#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3CD	5293	broad.mit.edu	37	1	9781535	9781535	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:9781535G>A	ENST00000377346.4	+	15	2040	c.1845G>A	c.(1843-1845)ctG>ctA	p.L615L	PIK3CD_ENST00000361110.2_Silent_p.L639L|PIK3CD_ENST00000543390.1_Silent_p.L282L|PIK3CD_ENST00000536656.1_Silent_p.L639L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	615	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.L615L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TGCTGCAGCTGGTGCAGGTGC	0.627																																						uc001aqb.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1843-1845)CTG>CTA		catalytic phosphatidylinositol 3-kinase delta							55.0	53.0	53.0					1																	9781535		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9781535G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1845G>A	1.37:g.9781535G>A						PIK3CD_uc010oaf.1_Silent_p.L614L|PIK3CD_uc001aqe.3_Silent_p.L639L	p.L615L	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	15	2053	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	615					A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.1845G>A	CCDS104.1																																																																																				PASS	0.627	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		16	41	16	41	---	---	---	---
AADACL3	126767	broad.mit.edu	37	1	12785921	12785921	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:12785921G>A	ENST00000359318.5	+	4	1216	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	AADACL3_ENST00000332530.3_Missense_Mutation_p.M267I	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	337							hydrolase activity (GO:0016787)	p.M337I(1)|p.M267I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTCCATGAGAATTCTGA	0.512																																						uc009vnn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1009-1011)ATG>ATA		arylacetamide deacetylase-like 3 isoform 1							71.0	65.0	67.0					1																	12785921		1967	4170	6137	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785921G>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.1011G>A	1.37:g.12785921G>A	ENSP00000352268:p.Met337Ile					AADACL3_uc001aug.1_Missense_Mutation_p.M267I	p.M337I	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	1244	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	337					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.1011G>A	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	9.065	0.995498	0.19043	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.08984	3.03;3.03	5.54	-2.51	0.06365	.	3.076840	0.00953	N	0.002987	T	0.03827	0.0108	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34329	-0.9833	10	0.24483	T	0.36	0.3995	2.6275	0.04933	0.2469:0.2213:0.4205:0.1113	.	337;267	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	I	267;337	ENSP00000333352:M267I;ENSP00000352268:M337I	ENSP00000333352:M267I	M	+	3	0	AADACL3	12708508	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.250000	0.08830	-0.287000	0.09064	0.491000	0.48974	ATG		PASS	0.512	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		30	43	30	43	---	---	---	---
TMEM82	388595	broad.mit.edu	37	1	16069353	16069353	+	Silent	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:16069353T>C	ENST00000375782.1	+	2	250	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	38	Leu-rich.					integral component of membrane (GO:0016021)		p.L38L(1)		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)		CCTTGGAGTCTTGGTCCTGAA	0.642																																						uc001axc.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(112-114)TTG>CTG		transmembrane protein 82							29.0	25.0	27.0					1																	16069353		2201	4299	6500	SO:0001819	synonymous_variant	388595					integral to membrane		g.chr1:16069353T>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.112T>C	1.37:g.16069353T>C							p.L38L	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)	2	250	+		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)	38			Leu-rich.|Helical; (Potential).		B2RP27|Q5VVD4	Silent	SNP	ENST00000375782.1	37	c.112T>C	CCDS30608.1																																																																																				PASS	0.642	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		15	20	15	20	---	---	---	---
ACTL8	81569	broad.mit.edu	37	1	18152812	18152812	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:18152812G>C	ENST00000375406.1	+	3	1115	c.899G>C	c.(898-900)gGc>gCc	p.G300A		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	300					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G300A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCTGCGGGGGCAACACCCTC	0.642											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bat.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(898-900)GGC>GCC		actin-like 8							49.0	53.0	52.0					1																	18152812		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152812G>C	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.899G>C	1.37:g.18152812G>C	ENSP00000364555:p.Gly300Ala		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.G300A	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1115	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	300					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.899G>C	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928600	0.73327	.	.	ENSG00000117148	ENST00000375406	T	0.60424	0.19	4.94	4.0	0.46444	.	0.000000	0.46145	D	0.000318	T	0.78278	0.4258	M	0.90483	3.12	0.30018	N	0.814589	D	0.76494	0.999	D	0.69824	0.966	T	0.79001	-0.1981	10	0.87932	D	0	-48.8606	12.4301	0.55569	0.0:0.0:0.8303:0.1697	.	300	Q9H568	ACTL8_HUMAN	A	300	ENSP00000364555:G300A	ENSP00000364555:G300A	G	+	2	0	ACTL8	18025399	1.000000	0.71417	0.947000	0.38551	0.842000	0.47809	4.807000	0.62576	1.142000	0.42291	0.655000	0.94253	GGC		PASS	0.642	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		34	54	34	54	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18691941	18691941	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:18691941C>T	ENST00000251296.1	+	6	1148	c.765C>T	c.(763-765)aaC>aaT	p.N255N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	255						extracellular region (GO:0005576)		p.N255N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAGATCCCAACATCCTCCTCC	0.647																																						uc001bau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(763-765)AAC>AAT		immunoglobin superfamily, member 21 precursor							106.0	115.0	112.0					1																	18691941		2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18691941C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.765C>T	1.37:g.18691941C>T						IGSF21_uc001bav.1_Silent_p.N76N	p.N255N	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	1148	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	255					Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.765C>T	CCDS184.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672615	0.14776	.	.	ENSG00000117154	ENST00000412684	.	.	.	4.81	3.89	0.44902	.	.	.	.	.	T	0.56804	0.2010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53034	-0.8495	4	.	.	.	-1.9194	7.6963	0.28596	0.0:0.6408:0.2688:0.0904	.	.	.	.	Y	208	.	.	H	+	1	0	IGSF21	18564528	0.015000	0.18098	0.790000	0.31976	0.817000	0.46193	0.227000	0.17795	1.157000	0.42530	-0.258000	0.10820	CAT		PASS	0.647	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		59	117	59	117	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21031387	21031387	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:21031387G>A	ENST00000247986.2	-	5	986	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	KIF17_ENST00000375044.1_Missense_Mutation_p.R126W|KIF17_ENST00000400463.3_Missense_Mutation_p.R226W			Q9P2E2	KIF17_HUMAN	kinesin family member 17	226	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R226W(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCCTTGCCCCGCTCATCTGCA	0.672																																						uc001bdr.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(676-678)CGG>TGG		kinesin family member 17 isoform a							24.0	27.0	26.0					1																	21031387		2202	4298	6500	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031387G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.676C>T	1.37:g.21031387G>A	ENSP00000247986:p.Arg226Trp					KIF17_uc001bds.3_Missense_Mutation_p.R226W	p.R226W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	794	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	226			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.676C>T	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.590856	0.28357	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.73047	-0.71;-0.71;-0.71	5.63	3.74	0.42951	Kinesin, motor domain (4);	0.000000	0.29853	U	0.011027	T	0.59689	0.2212	L	0.46157	1.445	0.18873	N	0.999988	B;B	0.17667	0.007;0.023	B;B	0.15484	0.013;0.007	T	0.54351	-0.8307	10	0.56958	D	0.05	.	5.9845	0.19426	0.1421:0.0:0.5882:0.2697	.	226;226	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	W	126;226;226	ENSP00000364184:R126W;ENSP00000383311:R226W;ENSP00000247986:R226W	ENSP00000247986:R226W	R	-	1	2	KIF17	20903974	0.594000	0.26849	1.000000	0.80357	0.641000	0.38312	1.630000	0.37081	0.822000	0.34565	-0.254000	0.11334	CGG		PASS	0.672	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		27	37	27	37	---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	25944517	25944517	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:25944517G>C	ENST00000374332.4	+	1	559	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	77					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E77Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCCGGCCCGCGAGCAGGAGCC	0.761																																						uc001bkm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(229-231)GAG>CAG		mannosidase, alpha, class 1C, member 1							6.0	8.0	7.0					1																	25944517		2105	4105	6210	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944517G>C	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.229G>C	1.37:g.25944517G>C	ENSP00000363452:p.Glu77Gln					MAN1C1_uc009vry.1_5'UTR	p.E77Q	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	559	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	77			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.229G>C	CCDS265.1	.	.	.	.	.	.	.	.	.	.	g	12.23	1.877049	0.33162	.	.	ENSG00000117643	ENST00000374332	D	0.82711	-1.64	4.17	2.22	0.28083	.	30.066400	0.00496	N	0.000142	T	0.69975	0.3171	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54853	-0.8231	10	0.18276	T	0.48	.	5.5126	0.16888	0.1119:0.2031:0.6851:0.0	.	77	Q9NR34	MA1C1_HUMAN	Q	77	ENSP00000363452:E77Q	ENSP00000363452:E77Q	E	+	1	0	MAN1C1	25817104	0.001000	0.12720	0.129000	0.21949	0.494000	0.33585	0.421000	0.21280	0.371000	0.24564	0.558000	0.71614	GAG		PASS	0.761	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		6	10	6	10	---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31447598	31447598	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:31447598T>G	ENST00000257075.5	-	10	1499	c.1406A>C	c.(1405-1407)tAc>tCc	p.Y469S	PUM1_ENST00000440538.2_Missense_Mutation_p.Y470S|PUM1_ENST00000424085.2_Missense_Mutation_p.Y227S|PUM1_ENST00000373741.4_Missense_Mutation_p.Y505S|PUM1_ENST00000373742.2_Missense_Mutation_p.Y410S|PUM1_ENST00000426105.2_Missense_Mutation_p.Y469S|PUM1_ENST00000423018.2_Missense_Mutation_p.Y373S|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000373747.3_Missense_Mutation_p.Y470S	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	469	Ala-rich.			Y -> N (in Ref. 4; BAD96325). {ECO:0000305}.	membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)	p.Y469S(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ACTGGCAGGGTAGACTCCCCA	0.517																																						uc001bsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1405-1407)TAC>TCC		pumilio 1 isoform 2							50.0	51.0	50.0					1																	31447598		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31447598T>G	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1406A>C	1.37:g.31447598T>G	ENSP00000257075:p.Tyr469Ser					PUM1_uc001bsf.1_Missense_Mutation_p.Y135S|PUM1_uc001bsg.1_Missense_Mutation_p.Y282S|PUM1_uc001bsh.1_Missense_Mutation_p.Y469S|PUM1_uc001bsj.1_Missense_Mutation_p.Y470S|PUM1_uc010oga.1_Missense_Mutation_p.Y373S|PUM1_uc001bsk.1_Missense_Mutation_p.Y505S|PUM1_uc010ogb.1_Missense_Mutation_p.Y410S	p.Y469S	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	10	1519	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	469			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1406A>C	CCDS338.1	.	.	.	.	.	.	.	.	.	.	T	31	5.088566	0.94100	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.50813	1.35;0.73;1.04;1.02;1.34;0.97;1.37;0.96	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.996;0.979;0.996;0.991;0.996;0.996;0.996	T	0.71629	-0.4535	10	0.72032	D	0.01	-6.8699	16.8061	0.85666	0.0:0.0:0.0:1.0	.	410;373;505;470;469;469;470	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4	.;.;.;.;PUM1_HUMAN;.;.	S	227;469;470;207;469;470;505;373;410;469	ENSP00000400141:Y227S;ENSP00000257075:Y469S;ENSP00000362852:Y470S;ENSP00000391723:Y469S;ENSP00000401777:Y470S;ENSP00000362846:Y505S;ENSP00000399440:Y373S;ENSP00000362847:Y410S	ENSP00000257075:Y469S	Y	-	2	0	PUM1	31220185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.966000	0.87956	2.367000	0.80283	0.528000	0.53228	TAC		PASS	0.517	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			4	34	4	34	---	---	---	---
COL9A2	1298	broad.mit.edu	37	1	40775613	40775613	+	Silent	SNP	G	G	A	rs140305893		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:40775613G>A	ENST00000372748.3	-	16	939	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	281	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GACTCACCTCGTCACCCTTCT	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21605	0.0		0.0	False		,,,				2504	0.0					uc001cfh.1																			3	Substitution - coding silent(2)|Substitution - Missense(1)		urinary_tract(1)|lung(1)|endometrium(1)	ovary(2)	2						c.(841-843)GAC>GAT		alpha 2 type IX collagen precursor		G		1,4405		0,1,2202	118.0	111.0	114.0		843	-4.3	0.5	1	dbSNP_134	114	1,8599		0,1,4299	no	coding-synonymous	COL9A2	NM_001852.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		281/690	40775613	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775613G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.843C>T	1.37:g.40775613G>A						COL9A2_uc001cfi.1_Silent_p.D100D	p.D281D	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		16	913	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	281			Triple-helical region 3 (COL3).		B2RMP9	Silent	SNP	ENST00000372748.3	37	c.843C>T	CCDS450.1																																																																																				PASS	0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		53	72	53	72	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44169289	44169289	+	Splice_Site	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:44169289G>C	ENST00000372396.3	+	20	2977	c.2843G>C	c.(2842-2844)aGc>aCc	p.S948T	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	948	Tudor 1.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S948T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTTCCTCAGAGCCAGGACTGT	0.532																																						uc001cjx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2842-2844)AGC>ACC		jumonji domain containing 2A							203.0	197.0	199.0					1																	44169289		2203	4300	6503	SO:0001630	splice_region_variant	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44169289G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2842-1G>C	1.37:g.44169289G>C						uc001cjy.2_RNA|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_Intron	p.S948T	NM_014663	NP_055478	O75164	KDM4A_HUMAN			20	3009	+			948			Tudor 1.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2843G>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358972	0.61403	.	.	ENSG00000066135	ENST00000372396	T	0.19532	2.14	5.99	5.99	0.97316	Tudor domain (1);	0.106709	0.85682	D	0.000000	T	0.38746	0.1052	M	0.78049	2.395	0.45899	D	0.998742	P	0.52463	0.953	P	0.47603	0.551	T	0.21999	-1.0229	10	0.59425	D	0.04	-6.8534	20.4777	0.99188	0.0:0.0:1.0:0.0	.	948	O75164	KDM4A_HUMAN	T	948	ENSP00000361473:S948T	ENSP00000361473:S948T	S	+	2	0	KDM4A	43941876	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.620000	0.61226	2.840000	0.97914	0.655000	0.94253	AGC		PASS	0.532	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	Missense_Mutation	8	227	8	227	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44878026	44878026	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:44878026G>T	ENST00000355387.2	+	2	707	c.257G>T	c.(256-258)cGt>cTt	p.R86L	RNF220_ENST00000372247.2_Missense_Mutation_p.R86L|RNF220_ENST00000361799.2_Missense_Mutation_p.R86L			Q5VTB9	RN220_HUMAN	ring finger protein 220	86					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R86L(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTGCCAATCGTGATTTCCCC	0.502																																						uc001clv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(256-258)CGT>CTT		ring finger protein 220							309.0	298.0	302.0					1																	44878026		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878026G>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.257G>T	1.37:g.44878026G>T	ENSP00000347548:p.Arg86Leu					RNF220_uc001clw.1_Missense_Mutation_p.R86L	p.R86L	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			2	617	+			86					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.257G>T	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702303	0.68501	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.120266	0.53938	D	0.000043	T	0.72486	0.3466	L	0.32530	0.975	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.73307	-0.4024	9	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	86	Q5VTB9	RN220_HUMAN	L	86	.	ENSP00000347548:R86L	R	+	2	0	RNF220	44650613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.880000	0.98712	0.655000	0.94253	CGT		PASS	0.502	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		119	234	119	234	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46180008	46180008	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:46180008C>A	ENST00000396478.3	-	8	1542	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	480						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.V480V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TGAGTGCAGCCACACCAAGAT	0.428																																						uc001cou.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1438-1440)GTG>GTT		intracisternal A particle-promoted polypeptide							122.0	105.0	111.0					1																	46180008		2203	4300	6503	SO:0001819	synonymous_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46180008C>A	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1440G>T	1.37:g.46180008C>A						IPP_uc001cos.3_Silent_p.V480V	p.V480V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			8	1707	-	Acute lymphoblastic leukemia(166;0.155)		480			Kelch 4.		A2A6V4|D3DQ11|Q8N5C3	Silent	SNP	ENST00000396478.3	37	c.1440G>T	CCDS30702.1																																																																																				PASS	0.428	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		4	73	4	73	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55529216	55529216	+	Missense_Mutation	SNP	C	C	G	rs533555352	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:55529216C>G	ENST00000302118.5	+	12	2328	c.2038C>G	c.(2038-2040)Cgg>Ggg	p.R680G	PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	680	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R680G(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CATCTGCTGCCGGAGCCGGCA	0.652																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2038-2040)CGG>GGG		proprotein convertase subtilisin/kexin type 9							27.0	29.0	28.0					1																	55529216		2201	4288	6489	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55529216C>G	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.2038C>G	1.37:g.55529216C>G	ENSP00000303208:p.Arg680Gly					PCSK9_uc010oom.1_RNA	p.R680G	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			12	2329	+			680					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.2038C>G	CCDS603.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799620	0.50208	.	.	ENSG00000169174	ENST00000302118	T	0.74526	-0.85	3.38	-0.168	0.13343	.	0.091634	0.39834	N	0.001243	T	0.72574	0.3477	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.71192	-0.4665	10	0.87932	D	0	-24.7839	8.6123	0.33811	0.3875:0.4816:0.1309:0.0	.	680	Q8NBP7	PCSK9_HUMAN	G	680	ENSP00000303208:R680G	ENSP00000303208:R680G	R	+	1	2	PCSK9	55301804	0.754000	0.28360	0.878000	0.34440	0.657000	0.38888	0.126000	0.15769	0.200000	0.20447	0.455000	0.32223	CGG		PASS	0.652	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		14	32	14	32	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60314155	60314155	+	Silent	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:60314155A>T	ENST00000371208.3	+	11	1355	c.1098A>T	c.(1096-1098)gcA>gcT	p.A366A	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.A324A	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	366	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.A366A(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AAGCAAATGCAGCACGTACAC	0.308																																						uc009wad.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1096-1098)GCA>GCT		hook homolog 1							73.0	76.0	75.0					1																	60314155		2203	4300	6503	SO:0001819	synonymous_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314155A>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1098A>T	1.37:g.60314155A>T						HOOK1_uc001czo.2_Silent_p.A366A|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.A324A	p.A366A	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			12	1200	+	all_cancers(7;0.000129)		366			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	c.1098A>T	CCDS612.1																																																																																				PASS	0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		38	78	38	78	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103471438	103471438	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:103471438C>T	ENST00000370096.3	-	18	2113	c.1801G>A	c.(1801-1803)Ggg>Agg	p.G601R	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.G613R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G485R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G562R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	601	Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G613R(1)|p.G601R(1)		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)		CCATCAAACCCTCGATCTCCC	0.373																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1801-1803)GGG>AGG		alpha 1 type XI collagen isoform A							83.0	90.0	87.0					1																	103471438		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471438C>T	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.1801G>A	1.37:g.103471438C>T	ENSP00000359114:p.Gly601Arg					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G613R|COL11A1_uc001dun.2_Missense_Mutation_p.G562R|COL11A1_uc009weh.2_Missense_Mutation_p.G485R	p.G601R	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	18	2119	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	601			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1801G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792674	0.90453	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99353	-5.77;-5.53;-5.77;-5.77	5.73	4.82	0.62117	.	0.055530	0.64402	N	0.000001	D	0.99187	0.9718	H	0.98542	4.26	0.80722	D	1	B;B;B;B	0.29162	0.235;0.197;0.197;0.235	B;B;B;B	0.34824	0.19;0.119;0.119;0.19	D	0.99410	1.0930	10	0.87932	D	0	.	14.8357	0.70180	0.0:0.931:0.0:0.069	.	485;562;613;601	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	R	601;613;562;485	ENSP00000359114:G601R;ENSP00000351163:G613R;ENSP00000302551:G562R;ENSP00000426533:G485R	ENSP00000302551:G562R	G	-	1	0	COL11A1	103244026	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.362000	0.79507	1.427000	0.47276	0.655000	0.94253	GGG		PASS	0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		61	103	61	103	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109793500	109793500	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:109793500C>T	ENST00000271332.3	+	1	860	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	267	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P267S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCACGGCATGCCCCGACGAAG	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(799-801)CCC>TCC		cadherin EGF LAG seven-pass G-type receptor 2							103.0	86.0	92.0					1																	109793500		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793500C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.799C>T	1.37:g.109793500C>T	ENSP00000271332:p.Pro267Ser						p.P267S	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	860	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	267			Cadherin 1.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.799C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	25.4	4.629734	0.87660	.	.	ENSG00000143126	ENST00000271332	T	0.01685	4.69	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06280	0.0162	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.31586	-0.9938	9	0.48119	T	0.1	.	18.2175	0.89890	0.0:1.0:0.0:0.0	.	267	Q9HCU4	CELR2_HUMAN	S	267	ENSP00000271332:P267S	ENSP00000271332:P267S	P	+	1	0	CELSR2	109595023	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.609000	0.82925	2.538000	0.85594	0.555000	0.69702	CCC		PASS	0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		21	45	21	45	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113637058	113637058	+	Missense_Mutation	SNP	A	A	G	rs576645250	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:113637058A>G	ENST00000361127.5	+	5	811	c.613A>G	c.(613-615)Agc>Ggc	p.S205G		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	205					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S205G(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TAACCGAATGAGCATGATTCC	0.368													A|||	2	0.000399361	0.0	0.0	5008	,	,		16481	0.002		0.0	False		,,,				2504	0.0					uc001edf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(613-615)AGC>GGC		leucine-rich repeats and immunoglobulin-like							116.0	107.0	110.0					1																	113637058		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113637058A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.613A>G	1.37:g.113637058A>G	ENSP00000355396:p.Ser205Gly					LRIG2_uc009wgn.1_Missense_Mutation_p.S102G	p.S205G	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	811	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	205			LRR 6.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.613A>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927849	0.52759	.	.	ENSG00000198799	ENST00000361127	T	0.26810	1.71	5.65	5.65	0.86999	.	0.185497	0.64402	D	0.000016	T	0.19127	0.0459	M	0.68593	2.085	0.48632	D	0.999683	B	0.12630	0.006	B	0.15484	0.013	T	0.02991	-1.1085	10	0.54805	T	0.06	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	205	O94898	LRIG2_HUMAN	G	205	ENSP00000355396:S205G	ENSP00000355396:S205G	S	+	1	0	LRIG2	113438581	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.040000	0.57333	2.281000	0.76405	0.528000	0.53228	AGC		PASS	0.368	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		3	122	3	122	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120483184	120483184	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:120483184G>C	ENST00000256646.2	-	19	3396	c.3177C>G	c.(3175-3177)aaC>aaG	p.N1059K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1059	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.N1059K(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCTGACAGTTTTTCCCAG	0.478			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(3175-3177)AAC>AAG		notch 2 preproprotein							127.0	126.0	126.0					1																	120483184		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120483184G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3177C>G	1.37:g.120483184G>C	ENSP00000256646:p.Asn1059Lys					NOTCH2_uc001eil.2_Missense_Mutation_p.N1059K	p.N1059K	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	3433	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1059			Extracellular (Potential).|EGF-like 27; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.3177C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133226	0.56828	.	.	ENSG00000134250	ENST00000256646	D	0.99454	-5.92	5.6	4.69	0.59074	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41097	U	0.000945	D	0.98940	0.9640	M	0.83012	2.62	0.58432	D	0.999999	B;D	0.53619	0.033;0.961	B;P	0.54629	0.125;0.757	D	0.99977	1.2247	10	0.15952	T	0.53	.	13.4398	0.61106	0.0752:0.0:0.9248:0.0	.	1059;1059	Q6IQ50;Q04721	.;NOTC2_HUMAN	K	1059	ENSP00000256646:N1059K	ENSP00000256646:N1059K	N	-	3	2	NOTCH2	120284707	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.449000	0.60034	1.375000	0.46248	0.563000	0.77884	AAC		PASS	0.478	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	153	3	153	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					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)	p.C1297R(2)		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)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3889-3891)TGT>CGT		phosphodiesterase 4D interacting protein isoform							46.0	49.0	48.0					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					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.C1253R|PDE4DIP_uc001elv.3_Missense_Mutation_p.C304R	p.C1297R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4180	-			1297					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.3889T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		PASS	0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	127	3	127	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151774208	151774208	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:151774208C>A	ENST00000368820.3	-	2	1910	c.973G>T	c.(973-975)Gcc>Tcc	p.A325S		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	325						integral component of membrane (GO:0016021)		p.A325S(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGGAAGGCAGTCAAGCCA	0.597																																						uc001ezf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(973-975)GCC>TCC		leucine rich repeat and Ig domain containing 4							91.0	85.0	87.0					1																	151774208		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774208C>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.973G>T	1.37:g.151774208C>A	ENSP00000357810:p.Ala325Ser						p.A325S	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1163	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		325			Extracellular (Potential).|LRR 11.			Missense_Mutation	SNP	ENST00000368820.3	37	c.973G>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	7.446	0.641767	0.14451	.	.	ENSG00000213171	ENST00000368820	T	0.77489	-1.1	5.41	4.5	0.54988	.	0.000000	0.49916	D	0.000137	T	0.24586	0.0596	N	0.01188	-0.97	0.09310	N	0.999995	B	0.25904	0.137	B	0.28385	0.089	T	0.29088	-1.0023	10	0.11485	T	0.65	.	7.5508	0.27796	0.0:0.7477:0.166:0.0864	.	325	Q6UY18	LIGO4_HUMAN	S	325	ENSP00000357810:A325S	ENSP00000357810:A325S	A	-	1	0	LINGO4	150040832	0.401000	0.25303	0.899000	0.35326	0.953000	0.61014	1.013000	0.29937	1.526000	0.49068	0.561000	0.74099	GCC		PASS	0.597	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		4	117	4	117	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152383038	152383038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:152383038G>A	ENST00000271835.3	-	3	582	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	174	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.Q174*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGCTCTGGGACTCAGCT	0.577																																						uc001ezx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(520-522)CAG>TAG		cornulin							151.0	164.0	160.0					1																	152383038		2203	4300	6503	SO:0001587	stop_gained	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383038G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.520C>T	1.37:g.152383038G>A	ENSP00000271835:p.Gln174*						p.Q174*	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	594	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		174			Gln-rich.		B2RE60|Q8N613	Nonsense_Mutation	SNP	ENST00000271835.3	37	c.520C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134840	0.56828	.	.	ENSG00000143536	ENST00000271835	.	.	.	4.57	4.57	0.56435	.	0.431784	0.19700	N	0.108076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.7207	0.57140	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000271835:Q174X	Q	-	1	0	CRNN	150649662	0.914000	0.31030	0.029000	0.17559	0.012000	0.07955	1.940000	0.40223	2.355000	0.79922	0.460000	0.39030	CAG		PASS	0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		136	216	136	216	---	---	---	---
LCE1A	353131	broad.mit.edu	37	1	152800058	152800058	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:152800058G>T	ENST00000335123.2	+	1	110	c.110G>T	c.(109-111)tGc>tTc	p.C37F		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	37	Cys-rich.				keratinization (GO:0031424)			p.C37F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ccccctaagtgcccTCCAGTC	0.672																																						uc010pdw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)TGC>TTC		late cornified envelope 1A							57.0	63.0	61.0					1																	152800058		2203	4300	6503	SO:0001583	missense	353131				keratinization			g.chr1:152800058G>T		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.110G>T	1.37:g.152800058G>T	ENSP00000334869:p.Cys37Phe						p.C37F	NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	110	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		37			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.110G>T	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259222	0.23051	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.08634	3.07;3.07	4.33	4.33	0.51752	.	.	.	.	.	T	0.16769	0.0403	M	0.84683	2.71	0.32855	D	0.507137	D	0.58268	0.982	P	0.56474	0.799	T	0.01600	-1.1315	9	0.87932	D	0	.	12.4841	0.55861	0.0:0.0:1.0:0.0	.	37	Q5T7P2	LCE1A_HUMAN	F	37	ENSP00000357755:C37F;ENSP00000334869:C37F	ENSP00000334869:C37F	C	+	2	0	LCE1A	151066682	0.998000	0.40836	0.988000	0.46212	0.868000	0.49771	4.275000	0.58927	2.396000	0.81511	0.563000	0.77884	TGC		PASS	0.672	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		31	65	31	65	---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153906318	153906318	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:153906318G>A	ENST00000361217.4	-	20	3389	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	991					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R879W(1)|p.R991W(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTGATCCCCGGGGTTCCAGG	0.612																																						uc001fdd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2971-2973)CGG>TGG		DENN/MADD domain containing 4B							24.0	26.0	25.0					1																	153906318		1857	3977	5834	SO:0001583	missense	9909							g.chr1:153906318G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2971C>T	1.37:g.153906318G>A	ENSP00000354597:p.Arg991Trp					uc001fdc.1_Intron	p.R991W	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3372	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		991					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2971C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421244	0.42918	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07216	3.21;3.21	4.76	3.82	0.43975	.	0.798993	0.11450	N	0.562918	T	0.02156	0.0067	N	0.19112	0.55	0.35655	D	0.812076	D	0.56968	0.978	B	0.34346	0.18	T	0.51733	-0.8668	10	0.66056	D	0.02	-11.9321	12.9945	0.58638	0.0:0.0:0.8368:0.1632	.	991	O75064	DEN4B_HUMAN	W	991;1002	ENSP00000354597:R991W;ENSP00000357635:R1002W	ENSP00000354597:R991W	R	-	1	2	DENND4B	152172942	0.991000	0.36638	0.958000	0.39756	0.993000	0.82548	1.786000	0.38694	1.162000	0.42619	0.462000	0.41574	CGG		PASS	0.612	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		17	26	17	26	---	---	---	---
RUSC1	23623	broad.mit.edu	37	1	155291733	155291733	+	Missense_Mutation	SNP	G	G	A	rs372651498		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:155291733G>A	ENST00000368352.5	+	2	320	c.169G>A	c.(169-171)Ggc>Agc	p.G57S	RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368354.3_Missense_Mutation_p.G57S|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	57					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.G57S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCCCTGCAGTGGCACCCTGGT	0.672																																						uc001fkj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(169-171)GGC>AGC		RUN and SH3 domain containing 1 isoform a							27.0	30.0	29.0					1																	155291733		1932	4124	6056	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155291733G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.169G>A	1.37:g.155291733G>A	ENSP00000357336:p.Gly57Ser					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.G57S|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	p.G57S	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	398	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		57					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.169G>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011822	0.75046	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.42513	1.05;0.97	4.32	4.32	0.51571	.	0.000000	0.49305	D	0.000159	T	0.36193	0.0958	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21211	-1.0252	10	0.39692	T	0.17	-15.1139	12.172	0.54163	0.0:0.0:1.0:0.0	.	57	Q9BVN2	RUSC1_HUMAN	S	57	ENSP00000357338:G57S;ENSP00000357336:G57S	ENSP00000357336:G57S	G	+	1	0	RUSC1	153558357	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.254000	0.51477	2.243000	0.73865	0.561000	0.74099	GGC		PASS	0.672	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			13	26	13	26	---	---	---	---
GON4L	54856	broad.mit.edu	37	1	155823173	155823173	+	Silent	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:155823173T>C	ENST00000368331.1	-	2	447	c.399A>G	c.(397-399)aaA>aaG	p.K133K	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.K133K|GON4L_ENST00000271883.5_Silent_p.K133K|GON4L_ENST00000361040.5_Silent_p.K133K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	133					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K133K(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTGTCATTTTTTTCCCTC	0.463																																						uc001flz.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)	3						c.(397-399)AAA>AAG		gon-4-like isoform a							130.0	132.0	132.0					1																	155823173		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155823173T>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.399A>G	1.37:g.155823173T>C						GON4L_uc001fly.1_Silent_p.K133K|GON4L_uc009wrh.1_Silent_p.K133K|GON4L_uc001fma.1_Silent_p.K133K|GON4L_uc001fmc.2_Silent_p.K133K|GON4L_uc001fmd.3_Silent_p.K133K|GON4L_uc009wri.2_5'UTR	p.K133K	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			2	496	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		133					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.399A>G																																																																																					PASS	0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		9	213	9	213	---	---	---	---
ETV3L	440695	broad.mit.edu	37	1	157069063	157069063	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:157069063G>T	ENST00000454449.2	-	2	450	c.166C>A	c.(166-168)Cat>Aat	p.H56N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	56					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H56N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCGATGACATGGCGGAACTCT	0.592																																						uc001fqq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(166-168)CAT>AAT		ets variant 3-like							45.0	46.0	46.0					1																	157069063		2203	4294	6497	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157069063G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.166C>A	1.37:g.157069063G>T	ENSP00000430271:p.His56Asn						p.H56N	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			2	451	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	56			ETS.			Missense_Mutation	SNP	ENST00000454449.2	37	c.166C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867687	0.51588	.	.	ENSG00000253831	ENST00000454449	T	0.53857	0.6	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.39210	N	0.001434	T	0.25419	0.0618	N	0.16833	0.445	0.36066	D	0.841816	P	0.37370	0.592	P	0.45276	0.475	T	0.11372	-1.0590	10	0.02654	T	1	.	16.9231	0.86168	0.0:0.0:1.0:0.0	.	56	Q6ZN32	ETV3L_HUMAN	N	56	ENSP00000430271:H56N	ENSP00000430271:H56N	H	-	1	0	ETV3L	155335687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.519000	0.67074	2.500000	0.84329	0.655000	0.94253	CAT		PASS	0.592	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		20	43	20	43	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176661335	176661335	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:176661335G>T	ENST00000367662.3	+	6	3669	c.2505G>T	c.(2503-2505)caG>caT	p.Q835H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	835					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q835H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TAGTCTATCAGCAGTGGACTG	0.498																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2503-2505)CAG>CAT		pappalysin 2 isoform 1							163.0	166.0	165.0					1																	176661335		2039	4199	6238	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661335G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2505G>T	1.37:g.176661335G>T	ENSP00000356634:p.Gln835His					PAPPA2_uc009www.2_RNA	p.Q835H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3669	+			835					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2505G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943203	0.73672	.	.	ENSG00000116183	ENST00000367662	T	0.01918	4.56	5.81	3.84	0.44239	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.05135	0.0137	M	0.69185	2.1	0.80722	D	1	P	0.51933	0.949	P	0.48189	0.57	T	0.32107	-0.9919	10	0.54805	T	0.06	-18.6304	9.1178	0.36769	0.2378:0.0:0.7622:0.0	.	835	Q9BXP8	PAPP2_HUMAN	H	835	ENSP00000356634:Q835H	ENSP00000356634:Q835H	Q	+	3	2	PAPPA2	174927958	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.832000	0.48152	0.702000	0.31825	0.655000	0.94253	CAG		PASS	0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			71	136	71	136	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190195367	190195367	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:190195367C>G	ENST00000367462.3	-	6	1037	c.806G>C	c.(805-807)gGa>gCa	p.G269A	BRINP3_ENST00000534846.1_Missense_Mutation_p.G167A|BRINP3_ENST00000463404.1_5'Flank	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	269					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.G269A(1)									GATAAACTCTCCCTCTGAATT	0.443																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(805-807)GGA>GCA		family with sequence similarity 5, member C							100.0	91.0	94.0					1																	190195367		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190195367C>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.806G>C	1.37:g.190195367C>G	ENSP00000356432:p.Gly269Ala					FAM5C_uc010pot.1_Missense_Mutation_p.G167A	p.G269A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	1038	-	Prostate(682;0.198)		269					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.806G>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698805	0.88830	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.32753	1.66;1.44	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.992	T	0.58567	-0.7614	10	0.87932	D	0	.	17.2877	0.87146	0.0:1.0:0.0:0.0	.	167;269	B7Z260;Q76B58	.;FAM5C_HUMAN	A	269;167	ENSP00000356432:G269A;ENSP00000438022:G167A	ENSP00000356432:G269A	G	-	2	0	FAM5C	188461990	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.379000	0.79691	2.668000	0.90789	0.563000	0.77884	GGA		PASS	0.443	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		22	61	22	61	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197091418	197091418	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:197091418C>A	ENST00000367409.4	-	15	3868	c.3612G>T	c.(3610-3612)gaG>gaT	p.E1204D	ASPM_ENST00000294732.7_Missense_Mutation_p.E1204D|ASPM_ENST00000367408.1_Missense_Mutation_p.E454D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1204	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E1204D(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTGTATAGCTCTGAAGTAT	0.368																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3610-3612)GAG>GAT		asp (abnormal spindle)-like, microcephaly							37.0	38.0	38.0					1																	197091418		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091418C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3612G>T	1.37:g.197091418C>A	ENSP00000356379:p.Glu1204Asp					ASPM_uc001gtv.2_Missense_Mutation_p.E1204D|ASPM_uc001gtw.3_Intron	p.E1204D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			15	3869	-			1204			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3612G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718051	0.30503	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58060	0.36;1.61;1.32	5.74	0.955	0.19602	Calponin homology domain (3);	0.460708	0.21887	N	0.067656	T	0.30947	0.0781	L	0.38531	1.155	0.09310	N	1	P;B	0.42827	0.791;0.033	B;B	0.38378	0.272;0.028	T	0.09552	-1.0669	10	0.18710	T	0.47	.	2.0256	0.03518	0.1237:0.3385:0.1436:0.3943	.	1204;1204	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	D	1204;1204;454	ENSP00000356379:E1204D;ENSP00000294732:E1204D;ENSP00000356378:E454D	ENSP00000294732:E1204D	E	-	3	2	ASPM	195358041	0.010000	0.17322	0.405000	0.26409	0.989000	0.77384	0.020000	0.13466	0.456000	0.26937	-0.324000	0.08512	GAG		PASS	0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		13	25	13	25	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202092290	202092290	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:202092290T>A	ENST00000367282.5	+	1	305	c.199T>A	c.(199-201)Tac>Aac	p.Y67N		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	67					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y67N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GTGGGCGGAGTACCCCCGGCC	0.672																																						uc001gxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(199-201)TAC>AAC		G-protein coupled receptor 37 like 1 precursor							50.0	45.0	47.0					1																	202092290		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202092290T>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.199T>A	1.37:g.202092290T>A	ENSP00000356251:p.Tyr67Asn						p.Y67N	NM_004767	NP_004758	O60883	ETBR2_HUMAN			1	262	+			67			Extracellular (Potential).		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.199T>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115322	0.37339	.	.	ENSG00000170075	ENST00000367282	T	0.79845	-1.31	4.99	4.99	0.66335	.	0.303615	0.27429	N	0.019403	T	0.75391	0.3843	L	0.54323	1.7	0.41634	D	0.989037	B	0.15473	0.013	B	0.08055	0.003	T	0.70934	-0.4737	10	0.28530	T	0.3	-32.7101	12.9076	0.58162	0.0:0.0:0.0:1.0	.	67	O60883	ETBR2_HUMAN	N	67	ENSP00000356251:Y67N	ENSP00000356251:Y67N	Y	+	1	0	GPR37L1	200358913	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.459000	0.45023	1.847000	0.53656	0.379000	0.24179	TAC		PASS	0.672	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		15	7	15	7	---	---	---	---
LAX1	54900	broad.mit.edu	37	1	203743235	203743235	+	Missense_Mutation	SNP	C	C	G	rs371215915		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:203743235C>G	ENST00000442561.2	+	5	1013	c.623C>G	c.(622-624)tCt>tGt	p.S208C	LAX1_ENST00000367217.5_Missense_Mutation_p.S192C|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	208					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.S208C(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTCTAGCTTCTACCAAAAGC	0.478																																						uc001haa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(622-624)TCT>TGT		lymphocyte transmembrane adaptor 1 isoform a							72.0	71.0	71.0					1																	203743235		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743235C>G	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.623C>G	1.37:g.203743235C>G	ENSP00000406970:p.Ser208Cys					LAX1_uc010pql.1_Missense_Mutation_p.S192C|LAX1_uc001hab.2_Missense_Mutation_p.S132C	p.S208C	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1033	+	all_cancers(21;0.0915)		208			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.623C>G	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601660	0.28534	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.3	0.886	0.19194	.	0.808430	0.10944	N	0.616858	T	0.32556	0.0833	L	0.42245	1.32	0.09310	N	1	B;B	0.24618	0.107;0.107	B;B	0.27380	0.079;0.079	T	0.32375	-0.9909	9	0.51188	T	0.08	-0.8703	5.4046	0.16314	0.0:0.4843:0.3301:0.1856	.	192;208	B7Z744;Q8IWV1	.;LAX1_HUMAN	C	208;192	.	ENSP00000356186:S192C	S	+	2	0	LAX1	202009858	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.008000	0.12788	0.581000	0.29539	0.655000	0.94253	TCT		PASS	0.478	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		29	59	29	59	---	---	---	---
TRAF3IP3	80342	broad.mit.edu	37	1	209936905	209936905	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:209936905G>A	ENST00000367024.1	+	8	1191	c.675G>A	c.(673-675)ctG>ctA	p.L225L	TRAF3IP3_ENST00000400959.3_Silent_p.L205L|TRAF3IP3_ENST00000367025.3_Silent_p.L225L|TRAF3IP3_ENST00000367026.3_Silent_p.L205L|TRAF3IP3_ENST00000010338.4_Silent_p.L205L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	225						integral component of membrane (GO:0016021)		p.L205L(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGTCCACTCTGATTCAGGCCT	0.473																																						uc001hho.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(673-675)CTG>CTA		TRAF3-interacting JNK-activating modulator							86.0	91.0	89.0					1																	209936905		2203	4300	6503	SO:0001819	synonymous_variant	80342					integral to membrane	protein binding	g.chr1:209936905G>A		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.675G>A	1.37:g.209936905G>A						TRAF3IP3_uc001hhl.2_Silent_p.L205L|TRAF3IP3_uc001hhm.1_Silent_p.L225L|TRAF3IP3_uc001hhn.2_Silent_p.L205L|TRAF3IP3_uc009xcr.2_Silent_p.L225L	p.L225L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	8	965	+			225			Cytoplasmic (Potential).		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	ENST00000367024.1	37	c.675G>A	CCDS1490.2																																																																																				PASS	0.473	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			24	34	24	34	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223567028	223567028	+	Missense_Mutation	SNP	C	C	G	rs199851348	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:223567028C>G	ENST00000366875.3	+	1	314	c.211C>G	c.(211-213)Cgc>Ggc	p.R71G		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		71	Arg-rich.							p.R71G(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCCGCGGCCTCGCAGGCGCGG	0.726																																						uc001hoa.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(211-213)CGC>GGC		hypothetical protein LOC164127							5.0	7.0	6.0					1																	223567028		1875	3861	5736	SO:0001583	missense	164127							g.chr1:223567028C>G																												ENST00000366875.3:c.211C>G	1.37:g.223567028C>G	ENSP00000355840:p.Arg71Gly						p.R71G	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	314	+			71			Arg-rich.		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.211C>G	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658174	0.29425	.	.	ENSG00000178395	ENST00000366875	T	0.20200	2.09	4.03	0.797	0.18654	.	.	.	.	.	T	0.13286	0.0322	N	0.24115	0.695	0.09310	N	1	B	0.21520	0.057	B	0.17722	0.019	T	0.25082	-1.0142	9	0.62326	D	0.03	.	7.0921	0.25289	0.1842:0.4573:0.3585:0.0	.	71	Q8N715	CA065_HUMAN	G	71	ENSP00000355840:R71G	ENSP00000355840:R71G	R	+	1	0	C1orf65	221633651	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.086000	0.11233	-0.154000	0.11118	0.563000	0.77884	CGC		PASS	0.726	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			9	12	9	12	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236881198	236881198	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:236881198G>A	ENST00000366578.4	+	2	333	c.167G>A	c.(166-168)gGc>gAc	p.G56D	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.G56D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	56	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)	p.G56D(1)		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)			AGGAAAGCCGGCACCCAGATT	0.478																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(166-168)GGC>GAC		actinin, alpha 2							152.0	132.0	139.0					1																	236881198		2203	4300	6503	SO:0001583	missense	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.chr1:236881198G>A	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.167G>A	1.37:g.236881198G>A	ENSP00000355537:p.Gly56Asp					ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.G56D	p.G56D	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		2	371	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	56			CH 1.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.167G>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088865	0.76756	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.62788	0.0;0.0	5.61	5.61	0.85477	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	L	0.31294	0.92	0.80722	D	1	B;D	0.76494	0.212;0.999	B;D	0.87578	0.18;0.998	T	0.72795	-0.4185	10	0.56958	D	0.05	.	18.4129	0.90558	0.0:0.0:1.0:0.0	.	56;56	B2RCS5;P35609	.;ACTN2_HUMAN	D	56	ENSP00000443495:G56D;ENSP00000355537:G56D	ENSP00000355537:G56D	G	+	2	0	ACTN2	234947821	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.597000	0.98273	2.655000	0.90218	0.650000	0.86243	GGC		PASS	0.478	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		3	50	3	50	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255893	240255893	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:240255893G>T	ENST00000319653.9	+	1	714	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	162					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D305Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATCGCCGAGGATGTGGAAAC	0.642																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(484-486)GAT>TAT		formin 2							43.0	46.0	45.0					1																	240255893		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255893G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.484G>T	1.37:g.240255893G>T	ENSP00000318884:p.Asp162Tyr					FMN2_uc010pye.1_Missense_Mutation_p.D162Y	p.D162Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	709	+	Ovarian(103;0.127)	all_cancers(173;0.013)	162					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.484G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071118	0.08436	.	.	ENSG00000155816	ENST00000319653	T	0.33216	1.42	4.35	1.29	0.21616	.	0.470670	0.17804	N	0.161480	T	0.17492	0.0420	L	0.27053	0.805	0.09310	N	0.999999	B	0.09022	0.002	B	0.06405	0.002	T	0.18178	-1.0345	10	0.87932	D	0	.	3.3085	0.07009	0.2243:0.0:0.5685:0.2072	.	162	Q9NZ56	FMN2_HUMAN	Y	162	ENSP00000318884:D162Y	ENSP00000318884:D162Y	D	+	1	0	FMN2	238322516	0.997000	0.39634	0.394000	0.26270	0.457000	0.32468	1.860000	0.39428	0.368000	0.24481	0.313000	0.20887	GAT		PASS	0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	32	15	32	---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248402703	248402703	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:248402703T>C	ENST00000306687.1	+	1	473	c.473T>C	c.(472-474)aTa>aCa	p.I158T		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	158					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)	p.I158T(1)		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)			GATGGGATCATAGTGCTTGCA	0.458																																						uc010pzh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(472-474)ATA>ACA		olfactory receptor, family 2, subfamily M,							149.0	132.0	138.0					1																	248402703		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402703T>C	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.473T>C	1.37:g.248402703T>C	ENSP00000306688:p.Ile158Thr						p.I158T	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	473	+	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)		158			Helical; Name=4; (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.473T>C	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	5.001	0.185799	0.09495	.	.	ENSG00000171180	ENST00000306687	T	0.38077	1.16	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.163797	0.28047	N	0.016810	T	0.32615	0.0835	L	0.41573	1.285	0.09310	N	1	P	0.38535	0.635	P	0.44811	0.461	T	0.14282	-1.0478	10	0.52906	T	0.07	.	6.5828	0.22605	0.0:0.1161:0.0:0.8839	.	158	Q96R27	OR2M4_HUMAN	T	158	ENSP00000306688:I158T	ENSP00000306688:I158T	I	+	2	0	OR2M4	246469326	0.000000	0.05858	0.014000	0.15608	0.042000	0.13812	-0.343000	0.07791	1.562000	0.49601	0.438000	0.28831	ATA		PASS	0.458	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		63	103	63	103	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525386	248525386	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:248525386G>T	ENST00000366475.1	+	1	504	c.504G>T	c.(502-504)atG>atT	p.M168I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M168I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGTCCTCATGAACCATAGGG	0.537																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(502-504)ATG>ATT		olfactory receptor, family 2, subfamily T,							272.0	236.0	248.0					1																	248525386		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525386G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.504G>T	1.37:g.248525386G>T	ENSP00000355431:p.Met168Ile						p.M168I	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	504	+	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)		168			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.504G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116445	0.20795	.	.	ENSG00000196944	ENST00000366475	T	0.01185	5.21	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.106278	0.42053	N	0.000770	T	0.02342	0.0072	M	0.73753	2.245	0.34506	D	0.706579	P	0.35363	0.497	B	0.34722	0.188	T	0.32640	-0.9899	10	0.59425	D	0.04	.	13.5826	0.61911	0.0:0.0:1.0:0.0	.	168	Q8NH00	OR2T4_HUMAN	I	168	ENSP00000355431:M168I	ENSP00000355431:M168I	M	+	3	0	OR2T4	246592009	1.000000	0.71417	0.226000	0.23910	0.123000	0.20343	4.808000	0.62583	1.469000	0.48083	0.485000	0.47835	ATG		PASS	0.537	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		78	161	78	161	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9531254	9531254	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:9531254G>C	ENST00000281419.3	+	23	2787	c.2447G>C	c.(2446-2448)aGc>aCc	p.S816T	ASAP2_ENST00000315273.4_Intron|ASAP2_ENST00000491413.1_Intron	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	816	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.S816T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GACGGTGGAAGCCGGCAGCGA	0.547																																						uc002qzh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2446-2448)AGC>ACC		ArfGAP with SH3 domain, ankyrin repeat and PH							195.0	170.0	178.0					2																	9531254		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9531254G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2447G>C	2.37:g.9531254G>C	ENSP00000281419:p.Ser816Thr					ASAP2_uc002qzi.2_Intron	p.S816T	NM_003887	NP_003878	O43150	ASAP2_HUMAN			23	2787	+			816			Pro-rich.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2447G>C	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326285	0.60743	.	.	ENSG00000151693	ENST00000281419	T	0.56941	0.43	4.4	4.4	0.53042	.	1.081010	0.06912	N	0.807853	T	0.39886	0.1095	N	0.20530	0.585	0.80722	D	1	P	0.37864	0.61	B	0.35182	0.197	T	0.28073	-1.0055	10	0.07325	T	0.83	.	17.5304	0.87813	0.0:0.0:1.0:0.0	.	816	O43150	ASAP2_HUMAN	T	816	ENSP00000281419:S816T	ENSP00000281419:S816T	S	+	2	0	ASAP2	9448705	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.001000	0.76297	2.452000	0.82932	0.467000	0.42956	AGC		PASS	0.547	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		10	162	10	162	---	---	---	---
FAM84A	151354	broad.mit.edu	37	2	14774494	14774494	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:14774494C>G	ENST00000295092.2	+	2	679	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V	FAM84A_ENST00000331243.4_Missense_Mutation_p.L131V|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	131								p.L131V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GCTGCTGTGGCTGCAgcccgc	0.731																																						uc002rbz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(391-393)CTG>GTG		family with sequence similarity 84, member A							4.0	5.0	4.0					2																	14774494		1916	3859	5775	SO:0001583	missense	151354							g.chr2:14774494C>G	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.391C>G	2.37:g.14774494C>G	ENSP00000295092:p.Leu131Val					FAM84A_uc002rca.1_5'Flank	p.L131V	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	633	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		131					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.391C>G	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.918|3.918	-0.018759|-0.018759	0.07681|0.07681	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000540701|ENST00000295092;ENST00000331243;ENST00000359969	.|T;T	.|0.03717	.|3.83;3.83	4.96|4.96	4.08|4.08	0.47627|0.47627	.|.	.|0.134034	.|0.33419	.|N	.|0.004933	T|T	0.02193|0.02193	0.0068|0.0068	N|N	0.12182|0.12182	0.205|0.205	0.33196|0.33196	D|D	0.551557|0.551557	.|P	.|0.38827	.|0.649	.|B	.|0.33042	.|0.157	T|T	0.49513|0.49513	-0.8932|-0.8932	6|10	0.87932|0.33141	D|T	0|0.24	-16.3304|-16.3304	9.4023|9.4023	0.38440|0.38440	0.0:0.8352:0.0:0.1648|0.0:0.8352:0.0:0.1648	.|.	.|131	.|Q96KN4	.|FA84A_HUMAN	G|V	38|131	.|ENSP00000295092:L131V;ENSP00000330681:L131V	ENSP00000443261:A38G|ENSP00000295092:L131V	A|L	+|+	2|1	0|2	FAM84A|FAM84A	14691945|14691945	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.144000|1.144000	0.31565|0.31565	1.189000|1.189000	0.43028|0.43028	0.655000|0.655000	0.94253|0.94253	GCT|CTG		PASS	0.731	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2	NM_145175		11	4	11	4	---	---	---	---
