442090:E551D;ENSP00000438262:E578D	ENSP00000265384:E547D	E	+	3	2	TJP2	71034938	0.967000	0.33354	0.998000	0.56505	0.982000	0.71751	0.141000	0.16076	-0.044000	0.13491	-0.355000	0.07637	GAG		0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		37	55	1	0	3.78e-11	4.8e-11	37	55				
TMC1	117531	broad.mit.edu	37	9	75445586	75445586	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:75445586G>T	ENST00000297784.5	+	23	2788	c.2248G>T	c.(2248-2250)Gct>Tct	p.A750S	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A750S|TMC1_ENST00000396237.3_Missense_Mutation_p.A750S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	750	Poly-Ala.				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GAAAATGGCAGCTGCACGAGC	0.318																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	0				ovary(1)	1						c.(2248-2250)GCT>TCT		transmembrane channel-like 1							82.0	90.0	87.0					9																	75445586		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445586G>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2248G>T	9.37:g.75445586G>T	ENSP00000297784:p.Ala750Ser					TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.A604S|TMC1_uc010mpa.1_Intron	p.A750S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			23	2788	+			750			Cytoplasmic (Potential).|Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2248G>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700910	0.30142	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67345	-0.26;-0.26;-0.26	5.07	5.07	0.68467	.	0.171890	0.40469	N	0.001095	T	0.57695	0.2071	L	0.40543	1.245	0.29914	N	0.823335	D	0.58268	0.982	P	0.45406	0.479	T	0.56553	-0.7960	10	0.21540	T	0.41	-5.3831	11.181	0.48627	0.0927:0.0:0.9073:0.0	.	750	Q8TDI8	TMC1_HUMAN	S	750;750;717;744;750	ENSP00000297784:A750S;ENSP00000341433:A750S;ENSP00000379538:A750S	ENSP00000297784:A750S	A	+	1	0	TMC1	74635406	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	3.777000	0.55364	2.790000	0.95986	0.650000	0.86243	GCT		0.318	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	33	1	0	0.00829132	0.00875644	9	33				
S1PR3	1903	broad.mit.edu	37	9	91616672	91616672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:91616672C>T	ENST00000375846.3	+	1	5252	c.557C>T	c.(556-558)tCt>tTt	p.S186F	S1PR3_ENST00000358157.2_Missense_Mutation_p.S186F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	186					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCTGACTGCTCTACCATCCTG	0.577											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aqe.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(556-558)TCT>TTT		sphingosine-1-phosphate receptor 3							181.0	137.0	152.0					9																	91616672		2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616672C>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.557C>T	9.37:g.91616672C>T	ENSP00000365006:p.Ser186Phe		OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1283		p.S186F	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	953	+			186			Extracellular (By similarity).		Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.557C>T	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560102	0.86335	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.34859	1.34;1.34	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77822	-0.2445	10	0.87932	D	0	.	19.3785	0.94521	0.0:1.0:0.0:0.0	.	186	Q99500	S1PR3_HUMAN	F	186	ENSP00000350878:S186F;ENSP00000365006:S186F	ENSP00000350878:S186F	S	+	2	0	S1PR3	90806492	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.513000	0.81739	2.815000	0.96918	0.561000	0.74099	TCT		0.577	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		24	67	0	0	0	0	24	67				
OR1N2	138882	broad.mit.edu	37	9	125315759	125315759	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:125315759C>A	ENST00000373688.2	+	1	369	c.311C>A	c.(310-312)aCc>aAc	p.T104N		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AACATTCATACCCAGAGTCAG	0.478																																						uc011lyx.1		NA																	0				ovary(2)|skin(2)	4						c.(310-312)ACC>AAC		olfactory receptor, family 1, subfamily N,							241.0	237.0	239.0					9																	125315759		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315759C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.311C>A	9.37:g.125315759C>A	ENSP00000362792:p.Thr104Asn						p.T104N	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	311	+			104			Extracellular (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.311C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389980	0.25118	.	.	ENSG00000171501	ENST00000373688	T	0.01347	4.99	4.31	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	0.150264	0.30969	N	0.008519	T	0.01870	0.0059	M	0.64630	1.985	0.09310	N	1	B	0.27286	0.174	B	0.30782	0.12	T	0.38542	-0.9656	10	0.59425	D	0.04	.	5.5885	0.17287	0.1306:0.4194:0.3729:0.0771	.	104	Q8NGR9	OR1N2_HUMAN	N	104	ENSP00000362792:T104N	ENSP00000362792:T104N	T	+	2	0	OR1N2	124355580	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-0.577000	0.05847	-0.484000	0.06763	-0.149000	0.13747	ACC		0.478	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			86	162	1	0	1.13e-72	1.71e-72	86	162				
NDOR1	27158	broad.mit.edu	37	9	140108321	140108321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:140108321A>G	ENST00000344894.5	+	4	484	c.401A>G	c.(400-402)cAt>cGt	p.H134R	NDOR1_ENST00000371521.4_Missense_Mutation_p.H134R|NDOR1_ENST00000427047.2_Missense_Mutation_p.H134R|NDOR1_ENST00000458322.2_Missense_Mutation_p.H134R	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GATGACCAGCATGAGCTGGGG	0.677																																						uc004clw.2		NA																	0					0						c.(400-402)CAT>CGT		NADPH dependent diflavin oxidoreductase 1							31.0	34.0	33.0					9																	140108321		2202	4299	6501	SO:0001583	missense	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140108321A>G	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.401A>G	9.37:g.140108321A>G	ENSP00000343344:p.His134Arg					NDOR1_uc004clx.2_Missense_Mutation_p.H134R|NDOR1_uc011mes.1_Missense_Mutation_p.H134R|NDOR1_uc004cly.2_Missense_Mutation_p.H134R	p.H134R	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	512	+	all_cancers(76;0.0926)		134			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000344894.5	37	c.401A>G	CCDS7036.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889935	0.72524	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	3.74	3.74	0.42951	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;1.0;0.969	D;D;D;D	0.87578	0.998;0.944;0.997;0.949	D	0.86786	0.1982	10	0.51188	T	0.08	-0.5613	11.6719	0.51406	1.0:0.0:0.0:0.0	.	134;134;134;134	D3YTG6;D3YTH9;Q9UHB4-2;Q9UHB4	.;.;.;NDOR1_HUMAN	R	134	ENSP00000389905:H134R;ENSP00000394309:H134R;ENSP00000360576:H134R;ENSP00000343344:H134R	ENSP00000343344:H134R	H	+	2	0	NDOR1	139228142	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	5.203000	0.65174	1.707000	0.51288	0.533000	0.62120	CAT		0.677	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		17	10	0	0	0	0	17	10				
