#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	9775958	9775958	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:9775958C>T	ENST00000377346.4	+	5	617	c.422C>T	c.(421-423)gCc>gTc	p.A141V	PIK3CD_ENST00000536656.1_Missense_Mutation_p.A141V|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A141V|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	141					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.A141V(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)	GACTTTCGCGCCAAGATGTGC	0.687																																						uc001aqb.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(421-423)GCC>GTC		catalytic phosphatidylinositol 3-kinase delta							17.0	18.0	18.0					1																	9775958		2201	4298	6499	SO:0001583	missense	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.chr1:9775958C>T		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.422C>T	1.37:g.9775958C>T	ENSP00000366563:p.Ala141Val					PIK3CD_uc010oaf.1_Missense_Mutation_p.A141V|PIK3CD_uc001aqe.3_Missense_Mutation_p.A141V	p.A141V	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)	5	630	+	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)	141					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.422C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	5.988	0.366305	0.11352	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.43688	0.94;0.94;0.94	5.7	1.71	0.24356	.	0.838716	0.11306	N	0.577721	T	0.23926	0.0579	L	0.29908	0.895	0.19300	N	0.999975	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.27536	-1.0071	10	0.15066	T	0.55	-2.6975	2.2438	0.04026	0.1245:0.435:0.2413:0.1992	.	141;141;141	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	V	141	ENSP00000446444:A141V;ENSP00000366563:A141V;ENSP00000354410:A141V	ENSP00000353766:A141V	A	+	2	0	PIK3CD	9698545	0.100000	0.21855	0.007000	0.13788	0.020000	0.10135	1.156000	0.31712	0.063000	0.16370	-0.182000	0.12963	GCC		PASS	0.687	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		5	27	5	27	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12416115	12416115	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:12416115T>G	ENST00000358136.3	+	48	9969	c.9839T>G	c.(9838-9840)aTt>aGt	p.I3280S	VPS13D_ENST00000356315.4_Missense_Mutation_p.I3255S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.I3280S(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGATCTTCATTTCTGCTCCA	0.448																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9838-9840)ATT>AGT		vacuolar protein sorting 13D isoform 1							113.0	105.0	108.0					1																	12416115		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12416115T>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9839T>G	1.37:g.12416115T>G	ENSP00000350854:p.Ile3280Ser					VPS13D_uc001atw.2_Missense_Mutation_p.I3255S|VPS13D_uc001atx.2_Missense_Mutation_p.I2467S	p.I3280S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	48	9980	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3279						Missense_Mutation	SNP	ENST00000358136.3	37	c.9839T>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.612527|4.612527	0.87258|0.87258	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50548	.|0.74;0.74	5.89|5.89	5.89|5.89	0.94794|0.94794	.|Vacuolar protein sorting-associated protein (1);	.|0.046090	.|0.85682	.|D	.|0.000000	T|T	0.70544|0.70544	0.3236|0.3236	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.987;0.998	.|D;D	.|0.70935	.|0.923;0.971	T|T	0.75048|0.75048	-0.3455|-0.3455	5|10	.|0.87932	.|D	.|0	.|.	16.3158|16.3158	0.82923|0.82923	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3255;3279	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|S	2102|3255;3280	.|ENSP00000348666:I3255S;ENSP00000350854:I3280S	.|ENSP00000348666:I3255S	F|I	+|+	1|2	0|0	VPS13D|VPS13D	12338702|12338702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	TTT|ATT		PASS	0.448	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		22	69	22	69	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55089020	55089020	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:55089020C>G	ENST00000302250.2	-	1	209	c.49G>C	c.(49-51)Gcc>Ccc	p.A17P	FAM151A_ENST00000371304.2_Missense_Mutation_p.A17P|RP11-240D10.4_ENST00000416119.1_RNA|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	17						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A17P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GTAATGCCGGCAAACACCCAC	0.597																																						uc001cxn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GCC>CCC		hypothetical protein LOC338094							238.0	185.0	203.0					1																	55089020		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55089020C>G	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.49G>C	1.37:g.55089020C>G	ENSP00000306888:p.Ala17Pro					ACOT11_uc001cxm.1_Intron	p.A17P	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			1	181	-			17			Helical; (Potential).		