APOB	338	broad.mit.edu	37	2	21232182	21232182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:21232182G>A	ENST00000233242.1	-	26	7685	c.7558C>T	c.(7558-7560)Cga>Tga	p.R2520*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2520					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)	p.R2520*(2)		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)					ATTCGGTCTCGTGTATCTTCT	0.428																																						uc002red.2																			2	Substitution - Nonsense(2)	p.R2520*(1)	large_intestine(1)|lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7558-7560)CGA>TGA		apolipoprotein B precursor	Atorvastatin(DB01076)						131.0	106.0	115.0					2																	21232182		2203	4300	6503	SO:0001587	stop_gained	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.chr2:21232182G>A	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.7558C>T	2.37:g.21232182G>A	ENSP00000233242:p.Arg2520*						p.R2520*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7686	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2520					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.7558C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	48	14.339869	0.99791	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.08	3.14	0.36123	.	0.000000	0.42964	D	0.000633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6926	0.56982	0.0:0.0:0.5773:0.4227	.	.	.	.	X	2520	.	ENSP00000233242:R2520X	R	-	1	2	APOB	21085687	0.991000	0.36638	0.841000	0.33234	0.962000	0.63368	2.161000	0.42358	1.105000	0.41606	0.462000	0.41574	CGA		PASS	0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	39	20	39	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42871302	42871302	+	Silent	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:42871302A>G	ENST00000405094.1	+	6	417	c.417A>G	c.(415-417)tcA>tcG	p.S139S	MTA3_ENST00000405592.1_Silent_p.S83S|MTA3_ENST00000407270.3_Silent_p.S139S|MTA3_ENST00000406652.1_Silent_p.S83S|MTA3_ENST00000406911.1_Silent_p.S139S			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	139	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S139S(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGACCCCTCATTGAAAACAC	0.353																																						uc002rso.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(247-249)TCA>TCG		metastasis associated 1 family, member 3							132.0	119.0	123.0					2																	42871302		1836	4095	5931	SO:0001819	synonymous_variant	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42871302A>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.417A>G	2.37:g.42871302A>G						MTA3_uc002rsp.1_Silent_p.S83S|MTA3_uc002rsq.2_Silent_p.S139S|MTA3_uc002rsr.2_Silent_p.S139S	p.S83S	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			7	919	+			139			BAH.		Q9NSP2|Q9ULF4	Silent	SNP	ENST00000405094.1	37	c.249A>G																																																																																					PASS	0.353	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		25	52	25	52	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68621263	68621263	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:68621263C>T	ENST00000234313.7	+	8	1050	c.871C>T	c.(871-873)Cac>Tac	p.H291Y		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	291	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.H291Y(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGGAGCAATTCACTTGAGAGG	0.458																																						uc002sen.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(871-873)CAC>TAC		pleckstrin							142.0	137.0	139.0					2																	68621263		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68621263C>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.871C>T	2.37:g.68621263C>T	ENSP00000234313:p.His291Tyr					PLEK_uc010fde.2_Silent_p.F289F	p.H291Y	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	8	1033	+		Ovarian(717;0.0129)	291			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.871C>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650498	0.87958	.	.	ENSG00000115956	ENST00000234313	T	0.75260	-0.92	6.16	6.16	0.99307	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.177247	0.64402	D	0.000010	T	0.77909	0.4201	L	0.33624	1.015	0.58432	D	0.999999	P	0.35780	0.52	P	0.49012	0.598	T	0.74150	-0.3758	10	0.44086	T	0.13	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	291	P08567	PLEK_HUMAN	Y	291	ENSP00000234313:H291Y	ENSP00000234313:H291Y	H	+	1	0	PLEK	68474767	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	4.471000	0.60182	2.937000	0.99478	0.650000	0.86243	CAC		PASS	0.458	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		65	116	65	116	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68621303	68621303	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:68621303C>T	ENST00000234313.7	+	8	1090	c.911C>T	c.(910-912)tCa>tTa	p.S304L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	304	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.S304L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGAGCAACTCAAATGGTAAG	0.453																																						uc002sen.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)TCA>TTA		pleckstrin							136.0	131.0	133.0					2																	68621303		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68621303C>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.911C>T	2.37:g.68621303C>T	ENSP00000234313:p.Ser304Leu					PLEK_uc010fde.2_3'UTR	p.S304L	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	8	1073	+		Ovarian(717;0.0129)	304			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.911C>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006495	0.35415	.	.	ENSG00000115956	ENST00000234313	T	0.75589	-0.95	6.16	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.277274	0.41823	D	0.000816	T	0.66636	0.2809	L	0.38692	1.165	0.20307	N	0.999912	B	0.15719	0.014	B	0.23018	0.043	T	0.54497	-0.8285	10	0.28530	T	0.3	.	15.2185	0.73288	0.1403:0.8597:0.0:0.0	.	304	P08567	PLEK_HUMAN	L	304	ENSP00000234313:S304L	ENSP00000234313:S304L	S	+	2	0	PLEK	68474807	0.023000	0.18921	0.800000	0.32199	0.123000	0.20343	2.037000	0.41174	1.596000	0.50062	0.650000	0.86243	TCA		PASS	0.453	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		50	102	50	102	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69271902	69271902	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:69271902T>C	ENST00000303714.4	+	3	575	c.253T>C	c.(253-255)Ttc>Ctc	p.F85L	ANTXR1_ENST00000409349.3_Missense_Mutation_p.F85L|ANTXR1_ENST00000409829.3_Missense_Mutation_p.F85L	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	85	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.F85L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTTTATTGTTTTCTCCACCCG	0.453									Familial Infantile Hemangioma																													uc002sfg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(253-255)TTC>CTC		anthrax toxin receptor 1 isoform 1 precursor							155.0	150.0	152.0					2																	69271902		2203	4300	6503	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69271902T>C	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.253T>C	2.37:g.69271902T>C	ENSP00000301945:p.Phe85Leu					ANTXR1_uc002sfe.2_Missense_Mutation_p.F85L|ANTXR1_uc002sff.2_Missense_Mutation_p.F85L|ANTXR1_uc002sfd.2_Missense_Mutation_p.F85L	p.F85L	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			3	609	+			85			Extracellular (Potential).|VWFA.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.253T>C	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.812175	0.90707	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	D;D;D	0.88586	-2.4;-2.4;-2.4	5.78	5.78	0.91487	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	M	0.88906	2.99	0.51482	D	0.999921	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.85130	0.959;0.957;0.997;0.996	D	0.95515	0.8589	10	0.87932	D	0	-26.5686	12.5064	0.55984	0.0:0.0:0.0:1.0	.	85;85;85;85	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	L	85	ENSP00000301945:F85L;ENSP00000387058:F85L;ENSP00000386494:F85L	ENSP00000301945:F85L	F	+	1	0	ANTXR1	69125406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.043000	0.71004	2.200000	0.70718	0.460000	0.39030	TTC		PASS	0.453	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		36	86	36	86	---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86361473	86361473	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:86361473C>A	ENST00000254630.7	+	20	1668	c.1602C>A	c.(1600-1602)ctC>ctA	p.L534L	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	534					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.L534L(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCCTGATGCTCATGGCAAGGG	0.448																																						uc002sqw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1600-1602)CTC>CTA		pentatricopeptide repeat domain 3 precursor							105.0	88.0	94.0					2																	86361473		2203	4300	6503	SO:0001819	synonymous_variant	55037					mitochondrion	protein binding	g.chr2:86361473C>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1602C>A	2.37:g.86361473C>A						PTCD3_uc002sqx.1_Silent_p.L124L|SNORD94_uc010fgr.1_5'Flank	p.L534L	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			20	1668	+			534					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	ENST00000254630.7	37	c.1602C>A	CCDS33235.1																																																																																				PASS	0.448	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		15	37	15	37	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100209739	100209739	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:100209739T>C	ENST00000409236.2	-	13	2496	c.2384A>G	c.(2383-2385)aAg>aGg	p.K795R	AFF3_ENST00000356421.2_Missense_Mutation_p.K820R|AFF3_ENST00000317233.4_Missense_Mutation_p.K795R|AFF3_ENST00000409579.1_Missense_Mutation_p.K820R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	795					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.K820R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCAGAGTCCTTGGTGGCAGG	0.597																																						uc002tag.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2383-2385)AAG>AGG		AF4/FMR2 family, member 3 isoform 1							57.0	61.0	60.0					2																	100209739		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209739T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2384A>G	2.37:g.100209739T>C	ENSP00000387207:p.Lys795Arg					AFF3_uc002taf.2_Missense_Mutation_p.K820R|AFF3_uc010fiq.1_Missense_Mutation_p.K795R|AFF3_uc010yvr.1_Missense_Mutation_p.K948R|AFF3_uc002tah.1_Missense_Mutation_p.K820R	p.K795R	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2620	-			795					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2384A>G	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	9.080	0.999191	0.19121	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.5	4.35	0.52113	.	0.384909	0.19550	N	0.111600	T	0.57607	0.2065	L	0.46947	1.48	0.38299	D	0.942924	B;B;B	0.29232	0.238;0.127;0.028	B;B;B	0.31869	0.134;0.137;0.006	T	0.55885	-0.8070	10	0.19147	T	0.46	.	10.8026	0.46497	0.0:0.074:0.0:0.926	.	948;795;820	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	795;820;820;795;795;948	ENSP00000317421:K795R;ENSP00000348793:K820R;ENSP00000386834:K820R;ENSP00000387207:K795R	ENSP00000317421:K795R	K	-	2	0	AFF3	99576171	1.000000	0.71417	0.971000	0.41717	0.056000	0.15407	1.977000	0.40589	2.098000	0.63641	0.459000	0.35465	AAG		PASS	0.597	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		24	42	24	42	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103318900	103318900	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:103318900C>G	ENST00000233969.2	+	9	1926	c.1784C>G	c.(1783-1785)tCc>tGc	p.S595C	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	595					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S595C(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AAGGTCACGTCCAGTGAAACT	0.303																																						uc002tca.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(1783-1785)TCC>TGC		solute carrier family 9 (sodium/hydrogen							76.0	83.0	81.0					2																	103318900		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103318900C>G		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1784C>G	2.37:g.103318900C>G	ENSP00000233969:p.Ser595Cys						p.S595C	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			9	1926	+			595			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1784C>G	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382041	0.42207	.	.	ENSG00000115616	ENST00000233969	T	0.45668	0.89	5.73	5.73	0.89815	.	0.718507	0.12669	U	0.448977	T	0.40322	0.1112	L	0.34521	1.04	0.33197	D	0.551593	P	0.40875	0.731	B	0.38842	0.283	T	0.54781	-0.8242	10	0.66056	D	0.02	.	19.8928	0.96935	0.0:1.0:0.0:0.0	.	595	Q9UBY0	SL9A2_HUMAN	C	595	ENSP00000233969:S595C	ENSP00000233969:S595C	S	+	2	0	SLC9A2	102685332	0.987000	0.35691	0.987000	0.45799	0.012000	0.07955	5.335000	0.65929	2.713000	0.92767	0.591000	0.81541	TCC		PASS	0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			40	90	40	90	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131519750	131519750	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:131519750C>A	ENST00000423981.1	+	2	215	c.105C>A	c.(103-105)ggC>ggA	p.G35G	AMER3_ENST00000321420.4_Silent_p.G35G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	35					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G35G(1)									AGGGGACAGGCCCCTGGTCAG	0.617																																						uc002trw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(103-105)GGC>GGA		hypothetical protein LOC205147							18.0	25.0	23.0					2																	131519750		2200	4295	6495	SO:0001819	synonymous_variant	205147							g.chr2:131519750C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.105C>A	2.37:g.131519750C>A						FAM123C_uc010fmv.2_Silent_p.G35G|FAM123C_uc010fms.1_Silent_p.G35G|FAM123C_uc010fmt.1_Silent_p.G35G|FAM123C_uc010fmu.1_Silent_p.G35G	p.G35G	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	295	+	Colorectal(110;0.1)		35					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.105C>A	CCDS2164.1																																																																																				PASS	0.617	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		9	7	9	7	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163044862	163044862	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:163044862G>T	ENST00000188790.4	-	20	1838	c.1631C>A	c.(1630-1632)cCc>cAc	p.P544H	FAP_ENST00000443424.1_Missense_Mutation_p.P519H	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.P544H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTGACTGCAGGGACCACCATA	0.403																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1630-1632)CCC>CAC		fibroblast activation protein, alpha subunit							80.0	74.0	76.0					2																	163044862		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044862G>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1631C>A	2.37:g.163044862G>T	ENSP00000188790:p.Pro544His					FAP_uc010fpc.2_Missense_Mutation_p.P93H|FAP_uc010zct.1_Missense_Mutation_p.P519H|FAP_uc010fpd.2_Missense_Mutation_p.P23H	p.P544H	NM_004460	NP_004451	Q12884	SEPR_HUMAN			20	1839	-			544			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1631C>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066072	0.76187	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.55052	0.54;0.54	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84433	0.5471	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89118	0.3501	10	0.87932	D	0	-23.6362	20.6593	0.99626	0.0:0.0:1.0:0.0	.	519;23;544	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	H	544;519	ENSP00000188790:P544H;ENSP00000411391:P519H	ENSP00000188790:P544H	P	-	2	0	FAP	162753108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.006000	0.93592	2.885000	0.99019	0.655000	0.94253	CCC		PASS	0.403	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			25	26	25	26	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170044654	170044654	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:170044654C>A	ENST00000263816.3	-	49	9439	c.9154G>T	c.(9154-9156)Gat>Tat	p.D3052Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3052	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D3052Y(1)		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)"""	TTATCCTCATCACAGACGAAG	0.512																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9154-9156)GAT>TAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						152.0	137.0	142.0					2																	170044654		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044654C>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.9154G>T	2.37:g.170044654C>A	ENSP00000263816:p.Asp3052Tyr						p.D3052Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9367	-			3052			LDL-receptor class A 24.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9154G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548297	0.86127	.	.	ENSG00000081479	ENST00000263816	D	0.98762	-5.12	5.68	5.68	0.88126	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97684	1.0174	10	0.87932	D	0	.	19.7861	0.96437	0.0:1.0:0.0:0.0	.	3052	P98164	LRP2_HUMAN	Y	3052	ENSP00000263816:D3052Y	ENSP00000263816:D3052Y	D	-	1	0	LRP2	169752900	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.818000	0.86416	2.677000	0.91161	0.650000	0.86243	GAT		PASS	0.512	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		51	73	51	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179400049	179400049	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:179400049C>T	ENST00000591111.1	-	308	96594	c.96370G>A	c.(96370-96372)Gaa>Aaa	p.E32124K	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24892K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24825K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33765K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31197K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24700K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32124	Fibronectin type-III 132. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E31195K(1)|p.E24825K(1)|p.E24892K(1)|p.E31197K(1)|p.E24700K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTATTTTCAGCTATTACC	0.423																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(93589-93591)GAA>AAA		titin isoform N2-A							143.0	132.0	135.0					2																	179400049		1841	4107	5948	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179400049C>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.96370G>A	2.37:g.179400049C>T	ENSP00000465570:p.Glu32124Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24892K|TTN_uc010zfi.1_Missense_Mutation_p.E24825K|TTN_uc010zfj.1_Missense_Mutation_p.E24700K	p.E31197K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	93813	-			32124					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.93589G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.190732	0.78789	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.52	5.52	0.82312	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71400	0.3335	L	0.60957	1.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.72613	-0.4240	9	0.87932	D	0	.	19.8108	0.96545	0.0:1.0:0.0:0.0	.	24700;24825;24892;32124	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31197;24700;24892;24825;24697	ENSP00000343764:E31197K;ENSP00000434586:E24700K;ENSP00000340554:E24892K;ENSP00000352154:E24825K	ENSP00000340554:E24892K	E	-	1	0	TTN	179108295	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.776000	0.85560	2.754000	0.94517	0.557000	0.71058	GAA		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		69	117	69	117	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179418006	179418006	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:179418006C>G	ENST00000591111.1	-	285	84922	c.84698G>C	c.(84697-84699)aGa>aCa	p.R28233T	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21001T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20934T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29874T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27306T|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20809T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28233	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R21001T(1)|p.R20934T(1)|p.R20809T(1)|p.R27304T(1)|p.R27306T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCTTTTCTCCATGTGAC	0.428																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(81916-81918)AGA>ACA		titin isoform N2-A							202.0	197.0	198.0					2																	179418006		1946	4152	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418006C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84698G>C	2.37:g.179418006C>G	ENSP00000465570:p.Arg28233Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21001T|TTN_uc010zfi.1_Missense_Mutation_p.R20934T|TTN_uc010zfj.1_Missense_Mutation_p.R20809T	p.R27306T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82141	-			28233					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.81917G>C		.	.	.	.	.	.	.	.	.	.	C	18.24	3.579913	0.65992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45296	0.1335	N	0.03115	-0.41	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.62407	-0.6861	9	0.87932	D	0	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	20809;20934;21001;28233	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27306;20809;21001;20934;20806	ENSP00000343764:R27306T;ENSP00000434586:R20809T;ENSP00000340554:R21001T;ENSP00000352154:R20934T	ENSP00000340554:R21001T	R	-	2	0	TTN	179126252	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.874000	0.63064	2.736000	0.93811	0.655000	0.94253	AGA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		88	143	88	143	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189975051	189975051	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:189975051T>C	ENST00000374866.3	-	2	496	c.222A>G	c.(220-222)atA>atG	p.I74M		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	74	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.I74M(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGCATTCTATCTTGTCAC	0.507																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(220-222)ATA>ATG		alpha 2 type V collagen preproprotein							109.0	101.0	104.0					2																	189975051		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189975051T>C	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.222A>G	2.37:g.189975051T>C	ENSP00000364000:p.Ile74Met						p.I74M	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		2	497	-			74			VWFC.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.222A>G	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.533199	0.64972	.	.	ENSG00000204262	ENST00000374866	T	0.73363	-0.74	5.44	1.18	0.20946	von Willebrand factor, type C (4);	0.000000	0.56097	D	0.000028	T	0.73682	0.3618	L	0.41961	1.31	0.43756	D	0.996266	D	0.59767	0.986	P	0.61800	0.894	T	0.68492	-0.5394	9	.	.	.	.	6.0916	0.19997	0.2214:0.0:0.4415:0.3371	.	74	P05997	CO5A2_HUMAN	M	74	ENSP00000364000:I74M	.	I	-	3	3	COL5A2	189683296	0.513000	0.26194	0.998000	0.56505	0.973000	0.67179	-0.354000	0.07681	0.401000	0.25424	0.533000	0.62120	ATA		PASS	0.507	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		42	64	42	64	---	---	---	---
FZD7	8324	broad.mit.edu	37	2	202900175	202900175	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:202900175C>A	ENST00000286201.1	+	1	866	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	269					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L269I(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCCTCGACGCTCTTTACCGT	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(805-807)CTC>ATC		frizzled 7 precursor							107.0	108.0	108.0					2																	202900175		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900175C>A	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.805C>A	2.37:g.202900175C>A	ENSP00000286201:p.Leu269Ile		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.L269I	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	866	+			269			Helical; Name=1; (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.805C>A	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272249	0.59649	.	.	ENSG00000155760	ENST00000286201	D	0.83673	-1.75	5.13	5.13	0.70059	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.92041	0.7478	M	0.93197	3.39	0.58432	D	0.999996	P	0.44429	0.835	P	0.53518	0.728	D	0.93138	0.6539	10	0.54805	T	0.06	.	18.7816	0.91934	0.0:1.0:0.0:0.0	.	269	O75084	FZD7_HUMAN	I	269	ENSP00000286201:L269I	ENSP00000286201:L269I	L	+	1	0	FZD7	202608420	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	3.048000	0.49862	2.678000	0.91216	0.563000	0.77884	CTC		PASS	0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		4	194	4	194	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206041301	206041301	+	Splice_Site	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:206041301G>C	ENST00000406610.2	+	13	2131	c.1924G>C	c.(1924-1926)Ggt>Cgt	p.G642R	PARD3B_ENST00000462231.1_Splice_Site_p.G642R|PARD3B_ENST00000349953.3_Splice_Site_p.G642R|PARD3B_ENST00000358768.2_Splice_Site_p.G580R|PARD3B_ENST00000351153.1_Splice_Site_p.G642R	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	642					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.G642R(1)|p.G580R(1)|p.G581R(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAACAGAAAGGTAAGAGTCT	0.353																																						uc002var.1																			3	Substitution - Missense(3)		lung(3)	skin(2)|ovary(1)|breast(1)	4						c.(1924-1926)GGT>CGT		par-3 partitioning defective 3 homolog B isoform							83.0	75.0	78.0					2																	206041301		1863	4100	5963	SO:0001630	splice_region_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206041301G>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1924+1G>C	2.37:g.206041301G>C						PARD3B_uc010fub.1_Missense_Mutation_p.G642R|PARD3B_uc002vao.1_Missense_Mutation_p.G642R|PARD3B_uc002vap.1_Missense_Mutation_p.G580R|PARD3B_uc002vaq.1_Missense_Mutation_p.G642R	p.G642R	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	13	2131	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	642					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1924G>C		.	.	.	.	.	.	.	.	.	.	G	15.25	2.777343	0.49786	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.11712	2.95;2.75;2.95;2.96	5.9	5.9	0.94986	.	0.735823	0.13314	N	0.397276	T	0.07999	0.0200	N	0.14661	0.345	0.24184	N	0.995577	P;B;B;B;B	0.42757	0.789;0.07;0.078;0.135;0.21	B;B;B;B;B	0.38712	0.28;0.016;0.043;0.043;0.043	T	0.38415	-0.9662	10	0.13470	T	0.59	.	17.4224	0.87518	0.0:0.0:1.0:0.0	.	642;642;642;580;642	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	R	642;580;642;642	ENSP00000385848:G642R;ENSP00000351618:G580R;ENSP00000317261:G642R;ENSP00000340280:G642R	ENSP00000340280:G642R	G	+	1	0	PARD3B	205749546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.153000	0.71819	2.786000	0.95864	0.561000	0.74099	GGT		PASS	0.353	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	Missense_Mutation	11	38	11	38	---	---	---	---
UNC80	285175	broad.mit.edu	37	2	210642034	210642034	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:210642034C>A	ENST00000439458.1	+	4	431	c.351C>A	c.(349-351)caC>caA	p.H117Q	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.H117Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	117					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H117Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACACTCTACACTGGATGCTTC	0.542																																						uc010zjc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(349-351)CAC>CAA		chromosome 2 open reading frame 21 isoform 1							63.0	70.0	67.0					2																	210642034		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210642034C>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.351C>A	2.37:g.210642034C>A	ENSP00000391088:p.His117Gln					UNC80_uc002vdj.1_Missense_Mutation_p.H117Q	p.H117Q	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN			4	431	+			117					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.351C>A	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.756942	0.69648	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.45668	0.89;0.9	6.08	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.55081	0.1898	L	0.46157	1.445	0.80722	D	1	D;P	0.76494	0.999;0.82	D;P	0.80764	0.994;0.622	T	0.50825	-0.8782	10	0.38643	T	0.18	.	12.6747	0.56887	0.0:0.8672:0.0:0.1328	.	117;117	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Q	117	ENSP00000391088:H117Q;ENSP00000272845:H117Q	ENSP00000272845:H117Q	H	+	3	2	UNC80	210350279	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.497000	0.22514	0.901000	0.36495	0.655000	0.94253	CAC		PASS	0.542	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		40	89	40	89	---	---	---	---
TMBIM1	64114	broad.mit.edu	37	2	219143279	219143279	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:219143279G>C	ENST00000444881.1	-	7	1157	c.432C>G	c.(430-432)ttC>ttG	p.F144L	PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.F144L|TMBIM1_ENST00000258412.3_Missense_Mutation_p.F144L|TMBIM1_ENST00000445635.1_5'UTR			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	144					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)	p.F144L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGACAACGAAGACAGCAC	0.587																																						uc002vho.1																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)TTC>TTG		transmembrane BAX inhibitor motif containing 1							109.0	95.0	100.0					2																	219143279		2203	4300	6503	SO:0001583	missense	64114					integral to membrane		g.chr2:219143279G>C	BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.432C>G	2.37:g.219143279G>C	ENSP00000409738:p.Phe144Leu					PNKD_uc002vhn.2_Intron|TMBIM1_uc002vhp.1_Missense_Mutation_p.F144L|TMBIM1_uc010zjz.1_5'UTR|TMBIM1_uc010zka.1_Missense_Mutation_p.F33L	p.F144L	NM_022152	NP_071435	Q969X1	TMBI1_HUMAN		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1158	-		Renal(207;0.0474)	144			Helical; (Potential).		B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	ENST00000444881.1	37	c.432C>G	CCDS2412.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582295	0.86748	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000543441;ENST00000429501;ENST00000425694;ENST00000418569	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.8;1.38;1.27	5.28	5.28	0.74379	.	0.050564	0.85682	D	0.000000	T	0.60064	0.2240	L	0.49513	1.565	0.80722	D	1	D;D	0.76494	0.988;0.999	P;D	0.76071	0.74;0.987	T	0.54105	-0.8343	10	0.36615	T	0.2	-31.1932	19.1132	0.93326	0.0:0.0:1.0:0.0	.	82;144	B4DNZ1;Q969X1	.;TMBI1_HUMAN	L	144;144;144;82;144;144;144	ENSP00000258412:F144L;ENSP00000409738:F144L;ENSP00000380025:F144L;ENSP00000399987:F144L;ENSP00000399345:F144L;ENSP00000406744:F144L	ENSP00000258412:F144L	F	-	3	2	TMBIM1	218851523	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	3.125000	0.50469	2.736000	0.93811	0.655000	0.94253	TTC		PASS	0.587	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338559.1	NM_022152		29	36	29	36	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219609911	219609911	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:219609911C>T	ENST00000392102.1	+	6	2081	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	TTLL4_ENST00000442769.1_Missense_Mutation_p.P581S|TTLL4_ENST00000258398.4_Missense_Mutation_p.P581S|TTLL4_ENST00000457313.1_Missense_Mutation_p.P416S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	581					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.P581S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGTCTCTTTCCCAACGTTCC	0.493																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1741-1743)CCC>TCC		tubulin tyrosine ligase-like family, member 4							189.0	184.0	186.0					2																	219609911		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219609911C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1741C>T	2.37:g.219609911C>T	ENSP00000375951:p.Pro581Ser					TTLL4_uc010zkl.1_Missense_Mutation_p.P416S|TTLL4_uc010fvx.2_Missense_Mutation_p.P581S|TTLL4_uc010zkm.1_5'Flank	p.P581S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	6	2111	+		Renal(207;0.0915)	581					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1741C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834890	0.71373	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05025	3.77;3.99;3.51;3.99	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000019	T	0.20495	0.0493	L	0.46157	1.445	0.80722	D	1	P;D;B	0.89917	0.929;1.0;0.376	B;D;B	0.85130	0.416;0.997;0.159	T	0.00065	-1.2148	10	0.52906	T	0.07	.	18.1324	0.89605	0.0:1.0:0.0:0.0	.	416;581;581	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	S	416;581;581;581	ENSP00000393332:P416S;ENSP00000375951:P581S;ENSP00000396555:P581S;ENSP00000258398:P581S	ENSP00000258398:P581S	P	+	1	0	TTLL4	219318155	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.167000	0.71902	2.758000	0.94735	0.655000	0.94253	CCC		PASS	0.493	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		63	119	63	119	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220501117	220501117	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:220501117T>C	ENST00000358055.3	+	15	2797	c.2285T>C	c.(2284-2286)cTg>cCg	p.L762P	SLC4A3_ENST00000373760.2_Missense_Mutation_p.L762P|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L762P|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L789P|SLC4A3_ENST00000273063.6_Missense_Mutation_p.L789P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	762	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.L789P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCAGCCGCTGCTTGTGGTT	0.617																																						uc002vmp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2284-2286)CTG>CCG		solute carrier family 4, anion exchanger, member							83.0	76.0	78.0					2																	220501117		2203	4299	6502	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501117T>C		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2285T>C	2.37:g.220501117T>C	ENSP00000350756:p.Leu762Pro					SLC4A3_uc002vmo.3_Missense_Mutation_p.L789P|SLC4A3_uc010fwm.2_Missense_Mutation_p.L312P|SLC4A3_uc010fwn.1_Missense_Mutation_p.L271P	p.L762P	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2554	+		Renal(207;0.0183)	762			Helical; (Potential).|Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2285T>C	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210950	0.79240	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	4.29	4.29	0.51040	Bicarbonate transporter, C-terminal (1);	0.157646	0.43747	D	0.000523	D	0.94699	0.8290	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.96226	0.9164	10	0.87932	D	0	.	13.8822	0.63688	0.0:0.0:0.0:1.0	.	466;762;789	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	P	762;762;789;789;25;762	ENSP00000350756:L762P;ENSP00000362865:L762P;ENSP00000273063:L789P;ENSP00000362867:L789P;ENSP00000314006:L762P	ENSP00000273063:L789P	L	+	2	0	SLC4A3	220209361	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.707000	0.84623	1.911000	0.55334	0.443000	0.29094	CTG		PASS	0.617	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		37	38	37	38	---	---	---	---
LINC00471	151477	broad.mit.edu	37	2	232374028	232374028	+	RNA	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:232374028C>A	ENST00000313064.2	-	0	390					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471									p.R21S(1)									TGGTATTCTTCCTGCAATTCT	0.478																																						uc002vrx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)AGG>AGT		RecName: Full=Uncharacterized protein C2orf52;							90.0	93.0	92.0					2																	232374028		2203	4300	6503			151477							g.chr2:232374028C>A	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232374028C>A							p.R21S	NR_024079					Epithelial(121;5.72e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	3	391	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)							Missense_Mutation	SNP	ENST00000313064.2	37	c.63G>T																																																																																					PASS	0.478	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		45	63	45	63	---	---	---	---
SEPT2	4735	broad.mit.edu	37	2	242274555	242274555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:242274555G>T	ENST00000391973.2	+	4	673	c.145G>T	c.(145-147)Gga>Tga	p.G49*	SEPT2_ENST00000401990.1_Nonsense_Mutation_p.G49*|SEPT2_ENST00000391971.2_Nonsense_Mutation_p.G49*|SEPT2_ENST00000407971.1_Nonsense_Mutation_p.G9*|SEPT2_ENST00000360051.3_Nonsense_Mutation_p.G49*|SEPT2_ENST00000402092.2_Nonsense_Mutation_p.G49*	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	49	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)	p.G49*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ATCAGGTCTAGGAAAATCGAC	0.373																																						uc002wbc.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(145-147)GGA>TGA		septin 2							85.0	79.0	81.0					2																	242274555		2203	4300	6503	SO:0001587	stop_gained	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242274555G>T	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.145G>T	2.37:g.242274555G>T	ENSP00000375834:p.Gly49*					SEPT2_uc002wbd.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbf.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbg.2_Nonsense_Mutation_p.G49*|SEPT2_uc002wbh.2_Nonsense_Mutation_p.G49*|SEPT2_uc010zop.1_Nonsense_Mutation_p.G84*	p.G49*	NM_001008491	NP_001008491	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	5	566	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	49			GTP.		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Nonsense_Mutation	SNP	ENST00000391973.2	37	c.145G>T	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685063	0.96784	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000428524;ENST00000445030;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000443492;ENST00000437066;ENST00000420786;ENST00000391972;ENST00000449239	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9197	0.97082	0.0:0.0:1.0:0.0	.	.	.	.	X	49;9;49;49;49;9;49;49;9;49;60;49;49;49;9;49;49;84;49	.	ENSP00000353157:G49X	G	+	1	0	SEPT2	241923228	1.000000	0.71417	0.955000	0.39395	0.982000	0.71751	9.536000	0.98067	2.702000	0.92279	0.655000	0.94253	GGA		PASS	0.373	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		7	31	7	31	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242371150	242371150	+	Silent	SNP	G	G	A	rs189731640		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:242371150G>A	ENST00000264042.3	+	9	998	c.828G>A	c.(826-828)aaG>aaA	p.K276K	FARP2_ENST00000545004.1_Silent_p.K276K|FARP2_ENST00000373287.4_Silent_p.K276K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	276	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K276K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TAAGCTTCAAGAGGAAAAGAT	0.299													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12539	0.0		0.0	False		,,,				2504	0.0					uc002wbi.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(826-828)AAG>AAA		FERM, RhoGEF and pleckstrin domain protein 2							121.0	113.0	115.0					2																	242371150		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242371150G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.828G>A	2.37:g.242371150G>A						FARP2_uc010zoq.1_Silent_p.K276K|FARP2_uc010zor.1_Silent_p.K276K	p.K276K	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	9	945	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	276			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.828G>A	CCDS33424.1																																																																																				PASS	0.299	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			40	55	40	55	---	---	---	---
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	C	T	rs148690797		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:42916392C>T	ENST00000316161.4	-	1	1241	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R306Q|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	306					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R306Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587																																						uc003cmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(916-918)CGG>CAG		cytochrome P450, family 8, subfamily B,		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	30.0	28.0	29.0		917	-10.3	0.0	3	dbSNP_134	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP8B1	NM_004391.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	306/502	42916392	2,13004	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916392C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.917G>A	3.37:g.42916392C>T	ENSP00000318867:p.Arg306Gln					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R306Q	p.R306Q	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1242	-			306					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.917G>A	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	4.763	0.141844	0.09083	2.27E-4	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01252	5.1;5.1	5.39	-10.3	0.00346	.	0.685302	0.12927	N	0.427656	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.22080	0.064;0.003	B;B	0.16289	0.015;0.009	T	0.43393	-0.9394	10	0.19590	T	0.45	-4.7685	9.862	0.41120	0.0:0.4397:0.0963:0.4639	.	306;306	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	306	ENSP00000404499:R306Q;ENSP00000318867:R306Q	ENSP00000318867:R306Q	R	-	2	0	CYP8B1	42891396	0.005000	0.15991	0.041000	0.18516	0.219000	0.24729	-0.442000	0.06871	-1.750000	0.01328	-1.069000	0.02264	CGG		PASS	0.587	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		11	9	11	9	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399319	46399319	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:46399319T>C	ENST00000400888.2	+	1	340	c.301T>C	c.(301-303)Tct>Cct	p.S101P	CCR2_ENST00000292301.4_Missense_Mutation_p.S101P|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S101P			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	101					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)	p.S101P(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGCTCACTCTGCTGCAAA	0.433																																						uc003cpn.3																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(301-303)TCT>CCT		chemokine (C-C motif) receptor 2 isoform A							288.0	265.0	272.0					3																	46399319		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399319T>C		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.301T>C	3.37:g.46399319T>C	ENSP00000383681:p.Ser101Pro					CCR2_uc003cpm.3_Missense_Mutation_p.S101P	p.S101P	NM_001123041	NP_001116513	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	786	+			101			Extracellular (Potential).		A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.301T>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644099	0.29246	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.41	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.319686	0.26605	N	0.023447	T	0.51024	0.1650	L	0.58925	1.835	0.23696	N	0.997087	D;P	0.58970	0.984;0.845	P;P	0.59643	0.861;0.612	T	0.40757	-0.9546	10	0.72032	D	0.01	.	8.1778	0.31292	0.0:0.1753:0.0:0.8247	.	101;101	P41597;Q4VBL2	CCR2_HUMAN;.	P	101	ENSP00000399285:S101P;ENSP00000292301:S101P;ENSP00000396736:S101P;ENSP00000383681:S101P	ENSP00000292301:S101P	S	+	1	0	CCR2	46374323	0.817000	0.29147	0.464000	0.27143	0.029000	0.11900	0.503000	0.22610	0.209000	0.20645	-0.256000	0.11100	TCT		PASS	0.433	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		111	170	111	170	---	---	---	---
ALS2CL	259173	broad.mit.edu	37	3	46724759	46724759	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:46724759C>A	ENST00000318962.4	-	10	1053	c.970G>T	c.(970-972)Gac>Tac	p.D324Y	ALS2CL_ENST00000415953.1_Missense_Mutation_p.D324Y	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	324					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D324Y(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACGGGGAAGTCCTTCTTCCCA	0.667																																						uc003cqa.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(2)|skin(1)	5						c.(970-972)GAC>TAC		ALS2 C-terminal like isoform 1							19.0	23.0	22.0					3																	46724759		2202	4296	6498	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46724759C>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.970G>T	3.37:g.46724759C>A	ENSP00000313670:p.Asp324Tyr					ALS2CL_uc003cpz.1_5'Flank|ALS2CL_uc003cqb.1_Missense_Mutation_p.D324Y|ALS2CL_uc003cqc.1_RNA	p.D324Y	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	10	1160	-			324					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.970G>T	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154181	0.38021	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.59772	0.24;0.24	4.55	4.55	0.56014	.	0.451159	0.18658	N	0.134786	T	0.63379	0.2506	M	0.71581	2.175	0.80722	D	1	P	0.45594	0.862	P	0.46718	0.525	T	0.64132	-0.6479	10	0.35671	T	0.21	.	14.9149	0.70789	0.0:1.0:0.0:0.0	.	324	Q60I27	AL2CL_HUMAN	Y	324	ENSP00000313670:D324Y;ENSP00000413223:D324Y	ENSP00000313670:D324Y	D	-	1	0	ALS2CL	46699763	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.597000	0.67577	2.377000	0.81083	0.558000	0.71614	GAC		PASS	0.667	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		14	9	14	9	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47142990	47142990	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:47142990G>A	ENST00000409792.3	-	8	5015	c.4973C>T	c.(4972-4974)tCa>tTa	p.S1658L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1658	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)	p.S1658L(1)|p.S1155L(1)		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)		CTCTGAGCCTGAAGGAACCAG	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2				Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4972-4974)TCA>TTA		SET domain containing 2							165.0	167.0	166.0					3																	47142990		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.chr3:47142990G>A	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.4973C>T	3.37:g.47142990G>A	ENSP00000386759:p.Ser1658Leu					SETD2_uc003cqv.2_Missense_Mutation_p.S1725L	p.S1658L	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)	8	5026	-		Acute lymphoblastic leukemia(5;0.0169)	1658			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4973C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	36	5.829079	0.96996	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	T	0.81330	-1.48	5.94	5.94	0.96194	SET domain (3);	0.000000	0.44688	D	0.000434	D	0.82788	0.5113	N	0.17764	0.52	0.80722	D	1	D;D	0.57571	0.957;0.98	P;P	0.61477	0.668;0.889	D	0.83931	0.0306	10	0.56958	D	0.05	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	1658;1658	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1658	ENSP00000386759:S1658L	ENSP00000386759:S1658L	S	-	2	0	SETD2	47117994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.761000	0.98940	2.820000	0.97059	0.650000	0.86243	TCA		PASS	0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		90	71	90	71	---	---	---	---
SLC25A20	788	broad.mit.edu	37	3	48895967	48895967	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:48895967C>T	ENST00000319017.4	-	8	1014	c.816G>A	c.(814-816)gtG>gtA	p.V272V	SLC25A20_ENST00000430379.1_Silent_p.V199V|SLC25A20_ENST00000544097.1_Silent_p.V222V	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	272					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)		p.V272V(1)		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)	CTCGGATCATCACTGCATTGA	0.537																																						uc003cva.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)GTG>GTA		carnitine/acylcarnitine translocase	L-Carnitine(DB00583)						129.0	109.0	116.0					3																	48895967		2203	4300	6503	SO:0001819	synonymous_variant	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48895967C>T	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.816G>A	3.37:g.48895967C>T						SLC25A20_uc011bbw.1_Silent_p.V222V|SLC25A20_uc010hkj.2_Silent_p.V199V	p.V272V	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	991	-			272			Solcar 3.|Helical; Name=6; (Potential).		B2R7F4|Q9UIQ2	Silent	SNP	ENST00000319017.4	37	c.816G>A	CCDS2779.1																																																																																				PASS	0.537	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		50	32	50	32	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65365050	65365050	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:65365050C>T	ENST00000497477.2	-	17	2880	c.2881G>A	c.(2881-2883)Gtg>Atg	p.V961M	MAGI1_ENST00000330909.8_Missense_Mutation_p.V989M|MAGI1_ENST00000483466.1_Missense_Mutation_p.V989M|MAGI1_ENST00000402939.2_Missense_Mutation_p.V961M			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	989					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.V961M(1)|p.V989M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGCTGACCAcgccgctgccc	0.706																																						uc003dmn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2881-2883)GTG>ATG		membrane associated guanylate kinase, WW and PDZ							30.0	26.0	28.0					3																	65365050		2202	4297	6499	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65365050C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2881G>A	3.37:g.65365050C>T	ENSP00000424369:p.Val961Met					MAGI1_uc003dmm.2_Missense_Mutation_p.V989M|MAGI1_uc003dmo.2_Missense_Mutation_p.V989M|MAGI1_uc003dmp.2_Missense_Mutation_p.V961M|MAGI1_uc003dmq.1_RNA|MAGI1_uc010hnx.1_Missense_Mutation_p.V272M	p.V961M	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	17	3407	-		Lung NSC(201;0.0016)	989			PDZ 5.|Interaction with FCHSD2.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2881G>A		.	.	.	.	.	.	.	.	.	.	C	12.42	1.933230	0.34096	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.20463	2.58;2.21;2.2;2.2;2.07;2.21	5.33	4.44	0.53790	.	0.543314	0.18441	N	0.141132	T	0.25791	0.0628	L	0.34521	1.04	0.34889	D	0.745381	B;P;D;D;P	0.61080	0.189;0.933;0.96;0.989;0.933	B;B;B;P;B	0.55667	0.03;0.235;0.316;0.781;0.379	T	0.25467	-1.0131	10	0.34782	T	0.22	-5.6611	9.6892	0.40118	0.0:0.7705:0.1539:0.0757	.	989;961;989;961;989	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	M	961;989;885;864;989;961;747	ENSP00000385450:V961M;ENSP00000331157:V989M;ENSP00000418177:V864M;ENSP00000420323:V989M;ENSP00000424369:V961M;ENSP00000420796:V747M	ENSP00000331157:V989M	V	-	1	0	MAGI1	65340090	0.994000	0.37717	0.981000	0.43875	0.293000	0.27360	3.201000	0.51059	1.187000	0.43000	0.460000	0.39030	GTG		PASS	0.706	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		13	6	13	6	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97611834	97611834	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:97611834G>A	ENST00000182096.4	+	8	1791	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2524							carbohydrate binding (GO:0030246)	p.G576E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCATTGGTGGAGTGTGAGTA	0.318																																						uc003drx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1726-1728)GGA>GAA		beta-gamma crystallin domain containing 3							104.0	98.0	100.0					3																	97611834		1823	4078	5901	SO:0001583	missense	131544							g.chr3:97611834G>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1727G>A	3.37:g.97611834G>A	ENSP00000182096:p.Gly576Glu						p.G576E	NM_153605	NP_705833					8	1791	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.1727G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267664	0.80469	.	.	ENSG00000080200	ENST00000182096	D	0.92699	-3.09	5.76	5.76	0.90799	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	D	0.000001	D	0.96904	0.8989	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97303	0.9932	10	0.87932	D	0	.	18.7372	0.91759	0.0:0.0:1.0:0.0	.	576	Q68DQ2	CRBG3_HUMAN	E	576	ENSP00000182096:G576E	ENSP00000182096:G576E	G	+	2	0	CRYBG3	99094524	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.768000	0.74980	2.721000	0.93114	0.591000	0.81541	GGA		PASS	0.318	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		41	103	41	103	---	---	---	---
OR5H2	79310	broad.mit.edu	37	3	98002463	98002463	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:98002463C>A	ENST00000355273.2	+	1	732	c.732C>A	c.(730-732)tcC>tcA	p.S244S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S244S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGCCTTTTCCACCTGTGGAG	0.403																																						uc003dsj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(730-732)TCC>TCA		olfactory receptor, family 5, subfamily H,							103.0	102.0	102.0					3																	98002463		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002463C>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.732C>A	3.37:g.98002463C>A							p.S244S	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			1	732	+			244			Cytoplasmic (Potential).		Q6IF87	Silent	SNP	ENST00000355273.2	37	c.732C>A	CCDS33801.1																																																																																				PASS	0.403	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			28	87	28	87	---	---	---	---
CLDND1	56650	broad.mit.edu	37	3	98240031	98240031	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:98240031G>A	ENST00000503004.1	-	2	1117	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	CLDND1_ENST00000437922.1_Missense_Mutation_p.R103W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R80W|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.R80W|CLDND1_ENST00000507874.1_Missense_Mutation_p.R80W|CLDND1_ENST00000394181.2_Missense_Mutation_p.R80W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R80W|CLDND1_ENST00000513287.1_Missense_Mutation_p.R80W|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000341181.6_Missense_Mutation_p.R80W|CLDND1_ENST00000502288.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	80						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.R80W(1)|p.R103W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GTGATACACCGTCTCCACAAT	0.383																																						uc003dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(238-240)CGG>TGG		claudin domain containing 1 protein isoform a							184.0	166.0	172.0					3																	98240031		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240031G>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.238C>T	3.37:g.98240031G>A	ENSP00000421226:p.Arg80Trp					CLDND1_uc003dso.2_Missense_Mutation_p.R80W|CLDND1_uc003dsq.2_Missense_Mutation_p.R80W|CLDND1_uc003dss.2_Missense_Mutation_p.R80W|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.R103W|CLDND1_uc003dsu.2_Missense_Mutation_p.R80W|CLDND1_uc003dsv.2_Missense_Mutation_p.R80W	p.R80W	NM_019895	NP_063948	Q9NY35	CLDN1_HUMAN			2	1118	-			80					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.238C>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323518	0.41096	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.88	2.88	0.33553	.	0.052213	0.64402	D	0.000001	T	0.56411	0.1983	L	0.41961	1.31	0.80722	D	1	B;B;B	0.21452	0.056;0.031;0.045	B;B;B	0.14578	0.011;0.011;0.009	T	0.59873	-0.7372	10	0.59425	D	0.04	-11.4697	4.9003	0.13771	0.1081:0.0:0.567:0.3248	.	80;80;80	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	W	80;80;103;80;33;80;80;80;80;80;58;80;80;80;80;80;80;80;58;80;80;80	ENSP00000422428:R80W;ENSP00000340247:R80W;ENSP00000388457:R103W;ENSP00000377734:R80W;ENSP00000422116:R33W;ENSP00000421226:R80W;ENSP00000377739:R80W;ENSP00000377735:R80W;ENSP00000423590:R80W;ENSP00000426869:R80W;ENSP00000423732:R58W;ENSP00000425539:R80W;ENSP00000420913:R80W;ENSP00000421413:R80W;ENSP00000423151:R80W;ENSP00000423093:R80W;ENSP00000425204:R80W;ENSP00000427658:R80W	ENSP00000340247:R80W	R	-	1	2	CLDND1	99722721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.378000	0.34328	2.255000	0.74692	0.655000	0.94253	CGG		PASS	0.383	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		53	131	53	131	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114070355	114070355	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:114070355C>T	ENST00000474710.1	-	4	748	c.570G>A	c.(568-570)acG>acA	p.T190T	ZBTB20_ENST00000481632.1_Silent_p.T117T|ZBTB20_ENST00000357258.3_Silent_p.T117T|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000393785.2_Silent_p.T117T|ZBTB20_ENST00000464560.1_Silent_p.T117T|ZBTB20_ENST00000462705.1_Silent_p.T117T|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.T117T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	190						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)	p.T117T(1)		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)		ACACGATGCGCGTGCACTCGT	0.637																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(568-570)ACG>ACA		zinc finger and BTB domain containing 20 isoform							74.0	60.0	65.0					3																	114070355		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070355C>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.570G>A	3.37:g.114070355C>T						ZBTB20_uc003ebj.2_Silent_p.T117T|ZBTB20_uc010hqp.2_Silent_p.T117T|ZBTB20_uc003ebk.2_Silent_p.T117T|ZBTB20_uc003ebl.2_Silent_p.T117T|ZBTB20_uc003ebm.2_Silent_p.T117T|ZBTB20_uc003ebn.2_Silent_p.T117T|uc003ebo.1_5'Flank	p.T190T	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	750	-			190					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.570G>A	CCDS54626.1																																																																																				PASS	0.637	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		22	65	22	65	---	---	---	---
EFCAB12	90288	broad.mit.edu	37	3	129137108	129137108	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:129137108C>T	ENST00000505956.1	-	3	832	c.670G>A	c.(670-672)Gct>Act	p.A224T	EFCAB12_ENST00000326085.3_Missense_Mutation_p.A224T	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	224	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.A224T(1)									GCCTTTACAGCCGCGATGAAC	0.562																																						uc003emg.2																			1	Substitution - Missense(1)		lung(1)								c.(670-672)GCT>ACT		hypothetical protein LOC90288							47.0	45.0	46.0					3																	129137108		2009	4161	6170	SO:0001583	missense	0							g.chr3:129137108C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.670G>A	3.37:g.129137108C>T	ENSP00000420854:p.Ala224Thr						p.A224T	NM_207307	NP_997190					3	833	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.670G>A	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500063	0.44455	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	T;T;T	0.48201	0.82;0.82;0.82	4.73	1.96	0.26148	EF-hand-like domain (1);	0.581525	0.16463	N	0.213303	T	0.38188	0.1031	L	0.32530	0.975	0.09310	N	1	P	0.46142	0.873	P	0.45681	0.49	T	0.16129	-1.0413	10	0.54805	T	0.06	-8.9398	6.8864	0.24202	0.0:0.7153:0.0:0.2847	.	224	Q6NXP0	CC025_HUMAN	T	224;224;74	ENSP00000420854:A224T;ENSP00000324241:A224T;ENSP00000421462:A74T	ENSP00000324241:A224T	A	-	1	0	C3orf25	130619798	0.002000	0.14202	0.009000	0.14445	0.015000	0.08874	0.334000	0.19787	0.312000	0.23038	-0.258000	0.10820	GCT		PASS	0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		33	24	33	24	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851892	134851892	+	Splice_Site	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:134851892G>C	ENST00000398015.3	+	5	1667		c.e5+1		EPHB1_ENST00000493838.1_Splice_Site	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.?(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACCAAGCCGGTAAGTCTGGA	0.567																																						uc003eqt.2																			2	Unknown(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.e5+1		ephrin receptor EphB1 precursor							33.0	34.0	34.0					3																	134851892		2097	4221	6318	SO:0001630	splice_region_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851892G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1297+1G>C	3.37:g.134851892G>C						EPHB1_uc003equ.2_Splice_Site	p.A433_splice	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1517	+								A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Splice_Site	SNP	ENST00000398015.3	37	c.1297_splice	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130022	0.77549	.	.	ENSG00000154928	ENST00000398015	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9188	0.92516	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB1	136334582	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.464000	0.83262	0.563000	0.77884	.		PASS	0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	Intron	13	43	13	43	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134881015	134881015	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:134881015G>T	ENST00000398015.3	+	7	1948	c.1578G>T	c.(1576-1578)ctG>ctT	p.L526L	EPHB1_ENST00000493838.1_Silent_p.L87L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	526	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.L526L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCAGACTCTGACTGACGGTA	0.557																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1576-1578)CTG>CTT		ephrin receptor EphB1 precursor							81.0	86.0	84.0					3																	134881015		2156	4271	6427	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134881015G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1578G>T	3.37:g.134881015G>T						EPHB1_uc003equ.2_Silent_p.L87L	p.L526L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			7	1798	+			526			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1578G>T	CCDS46921.1																																																																																				PASS	0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		25	69	25	69	---	---	---	---
ATR	545	broad.mit.edu	37	3	142241604	142241604	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:142241604C>A	ENST00000350721.4	-	23	4353	c.4232G>T	c.(4231-4233)aGc>aTc	p.S1411I	ATR_ENST00000383101.3_Missense_Mutation_p.S1347I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1411					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1411I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTGAGCTCGGCTATTATCAGC	0.358								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(4231-4233)AGC>ATC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							126.0	129.0	128.0					3																	142241604		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142241604C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4232G>T	3.37:g.142241604C>A	ENSP00000343741:p.Ser1411Ile						p.S1411I	NM_001184	NP_001175	Q13535	ATR_HUMAN			23	4354	-			1411					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4232G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061496	0.55432	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04654	3.58;3.91	5.26	4.3	0.51218	Armadillo-like helical (1);	0.123465	0.53938	D	0.000054	T	0.06371	0.0164	L	0.57536	1.79	0.39861	D	0.973378	B	0.19817	0.039	B	0.18871	0.023	T	0.20107	-1.0285	10	0.27082	T	0.32	-11.689	10.662	0.45708	0.4337:0.5663:0.0:0.0	.	1411	Q13535	ATR_HUMAN	I	1411;1347	ENSP00000343741:S1411I;ENSP00000372581:S1347I	ENSP00000343741:S1411I	S	-	2	0	ATR	143724294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.686000	0.68211	2.437000	0.82529	0.650000	0.86243	AGC		PASS	0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		83	233	83	233	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906519	164906519	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:164906519G>A	ENST00000475390.1	-	2	2543	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G	SLITRK3_ENST00000241274.3_Silent_p.G700G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	700					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G700G(1)		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						GCATTTGGATGCCAGTAAGGT	0.577										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2098-2100)GGC>GGT		slit and trk like 3 protein precursor							97.0	74.0	82.0					3																	164906519		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906519G>A	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.2100C>T	3.37:g.164906519G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.G700G	p.G700G	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2544	-			700			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2100C>T	CCDS3197.1																																																																																				PASS	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		33	63	33	63	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168807873	168807874	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:168807873_168807874TC>CA	ENST00000464456.1	-	13	3924_3925	c.2724_2725GA>TG	c.(2722-2727)gtGAca>gtTGca	p.T909A	MECOM_ENST00000460814.1_Missense_Mutation_p.T909A|MECOM_ENST00000468789.1_Missense_Mutation_p.T918A|MECOM_ENST00000494292.1_Missense_Mutation_p.T1097A|MECOM_ENST00000472280.1_Missense_Mutation_p.T919A|MECOM_ENST00000392736.3_Missense_Mutation_p.T918A|MECOM_ENST00000433243.2_Missense_Mutation_p.T919A|MECOM_ENST00000264674.3_Missense_Mutation_p.T983A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T918A(2)|p.V917V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAATTACTTGTCACTGGTTCCT	0.431																																						uc003ffi.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2752-2754)ACA>GCA|c.(2749-2751)GTG>GTT		MDS1 and EVI1 complex locus isoform b																																				SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168807873T>C|g.chr3:168807874C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2724_2725delinsCA	3.37:g.168807873_168807874delinsCA	ENSP00000419770:p.Thr909Ala					MECOM_uc010hwk.1_Missense_Mutation_p.T932A|MECOM_uc003ffj.3_Missense_Mutation_p.T983A|MECOM_uc011bpi.1_Missense_Mutation_p.T910A|MECOM_uc003ffn.3_Missense_Mutation_p.T918A|MECOM_uc003ffk.2_Missense_Mutation_p.T909A|MECOM_uc003ffl.2_Missense_Mutation_p.T1069A|MECOM_uc011bpj.1_Missense_Mutation_p.T1106A|MECOM_uc011bpk.1_Missense_Mutation_p.T908A|MECOM_uc010hwk.1_Silent_p.V931V|MECOM_uc003ffj.3_Silent_p.V982V|MECOM_uc011bpi.1_Silent_p.V909V|MECOM_uc003ffn.3_Silent_p.V917V|MECOM_uc003ffk.2_Silent_p.V908V|MECOM_uc003ffl.2_Silent_p.V1068V|MECOM_uc011bpj.1_Silent_p.V1105V|MECOM_uc011bpk.1_Silent_p.V907V	p.T918A|p.V917V	NM_005241	NP_005232	Q03112	EVI1_HUMAN			14	3021|3020	-			918|917			Asp/Glu-rich (acidic).		Q13466|Q6FH90	Missense_Mutation|Silent	SNP	ENST00000464456.1	37	c.2752A>G|c.2751G>T	CCDS54669.1																																																																																				PASS	0.431	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		58|59	207	58	207	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184100484	184100484	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:184100484C>A	ENST00000204604.1	+	8	1150	c.904C>A	c.(904-906)Ctg>Atg	p.L302M	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.L302M|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.L302M	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	302	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.L302M(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCATCACCCTGCTCACTCT	0.592																																						uc003fov.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(904-906)CTG>ATG		chordin precursor							70.0	76.0	74.0					3																	184100484		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100484C>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.904C>A	3.37:g.184100484C>A	ENSP00000204604:p.Leu302Met					CHRD_uc003fow.2_Translation_Start_Site|CHRD_uc003fox.2_Missense_Mutation_p.L302M|CHRD_uc003foy.2_Translation_Start_Site|CHRD_uc010hyc.2_Translation_Start_Site|CHRD_uc011brr.1_Translation_Start_Site	p.L302M	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1150	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		302			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.904C>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	0.528	-0.859087	0.02610	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.41758	0.99;0.99;0.99	5.01	2.17	0.27698	CHRD (3);	0.113998	0.56097	D	0.000040	T	0.15912	0.0383	N	0.04959	-0.14	0.80722	D	1	B;B	0.23735	0.004;0.09	B;B	0.32724	0.032;0.151	T	0.21999	-1.0229	10	0.02654	T	1	-5.7784	1.8009	0.03071	0.2508:0.4514:0.1333:0.1645	.	302;302	E7ESX1;Q9H2X0	.;CHRD_HUMAN	M	302	ENSP00000204604:L302M;ENSP00000408972:L302M;ENSP00000334036:L302M	ENSP00000204604:L302M	L	+	1	2	CHRD	185583178	1.000000	0.71417	0.808000	0.32385	0.856000	0.48823	3.107000	0.50329	0.223000	0.20920	0.563000	0.77884	CTG		PASS	0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		89	67	89	67	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197431510	197431510	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr3:197431510G>T	ENST00000296343.5	-	4	365	c.366C>A	c.(364-366)gcC>gcA	p.A122A	KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.A122A|KIAA0226_ENST00000273582.5_Silent_p.A62A|KIAA0226_ENST00000389665.5_Silent_p.A122A	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	122	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.A122A(1)|p.A62A(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCCACAGCTCGGCAACAGCAC	0.557																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(364-366)GCC>GCA		hypothetical protein LOC9711 isoform 2.							58.0	62.0	61.0					3																	197431510		2109	4232	6341	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197431510G>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.366C>A	3.37:g.197431510G>T						KIAA0226_uc003fyd.3_Silent_p.A62A|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.2_5'UTR|KIAA0226_uc003fyg.2_Silent_p.A115A	p.A122A	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	4	549	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		122			RUN.		Q96CK5	Silent	SNP	ENST00000296343.5	37	c.366C>A	CCDS43195.1																																																																																				PASS	0.557	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		4	91	4	91	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36135012	36135012	+	Splice_Site	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:36135012C>T	ENST00000303965.4	-	20	3753		c.e20-1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTATAATGTTCTGTAAAGTTT	0.338																																						uc003gsq.1																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e20-1		ArfGAP with RhoGAP domain, ankyrin repeat and PH							71.0	66.0	68.0					4																	36135012		2201	4299	6500	SO:0001630	splice_region_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36135012C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3264-1G>A	4.37:g.36135012C>T							p.R1088_splice	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			20	3602	-								Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	ENST00000303965.4	37	c.3264_splice	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950733	0.73787	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.81	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4384	0.83889	0.1323:0.8677:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP2	35811407	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	7.256000	0.78350	1.447000	0.47661	0.655000	0.94253	.		PASS	0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	Intron	21	9	21	9	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55958788	55958788	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:55958788C>G	ENST00000263923.4	-	22	3360	c.3065G>C	c.(3064-3066)cGa>cCa	p.R1022P	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1022	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R1022P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTACCTTTCGCGATGCCAA	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3064-3066)CGA>CCA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						107.0	98.0	101.0					4																	55958788		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55958788C>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3065G>C	4.37:g.55958788C>G	ENSP00000263923:p.Arg1022Pro	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.R1022P	p.R1022P	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3367	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1022			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3065G>C	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104483	0.77096	.	.	ENSG00000128052	ENST00000263923	D	0.83506	-1.73	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	N	0.25332	0.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88148	0.2849	10	0.87932	D	0	.	20.3802	0.98930	0.0:1.0:0.0:0.0	.	1022	P35968	VGFR2_HUMAN	P	1022	ENSP00000263923:R1022P	ENSP00000263923:R1022P	R	-	2	0	KDR	55653545	1.000000	0.71417	0.957000	0.39632	0.183000	0.23260	7.729000	0.84864	2.822000	0.97130	0.563000	0.77884	CGA		PASS	0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			17	19	17	19	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85530642	85530642	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:85530642G>A	ENST00000295887.5	+	3	729	c.306G>A	c.(304-306)ctG>ctA	p.L102L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.L102L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TGTTTTTCCTGATCATCTATA	0.343																																						uc011ccv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|breast(1)	4						c.(304-306)CTG>CTA		CDP-diacylglycerol synthase 1							284.0	264.0	271.0					4																	85530642		2203	4300	6503	SO:0001819	synonymous_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85530642G>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.306G>A	4.37:g.85530642G>A							p.L102L	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	3	804	+		Hepatocellular(203;0.114)	102			Helical; (Potential).		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	c.306G>A	CCDS3608.1																																																																																				PASS	0.343	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			50	29	50	29	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	109002749	109002749	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:109002749T>C	ENST00000265165.1	-	6	1369	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	LEF1_ENST00000379951.2_Intron|LEF1_ENST00000510624.1_Intron|LEF1_ENST00000438313.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	239	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|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 proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M239V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TACCTGGACATGGAAGTGTCG	0.557																																						uc003hyt.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(715-717)ATG>GTG		lymphoid enhancer-binding factor 1 isoform 1							125.0	100.0	108.0					4																	109002749		2203	4300	6503	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109002749T>C		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.715A>G	4.37:g.109002749T>C	ENSP00000265165:p.Met239Val					LEF1_uc011cfj.1_Intron|LEF1_uc011cfk.1_Intron|LEF1_uc003hyu.1_Intron|LEF1_uc003hyv.1_Intron|LEF1_uc010imb.1_RNA|LEF1_uc003hyw.1_5'Flank	p.M239V	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	6	1370	-			239			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.715A>G	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.658186	0.47467	.	.	ENSG00000138795	ENST00000265165;ENST00000515500	D	0.99143	-5.48	5.7	3.26	0.37387	.	0.372558	0.31612	N	0.007343	D	0.97318	0.9123	M	0.64170	1.965	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.94309	0.7544	10	0.72032	D	0.01	-4.9579	7.7064	0.28653	0.1251:0.0674:0.0:0.8076	.	239	Q9UJU2	LEF1_HUMAN	V	239;171	ENSP00000265165:M239V	ENSP00000265165:M239V	M	-	1	0	LEF1	109222198	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.942000	0.70203	0.440000	0.26502	-0.336000	0.08194	ATG		PASS	0.557	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			17	6	17	6	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113351678	113351678	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:113351678G>A	ENST00000458497.1	+	11	1254	c.975G>A	c.(973-975)ctG>ctA	p.L325L	ALPK1_ENST00000504176.2_Silent_p.L247L|ALPK1_ENST00000177648.9_Silent_p.L325L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	325							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L325L(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACTTACATCTGTGTGAAGCCA	0.428																																						uc003iap.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(973-975)CTG>CTA		alpha-kinase 1							66.0	67.0	66.0					4																	113351678		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113351678G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.975G>A	4.37:g.113351678G>A						ALPK1_uc003ian.3_Silent_p.L325L|ALPK1_uc011cfx.1_Silent_p.L247L|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.L153L	p.L325L	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1254	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	325					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.975G>A	CCDS3697.1																																																																																				PASS	0.428	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		30	17	30	17	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113565913	113565913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:113565913C>T	ENST00000344442.5	+	2	366	c.88C>T	c.(88-90)Cga>Tga	p.R30*	LARP7_ENST00000509061.1_Nonsense_Mutation_p.R37*|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Nonsense_Mutation_p.R30*|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	30	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R30*(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAAACGGTCACGAGTTAAACA	0.373																																						uc003iay.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(88-90)CGA>TGA		La ribonucleoprotein domain family, member 7							90.0	86.0	87.0					4																	113565913		1827	4076	5903	SO:0001587	stop_gained	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113565913C>T	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.88C>T	4.37:g.113565913C>T	ENSP00000344950:p.Arg30*					LARP7_uc003iaz.2_Nonsense_Mutation_p.R37*|LARP7_uc003iba.2_Translation_Start_Site|LARP7_uc003ibb.2_Nonsense_Mutation_p.R30*	p.R30*	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	2	366	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	30			HTH La-type RNA-binding.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Nonsense_Mutation	SNP	ENST00000344442.5	37	c.88C>T	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	C	32	5.174093	0.94807	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	.	.	.	4.87	-2.24	0.06909	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4504	15.8104	0.78557	0.7035:0.2965:0.0:0.0	.	.	.	.	X	30;37;30;30;30;30	.	ENSP00000314311:R30X	R	+	1	2	LARP7	113785362	0.177000	0.23109	0.633000	0.29310	0.995000	0.86356	0.768000	0.26590	-0.147000	0.11254	0.644000	0.83932	CGA		PASS	0.373	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		4	69	4	69	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114028028	114028028	+	Intron	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:114028028G>T	ENST00000357077.4	+	1	137				ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTAAAACTGGATCAATTATA	0.348																																						hsa-mir-1243|MI0006373																			0					0															79.0	79.0	79.0					4																	114028028		1568	3581	5149	SO:0001627	intron_variant	100302188							g.chr4:114028028G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.84+57060G>T	4.37:g.114028028G>T						ANK2_uc003ibd.3_Intron|ANK2_uc003ibe.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Intron										+								Q01485|Q08AC7|Q08AC8|Q7Z3L5	RNA	SNP	ENST00000357077.4	37	c.10G>T	CCDS3702.1																																																																																				PASS	0.348	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		18	14	18	14	---	---	---	---