MSL3	10943	broad.mit.edu	37	X	11783734	11783734	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:11783734C>A	ENST00000312196.4	+	9	1162	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	MSL3_ENST00000337339.2_Missense_Mutation_p.R353S|MSL3_ENST00000361672.2_Missense_Mutation_p.R204S|MSL3_ENST00000398527.2_Missense_Mutation_p.R341S|MSL3_ENST00000380693.3_Missense_Mutation_p.R187S	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	353	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Required for the histone acetyltransferase activity of the MSL complex.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353C(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCGGTCCACGCGCCACAGTGC	0.622																																						uc004cuw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1057-1059)CGC>AGC		male-specific lethal 3-like 1 isoform a							101.0	99.0	100.0					X																	11783734		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783734C>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1057C>A	X.37:g.11783734C>A	ENSP00000312244:p.Arg353Ser					MSL3_uc004cuv.1_Missense_Mutation_p.R353S|MSL3_uc004cux.2_Missense_Mutation_p.R294S|MSL3_uc011mig.1_Missense_Mutation_p.R204S|MSL3_uc011mih.1_Missense_Mutation_p.R341S|MSL3_uc004cuy.2_Missense_Mutation_p.R187S	p.R353S	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			9	1162	+			353					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1057C>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175750	0.57692	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;T;T;T	0.17854	2.95;2.76;2.57;2.72;2.59;2.25	4.32	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.35098	0.0920	M	0.69248	2.105	0.30480	N	0.77247	D;B;P;D;D	0.71674	0.983;0.181;0.901;0.983;0.998	P;B;B;P;D	0.70716	0.695;0.148;0.338;0.695;0.97	T	0.24693	-1.0153	10	0.31617	T	0.26	.	11.3733	0.49713	0.3264:0.6736:0.0:0.0	.	341;204;294;353;353	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	S	353;353;204;341;187;187	ENSP00000312244:R353S;ENSP00000338078:R353S;ENSP00000354562:R204S;ENSP00000381538:R341S;ENSP00000370069:R187S;ENSP00000370068:R187S	ENSP00000312244:R353S	R	+	1	0	MSL3	11693655	0.944000	0.32072	0.388000	0.26195	0.781000	0.44180	1.991000	0.40727	0.733000	0.32492	0.600000	0.82982	CGC		0.622	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		44	42	1	0	8.48e-36	1.25e-35	44	42				
MAGEB2	4113	broad.mit.edu	37	X	30237175	30237175	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:30237175C>A	ENST00000378988.4	+	2	579	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTCTGAGGGCCTCAGTGTTGT	0.463																																						uc004dbz.2		NA																	0				ovary(1)	1						c.(478-480)CTC>ATC		melanoma antigen family B, 2							52.0	48.0	49.0					X																	30237175		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237175C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.478C>A	X.37:g.30237175C>A	ENSP00000368273:p.Leu160Ile						p.L160I	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	581	+			160			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.478C>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	3.655	-0.070709	0.07228	.	.	ENSG00000099399	ENST00000378988	T	0.19394	2.15	3.27	-3.06	0.05379	.	0.570502	0.18832	N	0.129921	T	0.11707	0.0285	L	0.31294	0.92	0.09310	N	1	B	0.31790	0.34	B	0.35114	0.196	T	0.28586	-1.0039	10	0.22706	T	0.39	.	5.9863	0.19436	0.3851:0.4934:0.1215:0.0	.	160	O15479	MAGB2_HUMAN	I	160	ENSP00000368273:L160I	ENSP00000368273:L160I	L	+	1	0	MAGEB2	30147096	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.046000	0.01409	-0.764000	0.04651	0.436000	0.28706	CTC		0.463	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		14	6	1	0	9.31e-06	1.08e-05	14	6				
BCOR	54880	broad.mit.edu	37	X	39933957	39933957	+	Silent	SNP	T	T	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:39933957T>A	ENST00000378444.4	-	4	870	c.642A>T	c.(640-642)tcA>tcT	p.S214S	BCOR_ENST00000342274.4_Silent_p.S214S|BCOR_ENST00000378455.4_Silent_p.S214S|BCOR_ENST00000397354.3_Silent_p.S214S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	214					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATGTTCAGTGAATACTTAT	0.542			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(640-642)TCA>TCT		BCL-6 interacting corepressor isoform c							101.0	79.0	86.0					X																	39933957		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933957T>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.642A>T	X.37:g.39933957T>A						BCOR_uc004dep.3_Silent_p.S214S|BCOR_uc004deo.3_Silent_p.S214S|BCOR_uc004dem.3_Silent_p.S214S|BCOR_uc004deq.3_Silent_p.S214S	p.S214S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	934	-			214					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.642A>T	CCDS48093.1																																																																																				0.542	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		55	22	0	0	0	0	55	22				
MED14	9282	broad.mit.edu	37	X	40513656	40513656	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:40513656G>A	ENST00000324817.1	-	30	4369	c.4251C>T	c.(4249-4251)aaC>aaT	p.N1417N		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1417					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCAGAATGTTGCTGACCA	0.418																																						uc004dex.3		NA																	0				breast(2)|kidney(1)|skin(1)	4						c.(4249-4251)AAC>AAT		mediator complex subunit 14							99.0	85.0	90.0					X																	40513656		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40513656G>A	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4251C>T	X.37:g.40513656G>A						MED14_uc004dey.1_Silent_p.N319N	p.N1417N	NM_004229	NP_004220	O60244	MED14_HUMAN			30	4391	-			1417					Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.4251C>T	CCDS14254.1																																																																																				0.418	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		41	18	0	0	0	0	41	18				