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.49G>C	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462725	0.43736	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.12672	2.66;2.74	3.53	1.57	0.23409	.	1.079840	0.07266	N	0.868223	T	0.11324	0.0276	L	0.38175	1.15	0.09310	N	1	P	0.50943	0.94	B	0.41666	0.363	T	0.26189	-1.0110	10	0.52906	T	0.07	-1.1056	4.7462	0.13038	0.0:0.6517:0.2239:0.1244	.	17	Q8WW52	F151A_HUMAN	P	17	ENSP00000306888:A17P;ENSP00000360353:A17P	ENSP00000294370:A17P	A	-	1	0	FAM151A	54861608	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.638000	0.05452	0.449000	0.26747	0.655000	0.94253	GCC		PASS	0.597	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		16	163	16	163	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62593720	62593720	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:62593720C>G	ENST00000371158.2	+	40	5234	c.5120C>G	c.(5119-5121)gCc>gGc	p.A1707G	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1707	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.A1707G(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTATTTATTGCCATGATTCAG	0.458																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5119-5121)GCC>GGC		InaD-like							92.0	88.0	89.0					1																	62593720		1913	4126	6039	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62593720C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5120C>G	1.37:g.62593720C>G	ENSP00000360200:p.Ala1707Gly					INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.A491G	p.A1707G	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			40	5234	+			1707			PDZ 10.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5120C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	35	5.585787	0.96578	.	.	ENSG00000132849	ENST00000371158	T	0.28454	1.61	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.238623	0.32244	N	0.006364	T	0.49012	0.1532	L	0.41415	1.275	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.09684	-1.0663	10	0.27785	T	0.31	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	1707	Q8NI35	INADL_HUMAN	G	1707	ENSP00000360200:A1707G	ENSP00000360200:A1707G	A	+	2	0	INADL	62366308	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.453000	0.80700	2.880000	0.98712	0.650000	0.86243	GCC		PASS	0.458	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		11	74	11	74	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63044554	63044554	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:63044554T>C	ENST00000340370.5	-	17	1972	c.1955A>G	c.(1954-1956)cAt>cGt	p.H652R	DOCK7_ENST00000251157.5_Missense_Mutation_p.H652R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	652	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.H652R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACAACTAACATGATAAAAAGT	0.313																																						uc001daq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1954-1956)CAT>CGT		dedicator of cytokinesis 7							89.0	88.0	88.0					1																	63044554		2203	4299	6502	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63044554T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1955A>G	1.37:g.63044554T>C	ENSP00000340742:p.His652Arg					DOCK7_uc001dan.2_Missense_Mutation_p.H544R|DOCK7_uc001dao.2_Missense_Mutation_p.H544R|DOCK7_uc001dap.2_Missense_Mutation_p.H652R	p.H652R	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			17	1989	-			652			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.1955A>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523244	0.85600	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.17691	2.26;2.26	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	T	0.61530	-0.7044	10	0.87932	D	0	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	652;652;652;652	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	R	652	ENSP00000251157:H652R;ENSP00000340742:H652R	ENSP00000251157:H652R	H	-	2	0	DOCK7	62817142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.330000	0.79161	0.477000	0.44152	CAT		PASS	0.313	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		25	109	25	109	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70573448	70573448	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:70573448C>G	ENST00000035383.5	+	24	4475	c.4445C>G	c.