SYNPO2	171024	broad.mit.edu	37	4	119979008	119979008	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:119979008G>T	ENST00000307142.4	+	5	3901	c.3705G>T	c.(3703-3705)atG>atT	p.M1235I	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.M1235I(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCATGTCCATGGAAACCAGGT	0.433																																						uc010inb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3703-3705)ATG>ATT		synaptopodin 2 isoform a							80.0	75.0	77.0					4																	119979008		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119979008G>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3705G>T	4.37:g.119979008G>T	ENSP00000306015:p.Met1235Ile					SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Missense_Mutation_p.M1105I	p.M1235I	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN			5	3901	+			Error:Variant_position_missing_in_Q9UMS6_after_alignment					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3705G>T	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.09|12.09	1.833981|1.833981	0.32421|0.32421	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142	.|T	.|0.08458	.|3.09	5.76|5.76	3.06|3.06	0.35304|0.35304	.|.	.|0.895755	.|0.09387	.|N	.|0.809087	.|T	.|0.06872	.|0.0175	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27068	.|0.104;0.167	.|B;B	.|0.24269	.|0.023;0.052	.|T	.|0.27297	.|-1.0078	.|9	.|.	.|.	.|.	-2.2368|-2.2368	8.4051|8.4051	0.32610|0.32610	0.1329:0.0:0.7403:0.1268|0.1329:0.0:0.7403:0.1268	.|.	.|1235;1235	.|B9EG60;Q9UMS6-2	.|.;.	X|I	1129|1235	.|ENSP00000306015:M1235I	.|.	G|M	+|+	1|3	0|0	SYNPO2|SYNPO2	120198456|120198456	1.000000|1.000000	0.71417|0.71417	0.810000|0.810000	0.32431|0.32431	0.457000|0.457000	0.32468|0.32468	3.468000|3.468000	0.53086|0.53086	0.343000|0.343000	0.23821|0.23821	-0.137000|-0.137000	0.14449|0.14449	GGA|ATG		PASS	0.433	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			35	30	35	30	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121616416	121616416	+	Silent	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:121616416A>T	ENST00000264808.3	-	16	1983	c.1743T>A	c.(1741-1743)gcT>gcA	p.A581A	PRDM5_ENST00000428209.2_Silent_p.A550A|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	581					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A581A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCAGGCTAAAAGCCAAATCAC	0.358																																						uc003idn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1741-1743)GCT>GCA		PR domain containing 5							88.0	86.0	86.0					4																	121616416		2203	4300	6503	SO:0001819	synonymous_variant	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121616416A>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1743T>A	4.37:g.121616416A>T						PRDM5_uc003ido.2_Silent_p.A550A|PRDM5_uc010ine.2_3'UTR	p.A581A	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			16	1993	-			581			C2H2-type 15.		Q0VAI9|Q0VAJ0|Q6NXQ7	Silent	SNP	ENST00000264808.3	37	c.1743T>A	CCDS3716.1																																																																																				PASS	0.358	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			25	14	25	14	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151773702	151773702	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:151773702T>C	ENST00000357115.3	-	23	3403	c.3160A>G	c.(3160-3162)Ata>Gta	p.I1054V	LRBA_ENST00000535741.1_Missense_Mutation_p.I1054V|LRBA_ENST00000510413.1_Missense_Mutation_p.I1054V|LRBA_ENST00000507224.1_Missense_Mutation_p.I1054V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1054						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.I1054V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCTTCTATTATGTCAGAAGAT	0.373																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(3160-3162)ATA>GTA		LPS-responsive vesicle trafficking, beach and							99.0	95.0	96.0					4																	151773702		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773702T>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3160A>G	4.37:g.151773702T>C	ENSP00000349629:p.Ile1054Val					LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Missense_Mutation_p.I1054V	p.I1054V	NM_006726	NP_006717	P50851	LRBA_HUMAN			23	3634	-	all_hematologic(180;0.151)		1054					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3160A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	0.145	-1.097416	0.01843	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.53423	1.04;1.19;1.04;0.62	5.03	-6.85	0.01681	.	2.583920	0.01385	N	0.013043	T	0.25269	0.0614	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.002;0.006	T	0.06607	-1.0817	10	0.27082	T	0.32	.	0.7435	0.00978	0.2051:0.2316:0.2979:0.2655	.	1054;1054	P50851;P50851-2	LRBA_HUMAN;.	V	1054	ENSP00000446299:I1054V;ENSP00000421552:I1054V;ENSP00000349629:I1054V;ENSP00000422180:I1054V	ENSP00000349629:I1054V	I	-	1	0	LRBA	151993152	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.335000	0.02662	-1.161000	0.02800	-2.426000	0.00216	ATA		PASS	0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			37	23	37	23	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183713537	183713537	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:183713537C>A	ENST00000511685.1	+	26	5835	c.5712C>A	c.(5710-5712)acC>acA	p.T1904T	TENM3_ENST00000406950.2_Silent_p.T1904T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1904					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T1904T(1)									CCATGCAGACCATCCGATCCA	0.542																																						uc003ivd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(5710-5712)ACC>ACA		odz, odd Oz/ten-m homolog 3							66.0	70.0	69.0					4																	183713537		2024	4193	6217	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183713537C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5712C>A	4.37:g.183713537C>A							p.T1904T	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	25	5749	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1904			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5712C>A	CCDS47165.1																																																																																				PASS	0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			36	16	36	16	---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	447756	447756	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:447756G>T	ENST00000512944.1	+	3	442	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	EXOC3_ENST00000315013.5_Missense_Mutation_p.D85Y	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	96					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.D85Y(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGTCAGCAAGGACTGGAGGCA	0.602																																						uc003jba.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GAC>TAC		Sec6 protein							33.0	40.0	38.0					5																	447756		2179	4280	6459	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:447756G>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.253G>T	5.37:g.447756G>T	ENSP00000425587:p.Asp85Tyr						p.D85Y	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		3	381	+		Ovarian(839;0.0563)	96					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.253G>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924136	0.92319	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.08634	3.07;3.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.29908	0.895	0.80722	D	1	P	0.47350	0.894	P	0.46917	0.531	T	0.02275	-1.1184	10	0.51188	T	0.08	-39.5637	16.9484	0.86236	0.0:0.0:1.0:0.0	.	96	O60645	EXOC3_HUMAN	Y	85;85;95	ENSP00000425587:D85Y;ENSP00000323377:D85Y	ENSP00000323377:D85Y	D	+	1	0	EXOC3	500756	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.408000	0.73285	2.665000	0.90641	0.655000	0.94253	GAC		PASS	0.602	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		5	8	5	8	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182847	140182847	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:140182847C>A	ENST00000522353.2	+	1	2065	c.2065C>A	c.(2065-2067)Ccg>Acg	p.P689T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P689T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	689					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P689T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCACGGGCCCGGAAGCTGC	0.632																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(2065-2067)CCG>ACG		protocadherin alpha 3 isoform 1 precursor							55.0	56.0	56.0					5																	140182847		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182847C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2065C>A	5.37:g.140182847C>A	ENSP00000429808:p.Pro689Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.P689T	p.P689T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2065	+			689			Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2065C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	11.44	1.638292	0.29157	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.54071	0.65;0.59	4.62	-5.15	0.02866	.	1.169440	0.07080	U	0.836917	T	0.50411	0.1614	M	0.77820	2.39	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.12837	0.008;0.006	T	0.56238	-0.8012	10	0.66056	D	0.02	.	9.5944	0.39565	0.287:0.4977:0.2153:0.0	.	689;689	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	689	ENSP00000429808:P689T;ENSP00000434086:P689T	ENSP00000429808:P689T	P	+	1	0	PCDHA3	140163031	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.274000	0.08537	-0.608000	0.05731	0.467000	0.42956	CCG		PASS	0.632	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		47	17	47	17	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208462	140208462	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:140208462C>T	ENST00000529310.1	+	1	900	c.786C>T	c.(784-786)atC>atT	p.I262I	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.I262I|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	262	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I262I(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAGTTATCAGACTGAATG	0.413																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(784-786)ATC>ATT		protocadherin alpha 6 isoform 1 precursor							99.0	94.0	96.0					5																	140208462		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208462C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.786C>T	5.37:g.140208462C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.I262I|PCDHA6_uc011dab.1_Silent_p.I262I	p.I262I	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	813	+			262			Cadherin 3.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.786C>T	CCDS47281.1																																																																																				PASS	0.413	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		10	73	10	73	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801892	140801892	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:140801892G>T	ENST00000398587.2	+	1	1131	c.1098G>T	c.(1096-1098)gtG>gtT	p.V366V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.V366V|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V366V(1)		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)			CAGGTACAGTGATTGCTCTTC	0.373																																						uc003lkq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1096-1098)GTG>GTT		protocadherin gamma subfamily A, 11 isoform 1							32.0	31.0	31.0					5																	140801892		1830	4079	5909	SO:0001819	synonymous_variant	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801892G>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.1098G>T	5.37:g.140801892G>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_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_Silent_p.V366V|PCDHGA11_uc003lkp.1_Silent_p.V366V	p.V366V	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1356	+			366			Extracellular (Potential).|Cadherin 4.		B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.1098G>T	CCDS47294.1																																																																																				PASS	0.373	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		3	31	3	31	---	---	---	---
NR3C1	2908	broad.mit.edu	37	5	142680225	142680225	+	Silent	SNP	C	C	A	rs138266608		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:142680225C>A	ENST00000343796.2	-	5	2565	c.1572G>T	c.(1570-1572)acG>acT	p.T524T	NR3C1_ENST00000394466.2_Silent_p.T525T|NR3C1_ENST00000416954.2_Silent_p.T127T|NR3C1_ENST00000231509.3_Silent_p.T525T|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000503201.1_Silent_p.T524T|NR3C1_ENST00000424646.2_Silent_p.T498T|NR3C1_ENST00000415690.2_Silent_p.T524T|NR3C1_ENST00000504572.1_Silent_p.T525T|NR3C1_ENST00000394464.2_Silent_p.T524T	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	524	Hinge.|Interaction with CLOCK.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.T525T(2)|p.T524T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GTTGTGGTAACGTTGCAGGAA	0.413																																						uc003lmz.2																			3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(2)	2						c.(1570-1572)ACG>ACT		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						210.0	191.0	197.0					5																	142680225		2203	4300	6503	SO:0001819	synonymous_variant	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142680225C>A	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1572G>T	5.37:g.142680225C>A						NR3C1_uc003lmy.2_Silent_p.T525T|NR3C1_uc003lna.2_Silent_p.T524T|NR3C1_uc003lnb.2_Silent_p.T524T|NR3C1_uc011dbk.1_Silent_p.T127T|NR3C1_uc003lnc.2_Silent_p.T524T|NR3C1_uc003lnd.2_Silent_p.T524T|NR3C1_uc003lne.2_Silent_p.T524T|NR3C1_uc003lnf.2_Silent_p.T525T	p.T524T	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		5	2064	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	524			Hinge.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	c.1572G>T	CCDS4278.1																																																																																				PASS	0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			62	50	62	50	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176696631	176696631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:176696631C>T	ENST00000439151.2	+	16	5377	c.5332C>T	c.(5332-5334)Cga>Tga	p.R1778*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1778	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)	p.R1778*(2)		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)		CTGCCATCCTCGAGCTGTTCC	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)	3	GRCh37	CM030076	NSD1	M		c.(5332-5334)CGA>TGA		nuclear receptor binding SET domain protein 1							88.0	85.0	86.0					5																	176696631		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176696631C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5332C>T	5.37:g.176696631C>T	ENSP00000395929:p.Arg1778*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R1509*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1675*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1426*	p.R1778*	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)	16	5470	+	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)	1778			PWWP 2.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5332C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	44	10.650110	0.99444	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.89	5.02	0.67125	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4373	0.32795	0.246:0.6776:0.0:0.0764	.	.	.	.	X	1509;1778;1509;1675	.	ENSP00000343209:R1509X	R	+	1	2	NSD1	176629237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.878000	0.48515	1.495000	0.48549	0.585000	0.79938	CGA		PASS	0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		45	16	45	16	---	---	---	---
TMED9	54732	broad.mit.edu	37	5	177019318	177019318	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:177019318G>A	ENST00000332598.6	+	1	160	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	35					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)	p.G35R(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGACGCGCGGAAGCGCGCT	0.657																																						uc003mhx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GGA>AGA		transmembrane emp24 protein transport domain							11.0	14.0	13.0					5																	177019318		2193	4289	6482	SO:0001583	missense	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177019318G>A	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.103G>A	5.37:g.177019318G>A	ENSP00000330945:p.Gly35Arg					TMED9_uc010jko.2_RNA	p.G35R	NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	106	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	35					Q14437|Q8WZ61	Missense_Mutation	SNP	ENST00000332598.6	37	c.103G>A	CCDS4428.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855272	0.51376	.	.	ENSG00000184840	ENST00000332598	T	0.14640	2.49	4.93	3.02	0.34903	.	0.423208	0.25138	N	0.032843	T	0.06917	0.0176	N	0.08118	0	0.35396	D	0.791143	B	0.20780	0.048	B	0.17433	0.018	T	0.12400	-1.0549	10	0.87932	D	0	-18.1394	8.1699	0.31249	0.2145:0.0:0.7855:0.0	.	35	Q9BVK6	TMED9_HUMAN	R	35	ENSP00000330945:G35R	ENSP00000330945:G35R	G	+	1	0	TMED9	176951924	0.881000	0.30235	0.983000	0.44433	0.719000	0.41307	1.632000	0.37102	1.208000	0.43306	0.462000	0.41574	GGA		PASS	0.657	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		3	2	3	2	---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180486569	180486569	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr5:180486569G>T	ENST00000327705.9	+	11	1546	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	BTNL9_ENST00000376842.3_Missense_Mutation_p.A440S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.A439S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCGCGTCGCGCTCACCCT	0.726																																						uc003mmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1315-1317)GCG>TCG		butyrophilin-like 9 precursor							24.0	25.0	25.0					5																	180486569		2199	4296	6495	SO:0001583	missense	153579					integral to membrane		g.chr5:180486569G>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1315G>T	5.37:g.180486569G>T	ENSP00000330200:p.Ala439Ser						p.A439S	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1546	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	439			Cytoplasmic (Potential).|B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.1315G>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	g	0.108	-1.142562	0.01728	.	.	ENSG00000165810	ENST00000327705;ENST00000376842	T;T	0.68331	-0.32;-0.32	4.43	0.0485	0.14285	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.27384	0.0672	N	0.01277	-0.915	0.09310	N	1	B	0.14438	0.01	B	0.24155	0.051	T	0.38023	-0.9680	9	0.02654	T	1	.	2.2651	0.04077	0.0972:0.3019:0.2922:0.3087	.	439	Q6UXG8	BTNL9_HUMAN	S	439;440	ENSP00000330200:A439S;ENSP00000366038:A440S	ENSP00000330200:A439S	A	+	1	0	BTNL9	180419175	0.000000	0.05858	0.012000	0.15200	0.003000	0.03518	-0.023000	0.12456	0.400000	0.25396	-0.535000	0.04281	GCG		PASS	0.726	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		11	14	11	14	---	---	---	---
ZSCAN9	7746	broad.mit.edu	37	6	28200375	28200375	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:28200375C>T	ENST00000252207.5	+	4	752	c.604C>T	c.(604-606)Cta>Tta	p.L202L	ZSCAN9_ENST00000531979.1_Silent_p.L202L|ZSCAN9_ENST00000425468.2_Silent_p.L253L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	202					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)	p.L202L(1)									AGAGTTGGTGCTAAGGAAAGA	0.453																																						uc003nkq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)CTA>TTA		zinc finger protein 193							75.0	69.0	71.0					6																	28200375		2203	4300	6503	SO:0001819	synonymous_variant	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28200375C>T	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.604C>T	6.37:g.28200375C>T						ZNF193_uc003nkr.1_Silent_p.L202L|ZNF193_uc010jqz.1_Silent_p.L253L	p.L202L	NM_006299	NP_006290	O15535	ZN193_HUMAN			4	719	+			202					B4E1W6|E7EVQ2|Q2TTR1	Silent	SNP	ENST00000252207.5	37	c.604C>T	CCDS4646.1																																																																																				PASS	0.453	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2	NM_006299		22	44	22	44	---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541240	31541240	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:31541240T>C	ENST00000454783.1	+	4	646	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.Y130H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	130					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.Y130H(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCCCCACTCTACCTGGCCCA	0.587																																						uc011dnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)TAC>CAC		lymphotoxin alpha precursor	Etanercept(DB00005)						179.0	160.0	166.0					6																	31541240		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541240T>C	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.388T>C	6.37:g.31541240T>C	ENSP00000403495:p.Tyr130His					LTA_uc003nue.1_Missense_Mutation_p.Y130H|LTA_uc003nuf.2_Intron|LTA_uc003nuh.2_Intron|LTA_uc003nug.2_Intron|LTA_uc010jsr.2_Intron|TNF_uc003nui.2_5'Flank	p.Y130H	NM_001159740	NP_001153212	P01374	TNFB_HUMAN			4	601	+			130					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.388T>C	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288214	0.40494	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	T;T	0.71817	-0.6;-0.6	5.16	4.0	0.46444	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.288558	0.35067	N	0.003475	T	0.57607	0.2065	N	0.20483	0.58	0.33669	D	0.610746	D	0.67145	0.996	D	0.69654	0.965	T	0.63791	-0.6557	10	0.49607	T	0.09	-12.9821	7.4326	0.27137	0.0:0.0959:0.0:0.9041	.	130	P01374	TNFB_HUMAN	H	130	ENSP00000403495:Y130H;ENSP00000413450:Y130H	ENSP00000413450:Y130H	Y	+	1	0	LTA	31649219	1.000000	0.71417	0.996000	0.52242	0.527000	0.34593	1.708000	0.37899	0.988000	0.38734	0.533000	0.62120	TAC		PASS	0.587	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			101	28	101	28	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32261554	32261554	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:32261554C>A	ENST00000447241.2	-	23	1068	c.896G>T	c.(895-897)gGa>gTa	p.G299V	C6orf10_ENST00000527965.1_Missense_Mutation_p.G283V|C6orf10_ENST00000533191.1_Missense_Mutation_p.G297V|C6orf10_ENST00000375015.4_Missense_Mutation_p.G298V|C6orf10_ENST00000442822.2_Missense_Mutation_p.G290V|C6orf10_ENST00000375007.4_Missense_Mutation_p.G297V	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	299						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G299V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTTTGGTATTCCAGCGTCACT	0.408																																						uc011dpy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(895-897)GGA>GTA		chromosome 6 open reading frame 10							258.0	278.0	271.0					6																	32261554		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32261554C>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.896G>T	6.37:g.32261554C>A	ENSP00000415517:p.Gly299Val					C6orf10_uc011dpx.1_Missense_Mutation_p.G81V	p.G299V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1069	-			299					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.896G>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951813	0.34471	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.07021	3.54;3.3;3.23;3.57;3.27;3.23	3.4	-2.94	0.05581	.	.	.	.	.	T	0.05868	0.0153	L	0.52573	1.65	0.09310	N	1	P;D	0.54397	0.739;0.966	B;P	0.58970	0.21;0.849	T	0.12268	-1.0554	9	0.48119	T	0.1	-0.0062	5.4418	0.16513	0.0:0.3628:0.1454:0.4917	.	299;290	Q5SRN2;C9J9T8	CF010_HUMAN;.	V	290;299;298;297;283;297;298;296	ENSP00000411164:G290V;ENSP00000415517:G299V;ENSP00000364155:G298V;ENSP00000431199:G297V;ENSP00000435103:G283V;ENSP00000364146:G297V	ENSP00000303292:G296V	G	-	2	0	C6orf10	32369532	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.820000	0.04457	-0.755000	0.04709	0.557000	0.71058	GGA		PASS	0.408	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		228	78	228	78	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70909315	70909315	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:70909315G>A	ENST00000322773.4	+	49	3200	c.3098G>A	c.(3097-3099)aGg>aAg	p.R1033K	COL19A1_ENST00000393344.1_Missense_Mutation_p.R655K	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1033					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.R1033K(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CATGAAGAGAGGATGGCTGTA	0.393																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3097-3099)AGG>AAG		alpha 1 type XIX collagen precursor							49.0	51.0	50.0					6																	70909315		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70909315G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3098G>A	6.37:g.70909315G>A	ENSP00000316030:p.Arg1033Lys						p.R1033K	NM_001858	NP_001849	Q14993	COJA1_HUMAN			49	3215	+			1033					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.3098G>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627817	0.66901	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.91464	-2.85;-2.76	5.91	5.05	0.67936	.	0.116260	0.56097	N	0.000033	T	0.71384	0.3333	L	0.28014	0.82	0.39053	D	0.960379	B	0.17465	0.022	B	0.14578	0.011	T	0.67181	-0.5735	10	0.05525	T	0.97	.	14.9385	0.70975	0.0682:0.0:0.9318:0.0	.	1033	Q14993	COJA1_HUMAN	K	1033;655;108	ENSP00000316030:R1033K;ENSP00000377013:R655K	ENSP00000316030:R1033K	R	+	2	0	COL19A1	70966036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.734000	0.74801	1.515000	0.48885	0.650000	0.86243	AGG		PASS	0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			50	20	50	20	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96054135	96054135	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:96054135G>C	ENST00000358812.4	+	5	1377	c.1243G>C	c.(1243-1245)Gtt>Ctt	p.V415L		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	415	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.V415L(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TGAAAAAGCTGTTCCCAAAAG	0.413																																						uc003poo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1243-1245)GTT>CTT		mannosidase, endo-alpha							63.0	61.0	62.0					6																	96054135		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054135G>C	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1243G>C	6.37:g.96054135G>C	ENSP00000351669:p.Val415Leu						p.V415L	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1383	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	415			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1243G>C	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393664	0.42410	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	0.331	0.15933	.	0.412070	0.29152	N	0.012998	T	0.39358	0.1075	M	0.65975	2.015	0.42659	D	0.993473	B	0.28783	0.222	B	0.25987	0.065	T	0.29971	-0.9994	9	0.39692	T	0.17	-7.826	10.479	0.44682	0.3808:0.0:0.6192:0.0	.	415	Q5SRI9	MANEA_HUMAN	L	415	.	ENSP00000351669:V415L	V	+	1	0	MANEA	96160856	0.002000	0.14202	0.986000	0.45419	0.996000	0.88848	-0.131000	0.10482	-0.024000	0.13941	-0.150000	0.13652	GTT		PASS	0.413	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		43	18	43	18	---	---	---	---
PEX7	5191	broad.mit.edu	37	6	137187869	137187869	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:137187869G>C	ENST00000318471.4	+	6	712	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	PEX7_ENST00000541292.1_Missense_Mutation_p.E211Q	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	211					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.E211Q(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TAAATACAATGAGGTATAGTG	0.403																																						uc003qhd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(631-633)GAG>CAG		peroxisomal biogenesis factor 7							218.0	196.0	203.0					6																	137187869		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137187869G>C	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.631G>C	6.37:g.137187869G>C	ENSP00000315680:p.Glu211Gln					PEX7_uc010kgx.2_RNA	p.E211Q	NM_000288	NP_000279	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	6	733	+	Colorectal(23;0.24)		211			WD 4.		C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.631G>C	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	9.357	1.067064	0.20067	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	D;D	0.81499	-1.5;-1.5	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049349	0.85682	D	0.000000	T	0.55955	0.1953	N	0.19112	0.55	0.41406	D	0.987702	B	0.14438	0.01	B	0.14578	0.011	T	0.53394	-0.8445	10	0.29301	T	0.29	-26.2341	13.7929	0.63152	0.0:0.2572:0.7428:0.0	.	211	O00628	PEX7_HUMAN	Q	211	ENSP00000441004:E211Q;ENSP00000315680:E211Q	ENSP00000315680:E211Q	E	+	1	0	PEX7	137229562	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.191000	0.58372	2.809000	0.96659	0.655000	0.94253	GAG		PASS	0.403	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		10	38	10	38	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165829708	165829708	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:165829708G>C	ENST00000366882.1	-	13	1184	c.1030C>G	c.(1030-1032)Cca>Gca	p.P344A	PDE10A_ENST00000539869.2_Missense_Mutation_p.P354A|PDE10A_ENST00000354448.4_Missense_Mutation_p.P344A			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	344	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.P344A(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TAGGCATCTGGAATGTTCAGG	0.413																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1030-1032)CCA>GCA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						269.0	241.0	250.0					6																	165829708		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165829708G>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1030C>G	6.37:g.165829708G>C	ENSP00000355847:p.Pro344Ala					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P274A|PDE10A_uc003quo.2_Missense_Mutation_p.P354A	p.P344A	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	13	1271	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	344			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1030C>G		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854652	0.71719	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68181	-0.31;-0.31	5.2	5.2	0.72013	GAF (2);	0.050451	0.85682	D	0.000000	T	0.54822	0.1882	L	0.35793	1.09	0.80722	D	1	P;P	0.51449	0.945;0.637	P;B	0.52672	0.706;0.374	T	0.54450	-0.8292	10	0.07990	T	0.79	.	18.7528	0.91821	0.0:0.0:1.0:0.0	.	354;344	Q9ULW9;Q9Y233	.;PDE10_HUMAN	A	344;372;354;344;343	ENSP00000355847:P344A;ENSP00000346435:P344A	ENSP00000341187:P354A	P	-	1	0	PDE10A	165749698	1.000000	0.71417	0.894000	0.35097	0.730000	0.41778	9.507000	0.97996	2.430000	0.82344	0.561000	0.74099	CCA		PASS	0.413	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			86	40	86	40	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166918039	166918040	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr6:166918039_166918040TG>AT	ENST00000265678.4	-	6	743_744	c.520_521CA>AT	c.(520-522)CAt>ATt	p.H174I	RPS6KA2_ENST00000366863.2_Missense_Mutation_p.H20I|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H85I|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.H199I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H182I|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H85I	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	174	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.H182I(1)|p.H182L(1)|p.H182N(1)|p.H174I(1)|p.H174L(1)|p.H174N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCTGTGGAGATGGTCTAAAGCC	0.446																																						uc003qvb.1																			6	Substitution - Missense(6)		lung(6)	ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(520-522)CAT>CTT|c.(520-522)CAT>AAT		ribosomal protein S6 kinase, 90kDa, polypeptide																																				SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166918039T>A|g.chr6:166918040G>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.520_521delinsAT	6.37:g.166918039_166918040delinsAT	ENSP00000265678:p.His174Ile					RPS6KA2_uc011ego.1_Missense_Mutation_p.H85L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H85L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H182L|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H199L|RPS6KA2_uc011ego.1_Missense_Mutation_p.H85N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H85N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H182N|RPS6KA2_uc003qvd.1_Missense_Mutation_p.H199N	p.H174L|p.H174N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	6	740|739	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	174			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.521A>T|c.520C>A	CCDS5294.1																																																																																				PASS	0.446	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		60	16	60	16	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6031654	6031654	+	Missense_Mutation	SNP	T	T	C	rs587782513		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:6031654T>C	ENST00000265849.7	-	9	1043	c.938A>G	c.(937-939)tAt>tGt	p.Y313C	PMS2_ENST00000441476.2_Missense_Mutation_p.Y207C|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.Y313C	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	313					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.Y313C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTGTCGATTATACATGTGGTA	0.398			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(937-939)TAT>TGT	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							111.0	91.0	98.0					7																	6031654		2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6031654T>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.938A>G	7.37:g.6031654T>C	ENSP00000265849:p.Tyr313Cys					PMS2_uc003spj.2_Missense_Mutation_p.Y207C|PMS2_uc003spk.2_Missense_Mutation_p.Y178C|PMS2_uc011jwl.1_Missense_Mutation_p.Y178C|PMS2_uc010ktg.2_Missense_Mutation_p.Y2C|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.Y313C	p.Y313C	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	9	1025	-		Ovarian(82;0.0694)	313					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.938A>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106203	0.56291	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84070	-1.8;-1.8;-1.8	5.4	5.4	0.78164	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.968;0.999;0.999	D	0.91804	0.5454	10	0.87932	D	0	-13.5448	15.4117	0.74929	0.0:0.0:0.0:1.0	.	313;313;207	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	C	313;266;207;313	ENSP00000265849:Y313C;ENSP00000392843:Y207C;ENSP00000384308:Y313C	ENSP00000265849:Y313C	Y	-	2	0	PMS2	5998180	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	5.681000	0.68175	2.045000	0.60652	0.482000	0.46254	TAT		PASS	0.398	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		12	29	12	29	---	---	---	---
RAC1	5879	broad.mit.edu	37	7	6431584	6431584	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:6431584T>G	ENST00000348035.4	+	3	350	c.137T>G	c.(136-138)gTa>gGa	p.V46G	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.V46G	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	46					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.V46G(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AATGTTATGGTAGATGGAAAA	0.433																																						uc003spx.2																			2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(136-138)GTA>GGA		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						114.0	106.0	109.0					7																	6431584		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431584T>G	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.137T>G	7.37:g.6431584T>G	ENSP00000258737:p.Val46Gly					RAC1_uc003spw.2_Missense_Mutation_p.V46G	p.V46G	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	378	+		Ovarian(82;0.0776)	46					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.137T>G	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664226	0.88251	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.72725	-0.68;-0.68	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.061016	0.64402	D	0.000005	D	0.88370	0.6418	H	0.94462	3.54	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.97110	1.0;0.999	D	0.91682	0.5359	10	0.87932	D	0	.	15.5269	0.75919	0.0:0.0:0.0:1.0	.	46;46	P63000;A4D2P0	RAC1_HUMAN;.	G	46	ENSP00000258737:V46G;ENSP00000348461:V46G	ENSP00000258737:V46G	V	+	2	0	RAC1	6398109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.993000	0.88291	2.128000	0.65567	0.528000	0.53228	GTA		PASS	0.433	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		26	68	26	68	---	---	---	---
C7orf26	79034	broad.mit.edu	37	7	6639817	6639817	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:6639817G>T	ENST00000344417.5	+	4	1205	c.938G>T	c.(937-939)cGc>cTc	p.R313L	C7orf26_ENST00000359073.5_Missense_Mutation_p.R216L|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	313								p.R313L(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTGTATGGGCGCCTGGGGCTG	0.572																																						uc003sqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(937-939)CGC>CTC		hypothetical protein LOC79034							58.0	50.0	53.0					7																	6639817		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639817G>T	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.938G>T	7.37:g.6639817G>T	ENSP00000340220:p.Arg313Leu					C7orf26_uc003sqp.1_Missense_Mutation_p.R216L|C7orf26_uc003sqq.1_Missense_Mutation_p.R114L	p.R313L	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	938	+		Ovarian(82;0.232)	313					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.938G>T	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460478	0.84317	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	T;T	0.43688	0.94;0.94	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.60455	1.87	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.61676	-0.7014	10	0.59425	D	0.04	-36.4458	17.036	0.86476	0.0:0.0:1.0:0.0	.	216;313	Q96N11-2;Q96N11	.;CG026_HUMAN	L	313;216	ENSP00000340220:R313L;ENSP00000351974:R216L	ENSP00000340220:R313L	R	+	2	0	C7orf26	6606342	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	9.062000	0.93920	2.811000	0.96726	0.555000	0.69702	CGC		PASS	0.572	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		10	31	10	31	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21939723	21939723	+	IGR	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:21939723G>A	ENST00000406877.3	-	0	3066				DNAH11_ENST00000409508.3_Missense_Mutation_p.G4430R|DNAH11_ENST00000328843.6_Missense_Mutation_p.G4437R	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G4437R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ATACCTCCACGGACTCTTCAT	0.483																																						uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13309-13311)GGA>AGA		dynein, axonemal, heavy chain 11							49.0	48.0	49.0					7																	21939723		1884	4117	6001	SO:0001628	intergenic_variant	8701	Kartagener_syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939723G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939723G>A							p.G4437R	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			82	13340	+			4437					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13309G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166271	0.78339	.	.	ENSG00000105877	ENST00000328843	T	0.51071	0.72	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72107	-0.4390	9	0.87932	D	0	.	13.1757	0.59626	0.0821:0.0:0.9179:0.0	.	4437	Q96DT5	DYH11_HUMAN	R	4437	ENSP00000330671:G4437R	ENSP00000330671:G4437R	G	+	1	0	DNAH11	21906248	1.000000	0.71417	0.978000	0.43139	0.671000	0.39405	4.828000	0.62730	2.581000	0.87130	0.655000	0.94253	GGA		PASS	0.483	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		19	40	19	40	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31009500	31009500	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:31009500G>T	ENST00000326139.2	+	4	333	c.287G>T	c.(286-288)tGt>tTt	p.C96F	GHRHR_ENST00000409904.3_Missense_Mutation_p.C32F|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	96					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.C96F(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AAACGGGATTGTACTATCACT	0.597																																						uc003tbx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(286-288)TGT>TTT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						172.0	138.0	149.0					7																	31009500		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31009500G>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.287G>T	7.37:g.31009500G>T	ENSP00000320180:p.Cys96Phe					GHRHR_uc003tbw.1_Missense_Mutation_p.C96F|GHRHR_uc003tby.2_Missense_Mutation_p.C32F|GHRHR_uc003tbz.2_5'UTR	p.C96F	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			4	335	+			96			Extracellular (Potential).		Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.287G>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423875	0.43020	.	.	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409233;ENST00000337750	D;T;D	0.98313	-4.86;0.12;-1.65	4.17	4.17	0.49024	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	D	0.99196	0.9721	H	0.96547	3.84	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98696	1.0698	9	0.87932	D	0	.	12.1775	0.54194	0.0:0.0:1.0:0.0	.	32;96;32	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	F	96;32;32;32	ENSP00000320180:C96F;ENSP00000387113:C32F;ENSP00000338184:C32F	ENSP00000320180:C96F	C	+	2	0	GHRHR	30976025	1.000000	0.71417	0.470000	0.27216	0.144000	0.21451	7.686000	0.84128	2.326000	0.78906	0.462000	0.41574	TGT		PASS	0.597	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			68	99	68	99	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73811475	73811475	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:73811475G>T	ENST00000395060.1	+	13	2792	c.2792G>T	c.(2791-2793)aGc>aTc	p.S931I	CLIP2_ENST00000223398.6_Missense_Mutation_p.S931I|CLIP2_ENST00000361545.5_Missense_Mutation_p.S896I			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	931						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.S896I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGGGACCTGAGCCGTGAGGTA	0.622																																						uc003uam.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2791-2793)AGC>ATC		CAP-GLY domain containing linker protein 2							97.0	89.0	91.0					7																	73811475		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811475G>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2792G>T	7.37:g.73811475G>T	ENSP00000378500:p.Ser931Ile					CLIP2_uc003uan.2_Missense_Mutation_p.S896I	p.S931I	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			14	3119	+			931			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2792G>T	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.92|18.92	3.726626|3.726626	0.69074|0.69074	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|T;T;T	.|0.60548	.|0.2;0.18;0.2	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	.|0.209202	.|0.48767	.|D	.|0.000172	T|T	0.54515|0.54515	0.1863|0.1863	N|N	0.14661|0.14661	0.345|0.345	0.36397|0.36397	D|D	0.862862|0.862862	.|D;D	.|0.63880	.|0.993;0.988	.|P;P	.|0.55391	.|0.775;0.601	T|T	0.66524|0.66524	-0.5902|-0.5902	5|10	.|0.51188	.|T	.|0.08	-28.5804|-28.5804	15.8489|15.8489	0.78912|0.78912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|896;931	.|Q9UDT6-2;Q9UDT6	.|.;CLIP2_HUMAN	S|I	181|931;931;896;931	.|ENSP00000223398:S931I;ENSP00000355151:S896I;ENSP00000378500:S931I	.|ENSP00000223398:S931I	A|S	+|+	1|2	0|0	CLIP2|CLIP2	73449411|73449411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.830000|4.830000	0.62745|0.62745	2.081000|2.081000	0.62600|0.62600	0.561000|0.561000	0.74099|0.74099	GCC|AGC		PASS	0.622	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		31	56	31	56	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965368	88965368	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:88965368C>G	ENST00000333190.4	+	4	3681	c.3072C>G	c.(3070-3072)aaC>aaG	p.N1024K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1024							metal ion binding (GO:0046872)	p.N1024K(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTGTGATAACCATCTTTCTA	0.333										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3070-3072)AAC>AAG		zinc finger protein 804B							65.0	65.0	65.0					7																	88965368		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965368C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3072C>G	7.37:g.88965368C>G	ENSP00000329638:p.Asn1024Lys	HNSCC(36;0.09)					p.N1024K	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3610	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1024					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3072C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317705	0.05386	.	.	ENSG00000182348	ENST00000333190	T	0.05717	3.4	5.16	-2.89	0.05665	.	0.432444	0.23883	N	0.043635	T	0.04272	0.0118	L	0.32530	0.975	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.27434	-1.0074	10	0.49607	T	0.09	-1.1353	6.4997	0.22162	0.0:0.3136:0.2858:0.4006	.	1024	A4D1E1	Z804B_HUMAN	K	1024	ENSP00000329638:N1024K	ENSP00000329638:N1024K	N	+	3	2	ZNF804B	88803304	0.003000	0.15002	0.008000	0.14137	0.074000	0.17049	-0.850000	0.04317	-0.823000	0.04301	-0.880000	0.02959	AAC		PASS	0.333	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		18	38	18	38	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A	rs527875590		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:93067382G>A	ENST00000394441.1	-	10	1235	c.920C>T	c.(919-921)gCg>gTg	p.A307V	CALCR_ENST00000359558.2_Missense_Mutation_p.A341V|CALCR_ENST00000360249.4_Missense_Mutation_p.A323V|CALCR_ENST00000421592.1_Missense_Mutation_p.A323V|CALCR_ENST00000426151.1_Missense_Mutation_p.A307V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	341					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.0		0.0	False		,,,				2504	0.001					uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1021-1023)GCG>GTG		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						73.0	69.0	70.0					7																	93067382		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93067382G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.920C>T	7.37:g.93067382G>A	ENSP00000377959:p.Ala307Val					CALCR_uc011kia.1_Missense_Mutation_p.A121V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	p.A341V	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		12	1283	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		323			Helical; Name=5; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1022C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.67	0.705	0.18127	.	.	.	.	.	T	0.31358	0.0794	L	0.53729	1.69	0.51482	D	0.999922	P;B	0.40909	0.732;0.075	B;B	0.39876	0.312;0.045	T	0.06373	-1.0830	9	0.49607	T	0.09	.	8.6301	0.33915	0.1237:0.1272:0.7491:0.0	.	341;307	F5H605;A4D1G6	.;.	V	341;323;323;307;307	ENSP00000352561:A341V;ENSP00000353385:A323V;ENSP00000399552:A323V;ENSP00000377959:A307V;ENSP00000389295:A307V	ENSP00000352561:A341V	A	-	2	0	CALCR	92905318	1.000000	0.71417	0.202000	0.23494	0.501000	0.33797	3.324000	0.52022	0.018000	0.15052	0.655000	0.94253	GCG		PASS	0.348	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		12	19	12	19	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94049586	94049586	+	Silent	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:94049586T>A	ENST00000297268.6	+	35	2592	c.2121T>A	c.(2119-2121)ccT>ccA	p.P707P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	707			Missing (in OI2). {ECO:0000269|PubMed:1339453}.|Missing (in OI2). {ECO:0000269|PubMed:18996919}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P707P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ctgctggtcctCGGGGAAGCC	0.448										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2119-2121)CCT>CCA		alpha 2 type I collagen precursor	Collagenase(DB00048)						108.0	106.0	107.0					7																	94049586		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94049586T>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2121T>A	7.37:g.94049586T>A		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.P707P	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		35	2592	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		707		Missing (in OI2A).|Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2121T>A	CCDS34682.1																																																																																				PASS	0.448	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		43	65	43	65	---	---	---	---
CYP3A4	1576	broad.mit.edu	37	7	99367429	99367429	+	Silent	SNP	C	C	T	rs575568074		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:99367429C>T	ENST00000336411.2	-	6	666	c.483G>A	c.(481-483)agG>agA	p.R161R	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	161					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.R161R(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTGCTTCCCGCCTCAGATTTC	0.507													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18850	0.0		0.0	False		,,,				2504	0.0					uc003urv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(481-483)AGG>AGA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						141.0	130.0	134.0					7																	99367429		2203	4300	6503	SO:0001819	synonymous_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99367429C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.483G>A	7.37:g.99367429C>T						CYP3A4_uc003urw.1_Silent_p.R161R|CYP3A4_uc011kiz.1_Silent_p.R120R|CYP3A4_uc011kja.1_Silent_p.R112R|CYP3A4_uc011kjb.1_Intron	p.R161R	NM_017460	NP_059488	P08684	CP3A4_HUMAN			6	587	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		161					P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	c.483G>A	CCDS5674.1																																																																																				PASS	0.507	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			60	122	60	122	---	---	---	---
DLD	1738	broad.mit.edu	37	7	107542181	107542181	+	Splice_Site	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:107542181A>G	ENST00000205402.5	+	3	399		c.e3-1		DLD_ENST00000440410.1_Splice_Site|DLD_ENST00000494441.1_Splice_Site|DLD_ENST00000537148.1_Intron|DLD_ENST00000437604.2_Splice_Site	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase						branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	CTTTTATCGTAGTTGATGCTG	0.353																																						uc003vet.2																			2	Unknown(2)		lung(2)	central_nervous_system(1)	1						c.e3-2		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						120.0	116.0	117.0					7																	107542181		2203	4300	6503	SO:0001630	splice_region_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107542181A>G	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.119-1A>G	7.37:g.107542181A>G						DLD_uc010ljm.1_Splice_Site|DLD_uc011kmg.1_Splice_Site_p.I40_splice|DLD_uc011kmh.1_Splice_Site_p.I40_splice|DLD_uc011kmi.1_Intron	p.I40_splice	NM_000108	NP_000099	P09622	DLDH_HUMAN			3	229	+								B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Splice_Site	SNP	ENST00000205402.5	37	c.119_splice	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.335515	0.60853	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000440410;ENST00000437604	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8619	0.79032	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DLD	107329417	1.000000	0.71417	0.997000	0.53966	0.565000	0.35776	8.925000	0.92832	2.160000	0.67779	0.482000	0.46254	.		PASS	0.353	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	Intron	29	64	29	64	---	---	---	---
RNF133	168433	broad.mit.edu	37	7	122338572	122338572	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:122338572C>G	ENST00000340112.2	-	1	638	c.401G>C	c.(400-402)gGt>gCt	p.G134A	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	134	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G134A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCCAGTACCTGGAACGTT	0.428																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(400-402)GGT>GCT		ring finger protein 133							118.0	111.0	114.0					7																	122338572		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338572C>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.401G>C	7.37:g.122338572C>G	ENSP00000344489:p.Gly134Ala					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.G134A	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	637	-			134			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.401G>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485567	0.63962	.	.	ENSG00000188050	ENST00000340112	T	0.06528	3.29	5.62	5.62	0.85841	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000001	T	0.14657	0.0354	L	0.60012	1.86	0.80722	D	1	P	0.45126	0.851	P	0.51945	0.685	T	0.01401	-1.1364	10	0.28530	T	0.3	.	14.1536	0.65403	0.15:0.85:0.0:0.0	.	134	Q8WVZ7	RN133_HUMAN	A	134	ENSP00000344489:G134A	ENSP00000344489:G134A	G	-	2	0	RNF133	122125808	0.957000	0.32711	0.994000	0.49952	0.991000	0.79684	2.670000	0.46833	2.644000	0.89710	0.561000	0.74099	GGT		PASS	0.428	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		51	108	51	108	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128496897	128496897	+	Missense_Mutation	SNP	C	C	A	rs374925943		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:128496897C>A	ENST00000325888.8	+	45	7744	c.7483C>A	c.(7483-7485)Cgc>Agc	p.R2495S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2462S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2495	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R2495S(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTTCAAGATCCGCGTTGGGGA	0.617																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7483-7485)CGC>AGC		gamma filamin isoform a							74.0	80.0	78.0					7																	128496897		2176	4280	6456	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496897C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7483C>A	7.37:g.128496897C>A	ENSP00000327145:p.Arg2495Ser					FLNC_uc003voa.3_Missense_Mutation_p.R2462S	p.R2495S	NM_001458	NP_001449	Q14315	FLNC_HUMAN			45	7692	+			2495			Filamin 22.|Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7483C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	c	33	5.241040	0.95272	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88124	-2.34;-2.34	5.51	5.51	0.81932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	M	0.80616	2.505	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.77004	0.989;0.777	D	0.94222	0.7468	10	0.72032	D	0.01	.	19.4409	0.94820	0.0:1.0:0.0:0.0	.	2462;2495	Q14315-2;Q14315	.;FLNC_HUMAN	S	2495;2462	ENSP00000327145:R2495S;ENSP00000344002:R2462S	ENSP00000327145:R2495S	R	+	1	0	FLNC	128284133	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.923000	0.63412	2.588000	0.87417	0.552000	0.68991	CGC		PASS	0.617	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			22	54	22	54	---	---	---	---
CEP41	95681	broad.mit.edu	37	7	130040572	130040572	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:130040572C>T	ENST00000223208.5	-	9	1003	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	CEP41_ENST00000343969.5_Missense_Mutation_p.E245K|CEP41_ENST00000541543.1_Missense_Mutation_p.E229K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	245	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.E245K(1)									AAGAGGTTTTCAAATCCACGC	0.502																																						uc003vpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GAA>AAA		testis specific, 14							70.0	57.0	62.0					7																	130040572		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130040572C>T	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.733G>A	7.37:g.130040572C>T	ENSP00000223208:p.Glu245Lys					TSGA14_uc003vpy.2_Missense_Mutation_p.E7K|TSGA14_uc010lmf.2_Missense_Mutation_p.E42K|TSGA14_uc003vqa.2_Missense_Mutation_p.E245K|TSGA14_uc011kpg.1_Missense_Mutation_p.E229K	p.E245K	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			9	780	-	Melanoma(18;0.0435)		245			Rhodanese.		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.733G>A	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667027	0.96745	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	T;T;T	0.25250	1.81;1.81;1.81	6.03	6.03	0.97812	Rhodanese-like (5);	0.100144	0.64402	D	0.000002	T	0.43942	0.1270	L	0.45137	1.4	0.80722	D	1	D;D;D	0.71674	0.998;0.966;0.973	D;P;P	0.63488	0.915;0.798;0.872	T	0.06917	-1.0800	10	0.51188	T	0.08	-27.8576	19.1304	0.93404	0.0:1.0:0.0:0.0	.	229;245;245	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	K	245;229;245	ENSP00000223208:E245K;ENSP00000445888:E229K;ENSP00000342738:E245K	ENSP00000223208:E245K	E	-	1	0	TSGA14	129827808	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.698000	0.84413	2.854000	0.98071	0.655000	0.94253	GAA		PASS	0.502	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		12	21	12	21	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131870117	131870117	+	Silent	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:131870117G>C	ENST00000359827.3	-	16	4061	c.3099C>G	c.(3097-3099)gtC>gtG	p.V1033V	PLXNA4_ENST00000321063.4_Silent_p.V1033V			Q9HCM2	PLXA4_HUMAN	plexin A4	1033	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V1033V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATACTGAAAGACCAGGTCCT	0.547																																						uc003vra.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3097-3099)GTC>GTG		plexin A4 isoform 1							124.0	129.0	128.0					7																	131870117		2066	4197	6263	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870117G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3099C>G	7.37:g.131870117G>C							p.V1033V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			16	3328	-			1033			IPT/TIG 2.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3099C>G	CCDS43646.1																																																																																				PASS	0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		45	81	45	81	---	---	---	---