SPIN4	139886	broad.mit.edu	37	X	62570269	62570269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:62570269G>C	ENST00000335144.3	-	1	949	c.430C>G	c.(430-432)Cga>Gga	p.R144G	SPIN4_ENST00000374884.2_Missense_Mutation_p.R126G|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	144					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						ACAGGAGCTCGCGCCAGGACC	0.478																																						uc004dvf.2		NA																	0				ovary(1)|lung(1)	2						c.(430-432)CGA>GGA		spindlin family, member 4							128.0	125.0	126.0					X																	62570269		2090	4182	6272	SO:0001583	missense	139886				gamete generation			g.chrX:62570269G>C	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.430C>G	X.37:g.62570269G>C	ENSP00000334163:p.Arg144Gly						p.R144G	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	950	-			144					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.430C>G	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671187	0.67814	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.50813	0.73;0.73	3.86	1.99	0.26369	.	0.000000	0.64402	D	0.000005	T	0.55593	0.1930	L	0.60455	1.87	0.41960	D	0.990704	P	0.49253	0.921	P	0.56788	0.806	T	0.56703	-0.7935	10	0.87932	D	0	-34.2933	9.5631	0.39383	0.0:0.0:0.6235:0.3764	.	144	Q56A73	SPIN4_HUMAN	G	126;144	ENSP00000364018:R126G;ENSP00000334163:R144G	ENSP00000334163:R144G	R	-	1	2	SPIN4	62486994	1.000000	0.71417	0.891000	0.34965	0.997000	0.91878	4.894000	0.63206	0.389000	0.25086	0.544000	0.68410	CGA		0.478	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		54	36	0	0	0	0	54	36				
ZMYM3	9203	broad.mit.edu	37	X	70467681	70467681	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70467681T>G	ENST00000353904.2	-	12	2238	c.2051A>C	c.(2050-2052)cAg>cCg	p.Q684P	ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q686P|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q686P|ZMYM3_ENST00000373998.1_Missense_Mutation_p.Q684P|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q684P|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	684					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGGCAGGTCTGGGAGCAGTA	0.532																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(2050-2052)CAG>CCG		zinc finger protein 261							56.0	43.0	47.0					X																	70467681		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70467681T>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2051A>C	X.37:g.70467681T>G	ENSP00000343909:p.Gln684Pro					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.Q684P|ZMYM3_uc004dzj.1_Missense_Mutation_p.Q684P	p.Q684P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			12	2138	-	Renal(35;0.156)		684			MYM-type 8.		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2051A>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	22.6	4.307368	0.81247	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.53206	1.2;0.63;1.2;1.21;1.2	4.57	4.57	0.56435	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.64402	D	0.000010	T	0.62097	0.2400	L	0.52011	1.625	0.48901	D	0.999728	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.65356	-0.6188	10	0.72032	D	0.01	-9.6349	13.2815	0.60216	0.0:0.0:0.0:1.0	.	684;684	Q14202-2;Q14202	.;ZMYM3_HUMAN	P	684;684;684;686;686	ENSP00000322845:Q684P;ENSP00000363110:Q684P;ENSP00000343909:Q684P;ENSP00000363096:Q686P;ENSP00000363100:Q686P	ENSP00000322845:Q684P	Q	-	2	0	ZMYM3	70384406	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.751000	0.68720	1.706000	0.51276	0.350000	0.21858	CAG		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	5	0	0	0	0	19	5				
CXCR3	2833	broad.mit.edu	37	X	70836725	70836725	+	Silent	SNP	G	G	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:70836725G>A	ENST00000373693.3	-	2	664	c.597C>T	c.(595-597)aaC>aaT	p.N199N	CXCR3_ENST00000373691.4_Silent_p.N246N	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	199					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGTGGGTGGCGTTGAGGCGCT	0.662																																						uc004eaf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(595-597)AAC>AAT		chemokine (C-X-C motif) receptor 3 isoform A							35.0	30.0	32.0					X																	70836725		2202	4295	6497	SO:0001819	synonymous_variant	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836725G>A	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.597C>T	X.37:g.70836725G>A						BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.N246N	p.N199N	NM_001504	NP_001495	P49682	CXCR3_HUMAN			2	665	-	Renal(35;0.156)		199			Extracellular (Potential).		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	c.597C>T	CCDS14416.1																																																																																				0.662	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			7	3	0	0	0	0	7	3				
RLIM	51132	broad.mit.edu	37	X	73811532	73811532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:73811532C>T	ENST00000332687.6	-	4	1836	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	RLIM_ENST00000349225.2_Missense_Mutation_p.D540N	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	540					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCATCATCATCCTCATTTAAG	0.453																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NA																	0				ovary(2)	2						c.(1618-1620)GAT>AAT		ring finger protein, LIM domain interacting							53.0	43.0	46.0					X																	73811532		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811532C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1618G>A	X.37:g.73811532C>T	ENSP00000328059:p.Asp540Asn					RLIM_uc004ebw.2_Missense_Mutation_p.D540N	p.D540N	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1908	-			540					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1618G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833064	0.71258	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.09817	2.94;2.94	5.26	5.26	0.73747	.	0.144262	0.64402	D	0.000010	T	0.26666	0.0652	L	0.47190	1.495	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.00601	-1.1650	10	0.38643	T	0.18	-0.2358	18.0787	0.89436	0.0:1.0:0.0:0.0	.	540	Q9NVW2	RNF12_HUMAN	N	540	ENSP00000328059:D540N;ENSP00000253571:D540N	ENSP00000328059:D540N	D	-	1	0	RLIM	73728257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.204000	0.70986	0.600000	0.82982	GAT		0.453	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		16	11	0	0	0	0	16	11				
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:123504071C>A	ENST00000371139.4	+	3	546	c.247C>A	c.(247-249)Ctc>Atc	p.L83I	SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000491950.1_3'UTR|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83I|STAG2_ENST00000469481.1_Intron	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373																																						uc004euf.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CTC>ATC		SH2 domain protein 1A isoform 1							114.0	111.0	112.0					X																	123504071		2203	4300	6503	SO:0001583	missense	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123504071C>A	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.247C>A	X.37:g.123504071C>A	ENSP00000360181:p.Leu83Ile					SH2D1A_uc004euh.3_Missense_Mutation_p.L83I|SH2D1A_uc004eug.3_Intron|SH2D1A_uc010nqw.2_Intron|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	p.L83I	NM_002351	NP_002342	O60880	SH21A_HUMAN			3	592	+			83			SH2.		A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.247C>A	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543253	0.65198	.	.	ENSG00000183918	ENST00000371139;ENST00000360027	D;D	0.95622	-3.76;-3.76	5.23	5.23	0.72850	SH2 motif (5);	0.000000	0.64402	D	0.000001	D	0.97670	0.9236	M	0.88842	2.985	0.47245	D	0.999363	D;D	0.69078	0.996;0.997	D;D	0.91635	0.997;0.999	D	0.98089	1.0408	10	0.72032	D	0.01	-13.1415	10.4445	0.44486	0.0:0.9087:0.0:0.0913	.	83;83	O60880-4;O60880	.;SH21A_HUMAN	I	83	ENSP00000360181:L83I;ENSP00000353126:L83I	ENSP00000353126:L83I	L	+	1	0	SH2D1A	123331752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.385000	0.52485	2.160000	0.67779	0.594000	0.82650	CTC		0.373	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351		66	34	1	0	2.18e-39	3.23e-39	66	34				