(4444-4446)aCt>aGt	p.T1482S	LRRC7_ENST00000310961.5_Missense_Mutation_p.T1440S|LRRC7_ENST00000415775.2_Missense_Mutation_p.T766S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1482	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.T1482S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCTTTGTTACTAGGGTTCAG	0.408																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(4444-4446)ACT>AGT		leucine rich repeat containing 7							137.0	127.0	131.0					1																	70573448		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70573448C>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4445C>G	1.37:g.70573448C>G	ENSP00000035383:p.Thr1482Ser					LRRC7_uc009wbg.2_Missense_Mutation_p.T766S|LRRC7_uc001deq.2_Missense_Mutation_p.T676S	p.T1482S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			24	4475	+			1482			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4445C>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637797	0.87760	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.24151	1.87;1.87;1.87	5.71	5.71	0.89125	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.22513	0.0543	N	0.11255	0.115	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.996;0.989	D;D;D	0.78314	0.991;0.98;0.982	T	0.16958	-1.0385	10	0.22706	T	0.39	.	19.4595	0.94910	0.0:1.0:0.0:0.0	.	766;1435;1482	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1440;1482;766;1258	ENSP00000309245:T1440S;ENSP00000035383:T1482S;ENSP00000394867:T766S	ENSP00000035383:T1482S	T	+	2	0	LRRC7	70346036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.113000	0.77095	2.691000	0.91804	0.655000	0.94253	ACT		PASS	0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	152	23	152	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670968	74670968	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:74670968G>T	ENST00000609362.1	+	4	1274	c.1237G>T	c.(1237-1239)Gtg>Ttg	p.V413L	FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.V426L|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.V159L|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Silent_p.L140L	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	413					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.V413L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AAGATGTTCTGTGGCACCTGG	0.423																																						uc001dgb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1237-1239)GTG>TTG		fucose-1-phosphate guanyltransferase							92.0	99.0	96.0					1																	74670968		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670968G>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1237G>T	1.37:g.74670968G>T	ENSP00000476680:p.Val413Leu					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.V38L|FPGT_uc010oqu.1_Missense_Mutation_p.V159L|FPGT_uc010oqv.1_Intron	p.V413L	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1274	+			413					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.1237G>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390077	0.25118	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.50001	0.76;0.76	5.72	3.77	0.43336	L-fucokinase (1);	.	.	.	.	T	0.18257	0.0438	.	.	.	0.80722	D	1	B;B;B	0.25048	0.117;0.039;0.003	B;B;B	0.25884	0.064;0.059;0.004	T	0.04737	-1.0930	7	.	.	.	.	11.3357	0.49503	0.0:0.2764:0.594:0.1296	.	159;38;413	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	L	413;159	ENSP00000359935:V413L;ENSP00000432819:V159L	.	V	+	1	0	TNNI3K	74443556	0.123000	0.22298	0.999000	0.59377	0.731000	0.41821	0.431000	0.21444	1.394000	0.46624	-0.211000	0.12701	GTG		PASS	0.423	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				22	124	22	124	---	---	---	---
ARHGAP29	9411	broad.mit.edu	37	1	94654471	94654471	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:94654471A>C	ENST00000260526.6	-	15	1785	c.1603T>G	c.(1603-1605)Ttt>Gtt	p.F535V	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	535					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.F535V(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AACATCCCAAATGTCCATGAT	0.358																																						uc001dqj.3																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(1603-1605)TTT>GTT		PTPL1-associated RhoGAP 1							89.0	90.0	89.0					1																	94654471		2203	4299	6502	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94654471A>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1603T>G	1.37:g.94654471A>C	ENSP00000260526:p.Phe535Val					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.F101V	p.F535V	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	15	1972	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	535					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1603T>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470077	0.26423	.	.	ENSG00000137962	ENST00000260526	T	0.19532	2.14	5.55	4.41	0.53225	.	0.000000	0.39475	N	0.001349	T	0.03651	0.0104	N	0.05441	-0.05	0.80722	D	1	B;B	0.23591	0.005;0.088	B;B	0.25759	0.004;0.063	T	0.30179	-0.9987	10	0.10377	T	0.69	-11.2122	10.363	0.44006	0.6971:0.3029:0.0:0.0	.	535;535	F8VWZ8;Q52LW3	.;RHG29_HUMAN	V	535	ENSP00000260526:F535V	ENSP00000260526:F535V	F	-	1	0	ARHGAP29	94427059	0.994000	0.37717	0.996000	0.52242	0.966000	0.64601	2.226000	0.42963	2.330000	0.79161	0.477000	0.44152	TTT		PASS	0.358	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		19	107	19	107	---	---	---	---