AKR1D1	6718	broad.mit.edu	37	7	137773401	137773401	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:137773401C>A	ENST00000242375.3	+	2	190	c.148C>A	c.(148-150)Cga>Aga	p.R50R	RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000432161.1_Silent_p.R50R|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Silent_p.R50R	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	50					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)	p.R50R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CACAGGGTACCGACATATTGA	0.488																																						uc003vtz.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(148-150)CGA>AGA		aldo-keto reductase family 1, member D1							116.0	96.0	103.0					7																	137773401		2203	4300	6503	SO:0001819	synonymous_variant	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137773401C>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.148C>A	7.37:g.137773401C>A						AKR1D1_uc011kqb.1_Silent_p.R50R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Silent_p.R50R|AKR1D1_uc011kqf.1_Silent_p.R50R	p.R50R	NM_005989	NP_005980	P51857	AK1D1_HUMAN			2	217	+			50					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.148C>A	CCDS5846.1																																																																																				PASS	0.488	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		25	40	25	40	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069034	150069034	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:150069034C>A	ENST00000425389.2	+	1	782	c.704C>A	c.(703-705)cCc>cAc	p.P235H	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.P235H|REPIN1_ENST00000444957.1_Missense_Mutation_p.P235H|REPIN1_ENST00000540729.1_Missense_Mutation_p.P235H|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.P292H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	235					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P292H(1)|p.P235H(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTCGACCGCCCCTTCCAGTGT	0.751																																						uc010lpq.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(703-705)CCC>CAC		replication initiator 1 isoform 1							18.0	20.0	19.0					7																	150069034		1935	4076	6011	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069034C>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.704C>A	7.37:g.150069034C>A	ENSP00000388287:p.Pro235His					REPIN1_uc003whd.2_Missense_Mutation_p.P224H|REPIN1_uc010lpr.1_Missense_Mutation_p.P292H|REPIN1_uc003whc.2_Missense_Mutation_p.P235H|REPIN1_uc003whe.2_Missense_Mutation_p.P235H	p.P235H	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1193	+	Ovarian(565;0.183)|Melanoma(164;0.226)		235					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.704C>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564556	0.45694	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000475514;ENST00000488943;ENST00000425389	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.35	4.47	0.54385	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76807	0.4039	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.968	T	0.78976	-0.1991	9	0.87932	D	0	-16.1115	8.9798	0.35957	0.0:0.9017:0.0:0.0983	.	292;235	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	235;235;235;292;294;295;235	ENSP00000445016:P235H;ENSP00000380451:P235H;ENSP00000407714:P235H;ENSP00000417291:P292H;ENSP00000419789:P294H;ENSP00000419872:P295H;ENSP00000388287:P235H	ENSP00000380451:P235H	P	+	2	0	REPIN1	149699967	0.013000	0.17824	0.820000	0.32676	0.674000	0.39518	2.884000	0.48562	2.495000	0.84180	0.462000	0.41574	CCC		PASS	0.751	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		16	26	16	26	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1828220	1828220	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:1828220C>G	ENST00000398564.1	+	9	925	c.925C>G	c.(925-927)Cat>Gat	p.H309D	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H284D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H309D|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.H309D|ARHGEF10_ENST00000520359.1_Intron			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	309					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H61D(1)|p.H309D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GTAGCTTTCTCATGACCTAAC	0.458																																						uc003wpr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(850-852)CAT>GAT		Rho guanine nucleotide exchange factor 10							86.0	90.0	89.0					8																	1828220		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1828220C>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.925C>G	8.37:g.1828220C>G	ENSP00000381571:p.His309Asp					ARHGEF10_uc003wpq.1_Missense_Mutation_p.H309D|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc003wpv.2_Intron|ARHGEF10_uc010lre.2_5'Flank	p.H284D	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	9	1028	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	309			Potential.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.850C>G		.	.	.	.	.	.	.	.	.	.	C	9.873	1.199539	0.22121	.	.	ENSG00000104728	ENST00000349830;ENST00000518288;ENST00000398564;ENST00000262112	T;T;T;T	0.58358	0.35;0.35;0.35;0.34	5.45	5.45	0.79879	.	0.162016	0.41605	D	0.000844	T	0.49064	0.1535	L	0.54323	1.7	0.80722	D	1	B	0.33637	0.42	B	0.31946	0.138	T	0.44065	-0.9352	10	0.14656	T	0.56	-24.3976	19.2594	0.93961	0.0:1.0:0.0:0.0	.	284	O15013-5	.	D	284;309;309;309	ENSP00000340297:H284D;ENSP00000431012:H309D;ENSP00000381571:H309D;ENSP00000262112:H309D	ENSP00000262112:H309D	H	+	1	0	ARHGEF10	1815627	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	3.702000	0.54800	2.538000	0.85594	0.655000	0.94253	CAT		PASS	0.458	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				30	51	30	51	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16012606	16012606	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:16012606C>G	ENST00000262101.5	-	6	986	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	MSR1_ENST00000381998.4_Missense_Mutation_p.E289Q|MSR1_ENST00000350896.3_Missense_Mutation_p.E289Q|MSR1_ENST00000355282.2_Missense_Mutation_p.E289Q|MSR1_ENST00000536385.1_Missense_Mutation_p.E63Q|MSR1_ENST00000445506.2_Missense_Mutation_p.E307Q			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	289	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.E289Q(2)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GGACCACTTTCTCCAGTGGGA	0.403																																						uc003wwz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(865-867)GAA>CAA		macrophage scavenger receptor 1 isoform type 1							86.0	84.0	85.0					8																	16012606		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012606C>G	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.865G>C	8.37:g.16012606C>G	ENSP00000262101:p.Glu289Gln					MSR1_uc010lsu.2_Missense_Mutation_p.E307Q|MSR1_uc003wxa.2_Missense_Mutation_p.E289Q|MSR1_uc003wxb.2_Missense_Mutation_p.E289Q|MSR1_uc011kxz.1_Missense_Mutation_p.E63Q	p.E289Q	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	6	1063	-			289			Collagen-like.|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.865G>C	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882393	0.33255	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.93547	-3.07;-3.24;-3.24;-3.07;-1.82;-3.24;-3.24	4.87	-1.02	0.10135	.	0.615887	0.15239	N	0.272972	D	0.88485	0.6449	L	0.41824	1.3	0.09310	N	0.999999	B;B;B;B;B	0.20550	0.041;0.046;0.037;0.037;0.022	B;B;B;B;B	0.23574	0.016;0.047;0.022;0.022;0.027	T	0.74432	-0.3667	10	0.26408	T	0.33	.	13.0714	0.59064	0.1146:0.3265:0.5589:0.0	.	63;307;289;289;289	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	Q	289;289;307;289;79;289;63	ENSP00000262100:E289Q;ENSP00000262101:E289Q;ENSP00000405453:E307Q;ENSP00000347430:E289Q;ENSP00000430536:E79Q;ENSP00000371428:E289Q;ENSP00000444414:E63Q	ENSP00000262101:E289Q	E	-	1	0	MSR1	16056977	0.004000	0.15560	0.019000	0.16419	0.671000	0.39405	-0.160000	0.10041	-0.325000	0.08577	0.650000	0.86243	GAA		PASS	0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			43	37	43	37	---	---	---	---
EPHX2	2053	broad.mit.edu	37	8	27373843	27373843	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:27373843G>T	ENST00000521400.1	+	8	1268	c.838G>T	c.(838-840)Gct>Tct	p.A280S	EPHX2_ENST00000521780.1_Missense_Mutation_p.A214S|EPHX2_ENST00000380476.3_Missense_Mutation_p.A227S|EPHX2_ENST00000517536.1_Missense_Mutation_p.A97S|EPHX2_ENST00000518379.1_Missense_Mutation_p.A248S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	280	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.A280S(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CTAGATCCCTGCTCTGGCCCA	0.542											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xfu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(838-840)GCT>TCT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						367.0	311.0	330.0					8																	27373843		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27373843G>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.838G>T	8.37:g.27373843G>T	ENSP00000430269:p.Ala280Ser		OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EPHX2_uc010lut.1_Missense_Mutation_p.A280S|EPHX2_uc010luu.2_Missense_Mutation_p.A248S|EPHX2_uc010luv.2_Missense_Mutation_p.A214S|EPHX2_uc003xfv.2_Missense_Mutation_p.A227S|EPHX2_uc010luw.2_Missense_Mutation_p.A214S|EPHX2_uc011lam.1_Missense_Mutation_p.A136S	p.A280S	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	8	919	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	280			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.838G>T	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524441	0.64747	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	5.67	5.67	0.87782	.	0.044847	0.85682	D	0.000000	T	0.10723	0.0262	L	0.60845	1.875	0.51482	D	0.999926	P;P;P	0.45902	0.668;0.868;0.801	B;B;P	0.45881	0.318;0.446;0.496	T	0.01084	-1.1457	10	0.46703	T	0.11	-9.8483	17.2762	0.87116	0.0:0.0:1.0:0.0	.	248;280;280	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	S	280;97;214;227;284;248	ENSP00000430269:A280S;ENSP00000428875:A97S;ENSP00000430302:A214S;ENSP00000369843:A227S;ENSP00000427956:A248S	ENSP00000369843:A227S	A	+	1	0	EPHX2	27429760	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.425000	0.66470	2.677000	0.91161	0.561000	0.74099	GCT		PASS	0.542	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			4	178	4	178	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48719804	48719804	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:48719804G>T	ENST00000314191.2	-	70	9694	c.9638C>A	c.(9637-9639)cCc>cAc	p.P3213H	PRKDC_ENST00000523565.1_5'UTR|Y_RNA_ENST00000384719.1_RNA|PRKDC_ENST00000338368.3_Missense_Mutation_p.P3213H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3214	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.P3214H(1)|p.P3213H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCTGTCACTGGGGTCTCCATC	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(9640-9642)CCC>CAC	NHEJ	protein kinase, DNA-activated, catalytic							160.0	156.0	157.0					8																	48719804		1922	4139	6061	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48719804G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9638C>A	8.37:g.48719804G>T	ENSP00000313420:p.Pro3213His					PRKDC_uc003xqj.2_Missense_Mutation_p.P3214H|PRKDC_uc011ldh.1_Intron	p.P3214H	NM_006904	NP_008835	P78527	PRKDC_HUMAN			70	9698	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3214			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.9641C>A		.	.	.	.	.	.	.	.	.	.	G	7.917	0.737848	0.15574	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02395	4.38;4.31	5.67	2.3	0.28687	PIK-related kinase (1);PIK-related kinase, FAT (1);	1.618260	0.03072	N	0.157311	T	0.03390	0.0098	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.006	T	0.41858	-0.9485	10	0.44086	T	0.13	.	4.2826	0.10839	0.1129:0.263:0.4909:0.1333	.	3213;3214	E7EUY0;P78527	.;PRKDC_HUMAN	H	3213	ENSP00000313420:P3213H;ENSP00000345182:P3213H	ENSP00000313420:P3213H	P	-	2	0	PRKDC	48882357	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	0.681000	0.31386	0.655000	0.94253	CCC		PASS	0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		52	108	52	108	---	---	---	---
CA13	377677	broad.mit.edu	37	8	86193528	86193528	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:86193528C>T	ENST00000321764.3	+	7	1041	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	247					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R247C(1)		large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	GAGCAATCACCGCCCACCACA	0.498																																						uc003ydg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)CGC>TGC		carbonic anhydrase XIII							96.0	112.0	107.0					8																	86193528		2203	4300	6503	SO:0001583	missense	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193528C>T	BC052602	CCDS6236.1	8q21	2004-05-10				ENSG00000185015		"""Carbonic anhydrases"""	14914	protein-coding gene	gene with protein product		611436				14600151	Standard	NM_198584		Approved	CAXIII, FLJ37995, MGC59868	uc003ydg.2	Q8N1Q1		ENST00000321764.3:c.739C>T	8.37:g.86193528C>T	ENSP00000318912:p.Arg247Cys					CA13_uc003ydf.1_Intron	p.R247C	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN			7	1081	+			247						Missense_Mutation	SNP	ENST00000321764.3	37	c.739C>T	CCDS6236.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542181	0.65198	.	.	ENSG00000185015	ENST00000321764	D	0.84146	-1.81	5.32	5.32	0.75619	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.098510	0.64402	D	0.000001	D	0.95500	0.8538	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96721	0.9532	10	0.87932	D	0	-17.9778	13.7388	0.62836	0.1546:0.8454:0.0:0.0	.	247	Q8N1Q1	CAH13_HUMAN	C	247	ENSP00000318912:R247C	ENSP00000318912:R247C	R	+	1	0	CA13	86380780	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	4.241000	0.58707	2.648000	0.89879	0.561000	0.74099	CGC		PASS	0.498	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		123	202	123	202	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	98973728	98973728	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:98973728G>A	ENST00000520016.1	+	4	1052	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	MATN2_ENST00000254898.5_Missense_Mutation_p.A310T|MATN2_ENST00000524308.1_Missense_Mutation_p.A310T|MATN2_ENST00000522025.2_Missense_Mutation_p.A26T|MATN2_ENST00000521689.1_Missense_Mutation_p.A310T			O00339	MATN2_HUMAN	matrilin 2	310	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A310T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAGTGGCTACGCCCTGGCTGA	0.582																																						uc003yic.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(928-930)GCC>ACC		matrilin 2 isoform a precursor							93.0	97.0	95.0					8																	98973728		2067	4211	6278	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98973728G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.928G>A	8.37:g.98973728G>A	ENSP00000430487:p.Ala310Thr					MATN2_uc003yib.1_Missense_Mutation_p.A310T|MATN2_uc010mbh.1_Missense_Mutation_p.A310T|MATN2_uc003yid.2_Missense_Mutation_p.A310T|MATN2_uc003yie.1_Missense_Mutation_p.A310T|MATN2_uc010mbi.1_Intron	p.A310T	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		5	1159	+	Breast(36;1.43e-06)		310			EGF-like 2.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.928G>A	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.145|2.145	-0.395886|-0.395886	0.04899|0.04899	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000519585;ENST00000522270|ENST00000521041	D;D;D;D;D;D;T|.	0.85629|.	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;1.6|.	4.67|4.67	-1.17|-1.17	0.09648|0.09648	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);|.	1.150620|.	0.06378|.	N|.	0.714684|.	T|T	0.07458|0.07458	0.0188|0.0188	N|N	0.01091|0.01091	-1.02|-1.02	0.19575|0.19575	N|N	0.999967|0.999967	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.33854|0.33854	-0.9852|-0.9852	10|5	0.02654|.	T|.	1|.	-0.6593|-0.6593	2.7136|2.7136	0.05181|0.05181	0.485:0.0:0.1892:0.3258|0.485:0.0:0.1892:0.3258	.|.	310;310;310|.	O00339-2;O00339;Q8N2G3|.	.;MATN2_HUMAN;.|.	T|H	310;310;310;310;26;310;26;7|64	ENSP00000429977:A310T;ENSP00000254898:A310T;ENSP00000430221:A310T;ENSP00000429010:A26T;ENSP00000430487:A310T;ENSP00000429042:A26T;ENSP00000429825:A7T|.	ENSP00000254898:A310T|.	A|R	+|+	1|2	0|0	MATN2|MATN2	99042904|99042904	0.146000|0.146000	0.22672|0.22672	0.129000|0.129000	0.21949|0.21949	0.950000|0.950000	0.60333|0.60333	0.404000|0.404000	0.20999|0.20999	-0.205000|-0.205000	0.10219|0.10219	-0.290000|-0.290000	0.09829|0.09829	GCC|CGC		PASS	0.582	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			37	50	37	50	---	---	---	---
NIPAL2	79815	broad.mit.edu	37	8	99248401	99248401	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:99248401T>A	ENST00000341166.3	-	4	673	c.418A>T	c.(418-420)Aga>Tga	p.R140*	NIPAL2_ENST00000430223.2_Nonsense_Mutation_p.R140*|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	140						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R140*(1)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TCTGAGGCTCTCAAATTGTCT	0.313																																						uc003yil.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(418-420)AGA>TGA		NIPA-like domain containing 2							67.0	66.0	67.0					8																	99248401		2203	4300	6503	SO:0001587	stop_gained	79815					integral to membrane		g.chr8:99248401T>A	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.418A>T	8.37:g.99248401T>A	ENSP00000339256:p.Arg140*					NIPAL2_uc011lgw.1_5'UTR|NIPAL2_uc003yim.1_Nonsense_Mutation_p.R140*	p.R140*	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN			4	674	-			140					A2RTY8	Nonsense_Mutation	SNP	ENST00000341166.3	37	c.418A>T	CCDS6278.1	.	.	.	.	.	.	.	.	.	.	T	40	8.094904	0.98651	.	.	ENSG00000104361	ENST00000430223;ENST00000341166	.	.	.	5.7	5.7	0.88788	.	0.124901	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3892	12.3562	0.55176	0.0:0.0:0.0:1.0	.	.	.	.	X	140	.	ENSP00000339256:R140X	R	-	1	2	NIPAL2	99317577	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.480000	0.35464	2.170000	0.68504	0.482000	0.46254	AGA		PASS	0.313	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379677.1	NM_024759		21	36	21	36	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101146192	101146192	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:101146192C>G	ENST00000428847.2	-	5	2281	c.1965G>C	c.(1963-1965)agG>agC	p.R655S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	655					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R621S(2)|p.R655S(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TACACAGTCCCCTTTTCTTAT	0.453																																						uc003yjd.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(1963-1965)AGG>AGC		F-box protein 43 isoform b							109.0	107.0	107.0					8																	101146192		1883	4117	6000	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146192C>G	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1965G>C	8.37:g.101146192C>G	ENSP00000403293:p.Arg655Ser					FBXO43_uc003yje.2_Missense_Mutation_p.R621S	p.R655S	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		5	2678	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		655			IBR-type.			Missense_Mutation	SNP	ENST00000428847.2	37	c.1965G>C	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279999	0.59758	.	.	ENSG00000156509	ENST00000428847	T	0.63417	-0.04	5.42	3.63	0.41609	Zinc finger, C6HC-type (2);	0.168523	0.51477	D	0.000087	T	0.67126	0.2860	L	0.42744	1.35	0.38747	D	0.95401	D	0.76494	0.999	D	0.72338	0.977	T	0.68674	-0.5346	10	0.72032	D	0.01	-18.2611	5.6319	0.17516	0.1381:0.6537:0.0:0.2082	.	655	Q4G163	FBX43_HUMAN	S	655	ENSP00000403293:R655S	ENSP00000403293:R655S	R	-	3	2	FBXO43	101215368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.339000	0.33885	0.786000	0.33708	0.655000	0.94253	AGG		PASS	0.453	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		43	65	43	65	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101245659	101245659	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:101245659T>G	ENST00000388798.2	+	16	2200	c.2009T>G	c.(2008-2010)cTg>cGg	p.L670R	SPAG1_ENST00000251809.3_Missense_Mutation_p.L670R	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	670					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L670R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TACTTGAAGCTGTGCCAGTTT	0.423																																						uc003yjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2008-2010)CTG>CGG		sperm associated antigen 1							111.0	105.0	107.0					8																	101245659		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101245659T>G	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2009T>G	8.37:g.101245659T>G	ENSP00000373450:p.Leu670Arg					SPAG1_uc003yji.1_Missense_Mutation_p.L670R	p.L670R	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	16	2095	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	670			TPR 8.		A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2009T>G	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194346	0.78902	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.63255	-0.03;-0.03	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.882483	0.09996	N	0.729009	D	0.83778	0.5328	M	0.89414	3.03	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82057	-0.0646	10	0.72032	D	0.01	-10.9795	15.765	0.78120	0.0:0.0:0.0:1.0	.	670	Q07617	SPAG1_HUMAN	R	670	ENSP00000251809:L670R;ENSP00000373450:L670R	ENSP00000251809:L670R	L	+	2	0	SPAG1	101314835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.897000	0.69831	2.186000	0.69663	0.533000	0.62120	CTG		PASS	0.423	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		46	53	46	53	---	---	---	---
RNF19A	25897	broad.mit.edu	37	8	101281076	101281076	+	Silent	SNP	A	A	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:101281076A>C	ENST00000519449.1	-	6	1444	c.1128T>G	c.(1126-1128)gcT>gcG	p.A376A	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Silent_p.A376A	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	376					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A376A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CAGCTATTAAAGCGATTCCGA	0.438																																						uc003yjj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1126-1128)GCT>GCG		ring finger protein 19							118.0	107.0	111.0					8																	101281076		2203	4300	6503	SO:0001819	synonymous_variant	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101281076A>C	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1128T>G	8.37:g.101281076A>C						RNF19A_uc003yjk.1_Silent_p.A376A	p.A376A	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		6	1445	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		376			Helical; (Potential).		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	c.1128T>G	CCDS6286.1																																																																																				PASS	0.438	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		48	91	48	91	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103662514	103662514	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:103662514G>A	ENST00000285407.6	-	4	1589	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	KLF10_ENST00000395884.3_Missense_Mutation_p.A419V	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	430					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A430V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CATGGGGCACGCAAATTTCTT	0.532																																					Esophageal Squamous(16;495 519 2144 16528 44005)	uc011lhk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)GCG>GTG		Kruppel-like factor 10 isoform a							129.0	116.0	120.0					8																	103662514		2203	4300	6503	SO:0001583	missense	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103662514G>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1289C>T	8.37:g.103662514G>A	ENSP00000285407:p.Ala430Val					KLF10_uc011lhj.1_Missense_Mutation_p.A419V	p.A430V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		4	1443	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		430			C2H2-type 3.		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	c.1289C>T	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985167	0.35036	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.17213	2.29;2.29	5.79	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.077843	0.53938	N	0.000056	T	0.07503	0.0189	N	0.04508	-0.205	0.58432	D	0.999996	P;P	0.38440	0.631;0.53	B;B	0.35039	0.187;0.194	T	0.28332	-1.0047	10	0.08837	T	0.75	.	14.507	0.67761	0.0697:0.0:0.9303:0.0	.	430;419	Q13118;O75411	KLF10_HUMAN;.	V	430;419	ENSP00000285407:A430V;ENSP00000379222:A419V	ENSP00000285407:A430V	A	-	2	0	KLF10	103731690	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	4.528000	0.60580	1.452000	0.47756	0.655000	0.94253	GCG		PASS	0.532	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1			36	77	36	77	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	109001416	109001416	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:109001416C>G	ENST00000276659.5	-	3	771	c.151G>C	c.(151-153)Ggg>Cgg	p.G51R	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	51					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.G51R(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CGGCTACACCCATTGTCCTTT	0.413																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(151-153)GGG>CGG		R-spondin family, member 2 precursor							107.0	89.0	95.0					8																	109001416		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001416C>G	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.151G>C	8.37:g.109001416C>G	ENSP00000276659:p.Gly51Arg					RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron	p.G51R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	809	-			51					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.151G>C	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694814	0.88830	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	4.93	4.93	0.64822	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89104	0.3491	10	0.44086	T	0.13	-0.265	18.5137	0.90928	0.0:1.0:0.0:0.0	.	51	Q6UXX9	RSPO2_HUMAN	R	51;51;23;51	ENSP00000276659:G51R;ENSP00000430010:G51R;ENSP00000429159:G23R;ENSP00000430973:G51R	ENSP00000276659:G51R	G	-	1	0	RSPO2	109070592	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.323000	0.79105	2.451000	0.82905	0.563000	0.77884	GGG		PASS	0.413	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		37	49	37	49	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326189	113326189	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:113326189G>T	ENST00000297405.5	-	49	7886	c.7642C>A	c.(7642-7644)Cag>Aag	p.Q2548K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2478K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2508K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2444K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2548	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q2548K(1)|p.Q2508K(1)		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						GCTGACCACTGAAGAAATACT	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	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.(7642-7644)CAG>AAG		CUB and Sushi multiple domains 3 isoform 1							112.0	114.0	113.0					8																	113326189		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113326189G>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.7642C>A	8.37:g.113326189G>T	ENSP00000297405:p.Gln2548Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q1750K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2508K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2444K|CSMD3_uc003ynw.1_Missense_Mutation_p.Q259K	p.Q2548K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			49	7801	-			2548			CUB 14.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7642C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111838	0.56398	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.63	5.63	0.86233	CUB (5);	0.089017	0.47852	D	0.000210	T	0.15825	0.0381	N	0.01874	-0.695	0.46678	D	0.999158	B;B;B	0.18166	0.026;0.004;0.006	B;B;B	0.16289	0.015;0.01;0.009	T	0.12811	-1.0533	10	0.32370	T	0.25	.	19.6579	0.95851	0.0:0.0:1.0:0.0	.	2444;2548;2508	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2508;2548;1818;2444;2478	ENSP00000345799:Q2508K;ENSP00000297405:Q2548K;ENSP00000341558:Q1818K;ENSP00000412263:Q2444K;ENSP00000343124:Q2478K	ENSP00000297405:Q2548K	Q	-	1	0	CSMD3	113395365	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.932000	0.87634	2.636000	0.89361	0.579000	0.79373	CAG		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		35	66	35	66	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114326923	114326923	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:114326923C>T	ENST00000297405.5	-	2	522	c.278G>A	c.(277-279)tGg>tAg	p.W93*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W93*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W53*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W93*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	93	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W53*(1)|p.W93*(1)		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						TATTATTACCCATGTGCAGTT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	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.(277-279)TGG>TAG		CUB and Sushi multiple domains 3 isoform 1							169.0	164.0	165.0					8																	114326923		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:114326923C>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.278G>A	8.37:g.114326923C>T	ENSP00000297405:p.Trp93*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Nonsense_Mutation_p.W53*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W93*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.W93*|CSMD3_uc003ynx.3_Nonsense_Mutation_p.W93*	p.W93*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			2	437	-			93			Extracellular (Potential).|CUB 1.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.278G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	36	5.621511	0.96660	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	.	.	.	5.72	4.85	0.62838	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8001	0.63194	0.0:0.9265:0.0:0.0735	.	.	.	.	X	53;93;93;93	.	ENSP00000297405:W93X	W	-	2	0	CSMD3	114396099	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.810000	0.86072	1.426000	0.47256	-0.259000	0.10710	TGG		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		87	122	87	122	---	---	---	---
FAM49B	51571	broad.mit.edu	37	8	130861552	130861552	+	Silent	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:130861552A>G	ENST00000519824.2	-	10	1050	c.777T>C	c.(775-777)ggT>ggC	p.G259G	FAM49B_ENST00000522250.1_Silent_p.G113G|FAM49B_ENST00000401979.2_Silent_p.G259G|FAM49B_ENST00000517654.1_Silent_p.G259G|FAM49B_ENST00000519110.1_Silent_p.G259G|FAM49B_ENST00000523509.1_Silent_p.G259G|FAM49B_ENST00000522941.1_Silent_p.G113G|FAM49B_ENST00000522746.1_Silent_p.G259G|FAM49B_ENST00000519540.1_Silent_p.G259G	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	259						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.G259G(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GTATTATGACACCCACCATTA	0.358																																						uc003yss.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)GGT>GGC		hypothetical protein LOC51571							141.0	115.0	124.0					8																	130861552		2203	4300	6503	SO:0001819	synonymous_variant	51571							g.chr8:130861552A>G	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.777T>C	8.37:g.130861552A>G						FAM49B_uc003yst.2_Silent_p.G259G|FAM49B_uc003ysu.2_Silent_p.G259G|FAM49B_uc003ysv.2_Silent_p.G113G|FAM49B_uc003ysw.2_Silent_p.G259G|FAM49B_uc003ysx.2_Silent_p.G259G|FAM49B_uc003ysy.1_Silent_p.G259G	p.G259G	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		13	1326	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		259					Q96AZ5|Q9NW21|Q9NZE7	Silent	SNP	ENST00000519824.2	37	c.777T>C	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	A	9.793	1.178480	0.21787	.	.	ENSG00000153310	ENST00000311292	.	.	.	5.63	-7.59	0.01308	.	.	.	.	.	T	0.65668	0.2713	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74538	-0.3632	5	0.87932	D	0	-10.843	11.8234	0.52252	0.6731:0.0889:0.2379:0.0	.	.	.	.	R	213	.	ENSP00000311651:C213R	C	-	1	0	FAM49B	130930734	0.001000	0.12720	0.872000	0.34217	0.979000	0.70002	-1.210000	0.02999	-1.310000	0.02312	-0.386000	0.06593	TGT		PASS	0.358	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		23	57	23	57	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180146	139180146	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:139180146G>A	ENST00000395297.1	-	12	1420	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	417								p.P417L(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)			ACCTGTCGCAGGGCAGTCCAC	0.507										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1249-1251)CCT>CTT		hypothetical protein LOC51059							93.0	94.0	94.0					8																	139180146		1991	4173	6164	SO:0001583	missense	51059							g.chr8:139180146G>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.1250C>T	8.37:g.139180146G>A	ENSP00000378710:p.Pro417Leu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.P318L|FAM135B_uc003yuz.2_RNA	p.P417L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1421	-	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)		417					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1250C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627431	0.66901	.	.	ENSG00000147724	ENST00000395297	T	0.16897	2.31	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	M	0.75264	2.295	0.80722	D	1	P	0.35050	0.482	B	0.36534	0.227	T	0.01208	-1.1418	10	0.51188	T	0.08	-14.3214	13.2493	0.60041	0.0769:0.0:0.9231:0.0	.	417	Q49AJ0	F135B_HUMAN	L	417	ENSP00000378710:P417L	ENSP00000276737:P417L	P	-	2	0	FAM135B	139249328	1.000000	0.71417	0.960000	0.40013	0.348000	0.29142	6.883000	0.75595	2.894000	0.99253	0.655000	0.94253	CCT		PASS	0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		60	88	60	88	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144943648	144943648	+	Silent	SNP	G	G	C	rs368816370		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr8:144943648G>C	ENST00000525985.1	-	2	3845	c.3774C>G	c.(3772-3774)gcC>gcG	p.A1258A				P58107	EPIPL_HUMAN	epiplakin 1	1258						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.A1258A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCTGGCCTTGGCCCCAGAGG	0.711																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(3772-3774)GCC>GCG		epiplakin 1							10.0	12.0	12.0					8																	144943648		1989	4122	6111	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943648G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3774C>G	8.37:g.144943648G>C							p.A1258A	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	3787	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1258			Plectin 21.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.3774C>G																																																																																					PASS	0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	24	13	24	---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5070053	5070053	+	Splice_Site	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr9:5070053G>T	ENST00000381652.3	+	12	2135		c.e12+1		JAK2_ENST00000544510.1_Splice_Site|JAK2_ENST00000539801.1_Splice_Site	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2						actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.F547_N548ins12(2)|p.F547_N548ins11(1)|p.F547_N548insLIRNEDLIF(1)|p.?(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTGATATTTGTAAGTCATTA	0.308		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	5	Insertion - In frame(4)|Unknown(1)	p.F547_N548ins12(2)|p.F547_N548ins11(1)|p.F547_N548insLIRNEDLIF(1)	haematopoietic_and_lymphoid_tissue(4)|lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.e11+1		Janus kinase 2							78.0	74.0	76.0					9																	5070053		2202	4298	6500	SO:0001630	splice_region_variant	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5070053G>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1641+1G>T	9.37:g.5070053G>T						JAK2_uc003ziw.2_Splice_Site_p.F547_splice	p.F547_splice	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	11	1754	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)						O14636|O75297	Splice_Site	SNP	ENST00000381652.3	37	c.1641_splice	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284063	0.80803	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7538	0.88442	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAK2	5060053	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.422000	0.97458	2.270000	0.75569	0.460000	0.39030	.		PASS	0.308	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		Intron	3	29	3	29	---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15192599	15192599	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr9:15192599C>A	ENST00000512701.2	-	9	955	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000380850.4_Missense_Mutation_p.A307S|TTC39B_ENST00000355694.2_Missense_Mutation_p.A241S|TTC39B_ENST00000297615.5_Missense_Mutation_p.A238S|TTC39B_ENST00000507993.1_Missense_Mutation_p.A142S|TTC39B_ENST00000507285.1_Missense_Mutation_p.A142S			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	307								p.A307S(1)|p.A241S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAATTAAAGGCCCCACTGCCA	0.418																																						uc003zlr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(721-723)GCC>TCC		tetratricopeptide repeat domain 39B							89.0	89.0	89.0					9																	15192599		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15192599C>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.919G>T	9.37:g.15192599C>A	ENSP00000422496:p.Ala307Ser					TTC39B_uc003zlq.1_Missense_Mutation_p.A210S|TTC39B_uc011lmp.1_Missense_Mutation_p.A142S|TTC39B_uc010mie.1_Missense_Mutation_p.A239S|TTC39B_uc011lmq.1_Missense_Mutation_p.A241S|TTC39B_uc011lmr.1_Missense_Mutation_p.A172S|TTC39B_uc010mif.1_Missense_Mutation_p.A241S|TTC39B_uc003zls.1_Missense_Mutation_p.A142S|TTC39B_uc010mig.1_Missense_Mutation_p.A210S|TTC39B_uc011lms.1_RNA	p.A241S	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			9	842	-			241					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.721G>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960269	0.74016	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.54	5.54	0.83059	.	0.120232	0.56097	D	0.000027	T	0.61223	0.2330	M	0.64170	1.965	0.80722	D	1	D;D;P;P;P	0.64830	0.993;0.994;0.592;0.774;0.774	P;D;B;P;P	0.64237	0.873;0.923;0.306;0.627;0.627	T	0.53683	-0.8404	10	0.30854	T	0.27	-11.129	19.8379	0.96666	0.0:1.0:0.0:0.0	.	238;307;307;239;241	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	S	307;238;241;307;142;142	ENSP00000370231:A307S;ENSP00000297615:A238S;ENSP00000347920:A241S;ENSP00000422496:A307S;ENSP00000426539:A142S;ENSP00000423392:A142S	ENSP00000297615:A238S	A	-	1	0	TTC39B	15182599	0.995000	0.38212	0.998000	0.56505	0.983000	0.72400	2.055000	0.41345	2.765000	0.95021	0.655000	0.94253	GCC		PASS	0.418	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		72	23	72	23	---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95481276	95481276	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr9:95481276G>A	ENST00000375512.3	-	5	1718	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C	BICD2_ENST00000356884.6_Missense_Mutation_p.R551C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	551					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R551C(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGCATGACACGGTTGGGTGTC	0.677																																						uc004aso.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1651-1653)CGT>TGT		bicaudal D homolog 2 isoform 2							87.0	70.0	76.0					9																	95481276		2203	4299	6502	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481276G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1651C>T	9.37:g.95481276G>A	ENSP00000364662:p.Arg551Cys					BICD2_uc004asp.1_Missense_Mutation_p.R551C	p.R551C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			5	1708	-			551					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1651C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120685	0.77323	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.59224	0.28;0.28	5.39	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78894	-0.2024	10	0.72032	D	0.01	-15.648	12.6412	0.56711	0.0:0.0:0.8007:0.1993	.	551;551	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	551	ENSP00000349351:R551C;ENSP00000364662:R551C	ENSP00000349351:R551C	R	-	1	0	BICD2	94521097	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	2.130000	0.42064	2.707000	0.92482	0.561000	0.74099	CGT		PASS	0.677	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		48	22	48	22	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134025771	134025771	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr9:134025771C>T	ENST00000359428.5	+	15	2245	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.P702S|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.P691S			P35658	NU214_HUMAN	nucleoporin 214kDa	701	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.P701S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGATTCAGATCCTGTAATGGC	0.453			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(2101-2103)CCT>TCT		nucleoporin 214kDa							108.0	104.0	106.0					9																	134025771		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134025771C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2101C>T	9.37:g.134025771C>T	ENSP00000352400:p.Pro701Ser					NUP214_uc004cah.2_Missense_Mutation_p.P691S|NUP214_uc004cai.2_Missense_Mutation_p.P131S|NUP214_uc004caf.1_Missense_Mutation_p.P690S|NUP214_uc010mzf.2_5'UTR	p.P701S	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	15	2212	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	701			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2101C>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198521	0.79015	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.33654	1.4;1.41;1.4	6.16	6.16	0.99307	.	0.000000	0.43919	D	0.000503	T	0.42177	0.1191	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.978;0.978	T	0.46884	-0.9159	10	0.46703	T	0.11	-26.0191	18.0158	0.89239	0.0:1.0:0.0:0.0	.	295;691;701	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	S	701;691;702;690;295;130	ENSP00000352400:P701S;ENSP00000396576:P691S;ENSP00000405014:P702S	ENSP00000352400:P701S	P	+	1	0	NUP214	133015592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.871000	0.75531	2.937000	0.99478	0.650000	0.86243	CCT		PASS	0.453	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		43	20	43	20	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17107605	17107605	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:17107605G>T	ENST00000377833.4	-	22	3106	c.3041C>A	c.(3040-3042)aCa>aAa	p.T1014K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1014	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T1014K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCACTGCTTGTGAGAGATGG	0.408																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3040-3042)ACA>AAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						225.0	202.0	210.0					10																	17107605		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107605G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3041C>A	10.37:g.17107605G>T	ENSP00000367064:p.Thr1014Lys						p.T1014K	NM_001081	NP_001072	O60494	CUBN_HUMAN			22	3093	-			1014			CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3041C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739864	0.49045	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.92	1.34	0.21922	CUB (5);	0.506281	0.16902	N	0.194855	T	0.45915	0.1366	M	0.71871	2.18	0.80722	D	1	D	0.67145	0.996	P	0.57283	0.817	T	0.48692	-0.9013	10	0.72032	D	0.01	.	11.1288	0.48334	0.3061:0.0:0.6939:0.0	.	1014	O60494	CUBN_HUMAN	K	1014	ENSP00000367064:T1014K	ENSP00000367064:T1014K	T	-	2	0	CUBN	17147611	0.998000	0.40836	0.845000	0.33349	0.085000	0.17905	1.729000	0.38115	0.361000	0.24292	0.650000	0.86243	ACA		PASS	0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		53	88	53	88	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21120411	21120411	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:21120411C>T	ENST00000377122.4	-	15	1947	c.1551G>A	c.(1549-1551)atG>atA	p.M517I	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	517					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.M517I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTGGCTGGCCATCTCGGATG	0.428																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1549-1551)ATG>ATA		nebulette sarcomeric isoform							140.0	132.0	134.0					10																	21120411		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21120411C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1551G>A	10.37:g.21120411C>T	ENSP00000366326:p.Met517Ile					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.M517I	NM_006393	NP_006384	O76041	NEBL_HUMAN			15	1948	-			517			Nebulin 14.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1551G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284168	0.23392	.	.	ENSG00000078114	ENST00000377122	T	0.38240	1.15	5.54	4.64	0.57946	.	0.162296	0.53938	N	0.000044	T	0.09113	0.0225	N	0.00382	-1.575	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.11348	-1.0591	10	0.13853	T	0.58	.	7.7256	0.28757	0.2613:0.658:0.0:0.0807	.	517	O76041	NEBL_HUMAN	I	517	ENSP00000366326:M517I	ENSP00000366326:M517I	M	-	3	0	NEBL	21160417	0.945000	0.32115	1.000000	0.80357	0.990000	0.78478	-0.003000	0.12901	1.481000	0.48307	0.591000	0.81541	ATG		PASS	0.428	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		42	69	42	69	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887113	25887113	+	Nonsense_Mutation	SNP	C	C	A	rs372800397		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:25887113C>A	ENST00000376351.3	+	11	2917	c.2558C>A	c.(2557-2559)tCg>tAg	p.S853*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	853					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S853*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAATCCCTGTCGGGTAAAAAA	0.502																																						uc001isj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2557-2559)TCG>TAG		G protein-coupled receptor 158 precursor							87.0	98.0	94.0					10																	25887113		2203	4300	6503	SO:0001587	stop_gained	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887113C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2558C>A	10.37:g.25887113C>A	ENSP00000365529:p.Ser853*					GPR158_uc001isk.2_Nonsense_Mutation_p.S228*	p.S853*	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2618	+			853			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Nonsense_Mutation	SNP	ENST00000376351.3	37	c.2558C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	41	8.909492	0.98998	.	.	ENSG00000151025	ENST00000376351	.	.	.	5.79	3.95	0.45737	.	1.339440	0.05089	N	0.484832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.666	0.23041	0.2463:0.6195:0.0:0.1342	.	.	.	.	X	853	.	ENSP00000365529:S853X	S	+	2	0	GPR158	25927119	0.051000	0.20477	0.002000	0.10522	0.130000	0.20726	1.454000	0.35178	0.799000	0.34018	0.650000	0.86243	TCG		PASS	0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		42	86	42	86	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43654346	43654346	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:43654346C>T	ENST00000374466.3	+	3	1180	c.845C>T	c.(844-846)aCt>aTt	p.T282I	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.T282I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	282					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.T282I(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCTGAAAGAACTGAAGCATTT	0.373																																						uc001jan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(844-846)ACT>ATT		chondroitin sulfate							75.0	73.0	74.0					10																	43654346		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654346C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.845C>T	10.37:g.43654346C>T	ENSP00000363590:p.Thr282Ile					CSGALNACT2_uc001jam.1_Missense_Mutation_p.T282I	p.T282I	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			3	1180	+			282			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.845C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095279	0.56075	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.33865	1.39;2.52	5.57	5.57	0.84162	.	0.095500	0.64402	D	0.000001	T	0.37376	0.1001	L	0.43152	1.355	0.54753	D	0.999982	P;P	0.51537	0.72;0.946	B;P	0.44860	0.312;0.462	T	0.04678	-1.0934	10	0.22109	T	0.4	-15.6238	19.5366	0.95255	0.0:1.0:0.0:0.0	.	282;282	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	I	282	ENSP00000363590:T282I;ENSP00000363588:T282I	ENSP00000363588:T282I	T	+	2	0	CSGALNACT2	42974352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.423000	0.59861	2.622000	0.88805	0.591000	0.81541	ACT		PASS	0.373	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		12	41	12	41	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48371120	48371120	+	Silent	SNP	C	C	T	rs149528341		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:48371120C>T	ENST00000395702.2	+	2	815	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ZNF488_ENST00000586537.1_Silent_p.L89L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	196					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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)	p.L196L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTGGACTCCTCAACACTACAG	0.532																																						uc001jex.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(586-588)CTC>CTT		zinc finger protein 488							116.0	109.0	111.0					10																	48371120		2203	4300	6503	SO:0001819	synonymous_variant	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371120C>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.588C>T	10.37:g.48371120C>T						ZNF488_uc001jey.2_Silent_p.L89L	p.L196L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			2	750	+			196					Q05CE0	Silent	SNP	ENST00000395702.2	37	c.588C>T	CCDS7217.1																																																																																				PASS	0.532	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		50	21	50	21	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72289798	72289798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:72289798C>T	ENST00000263563.6	+	4	710	c.442C>T	c.(442-444)Cag>Tag	p.Q148*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	148						cytosol (GO:0005829)		p.Q148*(1)									GCGGGTCCTCCAGAAACTCCA	0.632																																						uc001jrd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(442-444)CAG>TAG		KIAA1274							45.0	45.0	45.0					10																	72289798		2203	4300	6503	SO:0001587	stop_gained	27143							g.chr10:72289798C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.442C>T	10.37:g.72289798C>T	ENSP00000263563:p.Gln148*						p.Q148*	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			4	723	+			148					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	c.442C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	40	7.968806	0.98588	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.34	5.34	0.76211	.	0.055848	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.3177	19.0411	0.92999	0.0:1.0:0.0:0.0	.	.	.	.	X	148	.	ENSP00000263563:Q148X	Q	+	1	0	KIAA1274	71959804	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.788000	0.69020	2.673000	0.90976	0.557000	0.71058	CAG		PASS	0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		12	8	12	8	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73326642	73326642	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:73326642G>T	ENST00000224721.6	+	6	593	c.588G>T	c.(586-588)cgG>cgT	p.R196R	CDH23_ENST00000461841.3_Silent_p.R236R|CDH23_ENST00000398809.4_Silent_p.R191R|CDH23_ENST00000398842.3_Silent_p.R191R|CDH23_ENST00000299366.7_Silent_p.R236R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R191R(1)|p.R196R(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGTGATCCGGGAGCTGGACT	0.657																																						uc001jrx.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(571-573)CGG>CGT		cadherin-like 23 isoform 1 precursor							42.0	46.0	45.0					10																	73326642		2060	4185	6245	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73326642G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.588G>T	10.37:g.73326642G>T						CDH23_uc001jrw.3_Silent_p.R191R|CDH23_uc001jrv.2_Silent_p.R186R|CDH23_uc009xql.2_Silent_p.R236R	p.R191R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			7	950	+			191			Cadherin 2.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.573G>T																																																																																					PASS	0.657	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		22	11	22	11	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87487767	87487767	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:87487767G>A	ENST00000327946.7	-	10	1463	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	GRID1_ENST00000536331.1_Missense_Mutation_p.P31S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	460					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.P460S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TAGCGCTTGGGCTGTCCTAGG	0.473										Multiple Myeloma(13;0.14)																												uc001kdl.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1378-1380)CCC>TCC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						169.0	163.0	165.0					10																	87487767		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487767G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1378C>T	10.37:g.87487767G>A	ENSP00000330148:p.Pro460Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P31S	p.P460S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1479	-			460			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1378C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465716	0.63513	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.10099	2.91;2.91	5.62	5.62	0.85841	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.048700	0.85682	D	0.000000	T	0.12774	0.0310	L	0.43701	1.375	0.80722	D	1	P	0.38677	0.642	B	0.35073	0.195	T	0.01706	-1.1291	10	0.56958	D	0.05	.	18.6185	0.91313	0.0:0.0:1.0:0.0	.	460	Q9ULK0	GRID1_HUMAN	S	460;31	ENSP00000330148:P460S;ENSP00000444455:P31S	ENSP00000330148:P460S	P	-	1	0	GRID1	87477747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.646000	0.89796	0.650000	0.86243	CCC		PASS	0.473	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		105	59	105	59	---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94409662	94409662	+	Silent	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:94409662C>G	ENST00000260731.3	+	20	2931	c.2841C>G	c.(2839-2841)ctC>ctG	p.L947L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	947					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.L947L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGAACATCTCCTTGATCAGC	0.373																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2839-2841)CTC>CTG		kinesin family member 11							81.0	75.0	77.0					10																	94409662		2203	4300	6503	SO:0001819	synonymous_variant	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94409662C>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2841C>G	10.37:g.94409662C>G						KIF11_uc010qnq.1_RNA	p.L947L	NM_004523	NP_004514	P52732	KIF11_HUMAN			20	3149	+			947					A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	c.2841C>G	CCDS7422.1																																																																																				PASS	0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		25	24	25	24	---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94410206	94410206	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:94410206C>G	ENST00000260731.3	+	21	3061	c.2971C>G	c.(2971-2973)Cta>Gta	p.L991V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	991					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.L991V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGAACCTCTAAGTCAAGA	0.438																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2971-2973)CTA>GTA		kinesin family member 11							160.0	150.0	153.0					10																	94410206		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94410206C>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2971C>G	10.37:g.94410206C>G	ENSP00000260731:p.Leu991Val					KIF11_uc010qnq.1_RNA	p.L991V	NM_004523	NP_004514	P52732	KIF11_HUMAN			21	3279	+			991					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2971C>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	6.219	0.408587	0.11812	.	.	ENSG00000138160	ENST00000260731	T	0.63096	-0.02	5.41	-3.05	0.05396	.	1.872890	0.02632	N	0.104488	T	0.46308	0.1386	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.32295	-0.9912	10	0.11794	T	0.64	.	10.9959	0.47575	0.0:0.2279:0.6235:0.1486	.	991	P52732	KIF11_HUMAN	V	991	ENSP00000260731:L991V	ENSP00000260731:L991V	L	+	1	2	KIF11	94400186	0.000000	0.05858	0.003000	0.11579	0.168000	0.22595	-2.002000	0.01464	-0.811000	0.04369	-0.311000	0.09066	CTA		PASS	0.438	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		45	28	45	28	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101590552	101590552	+	Missense_Mutation	SNP	G	G	A	rs574920702		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:101590552G>A	ENST00000370449.4	+	21	2940	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.E943K(2)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAAGGAAGACGAAGAACTAGT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20353	0.0		0.0	False		,,,				2504	0.0					uc001kqf.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(2827-2829)GAA>AAA		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						90.0	88.0	88.0					10																	101590552		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101590552G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2827G>A	10.37:g.101590552G>A	ENSP00000359478:p.Glu943Lys						p.E943K	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	21	2966	+		Colorectal(252;0.234)	943			Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.2827G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025443	0.35701	.	.	ENSG00000023839	ENST00000370449	D	0.89485	-2.52	5.95	-1.85	0.07784	ABC transporter, transmembrane domain, type 1 (1);	0.770165	0.12916	N	0.428583	T	0.74935	0.3782	N	0.26130	0.795	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.59225	-0.7494	10	0.06236	T	0.91	-3.0606	6.9095	0.24327	0.3955:0.2817:0.3228:0.0	.	943	Q92887	MRP2_HUMAN	K	943	ENSP00000359478:E943K	ENSP00000359478:E943K	E	+	1	0	ABCC2	101580542	0.003000	0.15002	0.000000	0.03702	0.348000	0.29142	0.531000	0.23052	-0.127000	0.11661	0.561000	0.74099	GAA		PASS	0.418	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		42	23	42	23	---	---	---	---
ELOVL3	83401	broad.mit.edu	37	10	103988822	103988822	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:103988822A>G	ENST00000370005.3	+	4	847	c.626A>G	c.(625-627)cAg>cGg	p.Q209R		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	209					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.Q209R(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CAGATCTTGCAGATGTTTGTA	0.527																																						uc001kut.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(625-627)CAG>CGG		elongation of very long chain fatty acids like							140.0	124.0	129.0					10																	103988822		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988822A>G	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.626A>G	10.37:g.103988822A>G	ENSP00000359022:p.Gln209Arg						p.Q209R	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	789	+		Colorectal(252;0.207)	209			Helical; (Potential).		Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.626A>G	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002369	0.93227	.	.	ENSG00000119915	ENST00000370005	T	0.44083	0.93	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000030	T	0.72309	0.3444	M	0.93106	3.38	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.80115	-0.1517	10	0.87932	D	0	-27.2237	14.7458	0.69490	1.0:0.0:0.0:0.0	.	209	Q9HB03	ELOV3_HUMAN	R	209	ENSP00000359022:Q209R	ENSP00000359022:Q209R	Q	+	2	0	ELOVL3	103978812	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.339000	0.96797	2.075000	0.62263	0.528000	0.53228	CAG		PASS	0.527	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		3	38	3	38	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134012417	134012417	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr10:134012417C>T	ENST00000338492.4	+	8	917	c.753C>T	c.(751-753)taC>taT	p.Y251Y	DPYSL4_ENST00000368629.1_Silent_p.Y151Y|DPYSL4_ENST00000368627.1_Silent_p.Y151Y	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	251					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.Y251Y(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCCCGCTGTACGTCACCAAGG	0.667																																						uc009ybb.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(751-753)TAC>TAT		dihydropyrimidinase-like 4							87.0	72.0	77.0					10																	134012417		2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134012417C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.753C>T	10.37:g.134012417C>T							p.Y251Y	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	8	907	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	251					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.753C>T	CCDS7665.1																																																																																				PASS	0.667	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			34	23	34	23	---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249621	3249621	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:3249621G>A	ENST00000389832.5	-	2	715	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R136C|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R136C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGGTGGCGTGGGCGGCGG	0.692																																						uc001lxq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(406-408)CGC>TGC		MAS-related GPR, member E							12.0	19.0	17.0					11																	3249621		2162	4263	6425	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249621G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.409C>T	11.37:g.3249621G>A	ENSP00000374482:p.Arg137Cys						p.R136C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	716	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	136			Cytoplasmic (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.406C>T		.	.	.	.	.	.	.	.	.	.	g	14.50	2.553837	0.45487	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.46	0.0781	0.14411	GPCR, rhodopsin-like superfamily (1);	0.784752	0.10608	U	0.654779	T	0.56171	0.1967	M	0.70842	2.15	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.43360	-0.9396	9	0.66056	D	0.02	-18.8999	5.2251	0.15389	0.1117:0.0:0.3209:0.5673	.	136	Q86SM8	MRGRE_HUMAN	C	137;136	.	ENSP00000374482:R136C	R	-	1	0	MRGPRE	3206197	0.000000	0.05858	0.075000	0.20258	0.832000	0.47134	-1.254000	0.02874	-0.198000	0.10333	0.484000	0.47621	CGC		PASS	0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		6	7	6	7	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080587	5080588	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:5080587_5080588GG>TT	ENST00000321522.2	-	1	269_270	c.270_271CC>AA	c.(268-273)aaCCtc>aaAAtc	p.90_91NL>KI		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N90K(1)|p.N90_L91>KI(1)|p.L91I(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCCCTCTGAGGTTGATCCAGA	0.485																																						uc010qyw.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|skin(1)	3						c.(271-273)CTC>ATC|c.(268-270)AAC>AAA		olfactory receptor, family 52, subfamily E,																																				SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080587G>T|g.chr11:5080588G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.270_271delinsTT	11.37:g.5080587_5080588delinsTT	ENSP00000322088:p.N90_L91delinsKI						p.L91I|p.N90K	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	271|270	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	91|90			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.271C>A|c.270C>A	CCDS31371.1																																																																																				PASS	0.485	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		15	15	15	15	---	---	---	---
OR52E2	119678	broad.mit.edu	37	11	5080785	5080785	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:5080785G>T	ENST00000321522.2	-	1	72	c.73C>A	c.(73-75)Ctt>Att	p.L25I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25I(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGATGTGAAGTGTTTCTAGT	0.488																																						uc010qyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(73-75)CTT>ATT		olfactory receptor, family 52, subfamily E,							106.0	98.0	100.0					11																	5080785		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080785G>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.73C>A	11.37:g.5080785G>T	ENSP00000322088:p.Leu25Ile						p.L25I	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	73	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	25			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321522.2	37	c.73C>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	G	1.246	-0.619893	0.03636	.	.	ENSG00000176787	ENST00000321522	T	0.00603	6.28	3.57	0.656	0.17844	.	1.292460	0.05735	N	0.600410	T	0.00468	0.0015	N	0.25825	0.765	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48547	-0.9026	10	0.22706	T	0.39	.	0.7257	0.00948	0.3073:0.1635:0.362:0.1671	.	25	Q8NGJ4	O52E2_HUMAN	I	25	ENSP00000322088:L25I	ENSP00000322088:L25I	L	-	1	0	OR52E2	5037361	0.000000	0.05858	0.007000	0.13788	0.619000	0.37552	-4.145000	0.00286	0.164000	0.19529	-0.156000	0.13503	CTT		PASS	0.488	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		24	43	24	43	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023926	6023926	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:6023926G>T	ENST00000330728.4	-	1	498	c.453C>A	c.(451-453)gcC>gcA	p.A151A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A151A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGAAGCAGGCTGGGAAGC	0.542																																						uc010qzv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(451-453)GCC>GCA		olfactory receptor, family 56, subfamily A,							91.0	83.0	86.0					11																	6023926		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023926G>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.453C>A	11.37:g.6023926G>T							p.A151A	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	453	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	99			Extracellular (Potential).		B9EH17	Silent	SNP	ENST00000330728.4	37	c.453C>A	CCDS31404.1																																																																																				PASS	0.542	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		28	48	28	48	---	---	---	---
OR56A1	120796	broad.mit.edu	37	11	6048912	6048913	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:6048912_6048913GG>TT	ENST00000316650.5	-	1	58_59	c.22_23CC>AA	c.(22-24)CCc>AAc	p.P8N		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P8T(2)|p.P8N(1)|p.P8H(1)		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)		GCTGTTGCTGGGTGACGCCATA	0.49																																						uc010qzw.1																			4	Substitution - Missense(4)	p.P8T(1)	lung(3)|ovary(1)	ovary(2)|breast(1)	3						c.(22-24)CCC>CAC|c.(22-24)CCC>ACC		olfactory receptor, family 56, subfamily A,																																				SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048912G>T|g.chr11:6048913G>T	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.22_23delinsTT	11.37:g.6048912_6048913delinsTT	ENSP00000321246:p.Pro8Asn						p.P8H|p.P8T	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	23|22	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	8			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.23C>A|c.22C>A	CCDS31405.1																																																																																				PASS	0.490	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		70	119|118	70	118	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7324593	7324593	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:7324593C>A	ENST00000318881.6	+	2	706	c.469C>A	c.(469-471)Caa>Aaa	p.Q157K	SYT9_ENST00000396716.2_Missense_Mutation_p.Q125K	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	157					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.Q157K(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CGTGCAGCGCCAAGTCACAGA	0.587																																						uc001mfe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(469-471)CAA>AAA		synaptotagmin IX							46.0	40.0	42.0					11																	7324593		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324593C>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.469C>A	11.37:g.7324593C>A	ENSP00000324419:p.Gln157Lys					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.Q157K	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	706	+			157			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000318881.6	37	c.469C>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017340	0.93404	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.61392	0.11;0.2	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.78438	0.4283	M	0.85777	2.775	0.58432	D	0.999999	D	0.71674	0.998	D	0.72982	0.979	T	0.78378	-0.2227	10	0.40728	T	0.16	.	17.3871	0.87420	0.0:1.0:0.0:0.0	.	157	Q86SS6	SYT9_HUMAN	K	125;157	ENSP00000379944:Q125K;ENSP00000324419:Q157K	ENSP00000324419:Q157K	Q	+	1	0	SYT9	7281169	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.444000	0.80532	2.698000	0.92095	0.655000	0.94253	CAA		PASS	0.587	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		8	21	8	21	---	---	---	---
WEE1	7465	broad.mit.edu	37	11	9603115	9603115	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:9603115G>C	ENST00000450114.2	+	6	1431	c.1178G>C	c.(1177-1179)aGa>aCa	p.R393T	RN7SL56P_ENST00000470034.2_RNA|WEE1_ENST00000299613.6_Missense_Mutation_p.R179T	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R393T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAAAACTACAGAATCATGAGT	0.338																																						uc001mhs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5						c.(1177-1179)AGA>ACA		WEE1 tyrosine kinase isoform 1							89.0	89.0	89.0					11																	9603115		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9603115G>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1178G>C	11.37:g.9603115G>C	ENSP00000402084:p.Arg393Thr					WEE1_uc001mht.2_Missense_Mutation_p.R179T	p.R393T	NM_003390	NP_003381	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	6	1431	+			393			Protein kinase.		B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.1178G>C	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245382	0.59103	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000524612	T;T;T	0.65178	-0.14;-0.14;-0.14	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58694	0.2140	L	0.52011	1.625	0.80722	D	1	P	0.38863	0.65	B	0.41174	0.349	T	0.58255	-0.7668	10	0.37606	T	0.19	-16.2154	12.6895	0.56966	0.076:0.0:0.924:0.0	.	393	P30291	WEE1_HUMAN	T	393;179;21	ENSP00000402084:R393T;ENSP00000299613:R179T;ENSP00000434446:R21T	ENSP00000299613:R179T	R	+	2	0	WEE1	9559691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.451000	0.66632	2.634000	0.89283	0.591000	0.81541	AGA		PASS	0.338	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		28	48	28	48	---	---	---	---