MAGEC1	9947	broad.mit.edu	37	X	140995750	140995750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:140995750C>T	ENST00000285879.4	+	4	2846	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	854										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGAGTCCTGTGATCTC	0.507										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2560-2562)CCT>TCT		melanoma antigen family C, 1							121.0	127.0	125.0					X																	140995750		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995750C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2560C>T	X.37:g.140995750C>T	ENSP00000285879:p.Pro854Ser	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P854S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2846	+	Acute lymphoblastic leukemia(192;6.56e-05)		854					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2560C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	8.602	0.887118	0.17540	.	.	ENSG00000155495	ENST00000285879	T	0.02121	4.44	1.27	-2.55	0.06288	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	B	0.22003	0.063	B	0.09377	0.004	T	0.44483	-0.9325	9	0.51188	T	0.08	.	3.1685	0.06544	0.0:0.4016:0.2261:0.3724	.	854	O60732	MAGC1_HUMAN	S	854	ENSP00000285879:P854S	ENSP00000285879:P854S	P	+	1	0	MAGEC1	140823416	0.138000	0.22547	0.001000	0.08648	0.007000	0.05969	0.145000	0.16157	-1.659000	0.01488	-1.487000	0.00979	CCT		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		99	74	0	0	0	0	99	74				
AFF2	2334	broad.mit.edu	37	X	148037568	148037568	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:148037568G>C	ENST00000370460.2	+	11	2472	c.1993G>C	c.(1993-1995)Gac>Cac	p.D665H	AFF2_ENST00000286437.5_Missense_Mutation_p.D306H|AFF2_ENST00000342251.3_Missense_Mutation_p.D632H|AFF2_ENST00000370457.5_Missense_Mutation_p.D632H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	665					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCTTCATGACCCACCAAG	0.488																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1993-1995)GAC>CAC		fragile X mental retardation 2							87.0	91.0	90.0					X																	148037568		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037568G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1993G>C	X.37:g.148037568G>C	ENSP00000359489:p.Asp665His					AFF2_uc004fcq.2_Missense_Mutation_p.D655H|AFF2_uc004fcr.2_Missense_Mutation_p.D626H|AFF2_uc011mxb.1_Missense_Mutation_p.D630H|AFF2_uc004fcs.2_Missense_Mutation_p.D632H|AFF2_uc011mxc.1_Missense_Mutation_p.D306H	p.D665H	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2472	+	Acute lymphoblastic leukemia(192;6.56e-05)		665					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1993G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723205	0.68959	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.67	5.67	0.87782	.	0.536654	0.19612	N	0.110117	T	0.60470	0.2271	L	0.42744	1.35	0.37819	D	0.9283	B;B;B;B;B;B	0.20052	0.041;0.007;0.007;0.007;0.007;0.008	B;B;B;B;B;B	0.27887	0.084;0.014;0.014;0.014;0.023;0.038	T	0.59236	-0.7492	10	0.44086	T	0.13	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	306;630;632;626;655;665	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	665;632;632;306	ENSP00000359489:D665H;ENSP00000359486:D632H;ENSP00000345459:D632H;ENSP00000286437:D306H	ENSP00000286437:D306H	D	+	1	0	AFF2	147845268	1.000000	0.71417	0.991000	0.47740	0.914000	0.54420	6.768000	0.74980	2.372000	0.80975	0.600000	0.82982	GAC		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		56	45	0	0	0	0	56	45				
ABCD1	215	broad.mit.edu	37	X	153009062	153009062	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:153009062C>A	ENST00000218104.3	+	10	2510	c.2111C>A	c.(2110-2112)gCg>gAg	p.A704E	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	704					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTGGCGGGCATTCCC	0.682																																						uc004fif.2		NA																	0					0						c.(2110-2112)GCG>GAG		ATP-binding cassette, sub-family D (ALD), member							8.0	8.0	8.0					X																	153009062		2180	4261	6441	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153009062C>A	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.2111C>A	X.37:g.153009062C>A	ENSP00000218104:p.Ala704Glu					ABCD1_uc004fig.2_Missense_Mutation_p.A204E|ABCD1_uc004fih.2_RNA	p.A704E	NM_000033	NP_000024	P33897	ABCD1_HUMAN			10	2510	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		704					Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.2111C>A	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117897	0.77323	.	.	ENSG00000101986	ENST00000218104	D	0.94537	-3.45	4.8	4.8	0.61643	.	0.116331	0.35936	N	0.002895	D	0.91304	0.7258	L	0.56199	1.76	0.80722	D	1	P	0.40578	0.722	B	0.39876	0.312	D	0.89891	0.4037	10	0.02654	T	1	-9.4975	15.8232	0.78676	0.0:1.0:0.0:0.0	.	704	P33897	ABCD1_HUMAN	E	704	ENSP00000218104:A704E	ENSP00000218104:A704E	A	+	2	0	ABCD1	152662256	1.000000	0.71417	0.904000	0.35570	0.969000	0.65631	4.648000	0.61425	1.980000	0.57719	0.523000	0.50628	GCG		0.682	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		4	2	1	0	2.01e-06	2.37e-06	4	2				