FAM19A3	284467	broad.mit.edu	37	1	113264887	113264887	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:113264887C>T	ENST00000361886.3	+	2	91	c.32C>T	c.(31-33)aCg>aTg	p.T11M	FAM19A3_ENST00000369630.3_Missense_Mutation_p.T11M	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	11						extracellular region (GO:0005576)		p.T11M(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAGCACGGGCGGCTGG	0.642																																						uc001ecv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)ACG>ATG		family with sequence similarity 19 (chemokine							90.0	88.0	89.0					1																	113264887		2203	4300	6503	SO:0001583	missense	284467					extracellular region		g.chr1:113264887C>T	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.32C>T	1.37:g.113264887C>T	ENSP00000355042:p.Thr11Met					FAM19A3_uc001ecu.2_Missense_Mutation_p.T11M|FAM19A3_uc010owk.1_RNA|FAM19A3_uc010owl.1_RNA	p.T11M	NM_182759	NP_877436	Q7Z5A8	F19A3_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	101	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	11					B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	ENST00000361886.3	37	c.32C>T	CCDS856.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475858	0.44044	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.83	2.84	0.33178	.	0.817608	0.10311	N	0.689992	T	0.11067	0.0270	N	0.25647	0.755	0.09310	N	1	B;P	0.45348	0.431;0.856	B;B	0.40228	0.086;0.323	T	0.09378	-1.0677	9	0.45353	T	0.12	2.0201	8.3662	0.32389	0.0:0.6259:0.2935:0.0806	.	11;11	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	M	11	.	ENSP00000355042:T11M	T	+	2	0	FAM19A3	113066410	0.000000	0.05858	0.003000	0.11579	0.886000	0.51366	-0.139000	0.10358	0.327000	0.23409	0.561000	0.74099	ACG		PASS	0.642	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759		27	141	27	141	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115222975	115222975	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:115222975G>T	ENST00000520113.2	-	6	786	c.771C>A	c.(769-771)gtC>gtA	p.V257V	AMPD1_ENST00000353928.6_Silent_p.V224V|AMPD1_ENST00000369538.3_Silent_p.V253V			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	257					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.V224V(1)|p.V257V(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATCTTTGCTGACTGCTGCTT	0.443																																						uc001efe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(670-672)GTC>GTA		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						196.0	180.0	185.0					1																	115222975		2203	4300	6503	SO:0001819	synonymous_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222975G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.771C>A	1.37:g.115222975G>T						AMPD1_uc001eff.1_Silent_p.V220V	p.V224V	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	756	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	224					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Silent	SNP	ENST00000520113.2	37	c.672C>A	CCDS876.2																																																																																				PASS	0.443	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			21	139	21	139	---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118497236	118497236	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:118497236T>A	ENST00000349139.5	+	23	2442	c.2395T>A	c.(2395-2397)Tat>Aat	p.Y799N	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	799						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y799N(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CCTAATGGCTTATGGCAGTAT	0.358																																						uc010oxe.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2395-2397)TAT>AAT		WD repeat-containing protein 3							140.0	138.0	139.0					1																	118497236		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118497236T>A	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2395T>A	1.37:g.118497236T>A	ENSP00000308179:p.Tyr799Asn					WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	p.Y799N	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	23	2461	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	799						Missense_Mutation	SNP	ENST00000349139.5	37	c.2395T>A	CCDS898.