INSC	387755	broad.mit.edu	37	11	15247298	15247298	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:15247298A>G	ENST00000379554.3	+	9	1281	c.1235A>G	c.(1234-1236)cAg>cGg	p.Q412R	INSC_ENST00000530161.1_Missense_Mutation_p.Q365R|INSC_ENST00000424273.1_Missense_Mutation_p.Q323R|INSC_ENST00000525218.1_Missense_Mutation_p.Q323R|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.Q365R|INSC_ENST00000379556.3_Missense_Mutation_p.Q365R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	412					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.Q412R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ATGCTCCTGCAGTTGAATGCC	0.572																																						uc001mly.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(1234-1236)CAG>CGG		inscuteable isoform a							57.0	57.0	57.0					11																	15247298		2034	4196	6230	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15247298A>G	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1235A>G	11.37:g.15247298A>G	ENSP00000368872:p.Gln412Arg					INSC_uc001mlz.2_Missense_Mutation_p.Q365R|INSC_uc001mma.2_Missense_Mutation_p.Q365R|INSC_uc010rcs.1_Missense_Mutation_p.Q400R|INSC_uc001mmb.2_Missense_Mutation_p.Q365R|INSC_uc001mmc.2_Missense_Mutation_p.Q323R	p.Q412R	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			9	1281	+			412					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1235A>G	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488065	0.64074	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	L	0.27053	0.805	0.80722	D	1	B;D;D;B	0.67145	0.0;0.981;0.996;0.347	B;D;D;B	0.75484	0.005;0.969;0.986;0.12	T	0.55711	-0.8098	10	0.38643	T	0.18	-19.7825	16.8061	0.85666	1.0:0.0:0.0:0.0	.	400;323;365;412	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	R	412;365;323;365;365;323	ENSP00000368872:Q412R;ENSP00000368874:Q365R;ENSP00000389161:Q323R;ENSP00000435022:Q365R;ENSP00000436194:Q365R;ENSP00000436113:Q323R	ENSP00000368872:Q412R	Q	+	2	0	INSC	15203874	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.708000	0.74660	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.572	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		20	20	20	20	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033036	30033036	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:30033036G>T	ENST00000328224.6	-	2	2423	c.1190C>A	c.(1189-1191)gCa>gAa	p.A397E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	397					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.A397E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAAGAAGAGTGCTTGGCTGGG	0.463																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1189-1191)GCA>GAA		potassium voltage-gated channel, shaker-related							79.0	76.0	77.0					11																	30033036		2066	4241	6307	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033036G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1190C>A	11.37:g.30033036G>T	ENSP00000328511:p.Ala397Glu						p.A397E	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2342	-			397						Missense_Mutation	SNP	ENST00000328224.6	37	c.1190C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572143	0.45798	.	.	ENSG00000182255	ENST00000328224	D	0.98455	-4.94	5.3	5.3	0.74995	Ion transport (1);	0.136915	0.51477	D	0.000089	D	0.97639	0.9226	L	0.54863	1.705	0.58432	D	0.999996	P	0.42692	0.787	P	0.46850	0.529	D	0.97925	1.0317	10	0.46703	T	0.11	.	18.9734	0.92724	0.0:0.0:1.0:0.0	.	397	P22459	KCNA4_HUMAN	E	397	ENSP00000328511:A397E	ENSP00000328511:A397E	A	-	2	0	KCNA4	29989612	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	9.869000	0.99810	2.485000	0.83878	0.563000	0.77884	GCA		PASS	0.463	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		27	31	27	31	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30925146	30925146	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:30925146A>T	ENST00000597505.1	-	30	4392	c.4393T>A	c.(4393-4395)Ttg>Atg	p.L1465M	DCDC1_ENST00000406071.2_Missense_Mutation_p.L200M|DCDC1_ENST00000339794.5_Missense_Mutation_p.L544M			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.L152M(1)|p.L544M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAATCACGCAAGGTAAAGATT	0.433																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.																																				SO:0001583	missense	0							g.chr11:30925146A>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4393T>A	11.37:g.30925146A>T	ENSP00000472625:p.Leu1465Met					uc009yjk.1_Missense_Mutation_p.L913M|uc009yjj.1_RNA								10		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1496T>A		.	.	.	.	.	.	.	.	.	.	A	12.28	1.891803	0.33442	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.95171	-3.63;-3.63	5.3	1.68	0.24146	Doublecortin domain (2);	0.000000	0.41938	D	0.000782	D	0.95072	0.8404	L	0.53249	1.67	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88241	0.2910	10	0.40728	T	0.16	-8.5294	8.5294	0.33324	0.6873:0.0:0.3127:0.0	.	544	Q6ZRR9	DCDC5_HUMAN	M	200;544	ENSP00000385936:L200M;ENSP00000341700:L544M	ENSP00000341700:L544M	L	-	1	2	DCDC5	30881722	0.481000	0.25941	0.047000	0.18901	0.464000	0.32679	0.218000	0.17622	0.415000	0.25817	0.533000	0.62120	TTG		PASS	0.433	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		12	18	12	18	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32697138	32697138	+	Silent	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:32697138T>C	ENST00000335185.5	-	9	661	c.618A>G	c.(616-618)caA>caG	p.Q206Q	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	206								p.Q206Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTCAGCTTCTTGTTTTTTAT	0.274																																						uc001mtv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(616-618)CAA>CAG		sarcoma antigen NY-SAR-79							32.0	31.0	31.0					11																	32697138		1786	4031	5817	SO:0001819	synonymous_variant	493860							g.chr11:32697138T>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.618A>G	11.37:g.32697138T>C						CCDC73_uc001mtw.1_Silent_p.Q206Q	p.Q206Q	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			9	662	-	Breast(20;0.112)		206			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	c.618A>G	CCDS41630.1																																																																																				PASS	0.274	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		8	14	8	14	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33566385	33566385	+	Missense_Mutation	SNP	C	C	A	rs367943497		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:33566385C>A	ENST00000321505.4	+	2	2135	c.1955C>A	c.(1954-1956)cCa>cAa	p.P652Q	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P658Q|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P658Q			Q6ZVL6	K154L_HUMAN	KIAA1549-like	652						integral component of membrane (GO:0016021)		p.P652Q(1)|p.P658Q(1)									AAATCAAGTCCACCTGCACTG	0.512																																						uc001mup.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1972-1974)CCA>CAA		hypothetical protein LOC25758							42.0	43.0	43.0					11																	33566385		2043	4189	6232	SO:0001583	missense	25758					integral to membrane		g.chr11:33566385C>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1955C>A	11.37:g.33566385C>A	ENSP00000315295:p.Pro652Gln					C11orf41_uc001mun.1_Missense_Mutation_p.P658Q	p.P658Q	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			2	2097	+			652					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.1973C>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.38|10.38	1.333908|1.333908	0.24253|0.24253	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	4.87|4.87	3.74|3.74	0.42951|0.42951	.|.	.|0.397638	.|0.21309	.|N	.|0.076675	T|T	0.44371|0.44371	0.1290|0.1290	M|M	0.69823|0.69823	2.125|2.125	0.24864|0.24864	N|N	0.992321|0.992321	.|P;B	.|0.49961	.|0.93;0.441	.|B;B	.|0.43478	.|0.383;0.421	T|T	0.46665|0.46665	-0.9175|-0.9175	5|9	.|0.49607	.|T	.|0.09	-3.2625|-3.2625	12.3576|12.3576	0.55184|0.55184	0.0:0.9054:0.0:0.0946|0.0:0.9054:0.0:0.0946	.|.	.|658;658	.|E9PAT2;Q6ZVL6-2	.|.;.	N|Q	50|652;658;658;492	.|.	.|ENSP00000265654:P658Q	H|P	+|+	1|2	0|0	C11orf41|C11orf41	33522961|33522961	0.225000|0.225000	0.23685|0.23685	0.256000|0.256000	0.24389|0.24389	0.101000|0.101000	0.19017|0.19017	2.159000|2.159000	0.42339|0.42339	2.284000|2.284000	0.76573|0.76573	0.537000|0.537000	0.68136|0.68136	CAC|CCA		PASS	0.512	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		15	17	15	17	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137244	40137244	+	Missense_Mutation	SNP	C	C	T	rs376385641		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:40137244C>T	ENST00000278198.2	-	2	2562	c.599G>A	c.(598-600)aGg>aAg	p.R200K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R200K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R200K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R200K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	200					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R200K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTCAAATACCTCAAGTTGGA	0.438																																						uc001mxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(598-600)AGG>AAG		netrin-G1 ligand precursor		C	LYS/ARG	0,4406		0,0,2203	94.0	91.0	92.0		599	5.8	1.0	11		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRC4C	NM_020929.1	26	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	200/641	40137244	1,13005	2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137244C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.599G>A	11.37:g.40137244C>T	ENSP00000278198:p.Arg200Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.R196K|LRRC4C_uc001mxd.1_Missense_Mutation_p.R196K|LRRC4C_uc001mxb.1_Missense_Mutation_p.R196K	p.R200K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2563	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	200			LRR 6.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.599G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159107	0.09236	0.0	1.16E-4	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.82	5.82	0.92795	.	0.047369	0.85682	D	0.000000	T	0.76169	0.3950	N	0.03000	-0.44	0.53688	D	0.999972	B	0.06786	0.001	B	0.12156	0.007	T	0.72077	-0.4399	10	0.09338	T	0.73	.	12.4123	0.55473	0.0:0.9237:0.0:0.0763	.	200	Q9HCJ2	LRC4C_HUMAN	K	200	ENSP00000278198:R200K;ENSP00000436976:R200K;ENSP00000437132:R200K;ENSP00000434761:R200K	ENSP00000278198:R200K	R	-	2	0	LRRC4C	40093820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.051000	0.71072	2.754000	0.94517	0.650000	0.86243	AGG		PASS	0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		25	65	25	65	---	---	---	---
ACCS	84680	broad.mit.edu	37	11	44099414	44099414	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:44099414G>T	ENST00000263776.8	+	8	1108	c.674G>T	c.(673-675)cGc>cTc	p.R225L		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	225					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R225L(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTAGACACACGCCCCTTCCAG	0.552																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.(673-675)CGC>CTC		1-aminocyclopropane-1-carboxylate synthase							74.0	62.0	66.0					11																	44099414		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44099414G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.674G>T	11.37:g.44099414G>T	ENSP00000263776:p.Arg225Leu					EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.R225L	p.R225L	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			8	818	+			225					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.674G>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063566	0.76187	.	.	ENSG00000110455	ENST00000263776	D	0.90563	-2.69	5.23	3.37	0.38596	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.115973	0.64402	D	0.000014	D	0.90943	0.7153	M	0.71206	2.165	0.80722	D	1	P	0.35612	0.512	P	0.44860	0.462	D	0.88700	0.3215	10	0.56958	D	0.05	-8.6149	9.4887	0.38946	0.164:0.0:0.836:0.0	.	225	Q96QU6	1A1L1_HUMAN	L	225	ENSP00000263776:R225L	ENSP00000263776:R225L	R	+	2	0	ACCS	44055990	0.998000	0.40836	0.993000	0.49108	0.997000	0.91878	3.484000	0.53201	0.614000	0.30107	0.655000	0.94253	CGC		PASS	0.552	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		18	36	18	36	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48346889	48346889	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:48346889G>A	ENST00000319856.4	+	1	418	c.397G>A	c.(397-399)Gga>Aga	p.G133R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G133R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCATTTTTTGGGAGGTGTTGA	0.473																																						uc010rhv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(397-399)GGA>AGA		olfactory receptor, family 4, subfamily C,							261.0	246.0	251.0					11																	48346889		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346889G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.397G>A	11.37:g.48346889G>A	ENSP00000321419:p.Gly133Arg						p.G133R	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	397	+			106			Helical; Name=3; (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.397G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604014	0.87157	.	.	ENSG00000176547	ENST00000319856	T	0.38722	1.12	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.67795	0.2931	H	0.97291	3.975	0.38151	D	0.938751	P	0.38473	0.633	B	0.43536	0.423	T	0.79720	-0.1685	10	0.72032	D	0.01	.	17.6798	0.88239	0.0:0.0:1.0:0.0	.	106	Q8NH37	OR4C3_HUMAN	R	133	ENSP00000321419:G133R	ENSP00000321419:G133R	G	+	1	0	OR4C3	48303465	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	6.283000	0.72646	2.782000	0.95742	0.478000	0.44815	GGA		PASS	0.473	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		25	340	25	340	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681934	55681934	+	Missense_Mutation	SNP	T	T	A	rs139033114	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:55681934T>A	ENST00000344514.1	-	1	124	c.125A>T	c.(124-126)aAt>aTt	p.N42I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N42I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATTCCAAGATTTGCTGAGAA	0.343																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)AAT>ATT		olfactory receptor, family 5, subfamily W,							76.0	78.0	77.0					11																	55681934		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681934T>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.125A>T	11.37:g.55681934T>A	ENSP00000342448:p.Asn42Ile						p.N42I	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	125	-			42			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.125A>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118643	0.37436	.	.	ENSG00000187612	ENST00000344514	T	0.75704	-0.96	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000951	D	0.90710	0.7085	H	0.98048	4.135	0.33534	D	0.594065	D	0.76494	0.999	D	0.79108	0.992	D	0.95620	0.8680	10	0.87932	D	0	.	12.6788	0.56910	0.0:0.0:0.0:1.0	.	42	Q8NH69	OR5W2_HUMAN	I	42	ENSP00000342448:N42I	ENSP00000342448:N42I	N	-	2	0	OR5W2	55438510	1.000000	0.71417	0.733000	0.30861	0.093000	0.18481	6.524000	0.73791	1.874000	0.54306	0.448000	0.29417	AAT		PASS	0.343	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		20	41	20	41	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927561	55927561	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:55927561C>A	ENST00000313447.1	-	1	232	c.233G>T	c.(232-234)tGt>tTt	p.C78F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C78F(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACCTTGGGACAAATGACAGT	0.378																																						uc010rja.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(232-234)TGT>TTT		olfactory receptor, family 8, subfamily K,							104.0	104.0	104.0					11																	55927561		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927561C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.233G>T	11.37:g.55927561C>A	ENSP00000323853:p.Cys78Phe						p.C78F	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	233	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	78			Extracellular (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.233G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446181	0.25987	.	.	ENSG00000181752	ENST00000313447	T	0.01947	4.54	3.88	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	N	0.04880	-0.145	0.09310	N	1	P	0.37122	0.583	B	0.29785	0.107	T	0.48625	-0.9019	9	0.87932	D	0	.	3.5093	0.07703	0.3394:0.4388:0.0:0.2218	.	78	Q8NH50	OR8K5_HUMAN	F	78	ENSP00000323853:C78F	ENSP00000323853:C78F	C	-	2	0	OR8K5	55684137	0.000000	0.05858	0.393000	0.26258	0.989000	0.77384	-0.475000	0.06599	0.415000	0.25817	0.567000	0.79289	TGT		PASS	0.378	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		33	55	33	55	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58972338	58972338	+	Missense_Mutation	SNP	G	G	C	rs563474440		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:58972338G>C	ENST00000227451.3	+	9	1920	c.1816G>C	c.(1816-1818)Gcc>Ccc	p.A606P	DTX4_ENST00000532982.1_Missense_Mutation_p.A500P	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	606					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A500P(1)|p.A606P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGAACTGGCTGCCCAGGGCAT	0.557																																						uc001nns.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(1816-1818)GCC>CCC		deltex 4 homolog							55.0	56.0	56.0					11																	58972338		2021	4195	6216	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58972338G>C	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1816G>C	11.37:g.58972338G>C	ENSP00000227451:p.Ala606Pro					DTX4_uc001nnr.2_Missense_Mutation_p.A500P	p.A606P	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			9	2073	+		all_epithelial(135;0.125)	606					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1816G>C	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545410	0.86022	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.53640	0.61;0.61	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.91300	3.195	0.58432	D	0.999999	D	0.76494	0.999	D	0.65233	0.933	T	0.78909	-0.2018	10	0.72032	D	0.01	.	14.0283	0.64599	0.0:0.1516:0.8484:0.0	.	606	Q9Y2E6	DTX4_HUMAN	P	500;606	ENSP00000434055:A500P;ENSP00000227451:A606P	ENSP00000227451:A606P	A	+	1	0	DTX4	58728914	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	8.061000	0.89467	2.646000	0.89796	0.591000	0.81541	GCC		PASS	0.557	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		4	11	4	11	---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59626613	59626613	+	Silent	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:59626613A>T	ENST00000257264.3	-	5	788	c.684T>A	c.(682-684)atT>atA	p.I228I	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	228	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.I228I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCAGACAGAATCTTTTCTA	0.408																																						uc001noj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(682-684)ATT>ATA		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						181.0	169.0	173.0					11																	59626613		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59626613A>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.684T>A	11.37:g.59626613A>T							p.I228I	NM_001062	NP_001053	P20061	TCO1_HUMAN			5	782	-		all_epithelial(135;0.198)	228					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.684T>A	CCDS7978.1																																																																																				PASS	0.408	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		47	91	47	91	---	---	---	---
SLC22A6	9356	broad.mit.edu	37	11	62751953	62751953	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:62751953G>C	ENST00000377871.3	-	1	476	c.210C>G	c.(208-210)gaC>gaG	p.D70E	SLC22A6_ENST00000360421.4_Missense_Mutation_p.D70E|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Missense_Mutation_p.D70E|SLC22A6_ENST00000421062.2_Missense_Mutation_p.D70E	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	70					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.D70E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCCCCTGCCTGTCCCGGGGCA	0.662																																						uc001nwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GAC>GAG		solute carrier family 22 member 6 isoform a							40.0	43.0	42.0					11																	62751953		2201	4297	6498	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751953G>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.210C>G	11.37:g.62751953G>C	ENSP00000367102:p.Asp70Glu					SLC22A6_uc001nwl.2_Missense_Mutation_p.D70E|SLC22A6_uc001nwj.2_Missense_Mutation_p.D70E|SLC22A6_uc001nwm.2_Missense_Mutation_p.D70E	p.D70E	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			1	517	-			70			Extracellular (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.210C>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301125	0.40694	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.57	1.61	0.23674	.	0.233852	0.43110	D	0.000616	T	0.47414	0.1444	L	0.46885	1.475	0.34156	D	0.668092	D;D;P;P	0.58620	0.974;0.983;0.955;0.954	P;P;P;P	0.59357	0.786;0.856;0.616;0.786	T	0.58086	-0.7698	10	0.51188	T	0.08	.	8.3527	0.32312	0.2763:0.0:0.7237:0.0	.	70;70;70;70	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	E	70;49;70;70;70	ENSP00000353597:D70E;ENSP00000367102:D70E;ENSP00000396401:D70E;ENSP00000404441:D70E	ENSP00000353597:D70E	D	-	3	2	SLC22A6	62508529	0.202000	0.23423	0.127000	0.21898	0.357000	0.29423	0.367000	0.20382	0.563000	0.29222	0.557000	0.71058	GAC		PASS	0.662	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		34	61	34	61	---	---	---	---
DNAJC4	3338	broad.mit.edu	37	11	63999935	63999935	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:63999935C>A	ENST00000321685.3	+	4	679	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_Intron|DNAJC4_ENST00000321460.5_Missense_Mutation_p.L72M|VEGFB_ENST00000309422.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	72	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)	p.L72M(1)|p.L31M(1)		endometrium(1)|lung(1)|prostate(1)	3						GAACCCAAGCCTGCACAGCCG	0.647																																						uc001nys.2																			2	Substitution - Missense(2)		lung(2)		0						c.(214-216)CTG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 4							36.0	47.0	44.0					11																	63999935		2043	4195	6238	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999935C>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.214C>A	11.37:g.63999935C>A	ENSP00000396896:p.Leu72Met					uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Missense_Mutation_p.L72M|DNAJC4_uc001nyu.2_Missense_Mutation_p.L72M|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank	p.L72M	NM_005528	NP_005519	Q9NNZ3	DNJC4_HUMAN			4	676	+			72			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.214C>A	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704501	0.68615	.	.	ENSG00000110011	ENST00000321685;ENST00000321460	T;T	0.29655	1.56;1.56	4.4	3.48	0.39840	Heat shock protein DnaJ, N-terminal (5);	0.174050	0.39274	N	0.001405	T	0.33294	0.0858	N	0.13098	0.295	0.39468	D	0.967674	D;D	0.65815	0.995;0.988	D;D	0.74023	0.982;0.942	T	0.18524	-1.0334	10	0.52906	T	0.07	-13.5558	8.4812	0.33043	0.0:0.8893:0.0:0.1107	.	72;72	Q6PIN0;Q9NNZ3	.;DNJC4_HUMAN	M	72	ENSP00000396896:L72M;ENSP00000320548:L72M	ENSP00000320548:L72M	L	+	1	2	DNAJC4	63756511	0.993000	0.37304	0.796000	0.32109	0.770000	0.43624	2.844000	0.48246	0.941000	0.37499	0.462000	0.41574	CTG		PASS	0.647	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			12	34	12	34	---	---	---	---
DPF2	5977	broad.mit.edu	37	11	65113462	65113462	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:65113462C>G	ENST00000528416.1	+	8	970	c.837C>G	c.(835-837)gaC>gaG	p.D279E	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.D293E|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	279					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.D279E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GCCTGGGGGACTCAAAGATTA	0.542																																						uc001odm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)GAC>GAG		D4, zinc and double PHD fingers family 2							118.0	122.0	121.0					11																	65113462		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113462C>G	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.837C>G	11.37:g.65113462C>G	ENSP00000436901:p.Asp279Glu					DPF2_uc001odn.2_Missense_Mutation_p.D293E|DPF2_uc010roe.1_Intron	p.D279E	NM_006268	NP_006259	Q92785	REQU_HUMAN			8	849	+			279			PHD-type 1.		A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.837C>G	CCDS8100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.72|18.72	3.684973|3.684973	0.68157|0.68157	.|.	.|.	ENSG00000133884|ENSG00000133884	ENST00000528416;ENST00000252268|ENST00000531989	D;D|D	0.89939|0.90620	-2.56;-2.59|-2.7	5.92|5.92	5.01|5.01	0.66863|0.66863	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.39834|.	N|.	0.001242|.	D|D	0.93949|0.93949	0.8063|0.8063	M|M	0.90369|0.90369	3.11|3.11	0.44635|0.44635	D|D	0.997613|0.997613	P|.	0.51240|.	0.943|.	P|.	0.45232|.	0.474|.	D|D	0.92691|0.92691	0.6166|0.6166	10|7	0.56958|0.12103	D|T	0.05|0.63	-29.7964|-29.7964	13.0544|13.0544	0.58971|0.58971	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	279|.	Q92785|.	REQU_HUMAN|.	E|S	279;293|42	ENSP00000436901:D279E;ENSP00000252268:D293E|ENSP00000435887:T42S	ENSP00000252268:D293E|ENSP00000435887:T42S	D|T	+|+	3|2	2|0	DPF2|DPF2	64870038|64870038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.578000|1.578000	0.36525|0.36525	1.516000|1.516000	0.48900|0.48900	0.561000|0.561000	0.74099|0.74099	GAC|ACT		PASS	0.542	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		67	116	67	116	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65124453	65124453	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:65124453T>C	ENST00000309880.5	+	2	1381	c.1174T>C	c.(1174-1176)Ttt>Ctt	p.F392L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	392						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F392L(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCTGGAGGAGTTTTCCCGCTT	0.597																																						uc001odo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)TTT>CTT		tigger transposable element derived 3							86.0	87.0	86.0					11																	65124453		2201	4297	6498	SO:0001583	missense	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124453T>C		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1174T>C	11.37:g.65124453T>C	ENSP00000308354:p.Phe392Leu						p.F392L	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN			2	1337	+			392						Missense_Mutation	SNP	ENST00000309880.5	37	c.1174T>C	CCDS8101.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785655	0.49997	.	.	ENSG00000173825	ENST00000309880	T	0.17370	2.28	3.83	3.83	0.44106	.	.	.	.	.	T	0.23532	0.0569	L	0.29908	0.895	0.30352	N	0.784664	P	0.52842	0.956	P	0.62184	0.899	T	0.03374	-1.1043	9	0.25106	T	0.35	-8.4382	9.5982	0.39587	0.0:0.0:0.0:1.0	.	392	Q6B0B8	TIGD3_HUMAN	L	392	ENSP00000308354:F392L	ENSP00000308354:F392L	F	+	1	0	TIGD3	64881029	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	2.989000	0.49393	1.706000	0.51276	0.374000	0.22700	TTT		PASS	0.597	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		52	87	52	87	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65838208	65838208	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:65838208C>T	ENST00000320580.4	+	1	284	c.251C>T	c.(250-252)tCc>tTc	p.S84F	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	84	Ser-rich.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.S84F(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCCTCGGGCTCCGCGCCTCCC	0.746																																						uc001oha.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(250-252)TCC>TTC		phosphofurin acidic cluster sorting protein 1							6.0	7.0	7.0					11																	65838208		2100	4127	6227	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838208C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.251C>T	11.37:g.65838208C>T	ENSP00000316454:p.Ser84Phe					PACS1_uc001ogz.1_Missense_Mutation_p.S84F	p.S84F	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			1	385	+			84			Ser-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.251C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763340	0.49574	.	.	ENSG00000175115	ENST00000320580	T	0.21734	1.99	3.62	3.62	0.41486	.	0.895665	0.09387	N	0.809137	T	0.12689	0.0308	N	0.22421	0.69	0.80722	D	1	B;B	0.33135	0.06;0.399	B;B	0.28305	0.017;0.088	T	0.06445	-1.0826	10	0.10111	T	0.7	0.0955	10.685	0.45837	0.0:1.0:0.0:0.0	.	84;84	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	F	84	ENSP00000316454:S84F	ENSP00000316454:S84F	S	+	2	0	PACS1	65594784	0.599000	0.26891	0.997000	0.53966	0.707000	0.40811	1.703000	0.37846	1.883000	0.54544	0.186000	0.17326	TCC		PASS	0.746	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		3	9	3	9	---	---	---	---
NADSYN1	55191	broad.mit.edu	37	11	71166186	71166186	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:71166186G>T	ENST00000319023.2	+	2	304	c.116G>T	c.(115-117)aGa>aTa	p.R39I	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	39	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)	p.R39I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGAGGAGCAAGATACAGGCTT	0.443																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(115-117)AGA>ATA		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						109.0	104.0	106.0					11																	71166186		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71166186G>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.116G>T	11.37:g.71166186G>T	ENSP00000326424:p.Arg39Ile					NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	p.R39I	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			2	242	+			39			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.116G>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242500	0.39598	.	.	ENSG00000172890	ENST00000319023	D	0.86366	-2.11	5.63	1.09	0.20402	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.165617	0.53938	D	0.000047	D	0.86539	0.5957	M	0.66939	2.045	0.58432	D	0.999999	P	0.41232	0.743	P	0.49140	0.601	T	0.82285	-0.0533	10	0.52906	T	0.07	-13.5331	5.378	0.16176	0.2997:0.1517:0.5487:0.0	.	39	Q6IA69	NADE_HUMAN	I	39	ENSP00000326424:R39I	ENSP00000326424:R39I	R	+	2	0	NADSYN1	70843834	1.000000	0.71417	0.856000	0.33681	0.950000	0.60333	1.775000	0.38584	0.316000	0.23135	0.655000	0.94253	AGA		PASS	0.443	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		33	62	33	62	---	---	---	---
PRSS23	11098	broad.mit.edu	37	11	86519529	86519529	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:86519529T>C	ENST00000280258.5	+	2	1269	c.844T>C	c.(844-846)Tat>Cat	p.Y282H	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.Y250H	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	282						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.Y282H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTCTCTGGTTATGACAATGA	0.517																																						uc001pcb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(844-846)TAT>CAT		protease, serine, 23 precursor							84.0	87.0	86.0					11																	86519529		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519529T>C	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.844T>C	11.37:g.86519529T>C	ENSP00000280258:p.Tyr282His					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.Y250H	p.Y282H	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	1060	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	282					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.844T>C	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131557	0.77662	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	D;D	0.89415	-2.51;-2.51	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.054514	0.85682	D	0.000000	D	0.93556	0.7943	M	0.69823	2.125	0.58432	D	0.999992	D;D	0.71674	0.998;0.998	D;D	0.66979	0.948;0.948	D	0.93183	0.6576	9	.	.	.	-16.2166	16.6154	0.84909	0.0:0.0:0.0:1.0	.	250;282	B4E2J3;O95084	.;PRS23_HUMAN	H	282;250	ENSP00000280258:Y282H;ENSP00000393015:Y250H	.	Y	+	1	0	PRSS23	86197177	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	7.600000	0.82769	2.315000	0.78130	0.533000	0.62120	TAT		PASS	0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		44	98	44	98	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104869685	104869685	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:104869685C>T	ENST00000260315.3	-	7	1022	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	CASP5_ENST00000418434.1_Silent_p.E199E|CASP5_ENST00000393141.2_Silent_p.E354E|CASP5_ENST00000444749.2_Silent_p.E283E|CASP5_ENST00000526056.1_Silent_p.E354E|CASP5_ENST00000531367.1_Silent_p.E199E|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	341					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.E354E(1)|p.E325E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCCAGGTTCTCAGATGACT	0.423																																						uc010rva.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)	3						c.(1021-1023)GAG>GAA		caspase 5 isoform a precursor							125.0	114.0	118.0					11																	104869685		2202	4299	6501	SO:0001819	synonymous_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104869685C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1023G>A	11.37:g.104869685C>T						CASP5_uc010ruz.1_Silent_p.E354E|CASP5_uc010rvb.1_Silent_p.E283E|CASP5_uc010rvc.1_Silent_p.E199E|CASP5_uc009yxh.2_Silent_p.E123E|CASP5_uc010rvd.1_Silent_p.E123E	p.E341E	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	7	1055	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	341					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	c.1023G>A	CCDS8328.2																																																																																				PASS	0.423	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		5	119	5	119	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105924321	105924321	+	Silent	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:105924321T>C	ENST00000526793.1	-	3	1254	c.1095A>G	c.(1093-1095)tcA>tcG	p.S365S	KBTBD3_ENST00000531837.1_Silent_p.S365S|KBTBD3_ENST00000534815.1_Silent_p.S286S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	361								p.S365S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CATCATGATATGACTCGGCAA	0.423																																						uc001pja.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1093-1095)TCA>TCG		BTB and kelch domain containing 3							113.0	103.0	106.0					11																	105924321		2201	4298	6499	SO:0001819	synonymous_variant	143879							g.chr11:105924321T>C	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1095A>G	11.37:g.105924321T>C						KBTBD3_uc001pjb.2_Silent_p.S365S|KBTBD3_uc009yxm.2_Silent_p.S286S	p.S365S	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1735	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	361			Kelch 2.		Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	37	c.1095A>G	CCDS8334.1																																																																																				PASS	0.423	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		39	37	39	37	---	---	---	---
C11orf87	399947	broad.mit.edu	37	11	109294504	109294504	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:109294504C>A	ENST00000327419.6	+	2	548	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	49						integral component of membrane (GO:0016021)		p.Q49K(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CTGCATCACGCAGGTGGGACA	0.632																																						uc001pkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(145-147)CAG>AAG		hypothetical protein LOC399947 precursor							128.0	101.0	110.0					11																	109294504		2201	4298	6499	SO:0001583	missense	399947					integral to membrane		g.chr11:109294504C>A	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.145C>A	11.37:g.109294504C>A	ENSP00000331581:p.Gln49Lys					C11orf87_uc010rwb.1_5'Flank	p.Q49K	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN			2	519	+			49			Extracellular (Potential).		B4E169	Missense_Mutation	SNP	ENST00000327419.6	37	c.145C>A	CCDS31672.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194257	0.58017	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.13	4.13	0.48395	.	0.154614	0.28504	U	0.015108	T	0.34308	0.0893	L	0.27053	0.805	0.34905	D	0.746944	P	0.36837	0.571	B	0.36335	0.222	T	0.52358	-0.8586	9	0.51188	T	0.08	.	11.5339	0.50626	0.0:0.8181:0.1819:0.0	.	49	Q6NUJ2	CK087_HUMAN	K	49	.	ENSP00000331581:Q49K	Q	+	1	0	C11orf87	108799714	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.307000	0.77673	0.462000	0.41574	CAG		PASS	0.632	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		14	35	14	35	---	---	---	---
LAYN	143903	broad.mit.edu	37	11	111430955	111430955	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:111430955G>A	ENST00000375615.3	+	8	1106	c.921G>A	c.(919-921)cgG>cgA	p.R307R	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000436913.2_Silent_p.R154R|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.R299R	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	307						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.R299R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	CTGAGACCCGGCCAGACCTGA	0.498																																					Ovarian(17;551 586 12136 22082 22900)	uc001plr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(919-921)CGG>CGA		layilin							79.0	78.0	78.0					11																	111430955		2201	4297	6498	SO:0001819	synonymous_variant	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111430955G>A		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.921G>A	11.37:g.111430955G>A						LAYN_uc001plp.1_Silent_p.R299R|LAYN_uc001plq.1_3'UTR|LAYN_uc001pls.1_3'UTR|LAYN_uc010rwg.1_Silent_p.R154R|LAYN_uc010rwh.1_Silent_p.R155R	p.R307R	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	8	1257	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	307			Cytoplasmic (Potential).		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	c.921G>A	CCDS58178.1																																																																																				PASS	0.498	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		4	104	4	104	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121058628	121058628	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:121058628C>T	ENST00000392793.1	+	21	6358	c.6087C>T	c.(6085-6087)ttC>ttT	p.F2029F	TECTA_ENST00000264037.2_Silent_p.F2029F			O75443	TECTA_HUMAN	tectorin alpha	2029	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F2029F(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTTTAAATTCATAGGGGATT	0.438																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(6085-6087)TTC>TTT		tectorin alpha precursor							175.0	150.0	159.0					11																	121058628		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121058628C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6087C>T	11.37:g.121058628C>T							p.F2029F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	20	6087	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	2029			ZP.			Silent	SNP	ENST00000392793.1	37	c.6087C>T	CCDS8434.1																																																																																				PASS	0.438	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		41	75	41	75	---	---	---	---
SC5D	6309	broad.mit.edu	37	11	121175181	121175181	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:121175181G>C	ENST00000392789.2	+	3	559	c.322G>C	c.(322-324)Gac>Cac	p.D108H	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000534230.1_Missense_Mutation_p.D108H|SC5D_ENST00000264027.4_Missense_Mutation_p.D108H	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	108					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.D108H(1)									ATTACATGATGACCTAGGAGA	0.393																																						uc001pxu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)GAC>CAC		sterol-C5-desaturase							114.0	113.0	114.0					11																	121175181		2203	4299	6502	SO:0001583	missense	6309				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity	g.chr11:121175181G>C		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.322G>C	11.37:g.121175181G>C	ENSP00000376539:p.Asp108His					SC5DL_uc001pxs.1_3'UTR|SC5DL_uc001pxt.2_Missense_Mutation_p.D108H|SC5DL_uc001pxv.2_Missense_Mutation_p.D108H	p.D108H	NM_006918	NP_008849	O75845	SC5D_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	3	470	+		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	108					O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	c.322G>C	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139782	0.09083	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.86865	-1.78;-1.8;-2.18;-1.78	6.07	-2.55	0.06288	.	0.495347	0.26359	N	0.024838	T	0.76054	0.3934	L	0.39397	1.21	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.15870	0.014;0.003	T	0.62124	-0.6920	10	0.37606	T	0.19	-0.1938	6.0712	0.19891	0.4186:0.2278:0.3536:0.0	.	108;108	O75845;E9PQ91	SC5D_HUMAN;.	H	108;115;108;108	ENSP00000264027:D108H;ENSP00000436290:D115H;ENSP00000432550:D108H;ENSP00000376539:D108H	ENSP00000264027:D108H	D	+	1	0	SC5DL	120680391	0.996000	0.38824	0.000000	0.03702	0.064000	0.16182	2.786000	0.47790	-0.047000	0.13423	-0.136000	0.14681	GAC		PASS	0.393	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		33	51	33	51	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909601	123909601	+	Silent	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:123909601A>G	ENST00000330487.5	-	1	116	c.108T>C	c.(106-108)acT>acC	p.T36T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T36T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCCCAGCACAGTGAGCACGT	0.577																																						uc001pzq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(106-108)ACT>ACC		olfactory receptor, family 10, subfamily G,							66.0	62.0	64.0					11																	123909601		2200	4293	6493	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909601A>G	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.108T>C	11.37:g.123909601A>G							p.T36T	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	108	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	36			Helical; Name=1; (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.108T>C	CCDS31705.1																																																																																				PASS	0.577	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		24	94	24	94	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130343465	130343465	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:130343465G>T	ENST00000299164.2	+	8	2602	c.2602G>T	c.(2602-2604)Ggc>Tgc	p.G868C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	868	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G868C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGACTGCCGGGGCTCCGCCGG	0.756																																						uc010scd.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2602-2604)GGC>TGC		a disintegrin-like and metalloprotease							12.0	16.0	14.0					11																	130343465		2171	4229	6400	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343465G>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2602G>T	11.37:g.130343465G>T	ENSP00000299164:p.Gly868Cys						p.G868C	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2602	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	868			TSP type-1 2.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2602G>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221164	0.39201	.	.	ENSG00000166106	ENST00000299164	T	0.55234	0.53	5.78	3.82	0.43975	.	.	.	.	.	T	0.60209	0.2251	L	0.59436	1.845	0.09310	N	1	P	0.45474	0.859	P	0.52309	0.695	T	0.52540	-0.8562	9	0.66056	D	0.02	.	11.1444	0.48422	0.0691:0.1284:0.8026:0.0	.	868	Q8TE58	ATS15_HUMAN	C	868	ENSP00000299164:G868C	ENSP00000299164:G868C	G	+	1	0	ADAMTS15	129848675	0.027000	0.19231	0.004000	0.12327	0.281000	0.26958	1.949000	0.40313	1.465000	0.48006	0.563000	0.77884	GGC		PASS	0.756	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		26	20	26	20	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134038875	134038875	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:134038875C>A	ENST00000534548.2	-	25	3240	c.3176G>T	c.(3175-3177)tGt>tTt	p.C1059F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1059					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.C1059F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTGAAAAATACATTCAATGAA	0.443																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3175-3177)TGT>TTT		non-SMC condensin II complex, subunit D3							104.0	98.0	100.0					11																	134038875		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134038875C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3176G>T	11.37:g.134038875C>A	ENSP00000433681:p.Cys1059Phe					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.C9F	p.C1059F	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	25	3782	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1059					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3176G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780797	0.90195	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.44881	0.91;0.91	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (1);	0.038433	0.85682	D	0.000000	T	0.70202	0.3197	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	T	0.73075	-0.4097	10	0.87932	D	0	-14.4506	20.1278	0.97990	0.0:1.0:0.0:0.0	.	1059;119	P42695;Q96FA6	CNDD3_HUMAN;.	F	1059;95	ENSP00000433681:C1059F;ENSP00000435173:C95F	ENSP00000435173:C95F	C	-	2	0	NCAPD3	133544085	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	7.752000	0.85141	2.768000	0.95171	0.561000	0.74099	TGT		PASS	0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		3	64	3	64	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134093809	134093809	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:134093809C>A	ENST00000534548.2	-	1	76	c.12G>T	c.(10-12)ttG>ttT	p.L4F	NCAPD3_ENST00000526422.1_Missense_Mutation_p.L4F|VPS26B_ENST00000525095.2_5'Flank|VPS26B_ENST00000281187.5_5'Flank	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	4					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.L4F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAAGGCCCCGCAACGCCACCA	0.687																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(10-12)TTG>TTT		non-SMC condensin II complex, subunit D3							23.0	25.0	24.0					11																	134093809		2194	4291	6485	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134093809C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.12G>T	11.37:g.134093809C>A	ENSP00000433681:p.Leu4Phe					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|VPS26B_uc001qhe.2_5'Flank	p.L4F	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	1	618	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	4					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.12G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477424	0.63849	.	.	ENSG00000151503	ENST00000534548;ENST00000525485;ENST00000534227;ENST00000526422;ENST00000532445	T;T;T;T	0.49720	1.59;0.77;0.77;0.77	5.53	1.06	0.20224	.	0.846690	0.09966	N	0.732738	T	0.31888	0.0811	L	0.36672	1.1	0.09310	N	1	P	0.36616	0.561	B	0.34242	0.178	T	0.16719	-1.0393	10	0.33940	T	0.23	-1.9166	4.2101	0.10507	0.0:0.5143:0.1732:0.3125	.	4	P42695	CNDD3_HUMAN	F	4	ENSP00000433681:L4F;ENSP00000431436:L4F;ENSP00000435586:L4F;ENSP00000435655:L4F	ENSP00000436037:L4F	L	-	3	2	NCAPD3	133599019	0.005000	0.15991	0.222000	0.23844	0.664000	0.39144	0.027000	0.13621	0.514000	0.28300	0.650000	0.86243	TTG		PASS	0.687	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		4	39	4	39	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22623838	22623838	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:22623838A>T	ENST00000333957.4	-	21	2621	c.2366T>A	c.(2365-2367)gTc>gAc	p.V789D	C2CD5_ENST00000545552.1_Missense_Mutation_p.V802D|C2CD5_ENST00000536386.1_Missense_Mutation_p.V791D|C2CD5_ENST00000542676.1_Missense_Mutation_p.V789D|C2CD5_ENST00000446597.1_Missense_Mutation_p.V789D|C2CD5_ENST00000544930.1_Missense_Mutation_p.V604D|C2CD5_ENST00000396028.2_Missense_Mutation_p.V780D	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	789					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.V604D(1)|p.V789D(1)									GACTGCCGTGACTGTAACCTA	0.343																																						uc001rfq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2365-2367)GTC>GAC		hypothetical protein LOC9847							117.0	111.0	113.0					12																	22623838		2203	4298	6501	SO:0001583	missense	9847						protein binding	g.chr12:22623838A>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2366T>A	12.37:g.22623838A>T	ENSP00000334229:p.Val789Asp					KIAA0528_uc010sir.1_Missense_Mutation_p.V604D|KIAA0528_uc010sis.1_Missense_Mutation_p.V789D|KIAA0528_uc010sit.1_Missense_Mutation_p.V791D|KIAA0528_uc010siu.1_Missense_Mutation_p.V789D|KIAA0528_uc001rfr.2_Missense_Mutation_p.V780D	p.V789D	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			21	2594	-			789					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2366T>A	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.408318|4.408318	0.83340|0.83340	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000539615|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T	.|0.70399	.|-0.38;-0.4;-0.42;-0.42;-0.4;-0.48	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.76608|0.76608	0.4011|0.4011	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;B;P;P;D	.|0.60575	.|0.889;0.342;0.919;0.888;0.988	.|P;B;P;P;P	.|0.53912	.|0.718;0.319;0.576;0.474;0.737	T|T	0.80013|0.80013	-0.1560|-0.1560	5|10	.|0.87932	.|D	.|0	-15.4275|-15.4275	13.3832|13.3832	0.60780|0.60780	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|791;789;604;780;789	.|F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.|.;.;.;.;K0528_HUMAN	T|D	73|789;789;791;780;789;802;604	.|ENSP00000334229:V789D;ENSP00000388756:V789D;ENSP00000439392:V791D;ENSP00000379345:V780D;ENSP00000441951:V789D;ENSP00000443204:V802D	.|ENSP00000334229:V789D	S|V	-|-	1|2	0|0	KIAA0528|KIAA0528	22515105|22515105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	7.534000|7.534000	0.82004|0.82004	2.096000|2.096000	0.63516|0.63516	0.472000|0.472000	0.43445|0.43445	TCA|GTC		PASS	0.343	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		28	45	28	45	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29631832	29631832	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:29631832C>A	ENST00000318184.5	-	9	1004	c.1005G>T	c.(1003-1005)atG>atT	p.M335I	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	335	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.M335I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTTGCTTTTCCATGTCTAAAC	0.313																																						uc001rix.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1003-1005)ATG>ATT		ovochymase 1 precursor							104.0	96.0	99.0					12																	29631832		1833	4081	5914	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29631832C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1005G>T	12.37:g.29631832C>A	ENSP00000326708:p.Met335Ile						p.M335I	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			9	1005	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		335			CUB 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1005G>T		.	.	.	.	.	.	.	.	.	.	C	0.001	-3.038765	0.00039	.	.	ENSG00000187950	ENST00000318184	T	0.17854	2.25	2.95	0.526	0.17078	CUB (3);	.	.	.	.	T	0.05777	0.0151	N	0.01874	-0.695	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40942	-0.9536	9	0.27082	T	0.32	.	6.8923	0.24236	0.0:0.209:0.0:0.791	.	335	Q7RTY7	OVCH1_HUMAN	I	335	ENSP00000326708:M335I	ENSP00000326708:M335I	M	-	3	0	OVCH1	29523099	0.814000	0.29104	0.063000	0.19743	0.104000	0.19210	0.880000	0.28159	0.085000	0.17107	-0.768000	0.03414	ATG		PASS	0.313	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		11	26	11	26	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39760235	39760235	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:39760235C>G	ENST00000361418.5	-	6	835	c.820G>C	c.(820-822)Gat>Cat	p.D274H	KIF21A_ENST00000361961.3_Missense_Mutation_p.D274H|KIF21A_ENST00000544797.2_Missense_Mutation_p.D274H|KIF21A_ENST00000541463.2_Missense_Mutation_p.D274H|KIF21A_ENST00000395670.3_Missense_Mutation_p.D274H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	274	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D274H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCTGCGAGATCAACAAAATGG	0.383																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(820-822)GAT>CAT		kinesin family member 21A							101.0	100.0	100.0					12																	39760235		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760235C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.820G>C	12.37:g.39760235C>G	ENSP00000354878:p.Asp274His					KIF21A_uc001rlx.2_Missense_Mutation_p.D274H|KIF21A_uc001rlz.2_Missense_Mutation_p.D274H|KIF21A_uc010skl.1_Missense_Mutation_p.D274H|KIF21A_uc001rma.1_Missense_Mutation_p.D282H	p.D274H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			6	966	-		Lung NSC(34;0.179)|all_lung(34;0.213)	274			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.820G>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684515	0.88639	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.94	4.94	0.65067	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.53938	D	0.000059	D	0.98071	0.9364	H	0.97214	3.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	.	18.1818	0.89780	0.0:1.0:0.0:0.0	.	274;274;274;274;274	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	H	274;274;274;274;274;274;97	ENSP00000354851:D274H;ENSP00000379029:D274H;ENSP00000445606:D274H;ENSP00000354878:D274H;ENSP00000438075:D274H;ENSP00000449700:D97H	ENSP00000344501:D274H	D	-	1	0	KIF21A	38046502	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.332000	0.79203	2.295000	0.77249	0.655000	0.94253	GAT		PASS	0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		42	44	42	44	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40734125	40734125	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:40734125G>T	ENST00000298910.7	+	41	6036	c.5978G>T	c.(5977-5979)cGa>cTa	p.R1993L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1993	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1993L(1)|p.R2000L(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTATATACCGAGACCTGAAA	0.398																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5977-5979)CGA>CTA		leucine-rich repeat kinase 2							216.0	197.0	203.0					12																	40734125		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40734125G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5978G>T	12.37:g.40734125G>T	ENSP00000298910:p.Arg1993Leu					LRRK2_uc009zjw.2_Missense_Mutation_p.R831L|LRRK2_uc001rmi.2_Missense_Mutation_p.R826L	p.R1993L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			41	6099	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1993			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5978G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964229	0.92791	.	.	ENSG00000188906	ENST00000298910	D	0.96554	-4.05	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.995;0.997	D	0.98383	1.0559	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	1993;1993	Q17RV3;Q5S007	.;LRRK2_HUMAN	L	1993	ENSP00000298910:R1993L	ENSP00000298910:R1993L	R	+	2	0	LRRK2	39020392	1.000000	0.71417	0.979000	0.43373	0.845000	0.48019	9.527000	0.98044	2.631000	0.89168	0.585000	0.79938	CGA		PASS	0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		50	127	50	127	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43826243	43826243	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:43826243C>A	ENST00000389420.3	-	21	2959	c.2960G>T	c.(2959-2961)aGg>aTg	p.R987M	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R141M|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R987M	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	987	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R987M(1)|p.R987L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCGAGACCTTTCCCCTCC	0.363																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2959-2961)AGG>ATG		a disintegrin-like and metalloprotease with							103.0	104.0	104.0					12																	43826243		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826243C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2960G>T	12.37:g.43826243C>A	ENSP00000374071:p.Arg987Met					ADAMTS20_uc001rno.1_Missense_Mutation_p.R141M|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R141M	p.R987M	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	2960	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	987			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2960G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026324	0.54683	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.89	3.03	0.35002	.	0.135863	0.37178	N	0.002216	T	0.63850	0.2546	L	0.57130	1.785	0.39207	D	0.963257	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.956	T	0.65668	-0.6112	10	0.87932	D	0	.	8.0602	0.30629	0.0:0.6825:0.0:0.3175	.	987;141	P59510;E9PBD5	ATS20_HUMAN;.	M	987;153;141;987;987	ENSP00000374071:R987M;ENSP00000447427:R153M;ENSP00000378911:R141M;ENSP00000448341:R987M	ENSP00000374068:R987M	R	-	2	0	ADAMTS20	42112510	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.498000	0.35660	0.701000	0.31803	0.655000	0.94253	AGG		PASS	0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		36	69	36	69	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434903	49434903	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:49434903C>T	ENST00000301067.7	-	31	6649	c.6650G>A	c.(6649-6651)cGt>cAt	p.R2217H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2217	Pro-rich.				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.R2217H(1)|p.R1947H(1)									AGCCCCAGGACGAGATGAGGC	0.701																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6649-6651)CGT>CAT		myeloid/lymphoid or mixed-lineage leukemia 2							23.0	26.0	25.0					12																	49434903		1878	4099	5977	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.chr12:49434903C>T	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.6650G>A	12.37:g.49434903C>T	ENSP00000301067:p.Arg2217His	HNSCC(34;0.089)					p.R2217H	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6650	-			2217			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6650G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997853	0.19043	.	.	ENSG00000167548	ENST00000301067	T	0.80738	-1.41	4.54	3.64	0.41730	.	0.000000	0.34338	N	0.004054	T	0.58104	0.2099	N	0.08118	0	0.23628	N	0.997255	B	0.22146	0.065	B	0.09377	0.004	T	0.50276	-0.8847	10	0.87932	D	0	.	4.999	0.14255	0.0:0.7229:0.0:0.2771	.	2217	O14686	MLL2_HUMAN	H	2217	ENSP00000301067:R2217H	ENSP00000301067:R2217H	R	-	2	0	MLL2	47721170	0.169000	0.23002	0.998000	0.56505	0.900000	0.52787	0.607000	0.24209	2.466000	0.83321	0.561000	0.74099	CGT		PASS	0.701	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	23	24	23	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51121588	51121588	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:51121588G>C	ENST00000301180.5	+	29	3537	c.3503G>C	c.(3502-3504)gGa>gCa	p.G1168A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1168						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G1168A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATGCTTACAGGAGTGAAGGTA	0.458																																						uc001rwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(3502-3504)GGA>GCA		DIP2 disco-interacting protein 2 homolog B							145.0	138.0	140.0					12																	51121588		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51121588G>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3503G>C	12.37:g.51121588G>C	ENSP00000301180:p.Gly1168Ala					DIP2B_uc009zlt.2_Missense_Mutation_p.G598A	p.G1168A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			29	3659	+			1168					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3503G>C	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743167	0.89663	.	.	ENSG00000066084	ENST00000301180	T	0.58940	0.3	4.27	4.27	0.50696	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76408	-0.2970	10	0.49607	T	0.09	-12.5178	18.006	0.89209	0.0:0.0:1.0:0.0	.	1168	Q9P265	DIP2B_HUMAN	A	1168	ENSP00000301180:G1168A	ENSP00000301180:G1168A	G	+	2	0	DIP2B	49407855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.668000	0.90789	0.655000	0.94253	GGA		PASS	0.458	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		75	114	75	114	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53663320	53663320	+	Silent	SNP	G	G	T	rs147703740		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:53663320G>T	ENST00000257934.4	+	3	685	c.594G>T	c.(592-594)gcG>gcT	p.A198A	ESPL1_ENST00000552462.1_Silent_p.A198A	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	198					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.A198A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGTCGAGCGGTAGCTGCCC	0.522																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(592-594)GCG>GCT		separase							237.0	241.0	239.0					12																	53663320		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663320G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.594G>T	12.37:g.53663320G>T						ESPL1_uc001scj.2_5'UTR	p.A198A	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			3	685	+			198						Silent	SNP	ENST00000257934.4	37	c.594G>T	CCDS8852.1																																																																																				PASS	0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		153	274	153	274	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819263	53819263	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:53819263G>C	ENST00000257863.4	+	5	607	c.527G>C	c.(526-528)aGa>aCa	p.R176T	AMHR2_ENST00000379791.3_Missense_Mutation_p.R176T|AMHR2_ENST00000550311.1_Missense_Mutation_p.R176T	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	176					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.R176T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AAGAACTACAGAGTGCGAGGT	0.582																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)AGA>ACA		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						76.0	78.0	78.0					12																	53819263		2203	4300	6503	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819263G>C	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.527G>C	12.37:g.53819263G>C	ENSP00000257863:p.Arg176Thr					AMHR2_uc009zmy.1_Missense_Mutation_p.R176T	p.R176T	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			5	605	+			176			Cytoplasmic (Potential).		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.527G>C	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832389	0.16820	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.94092	-3.35;-3.35;-3.33	4.72	3.83	0.44106	Protein kinase-like domain (1);	0.185805	0.26442	N	0.024344	D	0.87067	0.6085	L	0.29908	0.895	0.09310	N	1	B;B	0.22414	0.069;0.012	B;B	0.18871	0.022;0.023	T	0.73933	-0.3826	10	0.21540	T	0.41	.	11.1857	0.48655	0.0:0.1852:0.8148:0.0	.	176;176	F8W1D2;Q16671	.;AMHR2_HUMAN	T	176	ENSP00000257863:R176T;ENSP00000446661:R176T;ENSP00000369117:R176T	ENSP00000257863:R176T	R	+	2	0	AMHR2	52105530	0.887000	0.30362	0.011000	0.14972	0.037000	0.13140	2.048000	0.41278	1.361000	0.45981	0.655000	0.94253	AGA		PASS	0.582	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		33	74	33	74	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62708619	62708619	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:62708619C>G	ENST00000280377.5	+	4	455	c.397C>G	c.(397-399)Ctc>Gtc	p.L133V	USP15_ENST00000353364.3_Missense_Mutation_p.L133V|USP15_ENST00000312635.6_Missense_Mutation_p.L133V|USP15_ENST00000393654.3_Missense_Mutation_p.L133V|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	133					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L133V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGAAGTATATCTCACAGAATT	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(397-399)CTC>GTC		ubiquitin specific peptidase 15							234.0	253.0	247.0					12																	62708619		2203	4298	6501	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62708619C>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.397C>G	12.37:g.62708619C>G	ENSP00000280377:p.Leu133Val					USP15_uc001srb.1_Missense_Mutation_p.L133V|USP15_uc001sra.2_Missense_Mutation_p.L133V	p.L133V	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	4	406	+			133					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.397C>G	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.91|15.91	2.973347|2.973347	0.53614|0.53614	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000549237|ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836;ENST00000546694	.|T;T;T	.|0.19806	.|2.12;2.14;2.12	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.37758|0.37758	0.1015|0.1015	M|M	0.62723|0.62723	1.935|1.935	0.50039|0.50039	D|D	0.999841|0.999841	.|P;D;P	.|0.59357	.|0.933;0.985;0.873	.|P;P;P	.|0.62184	.|0.706;0.899;0.563	T|T	0.05099|0.05099	-1.0906|-1.0906	5|9	.|.	.|.	.|.	-5.503|-5.503	10.1215|10.1215	0.42623|0.42623	0.0:0.8514:0.0:0.1486|0.0:0.8514:0.0:0.1486	.|.	.|133;133;133	.|Q9Y4E8;Q9Y4E8-2;Q9H8G9	.|UBP15_HUMAN;.;.	M|V	128|133;141;133;133;133;79;12	.|ENSP00000258123:L133V;ENSP00000280377:L133V;ENSP00000377264:L133V	.|.	I|L	+|+	3|1	3|0	USP15|USP15	60994886|60994886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.315000|3.315000	0.51951|0.51951	2.619000|2.619000	0.88677|0.88677	0.557000|0.557000	0.71058|0.71058	ATC|CTC		PASS	0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		176	292	176	292	---	---	---	---