C1orf159	54991	broad.mit.edu	37	1	1021283	1021283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:1021283delG	ENST00000379339.1	-	9	738	c.528delC	c.(526-528)cccfs	p.P176fs	C1orf159_ENST00000379320.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000379319.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000437760.1_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000421241.2_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Frame_Shift_Del_p.P140fs|C1orf159_ENST00000448924.1_Frame_Shift_Del_p.P176fs			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	176						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGCAGGCCCTGGGGAGTTTAC	0.627																																						uc001act.2		NA																	0					0						c.(526-528)CCCfs		hypothetical protein LOC54991				12,4254		6,0,2127	60.0	57.0	58.0			-8.4	0.0	1		58	27,8225		13,1,4112	no	frameshift	C1orf159	NM_017891.4		19,1,6239	A1A1,A1R,RR		0.3272,0.2813,0.3116			1021283	39,12479	2203	4299	6502	SO:0001589	frameshift_variant	54991					integral to membrane		g.chr1:1021283delG	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.528delC	1.37:g.1021283delG	ENSP00000368644:p.Pro176fs					C1orf159_uc001acu.2_Frame_Shift_Del_p.P140fs|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Frame_Shift_Del_p.P140fs|C1orf159_uc009vju.1_Frame_Shift_Del_p.P118fs|C1orf159_uc001acn.2_Frame_Shift_Del_p.P140fs|C1orf159_uc001acp.2_Frame_Shift_Del_p.P140fs	p.P176fs	NM_017891	NP_060361	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	9	1014	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	176					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Frame_Shift_Del	DEL	ENST00000379339.1	37	c.528delC																																																																																					0.627	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		12	47	NA	NA	NA	NA	12	47	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34066567	34066567	+	Frame_Shift_Del	DEL	G	G	-	rs114879806	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:34066567delG	ENST00000373380.1	-	23	3593	c.3373delC	c.(3373-3375)cggfs	p.R1125fs	CSMD2_ENST00000373377.1_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000373388.2_Frame_Shift_Del_p.R351fs|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373381.4_Frame_Shift_Del_p.R2252fs			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2254	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCATGCTCCGGGTGAAGACG	0.572																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(6760-6762)CGGfs		CUB and Sushi multiple domains 2							243.0	210.0	221.0					1																	34066567		2203	4300	6503	SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34066567delG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3373delC	1.37:g.34066567delG	ENSP00000362478:p.Arg1125fs					CSMD2_uc001bxm.1_Frame_Shift_Del_p.R2252fs|CSMD2_uc001bxo.1_Frame_Shift_Del_p.R1125fs	p.R2254fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			45	6789	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2254			Extracellular (Potential).|CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Del	DEL	ENST00000373380.1	37	c.6760delC																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		68	201	NA	NA	NA	NA	68	201	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185878573	185878574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:185878573_185878574insA	ENST00000271588.4	+	5	955_956	c.726_727insA	c.(727-729)agcfs	p.S243fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.S243fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	243					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTTGATCCCAGCCTGAAAGA	0.391																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(724-729)CCCAGCfs		hemicentin 1 precursor																																				SO:0001589	frameshift_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878573_185878574insA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.727dupA	1.37:g.185878574_185878574dupA	ENSP00000271588:p.Ser243fs						p.P242fs	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			5	955_956	+			242_243					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	37	c.726_727insA	CCDS30956.1																																																																																				0.391	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		19	74	NA	NA	NA	NA	19	74	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236882193	236882193	+	Splice_Site	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr1:236882193delG	ENST00000366578.4	+	3	407		c.e3-1		ACTN2_ENST00000492634.1_Splice_Site|ACTN2_ENST00000542672.1_Splice_Site	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCATCCAACAGGGGAAAGGCT	0.433																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.e3-1		actinin, alpha 2							98.0	95.0	96.0					1																	236882193		2203	4300	6503	SO:0001630	splice_region_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236882193delG	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.242-1G>-	1.37:g.236882193delG						ACTN2_uc001hyg.2_Splice_Site|ACTN2_uc009xgi.1_Splice_Site_p.G81_splice	p.G81_splice	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	446	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)						B1ANE4|B2RCS5|Q86TF4|Q86TI8	Splice_Site	DEL	ENST00000366578.4	37	c.242_splice	CCDS1613.1																																																																																				0.433	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	Intron	20	71	NA	NA	NA	NA	20	71	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777721	123777721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr11:123777721delG	ENST00000321355.2	+	1	613	c.583delG	c.(583-585)gatfs	p.D195fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CACTTATATTGATGAGCTTTT	0.373																																						uc010saa.1		NA																	0				skin(1)	1						c.(583-585)GATfs		olfactory receptor, family 8, subfamily D,							150.0	157.0	155.0					11																	123777721		2202	4299	6501	SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777721delG	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.583delG	11.37:g.123777721delG	ENSP00000325381:p.Asp195fs						p.D195fs	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	583	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	195			Extracellular (Potential).		Q6IFE9	Frame_Shift_Del	DEL	ENST00000321355.2	37	c.583delG	CCDS31698.1																																																																																				0.373	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		91	107	NA	NA	NA	NA	91	107	---	---	---	---
CHRNA5	1138	broad.mit.edu	37	15	78878992	78878993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr15:78878992_78878993insA	ENST00000299565.5	+	3	464_465	c.264_265insA	c.(265-267)aaafs	p.K89fs	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Frame_Shift_Ins_p.K89fs	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	89					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	taaaGGATGAGAAAAATCAGTT	0.262																																						uc002bdy.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(262-267)GAGAAAfs		cholinergic receptor, nicotinic, alpha 5																																				SO:0001589	frameshift_variant	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78878992_78878993insA		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.269dupA	15.37:g.78878997_78878997dupA	ENSP00000299565:p.Lys89fs					CHRNA5_uc002bdz.2_Frame_Shift_Ins_p.E88fs	p.E88fs	NM_000745	NP_000736	P30532	ACHA5_HUMAN			3	426_427	+			88_89			Extracellular (Potential).		Q15824|Q99554	Frame_Shift_Ins	INS	ENST00000299565.5	37	c.264_265insA	CCDS10304.1																																																																																				0.262	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			89	115	NA	NA	NA	NA	89	115	---	---	---	---
MC2R	4158	broad.mit.edu	37	18	13885215	13885216	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr18:13885215_13885216insG	ENST00000327606.3	-	2	482_483	c.302_303insC	c.(301-303)acafs	p.T101fs		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	101					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTCATCGGCTGTGGTTTCAAA	0.48																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1		NA																	0				ovary(4)|skin(1)	5						c.(301-303)ACAfs		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)																																			SO:0001589	frameshift_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885215_13885216insG		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.303dupC	18.37:g.13885216_13885216dupG	ENSP00000333821:p.Thr101fs						p.T101fs	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	479_480	-			101			Extracellular (By similarity).		A8K016|Q3MI45|Q504X6	Frame_Shift_Ins	INS	ENST00000327606.3	37	c.302_303insC	CCDS11869.1																																																																																				0.480	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			9	299	NA	NA	NA	NA	9	299	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48059803	48059804	+	Frame_Shift_Ins	INS	-	-	T	rs373737350		TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr2:48059803_48059804insT	ENST00000403359.3	-	10	1239_1240	c.1167_1168insA	c.(1165-1170)gtatgtfs	p.C390fs	FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.C306fs|FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.C306fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	390					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACTAACACATACTGCAGAAC	0.332			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(913-918)GTATGTfs		F-box only protein 11 isoform 1																																				SO:0001589	frameshift_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48059803_48059804insT	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1168dupA	2.37:g.48059804_48059804dupT	ENSP00000384823:p.Cys390fs					FBXO11_uc002rwe.2_Frame_Shift_Ins_p.V305fs|FBXO11_uc002rwf.2_Frame_Shift_Ins_p.V305fs|FBXO11_uc002rwg.1_Frame_Shift_Ins_p.V305fs|FBXO11_uc010fbk.2_5'Flank	p.V305fs	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1029_1030	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	389_390					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	ENST00000403359.3	37	c.915_916insA	CCDS54357.1																																																																																				0.332	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		41	78	NA	NA	NA	NA	41	78	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50899572	50899589	+	Splice_Site	DEL	GCGCACCGCGCCCCACCT	GCGCACCGCGCCCCACCT	-	rs374708421|rs369279620|rs535052438|rs115010488	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT	ENST00000390679.3	-	23	3150_3152	c.2966_2968delAGGTGGGGCGCGGTGCGC	c.(2965-2970)caggtg>ctg	p.989_990QV>L	SBF1_ENST00000348911.6_Splice_Site_p.990_991QV>L|SBF1_ENST00000380817.3_Splice_Site_p.989_990QV>L			O95248	MTMR5_HUMAN	SET binding factor 1	989					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCA	0.624																																						uc003blh.2		NA																	0					0						c.e23+1		SET binding factor 1																																				SO:0001630	splice_region_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899572_50899589delGCGCACCGCGCCCCACCT	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2967+1AGGTGGGGCGCGGTGCGC>-	22.37:g.50899572_50899589delGCGCACCGCGCCCCACCT						SBF1_uc011arx.1_Splice_Site_p.Q653_splice|SBF1_uc003bli.2_3'UTR	p.Q989_splice	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	23	3162	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Splice_Site	DEL	ENST00000390679.3	37	c.2967_splice																																																																																					0.624	SBF1-201	KNOWN	basic	protein_coding	protein_coding			In_Frame_Del	9	28	NA	NA	NA	NA	9	28	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140122626	140122626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:140122626delG	ENST00000458420.3	+	3	578	c.388delG	c.(388-390)ggtfs	p.G130fs	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTATGACTGTGGTGCTGGGCC	0.587										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(388-390)GGTfs		calsyntenin 2 precursor							103.0	97.0	99.0					3																	140122626		2203	4300	6503	SO:0001589	frameshift_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140122626delG	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.388delG	3.37:g.140122626delG	ENSP00000402460:p.Gly130fs	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Frame_Shift_Del_p.G130fs	p.G130fs	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			3	578	+			130			Extracellular (Potential).|Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Frame_Shift_Del	DEL	ENST00000458420.3	37	c.388delG	CCDS3112.1																																																																																				0.587	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		52	108	NA	NA	NA	NA	52	108	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172835328	172835329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:172835328_172835329insT	ENST00000351008.3	-	2	376_377	c.193_194insA	c.(193-195)atgfs	p.M65fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	65					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)			GCCCTTTGTCATTTTTGTTCTT	0.401																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(193-195)ATGfs		spermatogenesis associated 16																																				SO:0001589	frameshift_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835328_172835329insT	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.194dupA	3.37:g.172835333_172835333dupT	ENSP00000341765:p.Met65fs						p.M65fs	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	351_352	-	Ovarian(172;0.00319)|Breast(254;0.197)		65					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	Frame_Shift_Ins	INS	ENST00000351008.3	37	c.193_194insA	CCDS3221.1																																																																																				0.401	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		84	305	NA	NA	NA	NA	84	305	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294701	184294701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:184294701delC	ENST00000330394.2	+	5	1536	c.1084delC	c.