PPP1R12A	4659	broad.mit.edu	37	12	80203635	80203635	+	Silent	SNP	T	T	A	rs369036685		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:80203635T>A	ENST00000450142.2	-	10	1661	c.1395A>T	c.(1393-1395)gcA>gcT	p.A465A	PPP1R12A_ENST00000437004.2_Silent_p.A465A|PPP1R12A_ENST00000550107.1_Silent_p.A465A|PPP1R12A_ENST00000546369.1_Silent_p.A378A|PPP1R12A_ENST00000261207.5_Silent_p.A465A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	465					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.A465A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GTGTAACACCTGCAGTATCTT	0.413																																						uc001syz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1393-1395)GCA>GCT		protein phosphatase 1, regulatory (inhibitor)							155.0	151.0	152.0					12																	80203635		1878	4111	5989	SO:0001819	synonymous_variant	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80203635T>A	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1395A>T	12.37:g.80203635T>A						PPP1R12A_uc010suc.1_Silent_p.A378A|PPP1R12A_uc001sza.2_Silent_p.A465A|PPP1R12A_uc010sud.1_Silent_p.A465A|PPP1R12A_uc001szb.2_Silent_p.A465A|PPP1R12A_uc001szc.2_Silent_p.A465A	p.A465A	NM_002480	NP_002471	O14974	MYPT1_HUMAN			10	1662	-			465					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	c.1395A>T	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	T	8.331	0.826472	0.16749	.	.	ENSG00000058272	ENST00000553081	.	.	.	5.64	0.471	0.16752	.	.	.	.	.	T	0.45094	0.1325	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	.	3.6343	0.08143	0.2487:0.2058:0.0:0.5455	.	.	.	.	L	69	.	.	Q	-	2	0	PPP1R12A	78727766	0.993000	0.37304	0.997000	0.53966	0.803000	0.45373	0.132000	0.15891	-0.143000	0.11334	-0.350000	0.07774	CAG		PASS	0.413	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		14	36	14	36	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82824688	82824688	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:82824688G>T	ENST00000248306.3	+	6	1365	c.1296G>T	c.(1294-1296)aaG>aaT	p.K432N	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	432							methyltransferase activity (GO:0008168)	p.K432N(1)									CTCAGGAAAAGTGGGGATTTC	0.353																																						uc001szq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)AAG>AAT		hypothetical protein LOC84190							209.0	194.0	199.0					12																	82824688		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82824688G>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1296G>T	12.37:g.82824688G>T	ENSP00000248306:p.Lys432Asn						p.K432N	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN			6	1317	+			432					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.1296G>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	G	8.239	0.806477	0.16467	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	T	0.31247	1.5	5.67	0.577	0.17385	.	0.605838	0.18854	N	0.129332	T	0.13628	0.0330	N	0.12182	0.205	0.21256	N	0.999748	B	0.06786	0.001	B	0.06405	0.002	T	0.30208	-0.9986	10	0.16420	T	0.52	-2.5048	7.6274	0.28220	0.2549:0.4312:0.3139:0.0	.	432	Q8N6Q8	CL026_HUMAN	N	432;67	ENSP00000248306:K432N	ENSP00000248306:K432N	K	+	3	2	C12orf26	81348819	0.999000	0.42202	0.987000	0.45799	0.996000	0.88848	0.505000	0.22642	-0.085000	0.12573	0.585000	0.79938	AAG		PASS	0.353	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		68	95	68	95	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94543741	94543741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:94543741A>T	ENST00000258526.4	+	1	1243	c.994A>T	c.(994-996)Aga>Tga	p.R332*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	332	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R332*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGCCTCTTCAGAATGAGTGA	0.701																																						uc001tdc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(994-996)AGA>TGA		plexin C1 precursor							5.0	6.0	6.0					12																	94543741		1958	3987	5945	SO:0001587	stop_gained	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94543741A>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.994A>T	12.37:g.94543741A>T	ENSP00000258526:p.Arg332*						p.R332*	NM_005761	NP_005752	O60486	PLXC1_HUMAN			1	1243	+			332			Extracellular (Potential).|Sema.		Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.994A>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	40	8.489992	0.98834	.	.	ENSG00000136040	ENST00000258526	.	.	.	4.98	2.32	0.28847	.	0.317478	0.30704	N	0.009060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.0799	0.19935	0.2984:0.5335:0.1681:0.0	.	.	.	.	X	332	.	ENSP00000258526:R332X	R	+	1	2	PLXNC1	93067872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.174000	0.31932	0.809000	0.34255	0.459000	0.35465	AGA		PASS	0.701	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			7	14	7	14	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101413845	101413845	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:101413845C>G	ENST00000392977.3	+	9	978	c.768C>G	c.(766-768)aaC>aaG	p.N256K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.N221K			Q32M45	ANO4_HUMAN	anoctamin 4	256					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)	p.N221K(1)		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						CGTTCTTCAACAATGCCACAA	0.294										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(766-768)AAC>AAG		anoctamin 4							86.0	85.0	85.0					12																	101413845		2203	4299	6502	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101413845C>G	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.768C>G	12.37:g.101413845C>G	ENSP00000376703:p.Asn256Lys	HNSCC(74;0.22)				ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.N221K|ANO4_uc001thx.2_Missense_Mutation_p.N256K	p.N256K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			9	1340	+			256			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.768C>G		.	.	.	.	.	.	.	.	.	.	C	16.61	3.170300	0.57584	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.70986	-0.53;-0.53	5.78	4.89	0.63831	.	0.053970	0.64402	D	0.000001	T	0.63224	0.2493	L	0.38175	1.15	0.80722	D	1	B;B	0.31625	0.227;0.332	B;B	0.33620	0.055;0.167	T	0.63967	-0.6517	10	0.52906	T	0.07	.	13.8144	0.63283	0.0:0.9253:0.0:0.0747	.	256;221	Q32M45;Q32M45-2	ANO4_HUMAN;.	K	221;256	ENSP00000376705:N221K;ENSP00000376703:N256K	ENSP00000376703:N256K	N	+	3	2	ANO4	99937976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.256000	0.58810	1.441000	0.47550	0.650000	0.86243	AAC		PASS	0.294	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		23	55	23	55	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101442178	101442178	+	Splice_Site	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:101442178G>C	ENST00000392977.3	+	14	1521	c.1311G>C	c.(1309-1311)tgG>tgC	p.W437C	ANO4_ENST00000299222.9_Splice_Site_p.W4C|ANO4_ENST00000550015.1_Splice_Site_p.W4C|ANO4_ENST00000392979.3_Splice_Site_p.W402C			Q32M45	ANO4_HUMAN	anoctamin 4	437					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)	p.W402C(1)		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						TGGCAGTCTGGGGTAAGTGTT	0.373										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1309-1311)TGG>TGC		anoctamin 4							126.0	125.0	125.0					12																	101442178		2203	4300	6503	SO:0001630	splice_region_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101442178G>C	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.1312+1G>C	12.37:g.101442178G>C		HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.W402C|ANO4_uc001thx.2_Missense_Mutation_p.W437C|ANO4_uc001thy.2_Missense_Mutation_p.W4C	p.W437C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			14	1883	+			437			Helical; (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1311G>C		.	.	.	.	.	.	.	.	.	.	G	21.4	4.145205	0.77888	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.946;0.997;0.991	D	0.94026	0.7297	10	0.87932	D	0	.	19.438	0.94806	0.0:0.0:1.0:0.0	.	4;437;402	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	402;4;437;4	ENSP00000376705:W402C;ENSP00000299222:W4C;ENSP00000376703:W437C;ENSP00000450192:W4C	ENSP00000299222:W4C	W	+	3	0	ANO4	99966309	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.813000	0.99286	2.675000	0.91044	0.555000	0.69702	TGG		PASS	0.373	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	Missense_Mutation	25	48	25	48	---	---	---	---
PAH	5053	broad.mit.edu	37	12	103246696	103246696	+	Missense_Mutation	SNP	C	C	T	rs62508731		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:103246696C>T	ENST00000553106.1	-	7	1211	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Missense_Mutation_p.G242S	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	247			G -> V (in PKU; haplotype 4).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.G247S(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAAAGCAGGCCAGCCACAGGT	0.532																																						uc001tjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4	GRCh37	CM043313|CM043315	PAH	M	rs62508731	c.(739-741)GGC>AGC		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						72.0	80.0	77.0					12																	103246696		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246696C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.739G>A	12.37:g.103246696C>T	ENSP00000448059:p.Gly247Ser						p.G247S	NM_000277	NP_000268	P00439	PH4H_HUMAN			8	1211	-			247		G -> V (in PKU; haplotype 4).			Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.739G>A	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	36	5.912587	0.97099	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99828	-6.99;-6.99	5.92	5.92	0.95590	Aromatic amino acid hydroxylase, C-terminal (4);	0.045450	0.85682	D	0.000000	D	0.99917	0.9961	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96300	0.9220	10	0.87932	D	0	-23.003	20.3167	0.98654	0.0:1.0:0.0:0.0	rs62508731	247	P00439	PH4H_HUMAN	S	247;242	ENSP00000448059:G247S;ENSP00000303500:G242S	ENSP00000303500:G242S	G	-	1	0	PAH	101770826	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.809000	0.96659	0.557000	0.71058	GGC		PASS	0.532	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			20	55	20	55	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116429247	116429247	+	Missense_Mutation	SNP	T	T	G	rs147863200	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:116429247T>G	ENST00000281928.3	-	17	3718	c.3512A>C	c.(3511-3513)aAa>aCa	p.K1171T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1171						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K1171T(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTAGCCAAGTTTGCGGTTCAT	0.463																																						uc001tvw.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3511-3513)AAA>ACA		mediator complex subunit 13-like							81.0	74.0	76.0					12																	116429247		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116429247T>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3512A>C	12.37:g.116429247T>G	ENSP00000281928:p.Lys1171Thr						p.K1171T	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	17	3567	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1171					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.3512A>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453387	0.43531	.	.	ENSG00000123066	ENST00000281928	T	0.75260	-0.92	5.35	4.17	0.49024	.	0.371729	0.28760	N	0.014240	T	0.59059	0.2166	L	0.27053	0.805	0.38565	D	0.949813	B	0.30482	0.281	B	0.26969	0.075	T	0.60530	-0.7245	10	0.56958	D	0.05	.	8.7501	0.34611	0.0:0.1471:0.0:0.8529	.	1171	Q71F56	MD13L_HUMAN	T	1171	ENSP00000281928:K1171T	ENSP00000281928:K1171T	K	-	2	0	MED13L	114913630	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.394000	0.44450	1.008000	0.39264	0.477000	0.44152	AAA		PASS	0.463	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			26	62	26	62	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124172644	124172644	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:124172644G>T	ENST00000303372.5	+	7	939	c.811G>T	c.(811-813)Gca>Tca	p.A271S	TCTN2_ENST00000426174.2_Missense_Mutation_p.A270S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	271					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.A271S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGATACTGACGCAAAAGACTT	0.363																																						uc001ufp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)GCA>TCA		tectonic family member 2 isoform 1							133.0	137.0	136.0					12																	124172644		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124172644G>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.811G>T	12.37:g.124172644G>T	ENSP00000304941:p.Ala271Ser					TCTN2_uc009zya.2_Missense_Mutation_p.A270S	p.A271S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	7	939	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		271			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.811G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	g	7.614	0.675436	0.14841	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82526	-1.62;-1.62	5.6	-2.53	0.06326	Domain of unknown function DUF1619 (1);	1.970240	0.02733	N	0.115293	T	0.67088	0.2856	N	0.14661	0.345	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.17098	0.017;0.017	T	0.53592	-0.8417	10	0.16896	T	0.51	-38.2319	6.1639	0.20380	0.0936:0.3767:0.4019:0.1279	.	270;271	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	270;271	ENSP00000395171:A270S;ENSP00000304941:A271S	ENSP00000304941:A271S	A	+	1	0	TCTN2	122738597	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.312000	0.19397	-0.157000	0.11059	-0.165000	0.13383	GCA		PASS	0.363	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		52	146	52	146	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131569199	131569199	+	Silent	SNP	C	C	G	rs368210843		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:131569199C>G	ENST00000261654.5	+	15	2221	c.1662C>G	c.(1660-1662)gtC>gtG	p.V554V	GPR133_ENST00000543617.1_Silent_p.V73V|GPR133_ENST00000376682.4_Silent_p.V240V|GPR133_ENST00000535015.1_Silent_p.V586V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	554	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)	G-protein coupled receptor activity (GO:0004930)	p.V554V(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCAGGTGGTCCCGCTGGAGG	0.652																																						uc001uit.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1660-1662)GTC>GTG		G protein-coupled receptor 133 precursor							122.0	81.0	95.0					12																	131569199		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131569199C>G	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1662C>G	12.37:g.131569199C>G						GPR133_uc010tbm.1_Silent_p.V586V|GPR133_uc009zyo.2_Silent_p.V4V|GPR133_uc001uiv.1_Silent_p.V73V	p.V554V	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	15	2221	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		554			GPS.|Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1662C>G	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299090	0.23650	.	.	ENSG00000111452	ENST00000335486	.	.	.	4.8	-1.71	0.08133	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32587	-0.9901	4	.	.	.	.	3.1646	0.06531	0.3356:0.2138:0.3633:0.0873	.	.	.	.	C	76	.	.	S	+	2	0	GPR133	130135152	0.993000	0.37304	0.997000	0.53966	0.991000	0.79684	0.146000	0.16180	0.055000	0.16094	0.585000	0.79938	TCC		PASS	0.652	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		13	22	13	22	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133354336	133354336	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr12:133354336G>A	ENST00000450791.2	-	18	3821	c.3638C>T	c.(3637-3639)tCc>tTc	p.S1213F	GOLGA3_ENST00000456883.2_Missense_Mutation_p.S1213F|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S1213F			Q08378	GOGA3_HUMAN	golgin A3	1213					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.S1213F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGCTCCAAGGAGGCCGCCTT	0.637																																						uc001ukz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3637-3639)TCC>TTC		Golgi autoantigen, golgin subfamily a, 3							53.0	48.0	50.0					12																	133354336		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133354336G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3638C>T	12.37:g.133354336G>A	ENSP00000410378:p.Ser1213Phe					GOLGA3_uc001ula.1_Missense_Mutation_p.S1213F	p.S1213F	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	19	4197	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1213			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3638C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994769	0.54041	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.23147	1.92;1.92;1.92	5.59	4.69	0.59074	.	0.431161	0.29348	N	0.012414	T	0.18130	0.0435	N	0.14661	0.345	0.54753	D	0.999985	P;B	0.46220	0.874;0.355	P;B	0.44990	0.466;0.279	T	0.03545	-1.1026	10	0.30854	T	0.27	.	11.2421	0.48974	0.0712:0.1382:0.7906:0.0	.	1213;1213	Q08378-2;Q08378	.;GOGA3_HUMAN	F	1213	ENSP00000204726:S1213F;ENSP00000410378:S1213F;ENSP00000409303:S1213F	ENSP00000204726:S1213F	S	-	2	0	GOLGA3	131864409	0.970000	0.33590	0.877000	0.34402	0.940000	0.58332	2.545000	0.45769	1.329000	0.45376	0.561000	0.74099	TCC		PASS	0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		16	24	16	24	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567346	20567346	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20567346G>C	ENST00000382874.2	+	4	324	c.134G>C	c.(133-135)aGa>aCa	p.R45T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.R45T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R45T|ZMYM2_ENST00000382881.3_Missense_Mutation_p.R45T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.R45T(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTAGTGTCTAGATCTAATAAG	0.428																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(133-135)AGA>ACA		zinc finger protein 198							124.0	120.0	121.0					13																	20567346		1993	4193	6186	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567346G>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.134G>C	13.37:g.20567346G>C	ENSP00000372327:p.Arg45Thr					ZMYM2_uc001umq.2_Missense_Mutation_p.R45T|ZMYM2_uc001ums.2_Missense_Mutation_p.R45T|ZMYM2_uc001umt.2_Missense_Mutation_p.R45T|ZMYM2_uc009zzn.1_Missense_Mutation_p.R67T	p.R45T	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	432	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	45					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.134G>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636841	0.67130	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000011	T	0.34919	0.0914	L	0.36672	1.1	0.80722	D	1	P;P;P	0.40794	0.569;0.729;0.708	B;P;B	0.47402	0.129;0.546;0.227	T	0.02244	-1.1189	10	0.28530	T	0.3	0.0601	17.185	0.86863	0.0:0.0:1.0:0.0	.	45;45;45	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	T	45	ENSP00000372322:R45T;ENSP00000372334:R45T;ENSP00000372327:R45T;ENSP00000372324:R45T	ENSP00000372322:R45T	R	+	2	0	ZMYM2	19465346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.913000	0.48790	2.559000	0.86315	0.655000	0.94253	AGA		PASS	0.428	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		21	116	21	116	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567525	20567525	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20567525G>C	ENST00000382874.2	+	4	503	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E105Q|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E105Q|ZMYM2_ENST00000382881.3_Missense_Mutation_p.E105Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.E105Q(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTCCTCAAAAGAGTTGGCATC	0.363																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(313-315)GAG>CAG		zinc finger protein 198							49.0	49.0	49.0					13																	20567525		2072	4239	6311	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567525G>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.313G>C	13.37:g.20567525G>C	ENSP00000372327:p.Glu105Gln					ZMYM2_uc001umq.2_Missense_Mutation_p.E105Q|ZMYM2_uc001ums.2_Missense_Mutation_p.E105Q|ZMYM2_uc001umt.2_Missense_Mutation_p.E105Q|ZMYM2_uc009zzn.1_Missense_Mutation_p.E127Q	p.E105Q	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	611	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	105					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.313G>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898522	0.52227	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.39	5.39	0.77823	.	0.534287	0.19856	N	0.104536	T	0.23766	0.0575	N	0.08118	0	0.80722	D	1	B;B;B	0.32526	0.041;0.041;0.374	B;B;B	0.38056	0.058;0.058;0.264	T	0.14587	-1.0467	10	0.39692	T	0.17	-0.4906	19.5108	0.95140	0.0:0.0:1.0:0.0	.	105;105;105	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	Q	105	ENSP00000372322:E105Q;ENSP00000372334:E105Q;ENSP00000372327:E105Q;ENSP00000372324:E105Q	ENSP00000372322:E105Q	E	+	1	0	ZMYM2	19465525	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.463000	0.80869	2.670000	0.90874	0.650000	0.86243	GAG		PASS	0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		16	48	16	48	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567573	20567573	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20567573G>T	ENST00000382874.2	+	4	551	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	ZMYM2_ENST00000382871.2_Missense_Mutation_p.D121Y|ZMYM2_ENST00000382869.3_Missense_Mutation_p.D121Y|ZMYM2_ENST00000382881.3_Missense_Mutation_p.D121Y	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.D121Y(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGTCATTGATGATGAAGAGGA	0.368																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(361-363)GAT>TAT		zinc finger protein 198							63.0	65.0	64.0					13																	20567573		2094	4257	6351	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567573G>T	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.361G>T	13.37:g.20567573G>T	ENSP00000372327:p.Asp121Tyr					ZMYM2_uc001umq.2_Missense_Mutation_p.D121Y|ZMYM2_uc001ums.2_Missense_Mutation_p.D121Y|ZMYM2_uc001umt.2_Missense_Mutation_p.D121Y|ZMYM2_uc009zzn.1_Missense_Mutation_p.D143Y	p.D121Y	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	659	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	121					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.361G>T	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852338	0.71719	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.39	5.39	0.77823	.	0.296007	0.35739	N	0.003004	T	0.54967	0.1891	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.55724	-0.8096	10	0.87932	D	0	-1.636	19.5108	0.95140	0.0:0.0:1.0:0.0	.	121;121;121	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	Y	121	ENSP00000372322:D121Y;ENSP00000372334:D121Y;ENSP00000372327:D121Y;ENSP00000372324:D121Y	ENSP00000372322:D121Y	D	+	1	0	ZMYM2	19465573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.788000	0.85771	2.670000	0.90874	0.650000	0.86243	GAT		PASS	0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		25	64	25	64	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567803	20567803	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20567803G>A	ENST00000382874.2	+	4	781	c.591G>A	c.(589-591)gtG>gtA	p.V197V	ZMYM2_ENST00000382871.2_Silent_p.V197V|ZMYM2_ENST00000382869.3_Silent_p.V197V|ZMYM2_ENST00000382881.3_Intron	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.V197V(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAAGCTCTGTGAATGATGGCC	0.393																																						uc001umr.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(589-591)GTG>GTA		zinc finger protein 198							185.0	192.0	189.0					13																	20567803		2095	4239	6334	SO:0001819	synonymous_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567803G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.591G>A	13.37:g.20567803G>A						ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Silent_p.V197V|ZMYM2_uc001umt.2_Silent_p.V197V|ZMYM2_uc009zzn.1_Intron	p.V197V	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	889	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	197					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	c.591G>A	CCDS45016.1																																																																																				PASS	0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		115	306	115	306	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567851	20567851	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20567851G>A	ENST00000382874.2	+	4	829	c.639G>A	c.(637-639)atG>atA	p.M213I	ZMYM2_ENST00000382871.2_Missense_Mutation_p.M213I|ZMYM2_ENST00000382869.3_Missense_Mutation_p.M213I|ZMYM2_ENST00000382881.3_Intron	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.M213I(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGAACTTAATGATTACACATG	0.373																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(637-639)ATG>ATA		zinc finger protein 198							160.0	169.0	166.0					13																	20567851		2184	4296	6480	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567851G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.639G>A	13.37:g.20567851G>A	ENSP00000372327:p.Met213Ile					ZMYM2_uc001umq.2_Intron|ZMYM2_uc001ums.2_Missense_Mutation_p.M213I|ZMYM2_uc001umt.2_Missense_Mutation_p.M213I|ZMYM2_uc009zzn.1_Intron	p.M213I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	937	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	213					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.639G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284777	0.59867	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871	T;T;T	0.18657	2.2;2.2;2.2	5.6	5.6	0.85130	.	0.199855	0.51477	N	0.000091	T	0.19685	0.0473	L	0.34521	1.04	0.80722	D	1	P	0.34724	0.465	B	0.33690	0.168	T	0.02424	-1.1161	9	.	.	.	-0.2471	19.9894	0.97361	0.0:0.0:1.0:0.0	.	213	Q9UBW7	ZMYM2_HUMAN	I	213	ENSP00000372322:M213I;ENSP00000372327:M213I;ENSP00000372324:M213I	.	M	+	3	0	ZMYM2	19465851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.151000	0.89636	2.786000	0.95864	0.650000	0.86243	ATG		PASS	0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		88	246	88	246	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20568004	20568004	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20568004G>T	ENST00000382874.2	+	4	982	c.792G>T	c.(790-792)atG>atT	p.M264I	ZMYM2_ENST00000382871.2_Missense_Mutation_p.M264I|ZMYM2_ENST00000382869.3_Missense_Mutation_p.M264I|ZMYM2_ENST00000382881.3_Missense_Mutation_p.M177I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.M264I(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTGGTAGAATGAATGTGGCAG	0.373																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(790-792)ATG>ATT		zinc finger protein 198							128.0	132.0	131.0					13																	20568004		2203	4300	6503	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20568004G>T	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.792G>T	13.37:g.20568004G>T	ENSP00000372327:p.Met264Ile					ZMYM2_uc001umq.2_Missense_Mutation_p.M177I|ZMYM2_uc001ums.2_Missense_Mutation_p.M264I|ZMYM2_uc001umt.2_Missense_Mutation_p.M264I|ZMYM2_uc009zzn.1_Missense_Mutation_p.M199I	p.M264I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	1090	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	264					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.792G>T	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	5.813	0.334259	0.11013	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.16743	2.35;2.32;2.35;2.35	5.34	4.49	0.54785	.	0.184701	0.64402	N	0.000010	T	0.07638	0.0192	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.17722	0.005;0.003;0.019	T	0.26430	-1.0103	10	0.19147	T	0.46	0.2891	11.3639	0.49660	0.0:0.1369:0.7209:0.1423	.	264;264;177	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	I	264;264;177;264;264	ENSP00000372322:M264I;ENSP00000372334:M177I;ENSP00000372327:M264I;ENSP00000372324:M264I	ENSP00000372322:M264I	M	+	3	0	ZMYM2	19466004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.576000	0.46033	1.346000	0.45694	0.585000	0.79938	ATG		PASS	0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		62	217	62	217	---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20568028	20568028	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:20568028G>C	ENST00000382874.2	+	4	1006	c.816G>C	c.(814-816)caG>caC	p.Q272H	ZMYM2_ENST00000382871.2_Missense_Mutation_p.Q272H|ZMYM2_ENST00000382869.3_Missense_Mutation_p.Q272H|ZMYM2_ENST00000382881.3_Missense_Mutation_p.Q185H	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.Q272H(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACGTTTTTCAGAATGGAGAAT	0.368																																						uc001umr.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|prostate(1)	6						c.(814-816)CAG>CAC		zinc finger protein 198							119.0	124.0	123.0					13																	20568028		2203	4300	6503	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20568028G>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.816G>C	13.37:g.20568028G>C	ENSP00000372327:p.Gln272His					ZMYM2_uc001umq.2_Missense_Mutation_p.Q185H|ZMYM2_uc001ums.2_Missense_Mutation_p.Q272H|ZMYM2_uc001umt.2_Missense_Mutation_p.Q272H|ZMYM2_uc009zzn.1_Missense_Mutation_p.Q207H	p.Q272H	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	1114	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	272					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.816G>C	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088432	0.55968	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.23348	1.94;1.91;1.94;1.94	5.43	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.38175	1.15	0.80722	D	1	P;P;P	0.49185	0.853;0.92;0.775	P;P;B	0.54401	0.751;0.751;0.429	T	0.03433	-1.1037	10	0.54805	T	0.06	-0.0047	8.7347	0.34521	0.2414:0.0:0.7586:0.0	.	272;272;185	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	H	272;272;185;272;272	ENSP00000372322:Q272H;ENSP00000372334:Q185H;ENSP00000372327:Q272H;ENSP00000372324:Q272H	ENSP00000372322:Q272H	Q	+	3	2	ZMYM2	19466028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.559000	0.45888	1.406000	0.46857	0.650000	0.86243	CAG		PASS	0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		70	240	70	240	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53421590	53421591	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:53421590_53421591CC>AA	ENST00000377942.3	-	1	1184_1185	c.981_982GG>TT	c.(979-984)caGGac>caTTac	p.327_328QD>HY	PCDH8_ENST00000338862.4_Missense_Mutation_p.327_328QD>HY	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q327_D328>HY(1)|p.Q327H(1)|p.D328Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGTCCGCGGTCCTGCGCCCGCA	0.708																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	breast(1)	1						c.(982-984)GAC>TAC|c.(979-981)CAG>CAT		protocadherin 8 isoform 1 precursor																																				SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421590C>A|g.chr13:53421591C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.981_982delinsAA	13.37:g.53421590_53421591delinsAA	ENSP00000367177:p.Q327_D328delinsHY					PCDH8_uc001vhj.2_Missense_Mutation_p.D328Y|PCDH8_uc001vhj.2_Missense_Mutation_p.Q327H	p.D328Y|p.Q327H	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1185|1184	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	328|327			Extracellular (Potential).|Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.982G>T|c.981G>T	CCDS9438.1																																																																																				PASS	0.708	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		20|21	12	20	12	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102029054	102029054	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:102029054G>T	ENST00000251127.6	-	6	722	c.641C>A	c.(640-642)cCa>cAa	p.P214Q	NALCN_ENST00000376200.5_Missense_Mutation_p.P214Q|NALCN_ENST00000376196.3_Missense_Mutation_p.P214Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	214					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)	p.P214Q(1)		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)					AACTTACCCTGGCTTTGTGTC	0.284																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(640-642)CCA>CAA		voltage gated channel like 1							93.0	103.0	99.0					13																	102029054		2202	4298	6500	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029054G>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.641C>A	13.37:g.102029054G>T	ENSP00000251127:p.Pro214Gln					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P214Q|NALCN_uc001vpa.2_Missense_Mutation_p.P214Q	p.P214Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			6	830	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		214			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.641C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922038	0.33908	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98567	-4.67;-5.0;-4.38	4.77	4.77	0.60923	Ion transport (1);	0.347419	0.29684	N	0.011469	D	0.97167	0.9074	L	0.54908	1.71	0.36769	D	0.883703	P;B	0.44690	0.841;0.139	P;B	0.47470	0.548;0.225	D	0.98387	1.0561	10	0.40728	T	0.16	.	12.3067	0.54906	0.0:0.0:0.7018:0.2982	.	214;214	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	214	ENSP00000251127:P214Q;ENSP00000365367:P214Q;ENSP00000365373:P214Q	ENSP00000251127:P214Q	P	-	2	0	NALCN	100827055	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.063000	0.30567	2.205000	0.71048	0.650000	0.86243	CCA		PASS	0.284	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		56	126	56	126	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113527896	113527896	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:113527896G>A	ENST00000487903.1	+	27	3155	c.3067G>A	c.(3067-3069)Gac>Aac	p.D1023N	ATP11A_ENST00000375645.3_Missense_Mutation_p.D1023N|ATP11A_ENST00000375630.2_Missense_Mutation_p.D1023N|ATP11A_ENST00000283558.8_Missense_Mutation_p.D1023N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1023					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D1023N(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCTTGCATTGGACACACACTA	0.493											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001vsi.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(3067-3069)GAC>AAC		ATPase, class VI, type 11A isoform a							187.0	157.0	167.0					13																	113527896		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113527896G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3067G>A	13.37:g.113527896G>A	ENSP00000420387:p.Asp1023Asn		OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1451	ATP11A_uc001vsj.3_Missense_Mutation_p.D1023N|ATP11A_uc010ago.2_RNA	p.D1023N	NM_015205	NP_056020	P98196	AT11A_HUMAN			27	3155	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1023			Helical; (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.3067G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842829	0.32606	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000419631	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.3	3.45	0.39498	.	0.048168	0.85682	N	0.000000	T	0.60077	0.2241	L	0.41027	1.25	0.80722	D	1	B;B	0.33904	0.431;0.273	B;B	0.38264	0.269;0.105	T	0.60929	-0.7165	10	0.51188	T	0.08	.	12.6219	0.56607	0.0822:0.0:0.9178:0.0	.	1023;1023	E9PEJ6;P98196	.;AT11A_HUMAN	N	1023;1023;1023;1023;15	ENSP00000420387:D1023N;ENSP00000364781:D1023N;ENSP00000364796:D1023N;ENSP00000283558:D1023N;ENSP00000410824:D15N	ENSP00000283558:D1023N	D	+	1	0	ATP11A	112575897	1.000000	0.71417	0.161000	0.22692	0.125000	0.20455	7.146000	0.77373	0.940000	0.37473	-0.369000	0.07265	GAC		PASS	0.493	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		41	63	41	63	---	---	---	---
DCUN1D2	55208	broad.mit.edu	37	13	114112392	114112392	+	Silent	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr13:114112392T>C	ENST00000478244.1	-	7	1014	c.732A>G	c.(730-732)gtA>gtG	p.V244V	DCUN1D2_ENST00000332592.3_Silent_p.V111V	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	244	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.							p.V244V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GTGCATATTCTACAAAATCAT	0.433											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001vtr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GTA>GTG		DCN1, defective in cullin neddylation 1, domain							204.0	212.0	209.0					13																	114112392		2203	4300	6503	SO:0001819	synonymous_variant	55208							g.chr13:114112392T>C	AK001566	CCDS32013.1	13q34	2013-06-10	2013-06-10	2005-10-04	ENSG00000150401	ENSG00000150401			20328	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 17"", ""DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae)"""	C13orf17		15988528	Standard	XM_005268320		Approved	FLJ10704, FLJ20092	uc001vtr.1	Q6PH85	OTTHUMG00000017390	ENST00000478244.1:c.732A>G	13.37:g.114112392T>C			OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1455	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Silent_p.V111V	p.V244V	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)		7	771	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	244			DCUN1.		Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6	Silent	SNP	ENST00000478244.1	37	c.732A>G	CCDS32013.1																																																																																				PASS	0.433	DCUN1D2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045938.4	NM_018185		170	266	170	266	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21990847	21990847	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr14:21990847C>T	ENST00000327430.3	-	2	3309	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	1005					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T1005T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCATGGGATCGTGGGGTCAT	0.522																																						uc001wbe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(3013-3015)ACG>ACA		sal-like 2							59.0	65.0	63.0					14																	21990847		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21990847C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.3015G>A	14.37:g.21990847C>T						SALL2_uc010tly.1_Silent_p.T1003T|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	p.T1005T	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	3297	-	all_cancers(95;0.000662)		1005					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.3015G>A	CCDS32045.1																																																																																				PASS	0.522	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		37	30	37	30	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58598408	58598408	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr14:58598408C>T	ENST00000267485.7	-	4	1847	c.1653G>A	c.(1651-1653)gaG>gaA	p.E551E	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	551						integral component of membrane (GO:0016021)		p.E551E(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGTGAACTCCTCATTTGGCC	0.493																																						uc001xdc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1651-1653)GAG>GAA		hypothetical protein LOC145407 precursor							120.0	122.0	121.0					14																	58598408		2203	4300	6503	SO:0001819	synonymous_variant	145407					integral to membrane	binding	g.chr14:58598408C>T		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1653G>A	14.37:g.58598408C>T						C14orf37_uc010tro.1_Silent_p.E589E|C14orf37_uc001xdd.2_Silent_p.E551E|C14orf37_uc001xde.2_Silent_p.E551E	p.E551E	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			4	1764	-			551			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	ENST00000267485.7	37	c.1653G>A	CCDS32089.1																																																																																				PASS	0.493	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		57	70	57	70	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725471	106725471	+	RNA	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr14:106725471C>T	ENST00000390609.2	-	0	159									immunoglobulin heavy variable 3-23																		CCAAGCCTCCCCCAGACTCCA	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							89.0	112.0	105.0					14																	106725471		1868	4114	5982			8755							g.chr14:106725471C>T	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725471C>T														588		-									RNA	SNP	ENST00000390609.2	37	c.18076G>A																																																																																					PASS	0.557	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		39	123	39	123	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28465667	28465667	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:28465667G>A	ENST00000261609.7	-	37	5884	c.5776C>T	c.(5776-5778)Ctc>Ttc	p.L1926F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.L1926F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCAGCTTGAGGTCGTATTTT	0.567																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(5776-5778)CTC>TTC		hect domain and RLD 2							115.0	108.0	110.0					15																	28465667		2203	4298	6501	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28465667G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5776C>T	15.37:g.28465667G>A	ENSP00000261609:p.Leu1926Phe						p.L1926F	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	37	5882	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1926			MIB/HERC2.			Missense_Mutation	SNP	ENST00000261609.7	37	c.5776C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417008	0.83449	.	.	ENSG00000128731	ENST00000261609	T	0.68331	-0.32	4.79	3.88	0.44766	Mib-herc2 (2);	0.070498	0.56097	D	0.000040	D	0.84588	0.5505	M	0.92317	3.295	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.88069	0.2799	10	0.87932	D	0	.	13.1181	0.59311	0.0772:0.0:0.9228:0.0	.	1926	O95714	HERC2_HUMAN	F	1926	ENSP00000261609:L1926F	ENSP00000261609:L1926F	L	-	1	0	HERC2	26139262	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.452000	0.80683	1.250000	0.43966	0.650000	0.86243	CTC		PASS	0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		70	113	70	113	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33955780	33955780	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:33955780C>A	ENST00000389232.4	+	36	5531	c.5461C>A	c.(5461-5463)Cac>Aac	p.H1821N	RYR3_ENST00000415757.3_Missense_Mutation_p.H1821N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1821	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.H1821N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGCTGCAGCACCGAGTGGA	0.473																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5461-5463)CAC>AAC		ryanodine receptor 3							58.0	57.0	57.0					15																	33955780		2048	4206	6254	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955780C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5461C>A	15.37:g.33955780C>A	ENSP00000373884:p.His1821Asn					RYR3_uc010bar.2_Missense_Mutation_p.H1821N	p.H1821N	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	36	5531	+		all_lung(180;7.18e-09)	1821			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5461C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604563	0.66445	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73152	-0.31;-0.72	5.27	5.27	0.74061	.	0.057563	0.64402	D	0.000001	D	0.83207	0.5204	M	0.67397	2.05	0.53688	D	0.999971	D;D	0.63880	0.993;0.987	D;P	0.71656	0.974;0.857	D	0.84303	0.0506	10	0.72032	D	0.01	.	19.0812	0.93182	0.0:1.0:0.0:0.0	.	1821;1821	Q15413-2;Q15413	.;RYR3_HUMAN	N	1821	ENSP00000373884:H1821N;ENSP00000399610:H1821N	ENSP00000354735:H1821N	H	+	1	0	RYR3	31743072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.768000	0.68858	2.729000	0.93468	0.561000	0.74099	CAC		PASS	0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	30	13	30	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50271902	50271902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:50271902C>A	ENST00000284509.6	-	12	1087	c.946G>T	c.(946-948)Gag>Tag	p.E316*	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E316*|RNA5SP394_ENST00000364216.1_RNA	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	316						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)	p.E316*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAGCTCTTCTCTCCTTCATTC	0.378																																						uc001zxu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(946-948)GAG>TAG		ATPase class I type 8B member 4							110.0	118.0	115.0					15																	50271902		2196	4295	6491	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50271902C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.946G>T	15.37:g.50271902C>A	ENSP00000284509:p.Glu316*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.E189*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.E189*|ATP8B4_uc010ufe.1_RNA	p.E316*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	12	1088	-		all_lung(180;0.00183)	316			Extracellular (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.946G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882814	0.91740	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.68	3.82	0.43975	.	0.577413	0.18760	N	0.131904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	10.1679	0.42890	0.0:0.8381:0.0:0.1619	.	.	.	.	X	316	.	ENSP00000284509:E316X	E	-	1	0	ATP8B4	48059194	0.000000	0.05858	0.990000	0.47175	0.996000	0.88848	0.544000	0.23253	0.778000	0.33520	0.650000	0.86243	GAG		PASS	0.378	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		84	142	84	142	---	---	---	---
PIF1	80119	broad.mit.edu	37	15	65108795	65108795	+	Missense_Mutation	SNP	C	C	A	rs78139154	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:65108795C>A	ENST00000268043.4	-	12	1938	c.1844G>T	c.(1843-1845)cGg>cTg	p.R615L	PIF1_ENST00000333425.6_Missense_Mutation_p.R615L|PIF1_ENST00000559239.1_Missense_Mutation_p.R615L					PIF1 5'-to-3' DNA helicase									p.R615L(1)		kidney(1)|lung(1)	2						CCTGCCCCGCCGCAGGGTGGC	0.672																																						uc002ant.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1843-1845)CGG>CTG		DNA helicase homolog PIF1							46.0	55.0	52.0					15																	65108795		2202	4297	6499	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65108795C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1844G>T	15.37:g.65108795C>A	ENSP00000268043:p.Arg615Leu					PIF1_uc002anr.2_Missense_Mutation_p.R163L|PIF1_uc002ans.2_Missense_Mutation_p.R306L|PIF1_uc010uiq.1_Missense_Mutation_p.R615L	p.R615L	NM_025049	NP_079325	Q9H611	PIF1_HUMAN			12	1910	-			615			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1844G>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577143	0.86645	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.80033	-0.3;-1.33	5.74	-4.82	0.03171	.	0.361310	0.32671	N	0.005797	T	0.58323	0.2114	N	0.08118	0	0.39438	D	0.967201	P	0.45240	0.854	B	0.43508	0.422	T	0.59511	-0.7441	10	0.54805	T	0.06	-6.4901	7.9295	0.29893	0.0:0.4336:0.1785:0.3879	.	615	Q9H611	PIF1_HUMAN	L	615	ENSP00000268043:R615L;ENSP00000328174:R615L	ENSP00000268043:R615L	R	-	2	0	PIF1	62895848	0.967000	0.33354	0.075000	0.20258	0.825000	0.46686	0.263000	0.18478	-1.308000	0.02318	-0.797000	0.03246	CGG		PASS	0.672	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		38	73	38	73	---	---	---	---
CT62	196993	broad.mit.edu	37	15	71404546	71404546	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:71404546G>T	ENST00000449977.2	-	3	582	c.76C>A	c.(76-78)Cac>Aac	p.H26N	THSD4_ENST00000355327.3_Intron|CT62_ENST00000566432.1_Missense_Mutation_p.H26N	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	26								p.H26N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						AATGTTCTGTGGGTGTGGCTG	0.517																																						uc002ata.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CAC>AAC		cancer/testis antigen 62							96.0	117.0	110.0					15																	71404546		2071	4217	6288	SO:0001583	missense	196993							g.chr15:71404546G>T	BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.76C>A	15.37:g.71404546G>T	ENSP00000399356:p.His26Asn						p.H26N	NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN			3	589	-			26						Missense_Mutation	SNP	ENST00000449977.2	37	c.76C>A	CCDS45295.1	.	.	.	.	.	.	.	.	.	.	G	4.411	0.075872	0.08485	.	.	ENSG00000225362	ENST00000449977	.	.	.	2.95	-2.84	0.05751	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.26310	0.068	T	0.21245	-1.0251	8	0.87932	D	0	.	3.5865	0.07973	0.5047:0.0:0.3005:0.1947	.	26	P0C5K7	CT62_HUMAN	N	26	.	ENSP00000399356:H26N	H	-	1	0	CT62	69191600	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.799000	0.04560	-0.713000	0.04981	-0.145000	0.13849	CAC		PASS	0.517	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		8	25	8	25	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75012843	75012843	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:75012843T>A	ENST00000379727.3	-	7	1724	c.1526A>T	c.(1525-1527)cAg>cTg	p.Q509L	CYP1A1_ENST00000395048.2_Missense_Mutation_p.Q509L|CYP1A1_ENST00000395049.4_Missense_Mutation_p.Q480L|CYP1A1_ENST00000567032.1_Missense_Mutation_p.Q509L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	509					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.Q509L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGAGCGCAGCTGCATTTGGAA	0.572									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1525-1527)CAG>CTG		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						99.0	89.0	92.0					15																	75012843		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75012843T>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1526A>T	15.37:g.75012843T>A	ENSP00000369050:p.Gln509Leu					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.Q245L|CYP1A1_uc010bjx.2_Missense_Mutation_p.Q245L|CYP1A1_uc002ayq.3_Missense_Mutation_p.Q509L|CYP1A1_uc010bjy.2_Missense_Mutation_p.Q480L	p.Q509L	NM_000499	NP_000490	P04798	CP1A1_HUMAN			7	1648	-			509					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.1526A>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178473	0.38511	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.70399	-0.48;-0.48;-0.35	5.65	-0.94	0.10405	.	1.493120	0.03801	N	0.264486	T	0.54464	0.1860	N	0.17474	0.49	0.09310	N	1	B;B	0.25850	0.136;0.081	B;B	0.23275	0.045;0.045	T	0.46176	-0.9210	10	0.59425	D	0.04	.	7.1602	0.25659	0.0:0.3314:0.1128:0.5558	.	480;509	E7EMT5;P04798	.;CP1A1_HUMAN	L	509;509;480;481	ENSP00000369050:Q509L;ENSP00000378488:Q509L;ENSP00000378489:Q480L	ENSP00000268062:Q481L	Q	-	2	0	CYP1A1	72799896	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	0.230000	0.17852	-0.423000	0.07394	-0.261000	0.10672	CAG		PASS	0.572	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		48	75	48	75	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80872844	80872844	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:80872844A>G	ENST00000303329.4	+	16	1871	c.1706A>G	c.(1705-1707)cAg>cGg	p.Q569R	ARNT2_ENST00000527771.1_Missense_Mutation_p.Q558R|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000533983.1_Missense_Mutation_p.Q558R|hsa-mir-5572_ENST00000583188.1_RNA	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	569					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q569R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CAGCTAAACCAGAGTCAGGTG	0.557																																						uc002bfr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1705-1707)CAG>CGG		aryl hydrocarbon receptor nuclear translocator							95.0	85.0	88.0					15																	80872844		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80872844A>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1706A>G	15.37:g.80872844A>G	ENSP00000307479:p.Gln569Arg					ARNT2_uc010unm.1_Missense_Mutation_p.Q558R|ARNT2_uc002bfs.2_Missense_Mutation_p.Q558R	p.Q569R	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		16	1872	+			569					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1706A>G	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904588	0.52333	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.46451	0.87	5.02	5.02	0.67125	.	0.323804	0.29260	N	0.012668	T	0.24236	0.0587	N	0.08118	0	0.35629	D	0.810099	B	0.20261	0.043	B	0.21151	0.033	T	0.22521	-1.0214	10	0.49607	T	0.09	.	10.8333	0.46673	0.8418:0.1582:0.0:0.0	.	569	Q9HBZ2	ARNT2_HUMAN	R	558;569	ENSP00000307479:Q569R	ENSP00000307479:Q569R	Q	+	2	0	ARNT2	78659899	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	5.764000	0.68826	1.887000	0.54652	0.459000	0.35465	CAG		PASS	0.557	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			28	46	28	46	---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83224681	83224681	+	Silent	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:83224681G>T	ENST00000562019.1	-	5	1114	c.798C>A	c.(796-798)ctC>ctA	p.L266L	CPEB1_ENST00000398592.2_Silent_p.L40L|CPEB1_ENST00000261723.6_Silent_p.L269L|CPEB1_ENST00000564522.1_Silent_p.L191L|CPEB1_ENST00000568128.1_Silent_p.L266L|CPEB1_ENST00000450751.2_Silent_p.L191L|CPEB1_ENST00000563800.1_Silent_p.L293L|RP11-152F13.10_ENST00000562833.1_Nonsense_Mutation_p.S1*|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.L191L|CPEB1_ENST00000398591.2_Silent_p.L191L|CPEB1_ENST00000423133.2_Silent_p.L191L			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	266					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.L191L(1)|p.L266L(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGGAGCTTCGAGGAGGTCCC	0.592																																						uc002bit.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(976-978)CTC>CTA		cytoplasmic polyadenylation element binding							55.0	55.0	55.0					15																	83224681		1957	4141	6098	SO:0001819	synonymous_variant	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83224681G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.798C>A	15.37:g.83224681G>T						CPEB1_uc002biq.2_Silent_p.L191L|CPEB1_uc002bir.2_Silent_p.L191L|CPEB1_uc002bis.2_Silent_p.L191L|CPEB1_uc010uod.1_Silent_p.L40L|CPEB1_uc010uoe.1_Silent_p.L269L|CPEB1_uc002biu.2_Silent_p.L293L|CPEB1_uc010uof.1_Silent_p.L191L|CPEB1_uc002biv.2_Silent_p.L266L|CPEB1_uc002bip.2_Silent_p.L40L	p.L326L	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		5	1115	-			266					B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Silent	SNP	ENST00000562019.1	37	c.978C>A																																																																																					PASS	0.592	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		30	47	30	47	---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90897909	90897909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:90897909C>A	ENST00000354377.3	+	2	203	c.17C>A	c.(16-18)tCa>tAa	p.S6*	ZNF774_ENST00000379090.5_Nonsense_Mutation_p.S6*|ZNF774_ENST00000558115.1_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	6	KRAB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S6*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGGGGACTTCAGGGAAGAGT	0.483																																						uc002bpk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(16-18)TCA>TAA		zinc finger protein 774							93.0	85.0	88.0					15																	90897909		2199	4298	6497	SO:0001587	stop_gained	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90897909C>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.17C>A	15.37:g.90897909C>A	ENSP00000346348:p.Ser6*						p.S6*	NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	203	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		6			KRAB.		A8K020	Nonsense_Mutation	SNP	ENST00000354377.3	37	c.17C>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	C	36	5.858479	0.97036	.	.	ENSG00000196391	ENST00000354377;ENST00000379090	.	.	.	4.27	4.27	0.50696	.	0.000000	0.29544	U	0.011857	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0634	0.53574	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000346348:S6X	S	+	2	0	ZNF774	88698913	1.000000	0.71417	0.976000	0.42696	0.661000	0.39034	3.471000	0.53107	2.226000	0.72624	0.460000	0.39030	TCA		PASS	0.483	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		10	23	10	23	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12142233	12142233	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:12142233G>A	ENST00000566228.1	+	7	573	c.504G>A	c.(502-504)ctG>ctA	p.L168L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	168	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGGCAGGTCTGAACTCCATAC	0.473																																						uc002dbw.1										T					CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)CTG>CTA		RUN domain containing 2A							135.0	131.0	133.0					16																	12142233		2197	4300	6497	SO:0001819	synonymous_variant	84127							g.chr16:12142233G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.504G>A	16.37:g.12142233G>A							p.L168L	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			7	566	+			168			RUN.		B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.504G>A	CCDS10553.2																																																																																				PASS	0.473	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			69	101	69	101	---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14014057	14014057	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:14014057T>C	ENST00000311895.7	+	1	44	c.35T>C	c.(34-36)aTg>aCg	p.M12T	ERCC4_ENST00000575156.1_Missense_Mutation_p.M12T	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	12	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.M12T(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CGGATTGCCATGGCGCCGCTG	0.677			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(34-36)ATG>ACG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							37.0	39.0	39.0					16																	14014057		2196	4297	6493	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14014057T>C	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.35T>C	16.37:g.14014057T>C	ENSP00000310520:p.Met12Thr					ERCC4_uc010bva.2_Missense_Mutation_p.M12T	p.M12T	NM_005236	NP_005227	Q92889	XPF_HUMAN			1	44	+			12					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.35T>C	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876589	0.51801	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.59638	0.25	5.13	5.13	0.70059	.	0.127409	0.64402	D	0.000001	T	0.51635	0.1686	L	0.39898	1.24	0.52501	D	0.999953	B;P	0.49447	0.13;0.924	B;B	0.43809	0.051;0.432	T	0.52200	-0.8607	10	0.37606	T	0.19	-43.6739	14.5635	0.68156	0.0:0.0:0.0:1.0	.	12;12	A5PKV6;Q92889	.;XPF_HUMAN	T	12;1;1	ENSP00000310520:M12T	ENSP00000310520:M12T	M	+	2	0	ERCC4	13921558	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	6.674000	0.74487	2.279000	0.76181	0.533000	0.62120	ATG		PASS	0.677	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		20	47	20	47	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20442601	20442601	+	Silent	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:20442601T>A	ENST00000331849.4	+	10	1413	c.1266T>A	c.(1264-1266)cgT>cgA	p.R422R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R422R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TTGCCGTCCGTATCAGACCCA	0.507																																						uc002dhe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1264-1266)CGT>CGA		acyl-CoA synthetase medium-chain family member 5							189.0	156.0	167.0					16																	20442601		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442601T>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1266T>A	16.37:g.20442601T>A							p.R422R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1413	+			422					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1266T>A	CCDS10585.1																																																																																				PASS	0.507	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		67	135	67	135	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20554474	20554474	+	Silent	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:20554474A>G	ENST00000329697.6	-	11	1560	c.1392T>C	c.(1390-1392)gaT>gaC	p.D464D	ACSM2B_ENST00000565322.1_Silent_p.D385D|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Silent_p.D464D|ACSM2B_ENST00000565232.1_Silent_p.D464D	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	464					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.D464D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTAATGATATCATCTGCCC	0.502																																						uc002dhj.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1390-1392)GAT>GAC		acyl-CoA synthetase medium-chain family member							336.0	355.0	349.0					16																	20554474		2200	4299	6499	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554474A>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1392T>C	16.37:g.20554474A>G						ACSM2B_uc002dhk.3_Silent_p.D464D|ACSM2B_uc010bwf.1_Silent_p.D464D	p.D464D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1602	-			464					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.1392T>C	CCDS10586.1																																																																																				PASS	0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		150	480	150	480	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25264286	25264286	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:25264286C>T	ENST00000328086.7	-	3	1462	c.659G>A	c.(658-660)cGg>cAg	p.R220Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	220					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R220Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AGCAGGAAGCCGTGTGGTTGT	0.483																																						uc002dod.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(658-660)CGG>CAG		zinc finger with KRAB and SCAN domains 2							160.0	158.0	159.0					16																	25264286		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25264286C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.659G>A	16.37:g.25264286C>T	ENSP00000331626:p.Arg220Gln					ZKSCAN2_uc010vcl.1_Silent_p.T12T|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R220Q	p.R220Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	3	1066	-			220					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.659G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	8.495	0.862832	0.17178	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.14022	2.54	5.99	-8.6	0.00889	.	2.326830	0.01576	N	0.020809	T	0.07683	0.0193	L	0.29908	0.895	0.09310	N	1	B;B	0.14012	0.009;0.004	B;B	0.16722	0.016;0.001	T	0.25847	-1.0120	10	0.23302	T	0.38	1.3336	2.8355	0.05513	0.1289:0.1429:0.1966:0.5315	.	220;220	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	Q	220	ENSP00000331626:R220Q	ENSP00000331626:R220Q	R	-	2	0	ZKSCAN2	25171787	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.623000	0.00411	-1.156000	0.02818	-0.136000	0.14681	CGG		PASS	0.483	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		10	879	10	879	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147451	26147451	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:26147451C>T	ENST00000331351.5	+	2	1645	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	418					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.P418L(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGGACTCATCCTCGCATTGAC	0.463																																						uc002dof.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(1252-1254)CCT>CTT		heparan sulfate D-glucosaminyl							58.0	52.0	53.0					16																	26147451		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147451C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1253C>T	16.37:g.26147451C>T	ENSP00000330606:p.Pro418Leu						p.P418L	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1645	+			418			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.1253C>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909623	0.92107	.	.	ENSG00000182601	ENST00000331351	T	0.60424	0.19	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	T	0.77772	0.4180	M	0.93462	3.42	0.80722	D	1	D	0.58268	0.982	P	0.52031	0.688	D	0.84491	0.0611	10	0.87932	D	0	.	18.5023	0.90887	0.0:1.0:0.0:0.0	.	418	Q9Y661	HS3S4_HUMAN	L	418	ENSP00000330606:P418L	ENSP00000330606:P418L	P	+	2	0	HS3ST4	26054952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.783000	0.85696	2.602000	0.87976	0.655000	0.94253	CCT		PASS	0.463	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		11	154	11	154	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30724634	30724634	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:30724634G>C	ENST00000262518.4	+	15	2621	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H	SRCAP_ENST00000395059.2_Missense_Mutation_p.D746H|SRCAP_ENST00000344771.4_Missense_Mutation_p.D746H|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	746	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.D746H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCATTCTGGATGAGGCGCA	0.527																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2236-2238)GAT>CAT		Snf2-related CBP activator protein							127.0	112.0	117.0					16																	30724634		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724634G>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2236G>C	16.37:g.30724634G>C	ENSP00000262518:p.Asp746His					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D603H|SRCAP_uc010bzz.1_Missense_Mutation_p.D316H	p.D746H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2621	+			746			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2236G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324806	0.60634	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.99857	-7.22;-7.22;-7.22	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000015	D	0.99924	0.9965	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96235	0.9171	10	0.87932	D	0	-14.1374	18.1345	0.89614	0.0:0.0:1.0:0.0	.	746;746;746	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	H	746	ENSP00000262518:D746H;ENSP00000378499:D746H;ENSP00000343042:D746H	ENSP00000262518:D746H	D	+	1	0	SRCAP	30632135	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.630000	0.98420	2.816000	0.96949	0.563000	0.77884	GAT		PASS	0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		40	208	40	208	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57059850	57059850	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:57059850G>A	ENST00000262510.6	+	6	1220	c.995G>A	c.(994-996)tGc>tAc	p.C332Y	NLRC5_ENST00000308149.7_Missense_Mutation_p.C332Y|NLRC5_ENST00000436936.1_Missense_Mutation_p.C332Y|NLRC5_ENST00000539144.1_Missense_Mutation_p.C332Y	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	332	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.C332Y(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TCCCATCTCTGCAATGGGACC	0.622																																						uc002ekk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.(994-996)TGC>TAC		nucleotide-binding oligomerization domains 27							61.0	62.0	62.0					16																	57059850		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57059850G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.995G>A	16.37:g.57059850G>A	ENSP00000262510:p.Cys332Tyr					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.C137Y|NLRC5_uc002ekl.2_Missense_Mutation_p.C137Y|NLRC5_uc002ekm.2_Missense_Mutation_p.C137Y|NLRC5_uc010ccr.1_RNA	p.C332Y	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1220	+		all_neural(199;0.225)	332			NACHT.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.995G>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854878	0.32791	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.63	5.63	0.86233	NACHT nucleoside triphosphatase (1);	0.000000	0.37623	N	0.002019	D	0.86952	0.6057	M	0.76574	2.34	0.34760	D	0.732668	D;D;D;D	0.89917	1.0;1.0;0.992;0.997	D;D;D;D	0.80764	0.994;0.994;0.929;0.978	D	0.91065	0.4888	10	0.66056	D	0.02	.	13.6174	0.62118	0.0:0.0:0.8452:0.1548	.	332;332;332;332	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	Y	332	ENSP00000262510:C332Y;ENSP00000308886:C332Y;ENSP00000389739:C332Y;ENSP00000441727:C332Y	ENSP00000262510:C332Y	C	+	2	0	NLRC5	55617351	0.999000	0.42202	0.997000	0.53966	0.012000	0.07955	3.127000	0.50484	2.654000	0.90174	0.561000	0.74099	TGC		PASS	0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	65	4	65	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70604043	70604043	+	Silent	SNP	G	G	A	rs199732910		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr16:70604043G>A	ENST00000302516.5	+	24	3610	c.3399G>A	c.(3397-3399)acG>acA	p.T1133T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1133					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.T1133T(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGCCATTCACGTCCCATGAGG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18241	0.001		0.0	False		,,,				2504	0.0					uc002ezf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3397-3399)ACG>ACA		splicing factor 3b, subunit 3							163.0	117.0	133.0					16																	70604043		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70604043G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3399G>A	16.37:g.70604043G>A							p.T1133T	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			24	3610	+		Ovarian(137;0.0694)	1133					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3399G>A	CCDS10894.1																																																																																				PASS	0.502	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		35	27	35	27	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538132	1538132	+	Missense_Mutation	SNP	G	G	C	rs377133011		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:1538132G>C	ENST00000263071.4	-	11	2462	c.2413C>G	c.(2413-2415)Cag>Gag	p.Q805E	SCARF1_ENST00000348987.3_Missense_Mutation_p.Q719E|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	805					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.Q805E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTGCTTCTGGGGATCCTGT	0.592																																						uc002fsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2413-2415)CAG>GAG		scavenger receptor class F, member 1 isoform 1							105.0	118.0	114.0					17																	1538132		2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538132G>C	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2413C>G	17.37:g.1538132G>C	ENSP00000263071:p.Gln805Glu					SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.Q719E	p.Q805E	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2463	-			805			Cytoplasmic (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2413C>G	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.638119	0.67130	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.21031	2.03;2.72	5.11	4.1	0.47936	.	0.376059	0.19456	N	0.113801	T	0.30135	0.0755	L	0.29908	0.895	0.09310	N	1	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	T	0.06303	-1.0834	10	0.25751	T	0.34	-6.9509	11.7708	0.51958	0.0:0.1763:0.8237:0.0	.	719;805	Q14162-2;Q14162	.;SREC_HUMAN	E	805;719	ENSP00000263071:Q805E;ENSP00000323964:Q719E	ENSP00000263071:Q805E	Q	-	1	0	SCARF1	1484882	0.987000	0.35691	0.985000	0.45067	0.448000	0.32197	3.062000	0.49971	2.388000	0.81334	0.479000	0.44913	CAG		PASS	0.592	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		5	186	5	186	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1585180	1585180	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:1585180T>A	ENST00000572621.1	-	4	852	c.587A>T	c.(586-588)gAc>gTc	p.D196V	PRPF8_ENST00000304992.6_Missense_Mutation_p.D196V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	196					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.D196V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTCCTCAGGGTCCAGCTCTAG	0.547																																						uc002fte.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(586-588)GAC>GTC		U5 snRNP-specific protein							100.0	103.0	102.0					17																	1585180		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585180T>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.587A>T	17.37:g.1585180T>A	ENSP00000460348:p.Asp196Val						p.D196V	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	5	701	-			196					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.587A>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486502	0.84854	.	.	ENSG00000174231	ENST00000304992	T	0.52526	0.66	5.49	5.49	0.81192	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.91406	3.205	0.80722	D	1	P	0.50710	0.938	D	0.63488	0.915	T	0.80747	-0.1244	10	0.87932	D	0	.	15.5944	0.76566	0.0:0.0:0.0:1.0	.	196	Q6P2Q9	PRP8_HUMAN	V	196	ENSP00000304350:D196V	ENSP00000304350:D196V	D	-	2	0	PRPF8	1531930	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.013000	0.88655	2.089000	0.63090	0.454000	0.30748	GAC		PASS	0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	138	5	138	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCGCTATCTGAGCAGCGCTC	0.647		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.S183*(21)|p.0?(7)|p.R174fs*24(3)|p.S183P(3)|p.?(2)|p.S183L(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.E180_S183del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R42fs*24(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(547-549)TCA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	46.0	47.0					17																	7578382		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578382G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.S183*|TP53_uc002gih.2_Nonsense_Mutation_p.S183*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S51*|TP53_uc010cng.1_Nonsense_Mutation_p.S51*|TP53_uc002gii.1_Nonsense_Mutation_p.S51*|TP53_uc010cnh.1_Nonsense_Mutation_p.S183*|TP53_uc010cni.1_Nonsense_Mutation_p.S183*|TP53_uc002gij.2_Nonsense_Mutation_p.S183*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S90*|TP53_uc002gio.2_Nonsense_Mutation_p.S51*|TP53_uc010vug.1_Nonsense_Mutation_p.S144*	p.S183*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	742	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	183		S -> P (in sporadic cancers; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.548C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA		PASS	0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	22	51	22	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18668086	18668086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:18668086C>T	ENST00000395665.4	+	8	1686	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	FBXW10_ENST00000395667.1_Nonsense_Mutation_p.R489*|FBXW10_ENST00000301938.4_Nonsense_Mutation_p.R489*|FBXW10_ENST00000308799.4_Nonsense_Mutation_p.R518*			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	489								p.R489*(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTTTGCACACGAATCTTCGG	0.493																																						uc002guk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1465-1467)CGA>TGA		F-box and WD-40 domain protein 10							59.0	58.0	58.0					17																	18668086		2201	4280	6481	SO:0001587	stop_gained	10517							g.chr17:18668086C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1465C>T	17.37:g.18668086C>T	ENSP00000379025:p.Arg489*					FBXW10_uc002guj.2_Nonsense_Mutation_p.R489*|FBXW10_uc002gul.2_Nonsense_Mutation_p.R518*|FBXW10_uc010cqh.1_Nonsense_Mutation_p.R489*	p.R489*	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			8	1697	+			489			WD 3.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Nonsense_Mutation	SNP	ENST00000395665.4	37	c.1465C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	35	5.426346	0.96131	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	3.59	2.52	0.30459	.	0.000000	0.30704	U	0.009052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7042	0.28640	0.3903:0.6097:0.0:0.0	.	.	.	.	X	489;518;489;489	.	ENSP00000306937:R489X	R	+	1	2	FBXW10	18608811	0.995000	0.38212	0.906000	0.35671	0.426000	0.31534	3.010000	0.49559	1.831000	0.53308	0.194000	0.17425	CGA		PASS	0.493	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		6	103	6	103	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33689942	33689942	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:33689942G>A	ENST00000394566.1	-	4	1157	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SLFN11_ENST00000308377.4_Silent_p.F295F	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	295					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.F295F(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGAGTGTGAAGGTTATCG	0.418																																						uc010ctp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(883-885)TTC>TTT		schlafen family member 11							188.0	187.0	187.0					17																	33689942		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33689942G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.885C>T	17.37:g.33689942G>A						SLFN11_uc010ctq.2_Silent_p.F295F|SLFN11_uc002hjh.3_Silent_p.F295F|SLFN11_uc002hjg.3_Silent_p.F295F|SLFN11_uc010ctr.2_Silent_p.F295F	p.F295F	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1327	-		Ovarian(249;0.17)	295					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.885C>T	CCDS11294.1																																																																																				PASS	0.418	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		118	41	118	41	---	---	---	---