(1084-1086)cccfs	p.P362fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	362	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTGGAGTGAGCCCCGGGACCT	0.577																																						uc003foz.2		NA																	0		p.P362P(1)		lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1084-1086)CCCfs		ephrin receptor EphB3 precursor							99.0	98.0	98.0					3																	184294701		2203	4300	6503	SO:0001589	frameshift_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294701delC	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1084delC	3.37:g.184294701delC	ENSP00000332118:p.Pro362fs						p.P362fs	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1521	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		362			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Frame_Shift_Del	DEL	ENST00000330394.2	37	c.1084delC	CCDS3268.1																																																																																				0.577	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		56	163	NA	NA	NA	NA	56	163	---	---	---	---
PAK2	5062	broad.mit.edu	37	3	196541368	196541368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr3:196541368delG	ENST00000327134.3	+	11	1304	c.982delG	c.(982-984)gggfs	p.G329fs		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	329	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			G -> R (in Ref. 3; AAA75468). {ECO:0000305}.	apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		ATACCTTGCTGGGGGGTCACT	0.408																																						uc003fwy.3		NA																	0				ovary(1)|lung(1)	2						c.(982-984)GGGfs		p21-activated kinase 2							164.0	159.0	161.0					3																	196541368		2203	4300	6503	SO:0001589	frameshift_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196541368delG	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.982delG	3.37:g.196541368delG	ENSP00000314067:p.Gly329fs						p.G328fs	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)	11	1304	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		328			Protein kinase.		Q13154|Q6ISC3	Frame_Shift_Del	DEL	ENST00000327134.3	37	c.982delG	CCDS3321.1																																																																																				0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		63	204	NA	NA	NA	NA	63	204	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176700778	176700779	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr5:176700778_176700779delAT	ENST00000439151.2	+	17	5660_5661	c.5615_5616delAT	c.(5614-5616)catfs	p.H1872fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.H1769fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.H1603fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.H1603fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1872					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)		CCTTATAAACATATAAAGGTGA	0.45			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.(5614-5616)CATfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	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.chr5:176700778_176700779delAT	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.5615_5616delAT	5.37:g.176700780_176700781delAT	ENSP00000395929:p.His1872fs	HNSCC(47;0.14)				NSD1_uc003mft.3_Frame_Shift_Del_p.H1603fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.H1769fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.H1520fs	p.H1872fs	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)	17	5753_5754	+	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)	1872					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.5615_5616delAT	CCDS4412.1																																																																																				0.450	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	25	NA	NA	NA	NA	21	25	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130497054	130497054	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:130497054delG	ENST00000368134.2	-	10	1362	c.754delC	c.(754-756)cgafs	p.R253fs	SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.R253fs|SAMD3_ENST00000532763.1_Frame_Shift_Del_p.R251fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.R277fs	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	253										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGCCTCTTCGGTGTCCAAAT	0.348																																						uc003qbv.2		NA																	0				ovary(1)	1						c.(754-756)CGAfs		sterile alpha motif domain containing 3 isoform							116.0	118.0	117.0					6																	130497054		2202	4300	6502	SO:0001589	frameshift_variant	154075							g.chr6:130497054delG	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.754delC	6.37:g.130497054delG	ENSP00000357116:p.Arg253fs					SAMD3_uc003qbx.2_Frame_Shift_Del_p.R252fs|SAMD3_uc003qbw.2_Frame_Shift_Del_p.R252fs|SAMD3_uc010kfg.1_3'UTR	p.R252fs	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	9	1080	-			252					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Frame_Shift_Del	DEL	ENST00000368134.2	37	c.754delC	CCDS34539.1																																																																																				0.348	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		53	246	NA	NA	NA	NA	53	246	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157470017	157470018	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr6:157470017_157470018delTG	ENST00000350026.5	+	8	2773_2774	c.2772_2773delTG	c.(2770-2775)actgtgfs	p.V925fs	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.V925fs|ARID1B_ENST00000346085.5_Frame_Shift_Del_p.V938fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.V867fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	925					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATGCCAACTGTGAACCGTAA	0.604																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(2596-2601)ACTGTGfs		AT rich interactive domain 1B (SWI1-like)																																				SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157470017_157470018delTG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2772_2773delTG	6.37:g.157470019_157470020delTG	ENSP00000055163:p.Val925fs					ARID1B_uc003qqo.2_Frame_Shift_Del_p.T879fs|ARID1B_uc003qqp.2_Frame_Shift_Del_p.T866fs|ARID1B_uc003qqq.1_Frame_Shift_Del_p.T308fs|ARID1B_uc010kjl.2_Frame_Shift_Del_p.T64fs	p.T866fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2750_2751	+		Breast(66;0.000162)|Ovarian(120;0.0265)	924_925					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	ENST00000350026.5	37	c.2598_2599delTG	CCDS5251.2																																																																																				0.604	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		47	43	NA	NA	NA	NA	47	43	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110453596	110453596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr8:110453596delG	ENST00000378402.5	+	34	4296	c.4192delG	c.