KRTAP9-8	83901	broad.mit.edu	37	17	39394625	39394625	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:39394625C>A	ENST00000254072.6	+	1	329	c.322C>A	c.(322-324)Ccc>Acc	p.P108T		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	108	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)		p.P108T(1)		lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCTACCACCCCACGACTGT	0.627																																						uc002hwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)CCC>ACC		keratin associated protein 9.8							114.0	134.0	127.0					17																	39394625		2108	4300	6408	SO:0001583	missense	83901					keratin filament		g.chr17:39394625C>A	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.322C>A	17.37:g.39394625C>A	ENSP00000254072:p.Pro108Thr					KRTAP9-9_uc010wfq.1_Intron	p.P108T	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	356	+		Breast(137;0.000496)	108			15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Missense_Mutation	SNP	ENST00000254072.6	37	c.322C>A	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.748683	0.30955	.	.	ENSG00000187272	ENST00000254072	T	0.05855	3.38	2.19	-0.00697	0.14011	.	.	.	.	.	T	0.17662	0.0424	M	0.66378	2.025	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.07366	-1.0776	9	0.52906	T	0.07	.	6.6462	0.22936	0.0:0.7313:0.0:0.2687	.	108	Q9BYQ0	KRA98_HUMAN	T	108	ENSP00000254072:P108T	ENSP00000254072:P108T	P	+	1	0	KRTAP9-8	36648151	0.875000	0.30112	0.031000	0.17742	0.052000	0.14988	0.336000	0.19823	0.029000	0.15352	0.400000	0.26472	CCC		PASS	0.627	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1			82	40	82	40	---	---	---	---
EFCAB13	124989	broad.mit.edu	37	17	45452306	45452306	+	Missense_Mutation	SNP	C	C	T	rs144496511		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:45452306C>T	ENST00000331493.2	+	12	1757	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T353M	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	449						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T449M(1)									GTTTCGTCTACGGAAAAAACT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		16716	0.001		0.0	False		,,,				2504	0.0					uc002iln.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1345-1347)ACG>ATG		hypothetical protein LOC124989							41.0	41.0	41.0					17																	45452306		2203	4300	6503	SO:0001583	missense	124989						calcium ion binding	g.chr17:45452306C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1346C>T	17.37:g.45452306C>T	ENSP00000332111:p.Thr449Met					C17orf57_uc002ilm.2_Missense_Mutation_p.T353M|C17orf57_uc002ill.1_Missense_Mutation_p.T205M|C17orf57_uc010daz.1_Missense_Mutation_p.T401M	p.T449M	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			12	1757	+			449					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1346C>T	CCDS11512.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	7.202	0.593759	0.13875	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.66099	0.19;-0.19	3.56	0.00927	0.14078	.	1.291600	0.05091	N	0.485211	T	0.28665	0.0710	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.29862	0.003;0.259;0.007	B;B;B	0.14578	0.001;0.011;0.003	T	0.11155	-1.0599	9	.	.	.	-3.0787	4.0261	0.09688	0.4444:0.195:0.0:0.3605	.	401;449;353	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	M	449;353;401	ENSP00000332111:T449M;ENSP00000430048:T353M	.	T	+	2	0	C17orf57	42807305	0.917000	0.31117	0.103000	0.21229	0.041000	0.13682	1.059000	0.30517	-0.044000	0.13491	-1.522000	0.00932	ACG		PASS	0.358	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		13	25	13	25	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63746836	63746836	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:63746836T>G	ENST00000392769.2	-	22	2619	c.2401A>C	c.(2401-2403)Agc>Cgc	p.S801R	CEP112_ENST00000537949.1_Missense_Mutation_p.S759R|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.S801R|CEP112_ENST00000317442.8_Missense_Mutation_p.S57R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	801					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.S801R(2)|p.S57R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCAGCTTGCTGTTGGCCTGA	0.443																																						uc002jfl.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2401-2403)AGC>CGC		coiled-coil domain containing 46 isoform a							213.0	170.0	185.0					17																	63746836		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:63746836T>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2401A>C	17.37:g.63746836T>G	ENSP00000376522:p.Ser801Arg					CCDC46_uc010deo.2_Intron|CCDC46_uc002jfm.2_Missense_Mutation_p.S801R|CCDC46_uc010dep.2_Missense_Mutation_p.S759R|CCDC46_uc002jfk.2_Missense_Mutation_p.S57R	p.S801R	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		22	2620	-			801			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2401A>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180788	0.38511	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000537949	T;T;T	0.51574	0.7;0.7;0.72	5.43	4.35	0.52113	.	0.467304	0.23809	N	0.044354	T	0.41880	0.1178	L	0.53249	1.67	0.80722	D	1	B;B;B	0.18610	0.013;0.013;0.029	B;B;B	0.17722	0.019;0.019;0.015	T	0.21177	-1.0253	10	0.34782	T	0.22	-3.3232	10.2231	0.43209	0.1481:0.0:0.0:0.8519	.	759;801;57	F5GYE8;Q8N8E3;Q8N8E3-2	.;CE112_HUMAN;.	R	801;801;57;759	ENSP00000442784:S801R;ENSP00000376522:S801R;ENSP00000440775:S759R	ENSP00000320592:S57R	S	-	1	0	CEP112	61177298	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.770000	0.38532	0.891000	0.36235	0.459000	0.35465	AGC		PASS	0.443	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		3	88	3	88	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72344020	72344020	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:72344020C>A	ENST00000389916.4	+	9	1167	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	343	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.A343A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCGGCCGGGCCAAGAACATTA	0.627																																						uc002jkm.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1027-1029)GCC>GCA		kinesin family member 19							42.0	35.0	38.0					17																	72344020		2192	4286	6478	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72344020C>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1029C>A	17.37:g.72344020C>A						KIF19_uc002jkj.2_Silent_p.A343A|KIF19_uc002jkk.2_Silent_p.A301A|KIF19_uc002jkl.2_Silent_p.A301A	p.A343A	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			9	1167	+			343					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1029C>A	CCDS32718.2																																																																																				PASS	0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		6	4	6	4	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73566264	73566264	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:73566264G>A	ENST00000392550.3	+	15	1919	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	LLGL2_ENST00000577200.1_Missense_Mutation_p.R601Q|LLGL2_ENST00000167462.5_Missense_Mutation_p.R601Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	601					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R601Q(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTGAGTGGCGGCTCGTGGCC	0.662																																						uc002joh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1801-1803)CGG>CAG		lethal giant larvae homolog 2 isoform c							24.0	19.0	21.0					17																	73566264		2196	4285	6481	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566264G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1802G>A	17.37:g.73566264G>A	ENSP00000376333:p.Arg601Gln					LLGL2_uc002joi.2_Missense_Mutation_p.R601Q|LLGL2_uc010dgg.1_Missense_Mutation_p.R601Q|LLGL2_uc002joj.2_Missense_Mutation_p.R590Q|LLGL2_uc010wsd.1_Missense_Mutation_p.R228Q	p.R601Q	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1956	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		601			WD 10.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1802G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709941	0.48517	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.43688	0.94;0.94	5.19	1.71	0.24356	WD40/YVTN repeat-like-containing domain (1);	0.111381	0.64402	D	0.000014	T	0.22085	0.0532	N	0.16478	0.41	0.30968	N	0.722872	B;P;D;B;B	0.53312	0.058;0.931;0.959;0.137;0.135	B;B;B;B;B	0.40165	0.027;0.171;0.321;0.027;0.012	T	0.20638	-1.0269	10	0.51188	T	0.08	-11.57	6.7788	0.23634	0.4442:0.0:0.5558:0.0	.	228;590;590;601;601	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	601;601;590	ENSP00000167462:R601Q;ENSP00000376333:R601Q	ENSP00000167462:R601Q	R	+	2	0	LLGL2	71077859	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.934000	0.56553	0.584000	0.29591	0.549000	0.68633	CGG		PASS	0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		5	6	5	6	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74387085	74387085	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:74387085A>T	ENST00000319380.7	-	18	3882	c.3818T>A	c.(3817-3819)cTg>cAg	p.L1273Q		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1273					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L1273Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GAACTGCGTCAGGACACCCCG	0.592																																						uc002jrm.3																			2	Substitution - Missense(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(3817-3819)CTG>CAG		ubiquitin-conjugating enzyme E2O							94.0	100.0	98.0					17																	74387085		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74387085A>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3818T>A	17.37:g.74387085A>T	ENSP00000323687:p.Leu1273Gln					UBE2O_uc002jrl.3_Missense_Mutation_p.L877Q	p.L1273Q	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			18	3883	-			1273					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.3818T>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	a	21.6	4.177718	0.78564	.	.	ENSG00000175931	ENST00000319380	D	0.83992	-1.79	4.59	4.59	0.56863	.	0.000000	0.53938	D	0.000049	D	0.84379	0.5459	N	0.19112	0.55	0.53688	D	0.999976	D	0.76494	0.999	D	0.85130	0.997	D	0.86984	0.2106	10	0.87932	D	0	-19.7912	14.1384	0.65303	1.0:0.0:0.0:0.0	.	1273	Q9C0C9	UBE2O_HUMAN	Q	1273	ENSP00000323687:L1273Q	ENSP00000323687:L1273Q	L	-	2	0	UBE2O	71898680	1.000000	0.71417	0.974000	0.42286	0.972000	0.66771	8.830000	0.92063	1.923000	0.55706	0.456000	0.33151	CTG		PASS	0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		4	188	4	188	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79479272	79479272	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr17:79479272G>A	ENST00000575842.1	-	1	535	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	ACTG1_ENST00000573283.1_Missense_Mutation_p.R37C|ACTG1_ENST00000575087.1_Missense_Mutation_p.R37C|RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.R37C			P63261	ACTG_HUMAN	actin, gamma 1	37					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.R37C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGTCTGGGGCGCCCGACGATG	0.672																																						uc002kaj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(109-111)CGC>TGC		actin, gamma 1 propeptide							45.0	54.0	51.0					17																	79479272		2202	4300	6502	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479272G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.109C>T	17.37:g.79479272G>A	ENSP00000458162:p.Arg37Cys					ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_5'Flank|ACTG1_uc002kak.1_Missense_Mutation_p.R37C|ACTG1_uc010wun.1_Missense_Mutation_p.R37C|ACTG1_uc002kal.1_Missense_Mutation_p.R37C|ACTG1_uc002kag.2_RNA	p.R37C	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		1	134	-	all_neural(118;0.0878)|Melanoma(429;0.242)		37					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.109C>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	G	5.414	0.261641	0.10239	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.92149	-2.98	3.75	1.76	0.24704	.	0.000000	0.64402	U	0.000002	D	0.92548	0.7633	M	0.93283	3.4	0.58432	D	0.999995	B	0.06786	0.001	B	0.04013	0.001	D	0.88512	0.3090	10	0.87932	D	0	.	8.4374	0.32795	0.1981:0.0:0.8019:0.0	.	37	P63261	ACTG_HUMAN	C	37	ENSP00000331514:R37C	ENSP00000331514:R37C	R	-	1	0	ACTG1	77093867	1.000000	0.71417	0.014000	0.15608	0.110000	0.19582	9.025000	0.93694	0.298000	0.22638	0.563000	0.77884	CGC		PASS	0.672	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		4	104	4	104	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826449	13826449	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:13826449C>T	ENST00000324750.3	+	1	907	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	229				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.R229W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAGCTCTGCGCGGCAGAGGAC	0.617																																						uc010xaf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(685-687)CGG>TGG		melanocortin 5 receptor							210.0	180.0	190.0					18																	13826449		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826449C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.685C>T	18.37:g.13826449C>T	ENSP00000318077:p.Arg229Trp						p.R229W	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	685	+			229	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.685C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	6.537	0.467256	0.12402	.	.	ENSG00000176136	ENST00000324750	T	0.46451	0.87	4.88	-0.281	0.12882	GPCR, rhodopsin-like superfamily (1);	0.237767	0.40908	N	0.000993	T	0.32315	0.0825	L	0.58669	1.825	0.29871	N	0.826788	B	0.10296	0.003	B	0.06405	0.002	T	0.17440	-1.0369	10	0.59425	D	0.04	.	4.6829	0.12743	0.2662:0.5118:0.0:0.222	.	229	P33032	MC5R_HUMAN	W	229	ENSP00000318077:R229W	ENSP00000318077:R229W	R	+	1	2	MC5R	13816449	0.680000	0.27605	0.001000	0.08648	0.007000	0.05969	0.853000	0.27777	-0.441000	0.07201	-0.680000	0.03767	CGG		PASS	0.617	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		103	151	103	151	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31325999	31325999	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:31325999A>G	ENST00000269197.5	+	12	6187	c.6187A>G	c.(6187-6189)Acc>Gcc	p.T2063A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2063					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T2063A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACCATGGAAACCACTAAGAG	0.507																																						uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6187-6189)ACC>GCC		additional sex combs like 3							61.0	60.0	60.0					18																	31325999		1868	4110	5978	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325999A>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6187A>G	18.37:g.31325999A>G	ENSP00000269197:p.Thr2063Ala					ASXL3_uc002kxq.2_Missense_Mutation_p.T1770A	p.T2063A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	6242	+			2063					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6187A>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147171	0.57151	.	.	ENSG00000141431	ENST00000269197	T	0.27402	1.67	5.09	5.09	0.68999	.	.	.	.	.	T	0.41673	0.1169	N	0.24115	0.695	0.40347	D	0.979095	D	0.63880	0.993	D	0.72625	0.978	T	0.45026	-0.9289	9	0.66056	D	0.02	.	14.8848	0.70560	1.0:0.0:0.0:0.0	.	2063	Q9C0F0	ASXL3_HUMAN	A	2063	ENSP00000269197:T2063A	ENSP00000269197:T2063A	T	+	1	0	ASXL3	29579997	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.108000	0.64609	1.921000	0.55644	0.460000	0.39030	ACC		PASS	0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			41	46	41	46	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284319	46284319	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:46284319A>T	ENST00000256413.3	+	8	909	c.614A>T	c.(613-615)aAg>aTg	p.K205M	CTIF_ENST00000382998.4_Missense_Mutation_p.K205M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	205	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.K157M(1)|p.K205M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGGGCAACAAGCCCCAACAG	0.642																																						uc002ldc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(613-615)AAG>ATG		hypothetical protein LOC9811 isoform 1							77.0	90.0	86.0					18																	46284319		2203	4300	6503	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284319A>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.614A>T	18.37:g.46284319A>T	ENSP00000256413:p.Lys205Met					KIAA0427_uc002ldd.2_Missense_Mutation_p.K205M|KIAA0427_uc002lde.3_5'Flank	p.K205M	NM_014772	NP_055587	O43310	CTIF_HUMAN			8	899	+			205			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.614A>T	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303933	0.60305	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.51574	0.7;0.7	5.46	5.46	0.80206	.	0.194504	0.44483	D	0.000457	T	0.61198	0.2328	L	0.50333	1.59	0.43745	D	0.996248	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.818	T	0.63305	-0.6667	10	0.59425	D	0.04	-10.8242	14.1027	0.65068	1.0:0.0:0.0:0.0	.	205;205	O43310-2;O43310	.;CTIF_HUMAN	M	205;205;157	ENSP00000256413:K205M;ENSP00000372459:K205M	ENSP00000256413:K205M	K	+	2	0	CTIF	44538317	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	6.668000	0.74457	2.074000	0.62210	0.459000	0.35465	AAG		PASS	0.642	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		68	92	68	92	---	---	---	---
PHLPP1	23239	broad.mit.edu	37	18	60642823	60642823	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:60642823A>G	ENST00000262719.5	+	16	4183	c.3949A>G	c.(3949-3951)Aag>Gag	p.K1317E	PHLPP1_ENST00000400316.4_Missense_Mutation_p.K805E			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1317	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.K1317E(2)|p.K804E(1)		endometrium(2)|kidney(2)|lung(13)	17						AGAAGAGCTGAAGAGGATTAA	0.507																																						uc002lis.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2413-2415)AAG>GAG		PH domain and leucine rich repeat protein							123.0	118.0	120.0					18																	60642823		1989	4176	6165	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642823A>G	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3949A>G	18.37:g.60642823A>G	ENSP00000262719:p.Lys1317Glu						p.K805E	NM_194449	NP_919431	O60346	PHLP1_HUMAN			17	2591	+			1317			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2413A>G	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	9.907	1.208585	0.22205	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.16073	2.37;2.37	4.91	4.91	0.64330	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.08313	0.0207	N	0.04820	-0.15	0.32792	N	0.501031	B	0.33777	0.425	B	0.31812	0.136	T	0.08953	-1.0697	9	0.08179	T	0.78	-17.5557	14.7047	0.69179	1.0:0.0:0.0:0.0	.	1317	O60346	PHLP1_HUMAN	E	805;1317	ENSP00000383170:K805E;ENSP00000262719:K1317E	ENSP00000262719:K1317E	K	+	1	0	PHLPP1	58793803	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.032000	0.49736	2.057000	0.61298	0.454000	0.30748	AAG		PASS	0.507	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		62	114	62	114	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343774	72343774	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:72343774A>G	ENST00000299687.5	+	1	799	c.799A>G	c.(799-801)Aca>Gca	p.T267A	ZNF407_ENST00000577538.1_Missense_Mutation_p.T267A|ZNF407_ENST00000309902.6_Missense_Mutation_p.T267A|ZNF407_ENST00000582337.1_Missense_Mutation_p.T267A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T267A(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCTTGGCAAAACACATCTCCG	0.393																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(799-801)ACA>GCA		zinc finger protein 407 isoform 1							117.0	115.0	116.0					18																	72343774		1922	4136	6058	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343774A>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.799A>G	18.37:g.72343774A>G	ENSP00000299687:p.Thr267Ala					ZNF407_uc010xfc.1_Missense_Mutation_p.T267A|ZNF407_uc010dqu.1_Missense_Mutation_p.T267A|ZNF407_uc002llu.2_Missense_Mutation_p.T266A	p.T267A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	856	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	267			C2H2-type 3.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.799A>G	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956410	0.73902	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13089	2.62;3.01	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.146153	0.25217	U	0.032280	T	0.28267	0.0698	L	0.46157	1.445	0.36543	D	0.871417	D;D;P	0.89917	0.989;1.0;0.911	P;D;P	0.85130	0.859;0.997;0.727	T	0.08391	-1.0724	10	0.62326	D	0.03	.	9.9913	0.41872	0.9243:0.0:0.0757:0.0	.	267;267;267	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	267	ENSP00000299687:T267A;ENSP00000310359:T267A	ENSP00000299687:T267A	T	+	1	0	ZNF407	70472762	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.760000	0.62235	2.644000	0.89710	0.655000	0.94253	ACA		PASS	0.393	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		46	84	46	84	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74625758	74625758	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:74625758C>T	ENST00000253159.8	+	18	3157	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	ZNF236_ENST00000320610.9_Missense_Mutation_p.R989W	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	987					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R987W(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCAGCATGTGCGGTCGCACAC	0.507																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2959-2961)CGG>TGG		zinc finger protein 236							93.0	97.0	96.0					18																	74625758		1985	4188	6173	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74625758C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2959C>T	18.37:g.74625758C>T	ENSP00000253159:p.Arg987Trp					ZNF236_uc002lmj.2_RNA	p.R987W	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	18	3157	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	987			C2H2-type 18.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2959C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775747	0.70107	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.25579	1.79;1.79	5.22	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57911	-0.7729	10	0.87932	D	0	.	15.2776	0.73753	0.1409:0.8591:0.0:0.0	.	987	Q9UL36	ZN236_HUMAN	W	987	ENSP00000253159:R987W;ENSP00000444524:R987W	ENSP00000253159:R987W	R	+	1	2	ZNF236	72754746	0.995000	0.38212	0.954000	0.39281	0.422000	0.31414	3.085000	0.50151	1.166000	0.42689	0.462000	0.41574	CGG		PASS	0.507	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			27	47	27	47	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753910	76753910	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:76753910C>A	ENST00000537592.2	+	2	1919	c.1919C>A	c.(1918-1920)tCc>tAc	p.S640Y	SALL3_ENST00000536229.3_Missense_Mutation_p.S507Y|SALL3_ENST00000575389.2_Missense_Mutation_p.S640Y	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	640					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S640Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCGCCGTCTCCGAGCAGTTC	0.682																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1918-1920)TCC>TAC		sal-like 3							13.0	14.0	13.0					18																	76753910		2186	4285	6471	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753910C>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1919C>A	18.37:g.76753910C>A	ENSP00000441823:p.Ser640Tyr					SALL3_uc010dra.2_Missense_Mutation_p.S247Y	p.S640Y	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1919	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	640					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1919C>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317635	0.05386	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.11385	2.78	5.33	3.37	0.38596	.	0.218461	0.31660	N	0.007278	T	0.33265	0.0857	M	0.83603	2.65	0.21740	N	0.999568	D;D	0.71674	0.998;0.989	D;P	0.72982	0.979;0.781	T	0.23762	-1.0179	10	0.27082	T	0.32	-13.1427	15.2994	0.73936	0.0:0.7349:0.2651:0.0	.	372;640	F5GXY4;Q9BXA9	.;SALL3_HUMAN	Y	640;640;372	ENSP00000441823:S640Y	ENSP00000299466:S640Y	S	+	2	0	SALL3	74854898	0.910000	0.30920	0.002000	0.10522	0.149000	0.21700	4.757000	0.62213	1.340000	0.45581	0.655000	0.94253	TCC		PASS	0.682	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	5	8	5	---	---	---	---
NDUFB7	4713	broad.mit.edu	37	19	14676967	14676967	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:14676967A>G	ENST00000215565.2	-	3	453	c.392T>C	c.(391-393)gTg>gCg	p.V131A		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	131					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V131A(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTGGGGTCCACTTCCCCGGG	0.632																																						uc002mzg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(391-393)GTG>GCG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						20.0	25.0	23.0					19																	14676967		2201	4296	6497	SO:0001583	missense	4713				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:14676967A>G		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.392T>C	19.37:g.14676967A>G	ENSP00000215565:p.Val131Ala						p.V131A	NM_004146	NP_004137	P17568	NDUB7_HUMAN			3	466	-			131					Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	37	c.392T>C	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.486968	0.44249	.	.	ENSG00000099795	ENST00000215565	T	0.53206	0.63	4.37	4.37	0.52481	.	0.196802	0.25222	N	0.032235	T	0.33059	0.0850	L	0.47716	1.5	0.32109	N	0.589563	P	0.46784	0.884	B	0.28709	0.093	T	0.56183	-0.8021	10	0.87932	D	0	-14.0539	10.5308	0.44975	1.0:0.0:0.0:0.0	.	131	P17568	NDUB7_HUMAN	A	131	ENSP00000215565:V131A	ENSP00000215565:V131A	V	-	2	0	NDUFB7	14537967	0.006000	0.16342	0.969000	0.41365	0.023000	0.10783	1.036000	0.30228	1.929000	0.55896	0.477000	0.44152	GTG		PASS	0.632	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		11	21	11	21	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14884813	14884813	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:14884813G>T	ENST00000315576.3	-	4	587	c.136C>A	c.(136-138)Cgc>Agc	p.R46S	EMR2_ENST00000392965.3_Missense_Mutation_p.R46S|EMR2_ENST00000392967.2_Missense_Mutation_p.R46S|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353876.1_Missense_Mutation_p.R46S|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000346057.1_Missense_Mutation_p.R46S|EMR2_ENST00000601345.1_Missense_Mutation_p.R46S|EMR2_ENST00000595839.1_Missense_Mutation_p.R46S|EMR2_ENST00000594076.1_Missense_Mutation_p.R46S|EMR2_ENST00000353005.1_Missense_Mutation_p.R46S|EMR2_ENST00000596991.2_Missense_Mutation_p.R46S|EMR2_ENST00000594294.1_Missense_Mutation_p.R46S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	46	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.R46S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGATTGCAGCGACAGGCGGTG	0.597																																						uc002mzp.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(136-138)CGC>AGC		egf-like module containing, mucin-like, hormone							129.0	117.0	121.0					19																	14884813		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14884813G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.136C>A	19.37:g.14884813G>T	ENSP00000319883:p.Arg46Ser					EMR2_uc010xnw.1_Missense_Mutation_p.R46S|EMR2_uc002mzo.1_Missense_Mutation_p.R46S|EMR2_uc002mzq.1_Missense_Mutation_p.R46S|EMR2_uc002mzr.1_Missense_Mutation_p.R46S|EMR2_uc002mzs.1_Missense_Mutation_p.R46S|EMR2_uc002mzt.1_Missense_Mutation_p.R46S|EMR2_uc002mzu.1_Missense_Mutation_p.R46S|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA	p.R46S	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			4	592	-			46			Extracellular (Potential).|EGF-like 1.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.136C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747909	0.69533	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;D	0.86432	-0.86;-0.99;-0.42;0.36;1.15;-1.15;-2.12	3.87	2.71	0.32032	.	.	.	.	.	D	0.88429	0.6434	M	0.77103	2.36	0.25260	N	0.989602	P;P;D;B;P;P;D	0.56521	0.817;0.7;0.976;0.038;0.619;0.896;0.971	B;B;P;B;P;B;P	0.52598	0.228;0.18;0.658;0.022;0.592;0.407;0.703	T	0.78365	-0.2232	9	0.20519	T	0.43	.	7.9577	0.30053	0.0:0.0:0.7556:0.2444	.	46;46;46;46;46;46;46	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	S	46	ENSP00000319883:R46S;ENSP00000376694:R46S;ENSP00000263380:R46S;ENSP00000319454:R46S;ENSP00000319838:R46S;ENSP00000376692:R46S;ENSP00000376689:R46S	ENSP00000319883:R46S	R	-	1	0	EMR2	14745813	0.137000	0.22531	1.000000	0.80357	0.294000	0.27393	0.710000	0.25748	2.106000	0.64143	0.398000	0.26397	CGC		PASS	0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			79	120	79	120	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17759744	17759744	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:17759744T>C	ENST00000519716.2	-	15	1572	c.1573A>G	c.(1573-1575)Agc>Ggc	p.S525G	UNC13A_ENST00000551649.1_Missense_Mutation_p.S525G|UNC13A_ENST00000428389.2_Missense_Mutation_p.S613G|UNC13A_ENST00000550896.1_Missense_Mutation_p.S523G|UNC13A_ENST00000552293.1_Missense_Mutation_p.S525G|UNC13A_ENST00000252773.7_Missense_Mutation_p.S525G	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	525					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.S613G(1)|p.S525G(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCAACGTGCTGGAGGCCAAG	0.607																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1837-1839)AGC>GGC		unc-13 homolog A							27.0	33.0	31.0					19																	17759744		2007	4164	6171	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17759744T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1573A>G	19.37:g.17759744T>C	ENSP00000429562:p.Ser525Gly						p.S613G	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			15	1837	-			525					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1837A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762929	0.49574	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.09	4.15	3.1	0.35709	.	0.112873	0.64402	U	0.000020	T	0.54224	0.1845	L	0.56769	1.78	0.33391	D	0.576097	B	0.12630	0.006	B	0.13407	0.009	T	0.59595	-0.7425	10	0.72032	D	0.01	-23.7145	6.9335	0.24453	0.2048:0.0:0.0:0.7952	.	525	Q9UPW8	UN13A_HUMAN	G	525;613;525;525;525;523	ENSP00000429562:S525G;ENSP00000400409:S613G;ENSP00000252773:S525G;ENSP00000447236:S525G;ENSP00000447572:S525G;ENSP00000446831:S523G	ENSP00000252773:S525G	S	-	1	0	UNC13A	17620744	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.942000	0.56614	0.539000	0.28788	0.459000	0.35465	AGC		PASS	0.607	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	11	4	11	---	---	---	---
IL12RB1	3594	broad.mit.edu	37	19	18188455	18188455	+	Silent	SNP	C	C	T	rs368411705		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:18188455C>T	ENST00000600835.2	-	6	718	c.420G>A	c.(418-420)gaG>gaA	p.E140E	IL12RB1_ENST00000322153.7_Silent_p.E140E|IL12RB1_ENST00000593993.2_Silent_p.E140E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	140					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.E140E(2)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCAGAGGAGGCTCATATTTAA	0.572																																						uc002nhw.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(418-420)GAG>GAA		interleukin 12 receptor, beta 1 isoform 1							47.0	42.0	43.0					19																	18188455		2203	4300	6503	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18188455C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.420G>A	19.37:g.18188455C>T						IL12RB1_uc010xqb.1_Silent_p.E140E|IL12RB1_uc002nhx.1_Silent_p.E180E|IL12RB1_uc002nhy.2_Silent_p.E140E	p.E140E	NM_005535	NP_005526	P42701	I12R1_HUMAN			5	484	-			140			Extracellular (Potential).		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.420G>A	CCDS54232.1																																																																																				PASS	0.572	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			11	31	11	31	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18779702	18779702	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:18779702G>A	ENST00000300976.4	+	3	1585	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	499								p.V499M(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CGAACCCCGCGTGCTACACGC	0.667																																						uc002njz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1495-1497)GTG>ATG		kelch-like 26							39.0	41.0	40.0					19																	18779702		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18779702G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1495G>A	19.37:g.18779702G>A	ENSP00000300976:p.Val499Met						p.V499M	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	1522	+			499			Kelch 4.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.1495G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040159	0.75732	.	.	ENSG00000167487	ENST00000300976	T	0.67345	-0.26	4.49	4.49	0.54785	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.64811	0.2632	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.55345	0.774	T	0.64326	-0.6434	9	.	.	.	.	16.1797	0.81890	0.0:0.0:1.0:0.0	.	499	Q53HC5	KLH26_HUMAN	M	499	ENSP00000300976:V499M	.	V	+	1	0	KLHL26	18640702	1.000000	0.71417	0.978000	0.43139	0.927000	0.56198	9.558000	0.98132	2.060000	0.61445	0.462000	0.41574	GTG		PASS	0.667	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		20	38	20	38	---	---	---	---
ZNF486	90649	broad.mit.edu	37	19	20307846	20307846	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:20307846G>A	ENST00000335117.8	+	4	384	c.327G>A	c.(325-327)ctG>ctA	p.L109L	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L100L(1)|p.L109L(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAGTGATACTGAGAAAATTTG	0.343																																						uc002nou.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(325-327)CTG>CTA		zinc finger protein 486							82.0	86.0	84.0					19																	20307846		2124	4269	6393	SO:0001819	synonymous_variant	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20307846G>A	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.327G>A	19.37:g.20307846G>A							p.L109L	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	384	+			109					Q0VG00	Silent	SNP	ENST00000335117.8	37	c.327G>A	CCDS46029.1																																																																																				PASS	0.343	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		38	67	38	67	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155843	22155843	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:22155843A>T	ENST00000397126.4	-	4	2141	c.1993T>A	c.(1993-1995)Tac>Aac	p.Y665N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y565N(2)|p.Y665N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACATTTGTAGGGCTTCTCT	0.383																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(1693-1695)TAC>AAC		zinc finger protein 208							54.0	60.0	58.0					19																	22155843		2053	4220	6273	SO:0001583	missense	7757							g.chr19:22155843A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1993T>A	19.37:g.22155843A>T	ENSP00000380315:p.Tyr665Asn					ZNF208_uc002nqo.1_Intron	p.Y565N	NM_007153	NP_009084					5	1842	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1693T>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	7.080	0.570032	0.13560	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25749	1.78	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44664	0.1304	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	8	0.87932	D	0	.	6.0365	0.19710	0.8561:0.0:0.1439:0.0	.	565	O43345	ZN208_HUMAN	N	665;565	ENSP00000380315:Y665N	ENSP00000380315:Y665N	Y	-	1	0	ZNF208	21947683	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	0.566000	0.23593	-0.032000	0.13758	0.232000	0.17820	TAC		PASS	0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		25	60	25	60	---	---	---	---
ZNF681	148213	broad.mit.edu	37	19	23938269	23938269	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:23938269T>A	ENST00000402377.3	-	2	229	c.88A>T	c.(88-90)Agg>Tgg	p.R30W	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R30W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATCACATTCCTATATAAATTC	0.373																																						uc002nrk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)AGG>TGG		zinc finger protein 681							99.0	109.0	106.0					19																	23938269		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23938269T>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.88A>T	19.37:g.23938269T>A	ENSP00000384000:p.Arg30Trp					ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank	p.R30W	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			2	230	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	30			KRAB.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.88A>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	8.760	0.923440	0.18056	.	.	ENSG00000196172	ENST00000402377	T	0.02631	4.22	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.13243	0.0321	M	0.86502	2.82	0.22656	N	0.998885	D	0.89917	1.0	D	0.87578	0.998	T	0.08229	-1.0732	9	0.62326	D	0.03	.	4.1617	0.10287	0.0:0.0:0.0:1.0	.	30	Q96N22	ZN681_HUMAN	W	30	ENSP00000384000:R30W	ENSP00000384000:R30W	R	-	1	2	ZNF681	23730109	0.130000	0.22417	0.185000	0.23176	0.181000	0.23173	-0.624000	0.05540	0.383000	0.24910	0.377000	0.23210	AGG		PASS	0.373	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		70	110	70	110	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24310244	24310244	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:24310244A>T	ENST00000357002.4	+	4	1557	c.1442A>T	c.(1441-1443)aAg>aTg	p.K481M	ZNF254_ENST00000342944.6_Missense_Mutation_p.K396M	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	481					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K481M(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACTAGACATAAGAGGATGCAC	0.383																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)AAG>ATG		zinc finger protein 254							62.0	63.0	63.0					19																	24310244		2203	4299	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310244A>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1442A>T	19.37:g.24310244A>T	ENSP00000349494:p.Lys481Met					ZNF254_uc010xrk.1_Missense_Mutation_p.K396M	p.K481M	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1576	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	481			C2H2-type 10.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1442A>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573775	0.28092	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.04454	3.62;3.62	1.07	-0.105	0.13601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.01482	-0.84	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40478	-0.9561	9	0.72032	D	0.01	.	2.7104	0.05174	0.6269:0.0:0.3731:0.0	.	481	O75437	ZN254_HUMAN	M	396;481	ENSP00000445527:K396M;ENSP00000349494:K481M	ENSP00000445527:K396M	K	+	2	0	ZNF254	24102084	0.002000	0.14202	0.054000	0.19295	0.929000	0.56500	1.160000	0.31761	0.441000	0.26529	0.248000	0.18094	AAG		PASS	0.383	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		28	40	28	40	---	---	---	---
RGS9BP	388531	broad.mit.edu	37	19	33167314	33167314	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:33167314G>A	ENST00000334176.3	+	1	1002	c.145G>A	c.(145-147)Gag>Aag	p.E49K	ANKRD27_ENST00000587352.1_5'Flank|ANKRD27_ENST00000306065.4_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	49					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)		p.E49K(1)		central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GAAGGCGCAGGAGCTGGCGGT	0.711																																						uc002ntp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(145-147)GAG>AAG		RGS9 anchor protein							12.0	12.0	12.0					19																	33167314		2158	4241	6399	SO:0001583	missense	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167314G>A	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.145G>A	19.37:g.33167314G>A	ENSP00000334134:p.Glu49Lys					ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	p.E49K	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN			1	1002	+	Esophageal squamous(110;0.137)		49			Potential.|Cytoplasmic (Potential).		Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	37	c.145G>A	CCDS12424.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384675	0.82792	.	.	ENSG00000186326	ENST00000334176	T	0.28895	1.59	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.40956	0.1138	L	0.58101	1.795	0.80722	D	1	P	0.49559	0.925	P	0.49226	0.603	T	0.23084	-1.0198	10	0.36615	T	0.2	-17.1423	17.6663	0.88203	0.0:0.0:1.0:0.0	.	49	Q6ZS82	R9BP_HUMAN	K	49	ENSP00000334134:E49K	ENSP00000334134:E49K	E	+	1	0	RGS9BP	37859154	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	9.526000	0.98042	2.392000	0.81423	0.305000	0.20034	GAG		PASS	0.711	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		3	12	3	12	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33417844	33417844	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:33417844C>A	ENST00000305768.5	-	10	1164	c.1076G>T	c.(1075-1077)tGg>tTg	p.W359L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	359					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.W359L(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ACTTACCAACCAGGGTGGTAT	0.403																																						uc002nty.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1075-1077)TGG>TTG		coiled-coil domain containing 123							64.0	60.0	62.0					19																	33417844		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33417844C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1076G>T	19.37:g.33417844C>A	ENSP00000306105:p.Trp359Leu					CCDC123_uc002ntx.2_Missense_Mutation_p.W112L|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.W359L	p.W359L	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			10	1165	-	Esophageal squamous(110;0.137)		359					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1076G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657221	0.47467	.	.	ENSG00000121289	ENST00000305768	T	0.41758	0.99	5.28	5.28	0.74379	.	0.056711	0.85682	D	0.000000	T	0.40909	0.1136	L	0.59436	1.845	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.21917	0.037;0.034	T	0.33033	-0.9884	10	0.09084	T	0.74	-9.8479	18.0616	0.89379	0.0:1.0:0.0:0.0	.	112;359	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	L	359	ENSP00000306105:W359L	ENSP00000306105:W359L	W	-	2	0	CEP89	38109684	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.970000	0.63742	2.617000	0.88574	0.603000	0.83216	TGG		PASS	0.403	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		12	24	12	24	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33628589	33628589	+	Missense_Mutation	SNP	T	T	C	rs147156559		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:33628589T>C	ENST00000355868.3	+	2	359	c.283T>C	c.(283-285)Ttt>Ctt	p.F95L	WDR88_ENST00000592765.1_Missense_Mutation_p.F95L|WDR88_ENST00000361680.2_Missense_Mutation_p.F95L	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	95								p.F95L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCAGATCCCATTTAAAATTCT	0.428													T|||	1	0.000199681	0.0	0.0	5008	,	,		16126	0.0		0.001	False		,,,				2504	0.0					uc002nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(283-285)TTT>CTT		PQQ repeat and WD repeat domain containing		T	LEU/PHE	0,4406		0,0,2203	79.0	76.0	77.0		283	4.1	1.0	19	dbSNP_134	77	5,8595	3.7+/-12.6	0,5,4295	yes	missense	WDR88	NM_173479.3	22	0,5,6498	CC,CT,TT		0.0581,0.0,0.0384	possibly-damaging	95/473	33628589	5,13001	2203	4300	6503	SO:0001583	missense	126248							g.chr19:33628589T>C	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.283T>C	19.37:g.33628589T>C	ENSP00000348129:p.Phe95Leu						p.F95L	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			2	361	+	Esophageal squamous(110;0.137)		95					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.283T>C	CCDS12429.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.320	0.824004	0.16678	0.0	5.81E-4	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.55930	0.49;0.49	5.07	4.06	0.47325	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	18.114700	0.00447	N	0.000080	T	0.22244	0.0536	N	0.00408	-1.53	0.25676	N	0.985847	B	0.15141	0.012	B	0.16722	0.016	T	0.42816	-0.9429	10	0.09338	T	0.73	.	8.1984	0.31411	0.0:0.092:0.0:0.908	.	95	Q6ZMY6	WDR88_HUMAN	L	95	ENSP00000348129:F95L;ENSP00000355148:F95L	ENSP00000348129:F95L	F	+	1	0	WDR88	38320429	0.992000	0.36948	0.997000	0.53966	0.290000	0.27261	1.547000	0.36190	0.800000	0.34041	0.454000	0.30748	TTT		PASS	0.428	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		24	52	24	52	---	---	---	---
SELV	348303	broad.mit.edu	37	19	40006578	40006578	+	Silent	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:40006578C>G	ENST00000335426.4	+	1	826	c.726C>G	c.(724-726)tcC>tcG	p.S242S	SELV_ENST00000423711.1_Silent_p.S242S	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		242					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)	p.S242S(1)		breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCCATCTCCTTACAGAATT	0.612																																						uc010xvc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)TCC>TCG		selenoprotein V							18.0	19.0	19.0					19																	40006578		1930	4132	6062	SO:0001819	synonymous_variant	348303				cell redox homeostasis		selenium binding	g.chr19:40006578C>G																												ENST00000335426.4:c.726C>G	19.37:g.40006578C>G							p.S242S	NM_182704	NP_874363	P59797	SELV_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	826	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		242					Q17RG5	Silent	SNP	ENST00000335426.4	37	c.726C>G	CCDS54266.1																																																																																				PASS	0.612	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389802.1			15	3	15	3	---	---	---	---
ERCC1	2067	broad.mit.edu	37	19	45924470	45924470	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:45924470G>A	ENST00000300853.3	-	3	878	c.287C>T	c.(286-288)gCa>gTa	p.A96V	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Missense_Mutation_p.A96V|ERCC1_ENST00000340192.7_Missense_Mutation_p.A96V|ERCC1_ENST00000013807.5_Missense_Mutation_p.A96V|ERCC1_ENST00000591636.1_Missense_Mutation_p.A96V	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	96					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.A96V(2)|p.A96E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GTTGGATTTTGCCCCGGGTTT	0.607								Nucleotide excision repair (NER)																														uc002pbs.1																			3	Substitution - Missense(3)		lung(2)|skin(1)	ovary(2)	2						c.(286-288)GCA>GTA	NER	excision repair cross-complementing 1 isofrom 2							96.0	81.0	86.0					19																	45924470		2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45924470G>A		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.287C>T	19.37:g.45924470G>A	ENSP00000300853:p.Ala96Val					ERCC1_uc002pbt.1_Missense_Mutation_p.A96V|ERCC1_uc002pbu.1_Intron|ERCC1_uc002pbv.2_Missense_Mutation_p.A96V	p.A96V	NM_001983	NP_001974	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	3	433	-		Ovarian(192;0.051)|all_neural(266;0.112)	96					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.287C>T	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192248	0.38707	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.45668	0.9;0.89;0.89	4.95	4.95	0.65309	.	0.463554	0.23003	N	0.053043	T	0.31389	0.0795	L	0.27053	0.805	0.09310	N	1	B;B;B	0.19706	0.024;0.038;0.008	B;B;B	0.13407	0.009;0.006;0.003	T	0.18053	-1.0349	10	0.42905	T	0.14	-0.2004	13.6806	0.62481	0.0:0.0:1.0:0.0	.	96;96;96	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	V	96	ENSP00000300853:A96V;ENSP00000345203:A96V;ENSP00000013807:A96V	ENSP00000013807:A96V	A	-	2	0	ERCC1	50616310	0.195000	0.23338	0.081000	0.20488	0.784000	0.44337	3.880000	0.56145	2.292000	0.77174	0.491000	0.48974	GCA		PASS	0.607	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		69	17	69	17	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628948	51628948	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:51628948G>A	ENST00000250360.3	+	2	583	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SIGLEC9_ENST00000440804.3_Silent_p.Q172Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.Q172Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTGTGAGCAGGGGACACCCC	0.667																																						uc002pvu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(514-516)CAG>CAA		sialic acid binding Ig-like lectin 9 precursor							95.0	96.0	96.0					19																	51628948		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628948G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.516G>A	19.37:g.51628948G>A						SIGLEC9_uc010yct.1_Silent_p.Q172Q	p.Q172Q	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	2	583	+		all_neural(266;0.0529)	172			Extracellular (Potential).|Ig-like C2-type 1.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.516G>A	CCDS12825.1																																																																																				PASS	0.667	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		4	99	4	99	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175283	57175283	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr19:57175283G>T	ENST00000537055.2	-	2	1515	c.1284C>A	c.(1282-1284)agC>agA	p.S428R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	428					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)	p.S450R(1)		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						AGGAGCCCTGGCTGAAAGCTT	0.672																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(1348-1350)AGC>AGA		zinc finger protein 835							37.0	40.0	39.0					19																	57175283		2194	4299	6493	SO:0001583	missense	90485							g.chr19:57175283G>T	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.1284C>A	19.37:g.57175283G>T	ENSP00000444747:p.Ser428Arg					ZNF835_uc010ygn.1_Missense_Mutation_p.S428R	p.S450R	NM_001005850	NP_001005850					2	1350	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1350C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	9.013	0.983037	0.18889	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	1.83	0.779	0.18550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.11313	0.125	0.23677	N	0.997133	P	0.50272	0.933	P	0.46339	0.513	T	0.36744	-0.9735	9	0.27785	T	0.31	.	4.2946	0.10895	0.5135:0.0:0.4865:0.0	.	450	Q9Y2P0	ZN835_HUMAN	R	450;428	ENSP00000444747:S428R	ENSP00000341756:S450R	S	-	3	2	ZNF835	61867095	0.000000	0.05858	0.201000	0.23476	0.202000	0.24057	-2.244000	0.01193	0.318000	0.23185	0.561000	0.74099	AGC		PASS	0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		42	11	42	11	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9404577	9404577	+	Silent	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:9404577A>G	ENST00000378493.1	+	24	2481	c.2466A>G	c.(2464-2466)acA>acG	p.T822T	PLCB4_ENST00000378501.2_Silent_p.T822T|PLCB4_ENST00000278655.4_Silent_p.T822T|PLCB4_ENST00000378473.3_Silent_p.T834T|PLCB4_ENST00000334005.3_Silent_p.T822T|PLCB4_ENST00000414679.2_Silent_p.T834T|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	822					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T822T(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTCTTAAAACATATGTGCCTG	0.363																																						uc002wnf.2																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2464-2466)ACA>ACG		phospholipase C beta 4 isoform b							68.0	63.0	64.0					20																	9404577		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9404577A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2466A>G	20.37:g.9404577A>G						PLCB4_uc010gbw.1_Silent_p.T822T|PLCB4_uc010gbx.2_Silent_p.T834T|PLCB4_uc002wne.2_Silent_p.T822T|PLCB4_uc002wnh.2_Silent_p.T669T	p.T822T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			26	2602	+			822					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.2466A>G	CCDS13105.1																																																																																				PASS	0.363	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	36	16	36	---	---	---	---
ZNF133	7692	broad.mit.edu	37	20	18296189	18296189	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:18296189C>A	ENST00000316358.4	+	4	791	c.694C>A	c.(694-696)Cac>Aac	p.H232N	ZNF133_ENST00000538547.1_Missense_Mutation_p.H137N|ZNF133_ENST00000377671.3_Missense_Mutation_p.H231N|ZNF133_ENST00000535822.1_Missense_Mutation_p.H137N|ZNF133_ENST00000402618.2_Missense_Mutation_p.H169N|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.H235N|ZNF133_ENST00000401790.1_Missense_Mutation_p.H232N	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	232					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)	p.H231N(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCTGCTCAGTCACCAGCGGAT	0.502																																						uc010gcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(694-696)CAC>AAC		zinc finger protein 133							55.0	57.0	56.0					20																	18296189		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296189C>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.694C>A	20.37:g.18296189C>A	ENSP00000346090:p.His232Asn					ZNF133_uc010zrv.1_Missense_Mutation_p.H235N|ZNF133_uc010zrw.1_Missense_Mutation_p.H169N|ZNF133_uc010gcr.2_Missense_Mutation_p.H232N|ZNF133_uc010zrx.1_Missense_Mutation_p.H137N|ZNF133_uc002wql.3_Missense_Mutation_p.H231N|ZNF133_uc010gcs.2_Missense_Mutation_p.H231N|ZNF133_uc010zry.1_Missense_Mutation_p.H137N|ZNF133_uc002wqm.2_Missense_Mutation_p.H232N	p.H232N	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	999	+			232			C2H2-type 1.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.694C>A		.	.	.	.	.	.	.	.	.	.	C	19.03	3.748161	0.69533	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000144	D	0.94089	0.8105	M	0.93420	3.415	0.42293	D	0.992145	B;P;B;P	0.51537	0.336;0.946;0.239;0.718	B;P;B;B	0.59703	0.179;0.862;0.226;0.338	D	0.95403	0.8491	10	0.87932	D	0	-16.322	14.8367	0.70190	0.0:1.0:0.0:0.0	.	169;235;232;231	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	N	231;235;169;232;137;137;232	ENSP00000366899:H231N;ENSP00000400897:H235N;ENSP00000385279:H169N;ENSP00000383945:H232N;ENSP00000442978:H137N;ENSP00000439427:H137N;ENSP00000346090:H232N	ENSP00000346090:H232N	H	+	1	0	ZNF133	18244189	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.495000	0.66912	2.636000	0.89361	0.313000	0.20887	CAC		PASS	0.502	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		44	49	44	49	---	---	---	---
DZANK1	55184	broad.mit.edu	37	20	18395156	18395156	+	Splice_Site	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:18395156G>T	ENST00000358866.6	-	11	1100	c.1078C>A	c.(1078-1080)Ctc>Atc	p.L360I	DZANK1_ENST00000262547.5_Splice_Site_p.L360I|DZANK1_ENST00000357236.4_Splice_Site_p.L246I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000329494.5_Splice_Site_p.L362I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	360							zinc ion binding (GO:0008270)	p.L360I(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GGAATGCCGAGCTAGAGGATA	0.423																																						uc010zsa.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1135-1137)CTC>ATC		hypothetical protein LOC55184							18.0	19.0	19.0					20																	18395156		1882	4095	5977	SO:0001630	splice_region_variant	55184					intracellular	zinc ion binding	g.chr20:18395156G>T	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1078-1C>A	20.37:g.18395156G>T						C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Missense_Mutation_p.L70I|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.L246I|C20orf12_uc002wqq.3_Missense_Mutation_p.L360I|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	p.L379I	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			12	1344	-		Myeloproliferative disorder(85;0.0122)	187					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	c.1135C>A	CCDS46582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.010552|2.010552	0.35511|0.35511	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000358866|ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	.|T;T;T;T	.|0.65916	.|-0.16;-0.18;0.45;-0.17	5.94|5.94	3.96|3.96	0.45880|0.45880	.|.	.|0.400510	.|0.33040	.|N	.|0.005355	.|T	.|0.53400	.|0.1794	M|M	0.61703|0.61703	1.905|1.905	0.25566|0.25566	N|N	0.986949|0.986949	.|P;P;B;B	.|0.38827	.|0.555;0.649;0.126;0.238	.|B;B;B;B	.|0.36567	.|0.17;0.228;0.033;0.077	.|T	.|0.44483	.|-0.9325	.|10	.|0.27785	.|T	.|0.31	-0.7403|-0.7403	7.2056|7.2056	0.25905|0.25905	0.0671:0.1251:0.6779:0.1298|0.0671:0.1251:0.6779:0.1298	.|.	.|379;246;360;145	.|B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0	.|.;.;DZAN1_HUMAN;.	X|I	158|187;360;362;186;145;246	.|ENSP00000366857:L187I;ENSP00000262547:L360I;ENSP00000328866:L362I;ENSP00000349774:L246I	.|ENSP00000262547:L360I	C|L	-|-	3|1	2|0	C20orf12|C20orf12	18343156|18343156	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.960000|0.960000	0.62799|0.62799	2.193000|2.193000	0.42658|0.42658	0.816000|0.816000	0.34421|0.34421	0.563000|0.563000	0.77884|0.77884	TGC|CTC		PASS	0.423	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	Missense_Mutation	10	7	10	7	---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	45000526	45000526	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:45000526C>A	ENST00000290246.6	-	17	1693	c.1499G>T	c.(1498-1500)cGt>cTt	p.R500L	ELMO2_ENST00000352077.2_Missense_Mutation_p.R498L|ELMO2_ENST00000445496.2_Missense_Mutation_p.R317L|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000396391.1_Missense_Mutation_p.R500L|ELMO2_ENST00000372176.1_Missense_Mutation_p.R412L|ELMO2_ENST00000454865.2_Missense_Mutation_p.R232L|ELMO2_ENST00000439931.2_Missense_Mutation_p.R512L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	500					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)	p.R500L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ACTCAGGCTACGCAATTTGCT	0.502																																						uc002xrt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1498-1500)CGT>CTT		engulfment and cell motility 2							85.0	81.0	82.0					20																	45000526		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000526C>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1499G>T	20.37:g.45000526C>A	ENSP00000290246:p.Arg500Leu					ELMO2_uc010zxq.1_Missense_Mutation_p.R232L|ELMO2_uc002xrs.1_Missense_Mutation_p.R247L|ELMO2_uc002xru.1_Missense_Mutation_p.R500L|ELMO2_uc010zxr.1_Missense_Mutation_p.R512L|ELMO2_uc010zxs.1_Missense_Mutation_p.R317L|ELMO2_uc002xrv.1_Missense_Mutation_p.R219L	p.R500L	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			17	1709	-		Myeloproliferative disorder(115;0.0122)	500					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1499G>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970397	0.53614	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.42900	2.54;2.28;0.96;2.54;2.54;1.95;1.96;2.54	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.38531	1.155	0.80722	D	1	B;B;B;B	0.20261	0.005;0.043;0.017;0.005	B;B;B;B	0.24155	0.014;0.051;0.006;0.014	T	0.23440	-1.0188	10	0.51188	T	0.08	-11.1165	16.9137	0.86146	0.0:1.0:0.0:0.0	.	512;232;317;500	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	L	500;412;67;500;512;317;232;498	ENSP00000290246:R500L;ENSP00000361249:R412L;ENSP00000414329:R67L;ENSP00000379673:R500L;ENSP00000396519:R512L;ENSP00000409920:R317L;ENSP00000415641:R232L;ENSP00000326172:R498L	ENSP00000290246:R500L	R	-	2	0	ELMO2	44433933	0.998000	0.40836	0.960000	0.40013	0.996000	0.88848	3.876000	0.56115	2.523000	0.85059	0.655000	0.94253	CGT		PASS	0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		3	99	3	99	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49224934	49224934	+	Silent	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:49224934C>T	ENST00000327979.2	-	11	1347	c.936G>A	c.(934-936)gtG>gtA	p.V312V	FAM65C_ENST00000535356.1_Silent_p.V316V|FAM65C_ENST00000045083.2_Silent_p.V312V			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	312								p.V312V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTTCCACTGCACCTCCAGCT	0.652																																						uc002xvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(934-936)GTG>GTA		hypothetical protein LOC140876							72.0	63.0	66.0					20																	49224934		2203	4300	6503	SO:0001819	synonymous_variant	140876							g.chr20:49224934C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.936G>A	20.37:g.49224934C>T						FAM65C_uc010zyt.1_Silent_p.V316V|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.V312V	p.V312V	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			11	1254	-			312					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.936G>A	CCDS13431.2																																																																																				PASS	0.652	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			17	42	17	42	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57480498	57480498	+	Missense_Mutation	SNP	C	C	T	rs137854532		TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr20:57480498C>T	ENST00000371085.3	+	6	917	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	GNAS_ENST00000306090.10_Missense_Mutation_p.R151C|GNAS_ENST00000265620.7_Missense_Mutation_p.R150C|GNAS_ENST00000371102.4_Missense_Mutation_p.R794C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R808C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R166C|GNAS_ENST00000371095.3_Missense_Mutation_p.R151C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	165			R -> C (in AHO). {ECO:0000269|PubMed:8388883}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R165C(1)|p.R808C(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTGCTACGAACGCTCCAACGA	0.468			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - Missense(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	GRCh37	CM930348	GNAS	M	rs137854532	c.(2422-2424)CGC>TGC		GNAS complex locus XLas							127.0	116.0	120.0					20																	57480498		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57480498C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.493C>T	20.37:g.57480498C>T	ENSP00000360126:p.Arg165Cys	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R106C|GNAS_uc002xzx.2_Missense_Mutation_p.R106C|GNAS_uc010gjr.2_Missense_Mutation_p.R56C|GNAS_uc002xzy.2_Missense_Mutation_p.R91C|GNAS_uc002yaa.2_Missense_Mutation_p.R151C|GNAS_uc010zzt.1_Missense_Mutation_p.R166C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R56C|GNAS_uc002yae.2_Missense_Mutation_p.R90C	p.R808C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		6	2707	+	all_lung(29;0.0104)		165		R -> C (in AHO).			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2422C>T	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.336990|4.336990	0.81801|0.81801	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000349036;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090|ENST00000450130	D;D;D;D;D;D;D;D|.	0.98455|.	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-2.68;-4.94|.	5.93|5.93	4.93|4.93	0.64822|0.64822	G protein alpha subunit, helical insertion (4);|.	0.046193|.	0.85682|.	D|.	0.000000|.	D|D	0.86100|0.86100	0.5852|0.5852	H|H	0.96015|0.96015	3.755|3.755	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|.	0.91635|.	0.999;0.999;0.999;0.999|.	D|D	0.88822|0.88822	0.3299|0.3299	10|5	0.87932|.	D|.	0|.	.|.	11.2577|11.2577	0.49063|0.49063	0.341:0.659:0.0:0.0|0.341:0.659:0.0:0.0	.|.	165;166;150;808|.	P63092;A6NI00;P63092-3;Q5JWF2|.	GNAS2_HUMAN;.;.;GNAS1_HUMAN|.	C|M	808;794;182;151;165;166;150;151|179	ENSP00000360141:R808C;ENSP00000360143:R794C;ENSP00000265621:R182C;ENSP00000360136:R151C;ENSP00000360126:R165C;ENSP00000346328:R166C;ENSP00000265620:R150C;ENSP00000304472:R151C|.	ENSP00000265620:R150C|.	R|T	+|+	1|2	0|0	GNAS|GNAS	56913893|56913893	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	4.746000|4.746000	0.62133|0.62133	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	CGC|ACG		PASS	0.468	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		8	105	8	105	---	---	---	---