(4192-4194)gggfs	p.G1398fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1398	IPT/TIG 7.				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)			TACCAACAATGGGAAAGATTC	0.289										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4192-4194)GGGfs		fibrocystin L precursor							39.0	39.0	39.0					8																	110453596		1809	4056	5865	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110453596delG	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.4192delG	8.37:g.110453596delG	ENSP00000367655:p.Gly1398fs	HNSCC(38;0.096)					p.G1398fs	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		34	4296	+			1398			Extracellular (Potential).|IPT/TIG 7.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.4192delG	CCDS47911.1																																																																																				0.289	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	32	NA	NA	NA	NA	11	32	---	---	---	---
C9orf72	203228	broad.mit.edu	37	9	27561618	27561620	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:27561618_27561620delATC	ENST00000380003.3	-	5	691_693	c.628_630delGAT	c.(628-630)gatdel	p.D210del	C9orf72_ENST00000379997.3_In_Frame_Del_p.D210del|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	210					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TGTCACCAATATCATCATCATTG	0.315																																						uc003zqq.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(628-630)GATdel		hypothetical protein LOC203228 isoform a																																				SO:0001651	inframe_deletion	203228							g.chr9:27561618_27561620delATC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.628_630delGAT	9.37:g.27561624_27561626delATC	ENSP00000369339:p.Asp210del					C9orf72_uc003zqr.1_In_Frame_Del_p.D210del	p.D210del	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	5	725_727	-		all_neural(11;7.57e-10)	210					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	In_Frame_Del	DEL	ENST00000380003.3	37	c.628_630delGAT	CCDS6522.1																																																																																				0.315	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		29	98	NA	NA	NA	NA	29	98	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606272	93606273	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:93606272_93606273insG	ENST00000375754.4	+	2	240_241	c.92_93insG	c.(91-96)caggggfs	p.QG31fs	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375751.4_Frame_Shift_Ins_p.QG31fs|SYK_ENST00000375746.1_Frame_Shift_Ins_p.QG31fs|SYK_ENST00000375747.1_Frame_Shift_Ins_p.QG31fs	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	31	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TACCTGGTCCAGGGGGGCATGA	0.619			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(91-93)CAGfs		spleen tyrosine kinase isoform 1																																				SO:0001589	frameshift_variant	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606272_93606273insG	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.98dupG	9.37:g.93606278_93606278dupG	ENSP00000364907:p.Gln31fs					SYK_uc004aqy.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004ara.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004arb.2_Frame_Shift_Ins_p.Q31fs|SYK_uc004arc.2_Frame_Shift_Ins_p.Q31fs|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.Q31fs	NM_003177	NP_003168	P43405	KSYK_HUMAN			2	297_298	+			31			SH2 1.			Frame_Shift_Ins	INS	ENST00000375754.4	37	c.92_93insG	CCDS6688.1																																																																																				0.619	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			17	18	NA	NA	NA	NA	17	18	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139407552	139407552	+	Frame_Shift_Del	DEL	C	C	-	rs561956078	byFrequency	TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chr9:139407552delC	ENST00000277541.6	-	15	2463	c.2388delG	c.(2386-2388)gcgfs	p.A796fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	796	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGGTTGGACGCACACTCGT	0.622			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2386-2388)GCGfs		notch1 preproprotein							108.0	115.0	113.0					9																	139407552		2151	4237	6388	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407552delC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2388delG	9.37:g.139407552delC	ENSP00000277541:p.Ala796fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Frame_Shift_Del_p.A26fs	p.A796fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	15	2388	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	796			Extracellular (Potential).|EGF-like 21; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.2388delG	CCDS43905.1																																																																																				0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		26	36	NA	NA	NA	NA	26	36	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44733171	44733172	+	Splice_Site	INS	-	-	G			TCGA-CV-5441-01A-01D-1512-08	TCGA-CV-5441-11A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f57f2873-a4ae-4fc0-9d4c-e1f4ef47482e	79ffab90-e307-45fb-a6ce-0d9aea0b7552	g.chrX:44733171_44733172insG	ENST00000377967.4	+	2	204_205	c.163_164insG	c.(163-165)cgc>cGgc	p.R55fs	KDM6A_ENST00000543216.1_Splice_Site_p.R55fs|KDM6A_ENST00000536777.1_Splice_Site_p.R55fs|KDM6A_ENST00000382899.4_Splice_Site_p.R55fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	55	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(8)|p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTCCACAGCCGCCTCTTTGGG	0.649			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		14	No detectable mRNA/protein(8)|Whole gene deletion(6)	p.0(8)|p.0?(6)	haematopoietic_and_lymphoid_tissue(6)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(163-165)CGCfs		ubiquitously transcribed tetratricopeptide																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44733171_44733172insG	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.162-1->G	X.37:g.44733172_44733172dupG						KDM6A_uc010nhk.2_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mkz.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mla.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mlb.1_Frame_Shift_Ins_p.R55fs|KDM6A_uc011mlc.1_5'UTR	p.R55fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN			2	538_539	+			55					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.163_164insG	CCDS14265.1																																																																																				0.649	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Ins	20	10	NA	NA	NA	NA	20	10	---	---	---	---