SON	6651	broad.mit.edu	37	21	34923873	34923873	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr21:34923873G>C	ENST00000356577.4	+	3	2811	c.2336G>C	c.(2335-2337)aGc>aCc	p.S779T	SON_ENST00000290239.6_Missense_Mutation_p.S779T|SON_ENST00000300278.4_Missense_Mutation_p.S779T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S779T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	779	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S779T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAGCAACTAGCTCCATGGAC	0.507																																						uc002yse.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2335-2337)AGC>ACC		SON DNA-binding protein isoform F							187.0	181.0	183.0					21																	34923873		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923873G>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2336G>C	21.37:g.34923873G>C	ENSP00000348984:p.Ser779Thr					SON_uc002ysb.1_Missense_Mutation_p.S779T|SON_uc002ysc.2_Missense_Mutation_p.S779T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.S779T	NM_138927	NP_620305	P18583	SON_HUMAN			3	2385	+			779			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2336G>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324020	0.24080	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.35	4.27	0.50696	.	0.109676	0.41294	D	0.000911	T	0.80248	0.4588	L	0.58101	1.795	0.24376	N	0.994816	P;P;B	0.50943	0.9;0.94;0.215	P;P;B	0.53062	0.525;0.717;0.254	T	0.69420	-0.5150	10	0.22109	T	0.4	.	7.6476	0.28329	0.1:0.1714:0.7285:0.0	.	779;779;779	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	T	779	ENSP00000348984:S779T;ENSP00000290239:S779T;ENSP00000300278:S779T;ENSP00000371095:S779T	ENSP00000290239:S779T	S	+	2	0	SON	33845743	0.000000	0.05858	0.998000	0.56505	0.968000	0.65278	0.468000	0.22051	2.532000	0.85374	0.551000	0.68910	AGC		PASS	0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		15	194	15	194	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45513965	45513965	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr21:45513965G>T	ENST00000291574.4	+	20	3194	c.3019G>T	c.(3019-3021)Gtg>Ttg	p.V1007L	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1007					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V1007L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542																																						uc002zea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3019-3021)GTG>TTG		trafficking protein particle complex 10							147.0	130.0	136.0					21																	45513965		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45513965G>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3019G>T	21.37:g.45513965G>T	ENSP00000291574:p.Val1007Leu					TRAPPC10_uc010gpo.2_Missense_Mutation_p.V718L|TRAPPC10_uc011afa.1_Missense_Mutation_p.V385L|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112L	p.V1007L	NM_003274	NP_003265	P48553	TPC10_HUMAN			20	3188	+			1007					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3019G>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589086	0.28357	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.27720	1.65	5.11	4.22	0.49857	.	0.148349	0.46442	D	0.000294	T	0.21267	0.0512	L	0.34521	1.04	0.46609	D	0.999121	B;B;B	0.30511	0.282;0.016;0.008	B;B;B	0.28784	0.094;0.01;0.01	T	0.05131	-1.0904	10	0.34782	T	0.22	.	8.6692	0.34140	0.0822:0.2892:0.6285:0.0	.	112;266;1007	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	L	1007;138	ENSP00000291574:V1007L	ENSP00000291574:V1007L	V	+	1	0	TRAPPC10	44338393	0.988000	0.35896	0.942000	0.38095	0.914000	0.54420	2.057000	0.41365	1.274000	0.44362	-0.150000	0.13652	GTG		PASS	0.542	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		14	94	14	94	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22890661	22890661	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:22890661C>A	ENST00000398741.1	-	6	1664	c.1358G>T	c.(1357-1359)gGt>gTt	p.G453V	PRAME_ENST00000405655.3_Missense_Mutation_p.G453V|PRAME_ENST00000402697.1_Missense_Mutation_p.G453V|PRAME_ENST00000398743.2_Missense_Mutation_p.G453V|PRAME_ENST00000539862.1_Missense_Mutation_p.G437V|PRAME_ENST00000424204.2_Missense_Mutation_p.G437V|PRAME_ENST00000543184.1_Missense_Mutation_p.G453V|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	453	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.G453V(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTGGAGGGTACCATGGATGTC	0.587																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1357-1359)GGT>GTT		preferentially expressed antigen in melanoma							99.0	84.0	89.0					22																	22890661		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22890661C>A	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1358G>T	22.37:g.22890661C>A	ENSP00000381726:p.Gly453Val					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.G437V|PRAME_uc010gtr.2_Missense_Mutation_p.G453V|PRAME_uc002zwg.2_Missense_Mutation_p.G453V|PRAME_uc002zwh.2_Missense_Mutation_p.G453V|PRAME_uc002zwi.2_Missense_Mutation_p.G453V|PRAME_uc002zwj.2_Missense_Mutation_p.G453V|PRAME_uc002zwk.2_Missense_Mutation_p.G453V	p.G453V	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1514	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	453			Mediates interaction with RARA.		B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.1358G>T	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381512	0.24944	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	3.52	2.49	0.30216	.	0.279358	0.31071	N	0.008313	T	0.66934	0.2840	M	0.84433	2.695	0.19300	N	0.999975	D	0.76494	0.999	D	0.83275	0.996	T	0.56068	-0.8040	10	0.49607	T	0.09	.	8.9988	0.36069	0.0:0.8853:0.0:0.1147	.	453	P78395	PRAME_HUMAN	V	453;453;453;453;437;453;437	ENSP00000381728:G453V;ENSP00000445675:G453V;ENSP00000381726:G453V;ENSP00000384343:G453V;ENSP00000445097:G437V;ENSP00000385198:G453V;ENSP00000407342:G437V	ENSP00000381726:G453V	G	-	2	0	PRAME	21220661	0.048000	0.20356	0.005000	0.12908	0.003000	0.03518	1.096000	0.30976	1.049000	0.40321	0.643000	0.83706	GGT		PASS	0.587	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		30	52	30	52	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688413	26688413	+	Missense_Mutation	SNP	C	C	A	rs140163670	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:26688413C>A	ENST00000248933.6	+	2	231	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	SEZ6L_ENST00000343706.4_Missense_Mutation_p.L46I|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.L46I|SEZ6L_ENST00000360929.3_Missense_Mutation_p.L46I|SEZ6L_ENST00000529632.2_Missense_Mutation_p.L46I			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	46					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.L46I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGGTCCTTACCTCCTGCCCTC	0.572																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(136-138)CTC>ATC		seizure related 6 homolog (mouse)-like							50.0	42.0	44.0					22																	26688413		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688413C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.136C>A	22.37:g.26688413C>A	ENSP00000248933:p.Leu46Ile					SEZ6L_uc003acc.2_Missense_Mutation_p.L46I|SEZ6L_uc011akc.1_Missense_Mutation_p.L46I|SEZ6L_uc003acd.2_Missense_Mutation_p.L46I|SEZ6L_uc011akd.1_Missense_Mutation_p.L46I|SEZ6L_uc003ace.2_Missense_Mutation_p.L46I|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	p.L46I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			2	292	+			46			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.136C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462569	0.43736	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	3.98	2.93	0.34026	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.80722	D	1	P;P;B;P;P;P	0.44816	0.487;0.487;0.078;0.844;0.487;0.487	B;B;B;B;B;B	0.40940	0.093;0.093;0.025;0.344;0.093;0.093	T	0.04078	-1.0979	9	0.40728	T	0.16	.	9.7034	0.40200	0.0:0.8959:0.0:0.1041	.	46;46;46;46;46;46	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	I	46	ENSP00000384772:L46I;ENSP00000437037:L46I;ENSP00000354185:L46I;ENSP00000248933:L46I;ENSP00000342661:L46I	ENSP00000248933:L46I	L	+	1	0	SEZ6L	25018413	0.000000	0.05858	0.895000	0.35142	0.258000	0.26162	0.230000	0.17852	0.965000	0.38133	0.508000	0.49915	CTC		PASS	0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			18	18	18	18	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28192792	28192792	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:28192792G>A	ENST00000302326.4	-	1	4694	c.3740C>T	c.(3739-3741)cCc>cTc	p.P1247L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1247					intramembranous ossification (GO:0001957)			p.P1247L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CTTCTCCCAGGGCGCCAACGT	0.617			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3739-3741)CCC>CTC		meningioma  1							96.0	102.0	100.0					22																	28192792		2124	4219	6343	SO:0001583	missense	4330						binding	g.chr22:28192792G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3740C>T	22.37:g.28192792G>A	ENSP00000304956:p.Pro1247Leu						p.P1247L	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	4695	-			1247					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.3740C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743522	0.49151	.	.	ENSG00000169184	ENST00000302326	T	0.48201	0.82	4.91	3.89	0.44902	.	0.141584	0.46758	D	0.000270	T	0.32526	0.0832	N	0.19112	0.55	0.45129	D	0.998148	B	0.10296	0.003	B	0.09377	0.004	T	0.07654	-1.0761	10	0.39692	T	0.17	-12.3424	12.4468	0.55654	0.0813:0.0:0.9187:0.0	.	1247	Q10571	MN1_HUMAN	L	1247	ENSP00000304956:P1247L	ENSP00000304956:P1247L	P	-	2	0	MN1	26522792	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	4.938000	0.63519	1.076000	0.40961	0.306000	0.20318	CCC		PASS	0.617	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		69	97	69	97	---	---	---	---
APOL6	80830	broad.mit.edu	37	22	36054912	36054912	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:36054912G>A	ENST00000409652.4	+	3	577	c.301G>A	c.(301-303)Gca>Aca	p.A101T		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	101					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.A101T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CCTTGCCCCAGCAACAGGAGG	0.557																																						uc003aoe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GCA>ACA		apolipoprotein L6							73.0	68.0	69.0					22																	36054912		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36054912G>A	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.301G>A	22.37:g.36054912G>A	ENSP00000386280:p.Ala101Thr					APOL6_uc003aod.2_RNA	p.A101T	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	595	+			101					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.301G>A	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550610	0.27739	.	.	ENSG00000221963	ENST00000409652	T	0.03301	3.98	4.14	2.03	0.26663	.	0.804514	0.10830	N	0.629415	T	0.04363	0.0120	L	0.55834	1.745	0.09310	N	1	P	0.35363	0.497	B	0.32465	0.146	T	0.39231	-0.9624	10	0.39692	T	0.17	2.409	6.0016	0.19523	0.3265:0.0:0.6735:0.0	.	101	Q9BWW8	APOL6_HUMAN	T	101	ENSP00000386280:A101T	ENSP00000386280:A101T	A	+	1	0	APOL6	34384858	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.123000	0.15708	0.518000	0.28383	-0.136000	0.14681	GCA		PASS	0.557	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		18	32	18	32	---	---	---	---
CYB5R3	1727	broad.mit.edu	37	22	43023325	43023325	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:43023325C>A	ENST00000352397.5	-	7	870	c.618G>T	c.(616-618)ctG>ctT	p.L206L	CYB5R3_ENST00000396303.3_Silent_p.L183L|CYB5R3_ENST00000407332.1_Silent_p.L183L|CYB5R3_ENST00000402438.1_Silent_p.L183L|CYB5R3_ENST00000407623.3_Silent_p.L183L|CYB5R3_ENST00000361740.4_Silent_p.L239L	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	206					blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)	p.L239L(1)|p.L183L(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	TGGCAAAGAGCAGGTGGCACA	0.612																																						uc003bcz.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(616-618)CTG>CTT		cytochrome b5 reductase 3 isoform m	NADH(DB00157)						81.0	59.0	67.0					22																	43023325		2203	4300	6503	SO:0001819	synonymous_variant	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43023325C>A	M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.618G>T	22.37:g.43023325C>A						CYB5R3_uc010gzc.1_Silent_p.L80L|CYB5R3_uc003bcw.2_Silent_p.L196L|CYB5R3_uc011aps.1_Silent_p.L239L|CYB5R3_uc003bcy.2_Silent_p.L183L|CYB5R3_uc003bcx.2_Silent_p.L183L	p.L206L	NM_000398	NP_000389	P00387	NB5R3_HUMAN			7	702	-			206			FAD (By similarity).		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Silent	SNP	ENST00000352397.5	37	c.618G>T	CCDS33658.1																																																																																				PASS	0.612	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			11	29	11	29	---	---	---	---
GRAMD4	23151	broad.mit.edu	37	22	47069654	47069654	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr22:47069654A>T	ENST00000406902.1	+	15	1540	c.1327A>T	c.(1327-1329)Aag>Tag	p.K443*	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Nonsense_Mutation_p.K443*			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	443					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K443*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCACAGCACCAAGAAGGGCAA	0.622																																						uc003bhx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1327-1329)AAG>TAG		death-inducing-protein							111.0	118.0	116.0					22																	47069654		2203	4300	6503	SO:0001587	stop_gained	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47069654A>T		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1327A>T	22.37:g.47069654A>T	ENSP00000385689:p.Lys443*					GRAMD4_uc010had.2_Nonsense_Mutation_p.K382*|GRAMD4_uc003bhy.2_5'Flank	p.K443*	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	14	1366	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	443					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Nonsense_Mutation	SNP	ENST00000406902.1	37	c.1327A>T	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	a	41	9.081169	0.99059	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.6499	13.4765	0.61312	1.0:0.0:0.0:0.0	.	.	.	.	X	443	.	ENSP00000354313:K443X	K	+	1	0	GRAMD4	45448318	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.014000	0.88676	1.862000	0.54008	0.260000	0.18958	AAG		PASS	0.622	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		66	110	66	110	---	---	---	---
AKAP17A	8227	broad.mit.edu	37	X	1720006	1720006	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:1720006G>T	ENST00000313871.3	+	5	1803	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	536					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.G536V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CCCGAGGATGGCTCTCCAGAG	0.642																																						uc004cqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1606-1608)GGC>GTC		DNA segment on chromosome X and Y (unique) 155							61.0	61.0	61.0					X																	1720006		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1720006G>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1607G>T	X.37:g.1720006G>T	ENSP00000324827:p.Gly536Val					SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.G536V	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1803	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	536					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1607G>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	10.08	1.251809	0.22880	.	.	ENSG00000197976	ENST00000313871	T	0.44083	0.93	1.41	1.41	0.22369	.	0.646159	0.12548	U	0.459318	T	0.46132	0.1377	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.25152	-1.0140	9	0.30854	T	0.27	.	3.9996	0.09574	0.1609:0.2435:0.5957:0.0	.	536	Q02040	AK17A_HUMAN	V	536	ENSP00000324827:G536V	ENSP00000324827:G536V	G	+	2	0	AKAP17A	1680006	0.001000	0.12720	0.313000	0.25210	0.299000	0.27559	0.406000	0.21032	0.367000	0.24454	0.367000	0.22151	GGC		PASS	0.642	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		16	18	16	18	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55650591	55650591	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:55650591C>A	ENST00000339140.3	+	1	759	c.447C>A	c.(445-447)ccC>ccA	p.P149P		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	149					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P149P(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCCATTCCCCCAGTGACTTTG	0.502																																						uc004duo.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(1)	3						c.(445-447)CCC>CCA		forkhead box R2							69.0	61.0	64.0					X																	55650591		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|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.chrX:55650591C>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.447C>A	X.37:g.55650591C>A							p.P149P	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			1	759	+			149						Silent	SNP	ENST00000339140.3	37	c.447C>A	CCDS35308.1																																																																																				PASS	0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		26	21	26	21	---	---	---	---
AMER1	139285	broad.mit.edu	37	X	63412728	63412728	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:63412728C>A	ENST00000330258.3	-	2	711	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L	AMER1_ENST00000374869.3_Missense_Mutation_p.V147L|AMER1_ENST00000403336.1_Missense_Mutation_p.V147L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	147					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.V147L(2)|p.V147fs*11(1)									GCTCCAGCCACAGATGTCTTA	0.532																																						uc004dvo.2																			70	Whole gene deletion(67)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.0?(40)|p.V147fs*11(1)	kidney(66)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(439-441)GTG>TTG		family with sequence similarity 123B							33.0	35.0	35.0					X																	63412728		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412728C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.439G>T	X.37:g.63412728C>A	ENSP00000329117:p.Val147Leu						p.V147L	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	712	-			147					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.439G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	0.585	-0.835631	0.02713	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.17528	2.27;2.27;2.27	5.03	-1.32	0.09201	.	1.662350	0.02648	N	0.106125	T	0.13157	0.0319	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16689	-1.0394	10	0.09590	T	0.72	0.5034	1.7464	0.02963	0.1191:0.2088:0.3283:0.3438	.	147	Q5JTC6	F123B_HUMAN	L	147	ENSP00000364003:V147L;ENSP00000329117:V147L;ENSP00000384722:V147L	ENSP00000329117:V147L	V	-	1	0	FAM123B	63329453	0.085000	0.21516	0.003000	0.11579	0.067000	0.16453	0.360000	0.20250	-0.227000	0.09884	-0.192000	0.12808	GTG		PASS	0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		29	53	29	53	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65409596	65409596	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:65409596C>A	ENST00000343002.2	+	5	1543	c.879C>A	c.(877-879)caC>caA	p.H293Q	HEPH_ENST00000374727.3_Missense_Mutation_p.H296Q|HEPH_ENST00000336279.5_Missense_Mutation_p.H26Q|HEPH_ENST00000441993.2_Missense_Mutation_p.H296Q|HEPH_ENST00000419594.1_Missense_Mutation_p.H296Q|HEPH_ENST00000519389.1_Missense_Mutation_p.H347Q			Q9BQS7	HEPH_HUMAN	hephaestin	293	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.H293Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGCCTGGCACTTGTTTGGCA	0.443																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(886-888)CAC>CAA		hephaestin isoform a							179.0	141.0	154.0					X																	65409596		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409596C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.879C>A	X.37:g.65409596C>A	ENSP00000343939:p.His293Gln					HEPH_uc004dwn.2_Missense_Mutation_p.H296Q|HEPH_uc004dwo.2_Missense_Mutation_p.H26Q|HEPH_uc010nkr.2_Missense_Mutation_p.H296Q|HEPH_uc011mpa.1_Missense_Mutation_p.H296Q	p.H296Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			6	948	+			293			Extracellular (Potential).|Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.888C>A		.	.	.	.	.	.	.	.	.	.	C	15.77	2.930867	0.52866	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99809	-6.86;-6.86;-6.86;-6.86;-6.86;-6.86;-6.86	4.9	1.65	0.23941	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.95187	3.635	0.32589	N	0.527404	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.72075	0.976;0.855;0.976	D	0.97291	0.9924	10	0.87932	D	0	.	8.6575	0.34073	0.0:0.6057:0.0:0.3943	.	347;296;293	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	Q	347;296;26;296;296;293;293	ENSP00000430620:H347Q;ENSP00000363859:H296Q;ENSP00000337418:H26Q;ENSP00000411687:H296Q;ENSP00000413211:H296Q;ENSP00000343939:H293Q;ENSP00000398078:H293Q	ENSP00000337418:H26Q	H	+	3	2	HEPH	65326321	0.840000	0.29493	1.000000	0.80357	0.984000	0.73092	-0.038000	0.12144	0.332000	0.23536	-0.215000	0.12644	CAC		PASS	0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		42	61	42	61	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283739	67283739	+	Silent	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:67283739G>A	ENST00000355520.5	-	21	2756	c.2115C>T	c.(2113-2115)caC>caT	p.H705H	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	705	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.H705H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCTCTTTATGTGGAAAGAGG	0.587																																						uc004dww.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2113-2115)CAC>CAT		oligophrenin 1							36.0	28.0	31.0					X																	67283739		2201	4296	6497	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283739G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2115C>T	X.37:g.67283739G>A						OPHN1_uc011mpg.1_Intron	p.H705H	NM_002547	NP_002538	O60890	OPHN1_HUMAN			21	2409	-			705			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.2115C>T	CCDS14388.1																																																																																				PASS	0.587	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		6	11	6	11	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70468981	70468981	+	Silent	SNP	G	G	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:70468981G>C	ENST00000353904.2	-	8	1696	c.1509C>G	c.(1507-1509)acC>acG	p.T503T	ZMYM3_ENST00000373988.1_Silent_p.T505T|ZMYM3_ENST00000373984.3_Silent_p.T505T|ZMYM3_ENST00000373998.1_Silent_p.T503T|ZMYM3_ENST00000314425.5_Silent_p.T503T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	503					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)	p.T503T(1)		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)					TCTTACACAGGGTCTTGCACC	0.453																																						uc004dzh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1507-1509)ACC>ACG		zinc finger protein 261							224.0	176.0	192.0					X																	70468981		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70468981G>C	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.1509C>G	X.37:g.70468981G>C						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.T503T|ZMYM3_uc004dzj.1_Silent_p.T503T	p.T503T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			8	1596	-	Renal(35;0.156)		503			MYM-type 4.		D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.1509C>G	CCDS14409.1																																																																																				PASS	0.453	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		59	136	59	136	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177498	89177498	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:89177498C>A	ENST00000561129.2	+	1	544	c.414C>A	c.(412-414)acC>acA	p.T138T	TGIF2LX_ENST00000283891.5_Silent_p.T138T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T138T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGCAGAGCACCGAGGCGTCTG	0.587																																						uc004efe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(412-414)ACC>ACA		TGFB-induced factor homeobox 2-like, X-linked							48.0	47.0	48.0					X																	89177498		2203	4300	6503	SO:0001819	synonymous_variant	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177498C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.414C>A	X.37:g.89177498C>A							p.T138T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	463	+			138					Q5JRM9|Q8TD48	Silent	SNP	ENST00000561129.2	37	c.414C>A	CCDS14459.1																																																																																				PASS	0.587	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		22	48	22	48	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100510221	100510221	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:100510221G>T	ENST00000395209.3	+	20	2756	c.2229G>T	c.(2227-2229)ttG>ttT	p.L743F	DRP2_ENST00000538510.1_Missense_Mutation_p.L743F|DRP2_ENST00000541709.1_Missense_Mutation_p.L665F|DRP2_ENST00000402866.1_Missense_Mutation_p.L743F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	743					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L740F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ATGACAGCTTGTCCCCAGATG	0.463																																						uc004egz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2227-2229)TTG>TTT		dystrophin related protein 2							166.0	140.0	149.0					X																	100510221		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100510221G>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2229G>T	X.37:g.100510221G>T	ENSP00000378635:p.Leu743Phe					DRP2_uc011mrh.1_Missense_Mutation_p.L665F	p.L743F	NM_001939	NP_001930	Q13474	DRP2_HUMAN			20	2598	+			743					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2229G>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042072	0.35989	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	4.94	1.15	0.20763	.	0.158671	0.43579	D	0.000558	T	0.77157	0.4089	L	0.37561	1.115	0.51767	D	0.999935	D	0.69078	0.997	P	0.60789	0.879	T	0.73036	-0.4109	10	0.09338	T	0.73	-7.2475	0.9865	0.01447	0.2341:0.1237:0.386:0.2563	.	743	Q13474	DRP2_HUMAN	F	743;743;665;743	ENSP00000385038:L743F;ENSP00000378635:L743F;ENSP00000444752:L665F;ENSP00000441051:L743F	ENSP00000378635:L743F	L	+	3	2	DRP2	100396877	0.999000	0.42202	0.997000	0.53966	0.956000	0.61745	0.512000	0.22755	-0.087000	0.12528	-0.542000	0.04241	TTG		PASS	0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		85	124	85	124	---	---	---	---
BTK	695	broad.mit.edu	37	X	100613622	100613622	+	Silent	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:100613622C>G	ENST00000308731.7	-	11	1120	c.957G>C	c.(955-957)gtG>gtC	p.V319V	BTK_ENST00000372880.1_Silent_p.V319V	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	319	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		V -> A (in XLA; moderate).		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.V319V(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATTTAGCAAACACAGACACTG	0.483									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(955-957)GTG>GTC		Bruton agammaglobulinemia tyrosine kinase							249.0	218.0	228.0					X																	100613622		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100613622C>G	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.957G>C	X.37:g.100613622C>G						BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.V319V|BTK_uc010nno.2_Silent_p.V353V|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.V319V	p.V319V	NM_000061	NP_000052	Q06187	BTK_HUMAN			11	1150	-			319		V -> A (in XLA; moderate).	SH2.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.957G>C	CCDS14482.1																																																																																				PASS	0.483	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		18	381	18	381	---	---	---	---
BEX1	55859	broad.mit.edu	37	X	102317851	102317851	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:102317851G>T	ENST00000372728.3	-	3	591	c.352C>A	c.(352-354)Cat>Aat	p.H118N		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	118					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)	p.H118N(2)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AACTCATCATGATGGTCATGG	0.488																																						uc004ejt.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(352-354)CAT>AAT		brain expressed, X-linked 1							173.0	140.0	151.0					X																	102317851		2203	4300	6503	SO:0001583	missense	55859				cell differentiation|nervous system development	cytoplasm|nucleus		g.chrX:102317851G>T		CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.352C>A	X.37:g.102317851G>T	ENSP00000361813:p.His118Asn						p.H118N	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN			3	592	-			118					A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	ENST00000372728.3	37	c.352C>A	CCDS35354.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303830	0.23736	.	.	ENSG00000133169	ENST00000372728	T	0.10573	2.86	3.21	1.39	0.22231	.	0.290766	0.24978	N	0.034082	T	0.09774	0.0240	L	0.58583	1.82	0.26639	N	0.972327	B	0.13145	0.007	B	0.12156	0.007	T	0.22208	-1.0223	10	0.56958	D	0.05	.	3.384	0.07265	0.1431:0.0:0.6049:0.2519	.	118	Q9HBH7	BEX1_HUMAN	N	118	ENSP00000361813:H118N	ENSP00000361813:H118N	H	-	1	0	BEX1	102204507	0.987000	0.35691	0.815000	0.32552	0.910000	0.53928	1.086000	0.30853	0.242000	0.21303	0.597000	0.82753	CAT		PASS	0.488	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058925.1	NM_018476		78	107	78	107	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105179165	105179165	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:105179165A>G	ENST00000243300.9	+	21	3806	c.3503A>G	c.(3502-3504)tAc>tGc	p.Y1168C	NRK_ENST00000428173.2_Missense_Mutation_p.Y1169C	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1168					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Y1169C(1)|p.Y1168C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGCAGTATACGCTGGATTC	0.383										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3502-3504)TAC>TGC		Nik related kinase							164.0	145.0	151.0					X																	105179165		1880	4096	5976	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179165A>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3503A>G	X.37:g.105179165A>G	ENSP00000434830:p.Tyr1168Cys	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.Y836C	p.Y1168C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			21	3806	+			1168					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3503A>G		.	.	.	.	.	.	.	.	.	.	A	8.940	0.965614	0.18583	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77229	-1.07;-1.08	4.78	2.38	0.29361	.	0.336622	0.21892	N	0.067570	T	0.61640	0.2363	L	0.27053	0.805	0.09310	N	1	B;B	0.20261	0.043;0.005	B;B	0.23018	0.043;0.005	T	0.50346	-0.8839	10	0.40728	T	0.16	.	5.6109	0.17404	0.7758:0.0:0.2242:0.0	.	836;1168	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	C	1168;1169	ENSP00000434830:Y1168C;ENSP00000438378:Y1169C	ENSP00000434830:Y1168C	Y	+	2	0	NRK	105065821	0.996000	0.38824	0.610000	0.28997	0.090000	0.18270	1.802000	0.38853	0.270000	0.21984	-0.360000	0.07572	TAC		PASS	0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		57	103	57	103	---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304242	115304242	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:115304242C>T	ENST00000371906.4	+	3	899	c.709C>T	c.(709-711)Cac>Tac	p.H237Y		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	237					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.H237Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	AATTAGAAAACACTTACTGAA	0.403																																						uc004eqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(709-711)CAC>TAC		angiotensin II receptor, type 2							138.0	112.0	121.0					X																	115304242		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304242C>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.709C>T	X.37:g.115304242C>T	ENSP00000360973:p.His237Tyr						p.H237Y	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	916	+			237			Cytoplasmic (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.709C>T	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552830	0.45487	.	.	ENSG00000180772	ENST00000371906	T	0.36878	1.23	4.78	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	M	0.68952	2.095	0.43133	D	0.99487	D	0.76494	0.999	D	0.70227	0.968	T	0.55405	-0.8146	10	0.62326	D	0.03	-6.7523	9.6823	0.40078	0.0:0.8969:0.0:0.1031	.	237	P50052	AGTR2_HUMAN	Y	237	ENSP00000360973:H237Y	ENSP00000360973:H237Y	H	+	1	0	AGTR2	115218270	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	5.333000	0.65917	1.019000	0.39547	0.506000	0.49869	CAC		PASS	0.403	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		35	59	35	59	---	---	---	---
WDR44	54521	broad.mit.edu	37	X	117527019	117527019	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:117527019C>G	ENST00000254029.3	+	4	1006	c.611C>G	c.(610-612)gCc>gGc	p.A204G	WDR44_ENST00000371822.5_Missense_Mutation_p.A179G|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A204G	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488																																						uc004eqn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(610-612)GCC>GGC		WD repeat domain 44 protein							144.0	125.0	132.0					X																	117527019		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527019C>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.611C>G	X.37:g.117527019C>G	ENSP00000254029:p.Ala204Gly					WDR44_uc004eqo.2_Missense_Mutation_p.A204G|WDR44_uc011mtr.1_Missense_Mutation_p.A179G|WDR44_uc010nqi.2_5'UTR	p.A204G	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			4	1036	+			204					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.611C>G	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.981|8.981	0.975430|0.975430	0.18736|0.18736	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825|ENST00000371848	T;T;T|.	0.73789|.	-0.78;-0.21;-0.08|.	5.69|5.69	2.87|2.87	0.33458|0.33458	.|.	0.693990|.	0.14300|.	N|.	0.328333|.	T|T	0.20333|0.20333	0.0489|0.0489	N|N	0.19112|0.19112	0.55|0.55	0.21220|0.21220	N|N	0.999758|0.999758	B;B;B|.	0.18166|.	0.026;0.01;0.007|.	B;B;B|.	0.23419|.	0.046;0.022;0.015|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.37606|.	T|.	0.19|.	-0.7721|-0.7721	2.9206|2.9206	0.05767|0.05767	0.1398:0.5526:0.1462:0.1614|0.1398:0.5526:0.1462:0.1614	.|.	179;204;204|.	F8W913;Q5JSH3-2;Q5JSH3|.	.;.;WDR44_HUMAN|.	G|W	179;204;204|103	ENSP00000360887:A179G;ENSP00000254029:A204G;ENSP00000360890:A204G|.	ENSP00000254029:A204G|.	A|C	+|+	2|3	0|2	WDR44|WDR44	117411047|117411047	0.995000|0.995000	0.38212|0.38212	0.182000|0.182000	0.23118|0.23118	0.191000|0.191000	0.23601|0.23601	0.769000|0.769000	0.26604|0.26604	0.153000|0.153000	0.19213|0.19213	-0.253000|-0.253000	0.11424|0.11424	GCC|TGC		PASS	0.488	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		36	107	36	107	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117731508	117731508	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:117731508C>T	ENST00000276202.7	+	21	2441	c.2378C>T	c.(2377-2379)tCa>tTa	p.S793L	DOCK11_ENST00000276204.6_Missense_Mutation_p.S793L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	793	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S793L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGCAGAATCAAGAAGGGTA	0.388																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2377-2379)TCA>TTA		dedicator of cytokinesis 11							88.0	78.0	81.0					X																	117731508		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117731508C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2378C>T	X.37:g.117731508C>T	ENSP00000276202:p.Ser793Leu					DOCK11_uc004eqq.2_Missense_Mutation_p.S559L	p.S793L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			21	2441	+			793			DHR-1.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.2378C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581111	0.46006	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.13307	2.6;2.6	5.47	4.61	0.57282	.	1.010280	0.07940	N	0.979062	T	0.09291	0.0229	N	0.05487	-0.04	0.37336	D	0.910169	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.008	T	0.18147	-1.0346	10	0.28530	T	0.3	-6.3487	12.6879	0.56958	0.0:0.9189:0.0:0.0811	.	793;793	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	793	ENSP00000276204:S793L;ENSP00000276202:S793L	ENSP00000276202:S793L	S	+	2	0	DOCK11	117615536	0.485000	0.25972	0.989000	0.46669	0.976000	0.68499	1.791000	0.38744	1.198000	0.43158	-0.191000	0.12829	TCA		PASS	0.388	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		47	72	47	72	---	---	---	---
XIAP	331	broad.mit.edu	37	X	123034478	123034478	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:123034478C>T	ENST00000371199.3	+	6	1534	c.1235C>T	c.(1234-1236)gCa>gTa	p.A412V	XIAP_ENST00000355640.3_Missense_Mutation_p.A412V|XIAP_ENST00000434753.3_Missense_Mutation_p.A412V|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	412					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A412V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GTTCTGGTTGCAGATCTAGTG	0.378									X-linked Lymphoproliferative syndrome																													uc010nqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1234-1236)GCA>GTA		baculoviral IAP repeat-containing protein 4							87.0	81.0	83.0					X																	123034478		2203	4300	6503	SO:0001583	missense	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123034478C>T	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1235C>T	X.37:g.123034478C>T	ENSP00000360242:p.Ala412Val					XIAP_uc004etx.2_Missense_Mutation_p.A412V|XIAP_uc010nqv.2_Missense_Mutation_p.A38V	p.A412V	NM_001167	NP_001158	P98170	XIAP_HUMAN			6	1361	+			412					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.1235C>T	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	c	7.639	0.680458	0.14907	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.28069	1.63;1.63;1.63	4.61	4.61	0.57282	.	0.369709	0.25801	N	0.028220	T	0.31231	0.0790	L	0.60455	1.87	0.47819	D	0.999521	B	0.29188	0.236	B	0.30029	0.11	T	0.07888	-1.0749	10	0.25751	T	0.34	-14.345	14.5088	0.67769	0.0:1.0:0.0:0.0	.	412	P98170	XIAP_HUMAN	V	412	ENSP00000395230:A412V;ENSP00000360242:A412V;ENSP00000347858:A412V	ENSP00000347858:A412V	A	+	2	0	XIAP	122862159	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	5.438000	0.66550	2.133000	0.65898	0.429000	0.28392	GCA		PASS	0.378	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		25	62	25	62	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123197734	123197734	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:123197734G>T	ENST00000371160.1	+	20	2148	c.1858G>T	c.(1858-1860)Gta>Tta	p.V620L	STAG2_ENST00000371157.3_Missense_Mutation_p.V620L|STAG2_ENST00000371145.3_Missense_Mutation_p.V620L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.V620L|STAG2_ENST00000354548.5_Missense_Mutation_p.V551L|STAG2_ENST00000218089.9_Missense_Mutation_p.V620L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	620					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.V620L(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCGGAATATTGTAGAGAAGCA	0.338																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1858-1860)GTA>TTA		stromal antigen 2 isoform b							98.0	83.0	88.0					X																	123197734		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197734G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1858G>T	X.37:g.123197734G>T	ENSP00000360202:p.Val620Leu					STAG2_uc004eua.2_Missense_Mutation_p.V620L|STAG2_uc004eub.2_Missense_Mutation_p.V620L|STAG2_uc004euc.2_Missense_Mutation_p.V620L|STAG2_uc004eud.2_Missense_Mutation_p.V620L|STAG2_uc004eue.2_Missense_Mutation_p.V620L	p.V620L	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			19	2197	+			620					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.1858G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887827	0.72410	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.131761	0.50627	D	0.000104	T	0.29458	0.0734	M	0.64997	1.995	0.58432	D	0.999999	B;B	0.33238	0.142;0.403	B;B	0.38428	0.273;0.209	T	0.05468	-1.0883	10	0.38643	T	0.18	-12.3801	17.4555	0.87606	0.0:0.0:1.0:0.0	.	620;620	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	620;551;620;620;620;620	ENSP00000218089:V620L;ENSP00000346555:V551L;ENSP00000360202:V620L;ENSP00000360199:V620L;ENSP00000360187:V620L;ENSP00000360186:V620L	ENSP00000218089:V620L	V	+	1	0	STAG2	123025415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.047000	0.60756	0.544000	0.68410	GTA		PASS	0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		48	70	48	70	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123516596	123516596	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:123516596G>T	ENST00000371130.3	-	30	7406	c.7343C>A	c.(7342-7344)cCt>cAt	p.P2448H	TENM1_ENST00000422452.2_Missense_Mutation_p.P2455H|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2448					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P2450H(1)									TTCTAATTCAGGTTTGGGAAA	0.353																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7342-7344)CCT>CAT		odz, odd Oz/ten-m homolog 1 isoform 3							116.0	125.0	122.0					X																	123516596		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123516596G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7343C>A	X.37:g.123516596G>T	ENSP00000360171:p.Pro2448His					ODZ1_uc011muj.1_Missense_Mutation_p.P2454H|ODZ1_uc010nqy.2_Missense_Mutation_p.P2455H	p.P2448H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			30	7407	-			2448			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7343C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047097	0.75846	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86432	-2.12;-2.08	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.91566	0.7336	L	0.45581	1.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.91657	0.5339	10	0.51188	T	0.08	.	18.4135	0.90561	0.0:0.0:1.0:0.0	.	2454;2455;2448	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2448;2455	ENSP00000360171:P2448H;ENSP00000403954:P2455H	ENSP00000360171:P2448H	P	-	2	0	ODZ1	123344277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.062000	0.89475	2.288000	0.76882	0.600000	0.82982	CCT		PASS	0.353	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		117	213	117	213	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185764	127185764	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522																																						uc004eum.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(421-423)GCG>GTG		actin-related protein T1							192.0	176.0	182.0					X																	127185764		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185764G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.422C>T	X.37:g.127185764G>A	ENSP00000360165:p.Ala141Val						p.A141V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	619	-			141					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.422C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148347	0.37923	.	.	ENSG00000123165	ENST00000371124	D	0.97811	-4.55	3.75	1.94	0.25998	.	0.094216	0.44097	D	0.000492	D	0.98673	0.9555	H	0.94462	3.54	0.43207	D	0.995069	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	.	5.6715	0.17725	0.113:0.0:0.6924:0.1946	.	141	Q8TDG2	ACTT1_HUMAN	V	141	ENSP00000360165:A141V	ENSP00000360165:A141V	A	-	2	0	ACTRT1	127013445	1.000000	0.71417	0.020000	0.16555	0.085000	0.17905	3.934000	0.56553	0.390000	0.25115	0.538000	0.68166	GCG		PASS	0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		4	215	4	215	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135326828	135326828	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:135326828G>T	ENST00000316077.9	-	4	600	c.380C>A	c.(379-381)gCa>gAa	p.A127E	MAP7D3_ENST00000370663.5_Missense_Mutation_p.A109E|MAP7D3_ENST00000370661.1_Missense_Mutation_p.A127E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	127					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A424E(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTTTTCTTCTGCAGCTATTCT	0.398																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(379-381)GCA>GAA		MAP7 domain containing 3							316.0	292.0	300.0					X																	135326828		1913	4112	6025	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135326828G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.380C>A	X.37:g.135326828G>T	ENSP00000318086:p.Ala127Glu					MAP7D3_uc004ezs.2_Missense_Mutation_p.A126E|MAP7D3_uc011mwc.1_Missense_Mutation_p.A109E|MAP7D3_uc010nsa.1_Missense_Mutation_p.A126E	p.A127E	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			4	471	-	Acute lymphoblastic leukemia(192;0.000127)		127			Potential.		A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.380C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280181	0.59758	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	5.23	0.884	0.19182	.	.	.	.	.	T	0.12008	0.0292	L	0.43923	1.385	0.22378	N	0.999159	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.994;0.987;0.994	T	0.16424	-1.0403	9	0.62326	D	0.03	-7.3889	7.3991	0.26954	0.6861:0.0:0.3139:0.0	.	109;127;127;127	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	127;127;109;127	ENSP00000359695:A127E;ENSP00000318086:A127E;ENSP00000359697:A109E;ENSP00000359694:A127E	ENSP00000318086:A127E	A	-	2	0	MAP7D3	135154494	0.564000	0.26602	0.002000	0.10522	0.036000	0.12997	1.196000	0.32198	0.167000	0.19631	0.506000	0.49869	GCA		PASS	0.398	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			40	119	40	119	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136649893	136649893	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:136649893A>G	ENST00000287538.5	+	1	1593	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R	ZIC3_ENST00000370606.3_Missense_Mutation_p.H348R	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	348	Nuclear localization signal.				anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H348R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAAGATCCACAAGAGGACC	0.612																																						uc004fak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1042-1044)CAC>CGC		zinc finger protein of the cerebellum 3							51.0	55.0	53.0					X																	136649893		2197	4284	6481	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649893A>G	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1043A>G	X.37:g.136649893A>G	ENSP00000287538:p.His348Arg						p.H348R	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1548	+	Acute lymphoblastic leukemia(192;0.000127)		348			C2H2-type 3.|Nuclear localization signal.		B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1043A>G	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.627948	0.66901	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	D;D	0.86865	-2.18;-2.18	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047407	0.85682	D	0.000000	D	0.94679	0.8284	H	0.95043	3.615	0.58432	D	0.999999	D	0.67145	0.996	D	0.64506	0.926	D	0.95756	0.8796	10	0.87932	D	0	.	12.5312	0.56115	1.0:0.0:0.0:0.0	.	348	O60481	ZIC3_HUMAN	R	348	ENSP00000287538:H348R;ENSP00000359638:H348R	ENSP00000287538:H348R	H	+	2	0	ZIC3	136477559	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.134000	0.94467	1.749000	0.51849	0.483000	0.47432	CAC		PASS	0.612	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			44	88	44	88	---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153209819	153209819	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:153209819G>T	ENST00000393700.3	-	2	159	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	RENBP_ENST00000369997.3_Missense_Mutation_p.Q27K|RENBP_ENST00000412763.1_Missense_Mutation_p.Q27K|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	27					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.Q17K(1)|p.Q27K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TCCAGCTCCTGCCCCACGCGC	0.637																																						uc004fjo.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(79-81)CAG>AAG		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						116.0	106.0	109.0					X																	153209819		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209819G>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.79C>A	X.37:g.153209819G>T	ENSP00000377303:p.Gln27Lys					RENBP_uc011mzh.1_Missense_Mutation_p.Q27K|RENBP_uc011mzi.1_5'Flank	p.Q27K	NM_002910	NP_002901	P51606	RENBP_HUMAN			2	249	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		27					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.79C>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	8.220	0.802347	0.16397	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.28895	1.65;1.59;1.65	4.29	3.38	0.38709	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.537326	0.18064	N	0.152828	T	0.19327	0.0464	L	0.41236	1.265	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.23797	-1.0178	10	0.08381	T	0.77	-11.134	6.6785	0.23108	0.0:0.1896:0.6125:0.1979	.	27;27	P51606-2;P51606	.;RENBP_HUMAN	K	27	ENSP00000377303:Q27K;ENSP00000387811:Q27K;ENSP00000359014:Q27K	ENSP00000359014:Q27K	Q	-	1	0	RENBP	152863013	0.000000	0.05858	0.808000	0.32385	0.507000	0.33981	0.446000	0.21694	1.988000	0.58038	0.436000	0.28706	CAG		PASS	0.637	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		40	104	40	104	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:153296299G>T	ENST00000303391.6	-	4	1229	c.980C>A	c.(979-981)aCc>aAc	p.T327N	MECP2_ENST00000453960.2_Missense_Mutation_p.T339N|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	327					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617																																						uc004fjv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)ACC>AAC		methyl CpG binding protein 2 isoform 1							75.0	67.0	70.0					X																	153296299		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296299G>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.980C>A	X.37:g.153296299G>T	ENSP00000301948:p.Thr327Asn					MECP2_uc004fjw.2_Missense_Mutation_p.T339N	p.T327N	NM_004992	NP_004983	P51608	MECP2_HUMAN			4	1206	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		327					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.980C>A	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255245	0.39896	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91124	-2.79;-2.78	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.80869	0.4706	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.76974	-0.2760	10	0.54805	T	0.06	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	N	327;327;339	ENSP00000301948:T327N;ENSP00000395535:T339N	ENSP00000301948:T327N	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC		PASS	0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		43	75	43	75	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153297676	153297676	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:153297676T>C	ENST00000303391.6	-	3	608	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	MECP2_ENST00000407218.1_Missense_Mutation_p.Y120C|MECP2_ENST00000453960.2_Missense_Mutation_p.Y132C|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	120	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.		Y -> D (in RTT). {ECO:0000269|PubMed:11376998}.		adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.Y120C(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATACACATCATACTTCCCAGC	0.522																																						uc004fjv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)TAT>TGT		methyl CpG binding protein 2 isoform 1							73.0	66.0	68.0					X																	153297676		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297676T>C	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.359A>G	X.37:g.153297676T>C	ENSP00000301948:p.Tyr120Cys					MECP2_uc004fjw.2_Missense_Mutation_p.Y132C	p.Y120C	NM_004992	NP_004983	P51608	MECP2_HUMAN			3	585	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		120		Y -> D (in RTT).	MBD.		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.359A>G	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160737	0.57368	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218	D;D;D	0.99353	-5.77;-5.77;-5.77	5.93	5.93	0.95920	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.052569	0.85682	D	0.000000	D	0.98760	0.9583	L	0.41492	1.28	0.48341	D	0.999633	D;D	0.76494	0.998;0.999	D;D	0.69142	0.937;0.962	D	0.98948	1.0793	10	0.87932	D	0	-5.6774	9.6653	0.39981	0.1575:0.0:0.0:0.8425	.	132;120	P51608-2;P51608	.;MECP2_HUMAN	C	120;120;132;120;120	ENSP00000301948:Y120C;ENSP00000395535:Y132C;ENSP00000384865:Y120C	ENSP00000301948:Y120C	Y	-	2	0	MECP2	152950870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.711000	0.54868	2.013000	0.59113	0.430000	0.28490	TAT		PASS	0.522	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		36	83	36	83	---	---	---	---
SLC10A3	8273	broad.mit.edu	37	X	153716116	153716116	+	Silent	SNP	C	C	A			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:153716116C>A	ENST00000393587.4	-	3	1427	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V	SLC10A3_ENST00000263512.4_Silent_p.V388V|SLC10A3_ENST00000369649.4_Silent_p.V359V|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V443V	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	388					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.V388V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTGATACCCACCAGTACGA	0.627																																						uc004flq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1162-1164)GTG>GTT		solute carrier family 10, member 3 isoform 1							54.0	44.0	47.0					X																	153716116		2203	4299	6502	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716116C>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1164G>T	X.37:g.153716116C>A						UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.V359V|SLC10A3_uc004flp.2_Silent_p.V388V	p.V388V	NM_001142392	NP_001135864	P09131	P3_HUMAN			3	1428	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		388			Helical; (Potential).		Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.1164G>T	CCDS14755.1																																																																																				PASS	0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		24	41	24	41	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197298001	197298002	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr1:197298001_197298002delTG	ENST00000367400.3	+	2	655_656	c.520_521delTG	c.(520-522)tgtfs	p.C174fs	CRB1_ENST00000538660.1_Frame_Shift_Del_p.C174fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.C105fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.C174fs	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	174	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCTGCTTCTGTGTCCCAGGA	0.495																																						uc001gtz.2																			0				ovary(5)|skin(3)|large_intestine(1)	9						c.(520-522)TGTfs		crumbs homolog 1 precursor																																				SO:0001589	frameshift_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197298001_197298002delTG		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.520_521delTG	1.37:g.197298003_197298004delTG	ENSP00000356370:p.Cys174fs					CRB1_uc010poz.1_Frame_Shift_Del_p.C105fs|CRB1_uc001gty.1_Frame_Shift_Del_p.C174fs|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Frame_Shift_Del_p.C174fs|CRB1_uc010ppb.1_Frame_Shift_Del_p.C174fs	p.C174fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	655_656	+			174			Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Del	DEL	ENST00000367400.3	37	c.520_521delTG	CCDS1390.1																																																																																					0.495	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		21	10	21	10	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27799780	27799780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr2:27799780delA	ENST00000408964.2	+	1	392	c.341delA	c.(340-342)caafs	p.Q114fs		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	114						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAATTATCAAATCATGGAA	0.418																																						uc002rkz.3																			0				large_intestine(1)	1						c.(340-342)CAAfs		hypothetical protein LOC84226							60.0	56.0	57.0					2																	27799780		1848	4105	5953	SO:0001589	frameshift_variant	84226							g.chr2:27799780delA	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.341delA	2.37:g.27799780delA	ENSP00000386190:p.Gln114fs						p.Q114fs	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	392	+	Acute lymphoblastic leukemia(172;0.155)		114					B9EIQ4|Q53S01|Q8ND64|Q9H088	Frame_Shift_Del	DEL	ENST00000408964.2	37	c.341delA	CCDS42666.1																																																																																					0.418	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		57	39	57	39	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106156934	106156935	+	Frame_Shift_Ins	INS	-	-	T			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr4:106156934_106156935insT	ENST00000540549.1	+	3	2695_2696	c.1835_1836insT	c.(1834-1839)cctgggfs	p.G613fs	TET2_ENST00000380013.4_Frame_Shift_Ins_p.G613fs|TET2_ENST00000413648.2_Frame_Shift_Ins_p.G613fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.G634fs|TET2_ENST00000545826.1_Frame_Shift_Ins_p.G613fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.G613fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.G613fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	613	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCCAACATGCCTGGGGGGCTCC	0.45			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0		p.L590_H650del(1)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1834-1836)CCTfs		tet oncogene family member 2 isoform a																																				SO:0001589	frameshift_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156934_106156935insT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1836dupT	4.37:g.106156935_106156935dupT	ENSP00000442788:p.Gly613fs					TET2_uc011cez.1_Frame_Shift_Ins_p.P633fs|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Frame_Shift_Ins_p.P612fs|TET2_uc003hxi.1_Frame_Shift_Ins_p.P612fs	p.P612fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2221_2222	+		Myeloproliferative disorder(5;0.0393)	612			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	ENST00000540549.1	37	c.1835_1836insT	CCDS47120.1																																																																																					0.450	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		22	22	22	22	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs60594151	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							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)			GACCTCGAGTAACTGCCCCAG	0.667													A|AA|A|insertion	1839	0.367212	0.4402	0.3473	5008	,	,		16407	0.4206		0.2942	False		,,,				2504	0.3027					uc010lpk.2																			0					0						c.e81+2		SCO-spondin precursor				1497,2307		384,729,789	5.0	7.0	6.0			1.8	0.2	7	dbSNP_132	8	2537,5339		482,1573,1883	no	frameshift	SSPO	NM_198455.2		866,2302,2672	A1A1,A1R,RR		32.2118,39.3533,34.5377			149515189	4034,7646	1638	3723	5361			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515189delA	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.149515189delA							p.E3859_splice	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		81	11577	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	Splice_Site	DEL	ENST00000378016.2	37	c.11577_splice																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	4	8	4	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88300875	88300875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr11:88300875delT	ENST00000305447.4	-	7	2125	c.1976delA	c.(1975-1977)tacfs	p.Y659fs	GRM5_ENST00000418177.2_Frame_Shift_Del_p.Y659fs|GRM5_ENST00000455756.2_Frame_Shift_Del_p.Y659fs|GRM5_ENST00000305432.5_Frame_Shift_Del_p.Y659fs|GRM5_ENST00000393297.1_Frame_Shift_Del_p.Y659fs	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	659					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAGGGCTGAGTAGCTCATGGC	0.498																																						uc001pcq.2																			0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1975-1977)TACfs		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						155.0	143.0	147.0					11																	88300875		2201	4299	6500	SO:0001589	frameshift_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300875delT	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1976delA	11.37:g.88300875delT	ENSP00000306138:p.Tyr659fs					GRM5_uc009yvm.2_Frame_Shift_Del_p.Y659fs	p.Y659fs	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2176	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	659			Helical; Name=3; (Potential).		Q6J164	Frame_Shift_Del	DEL	ENST00000305447.4	37	c.1976delA	CCDS44694.1																																																																																					0.498	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		42	23	42	23	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89398163	89398172	+	Frame_Shift_Del	DEL	GCCTCAGAGG	GCCTCAGAGG	-			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr15:89398163_89398172delGCCTCAGAGG	ENST00000561243.1	+	11	2347_2356	c.2347_2356delGCCTCAGAGG	c.(2347-2358)gcctcagaggaafs	p.ASEE783fs	ACAN_ENST00000352105.7_Frame_Shift_Del_p.ASEE783fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.ASEE783fs|ACAN_ENST00000439576.2_Frame_Shift_Del_p.ASEE783fs			P16112	PGCA_HUMAN	aggrecan	782	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGCCCTCTGCCTCAGAGGAACCATCCCC	0.576																																						uc010upo.1																			0				ovary(2)|central_nervous_system(1)	3						c.(2347-2358)GCCTCAGAGGAAfs		aggrecan isoform 2 precursor																																				SO:0001589	frameshift_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398163_89398172delGCCTCAGAGG	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2347_2356delGCCTCAGAGG	15.37:g.89398163_89398172delGCCTCAGAGG	ENSP00000453342:p.Ala783fs					ACAN_uc010upp.1_Frame_Shift_Del_p.A783fs|ACAN_uc002bna.2_RNA	p.A783fs	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2721_2730	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		783_786					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Frame_Shift_Del	DEL	ENST00000561243.1	37	c.2347_2356delGCCTCAGAGG	CCDS53970.1																																																																																					0.576	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	5	8	5	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073	byFrequency	TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(25-27)ggc>GGCggc	p.9_9G>GG		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	9	Poly-Gly.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772														1448	0.289137	0.0772	0.3199	5008	,	,		6733	0.3968		0.4165	False		,,,				2504	0.3119					uc010xfl.1																			2	Insertion - In frame(2)		upper_aerodigestive_tract(2)		0						c.(22-27)insGGC		potassium voltage-gated channel, subfamily G,																																				SO:0001652	inframe_insertion	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623691_77623692insGGC	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.34_36dupGGC	18.37:g.77623698_77623700dupGGC	ENSP00000315654:p.Gly13dup						p.13_14insG	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	24_25	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	13_14			Cytoplasmic (Potential).			In_Frame_Ins	INS	ENST00000316249.3	37	c.24_25insGGC	CCDS12019.1																																																																																					0.772	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		8	4	8	4	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935707	151935707	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5927-01A-11D-1817-08	TCGA-34-5927-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d717b13a-e487-4cad-9aae-4b0d649236c4	767efe3e-b701-4cac-992c-c58a02a715fc	g.chrX:151935707delC	ENST00000393902.3	-	3	1027	c.460delG	c.(460-462)gctfs	p.A154fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.A154fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	154	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTGGAAGCTTTGCTGAAG	0.542																																						uc004fgp.2																			0					0						c.(460-462)GCTfs		melanoma antigen family A, 3							135.0	121.0	126.0					X																	151935707		2203	4293	6496	SO:0001589	frameshift_variant	4102							g.chrX:151935707delC		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.460delG	X.37:g.151935707delC	ENSP00000377480:p.Ala154fs						p.A154fs	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	669	-	Acute lymphoblastic leukemia(192;6.56e-05)		154			MAGE.		Q6FHI6	Frame_Shift_Del	DEL	ENST00000393902.3	37	c.460delG	CCDS14715.1																																																																																					0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		174	84	174	84	---	---	---	---