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174819	0.57692	.	.	ENSG00000065183	ENST00000349139	T	0.54279	0.58	5.53	3.23	0.37069	.	0.344763	0.34853	N	0.003636	T	0.39462	0.1079	M	0.81802	2.56	0.80722	D	1	B	0.30455	0.28	B	0.33568	0.166	T	0.43212	-0.9405	10	0.45353	T	0.12	-8.7301	9.0273	0.36239	0.0:0.1515:0.0:0.8485	.	799	Q9UNX4	WDR3_HUMAN	N	799	ENSP00000308179:Y799N	ENSP00000308179:Y799N	Y	+	1	0	WDR3	118298759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.989000	0.40707	1.047000	0.40274	0.491000	0.48974	TAT		PASS	0.358	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		23	118	23	118	---	---	---	---
PRDX6	9588	broad.mit.edu	37	1	173455423	173455423	+	Silent	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:173455423G>C	ENST00000340385.5	+	4	561	c.429G>C	c.(427-429)ctG>ctC	p.L143L	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	143	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.L143L(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATAAGAAGCTGAAGCTGTCTA	0.448																																						uc001giy.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(427-429)CTG>CTC		peroxiredoxin 6							151.0	160.0	157.0					1																	173455423		2203	4300	6503	SO:0001819	synonymous_variant	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173455423G>C	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.429G>C	1.37:g.173455423G>C							p.L143L	NM_004905	NP_004896	P30041	PRDX6_HUMAN			4	480	+			143			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Silent	SNP	ENST00000340385.5	37	c.429G>C	CCDS1307.1																																																																																				PASS	0.448	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		41	258	41	258	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179604969	179604969	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:179604969G>T	ENST00000367614.1	+	9	1826	c.1467G>T	c.(1465-1467)cgG>cgT	p.R489R	TDRD5_ENST00000444136.1_Silent_p.R489R|TDRD5_ENST00000294848.8_Silent_p.R489R	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	489					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R489R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTACATCCGGATCTATAGCA	0.418																																						uc001gnf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1465-1467)CGG>CGT		tudor domain containing 5							106.0	102.0	103.0					1																	179604969		2203	4300	6503	SO:0001819	synonymous_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179604969G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1467G>T	1.37:g.179604969G>T						TDRD5_uc010pnp.1_Silent_p.R489R|TDRD5_uc001gnh.1_Silent_p.R44R	p.R489R	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			9	1717	+			489					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	37	c.1467G>T	CCDS1332.1																																																																																				PASS	0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		12	102	12	102	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183495814	183495814	+	Silent	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:183495814A>G	ENST00000347615.2	+	5	515	c.396A>G	c.(394-396)aaA>aaG	p.K132K	SMG7_ENST00000367537.3_Silent_p.K161K|SMG7_ENST00000508461.1_Silent_p.K90K|SMG7_ENST00000507469.1_Silent_p.K132K|SMG7_ENST00000456731.2_Silent_p.K90K|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Silent_p.K132K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	132					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.K132K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAGCAATAAACAGACGCATA	0.433																																						uc001gqg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(394-396)AAA>AAG		SMG-7 homolog isoform 1							214.0	193.0	200.0					1																	183495814		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495814A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.396A>G	1.37:g.183495814A>G						SMG7_uc010pob.1_Silent_p.K161K|SMG7_uc001gqf.2_Silent_p.K132K|SMG7_uc001gqh.2_Silent_p.K132K|SMG7_uc001gqi.2_Silent_p.K90K|SMG7_uc010poc.1_Silent_p.K90K	p.K132K	NM_173156	NP_775179	Q92540	SMG7_HUMAN			5	518	+			132					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.396A>G	CCDS1355.1																																																																																				PASS	0.433	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		29	231	29	231	---	---	---	---
LMOD1	25802	broad.mit.edu	37	1	201868784	201868784	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:201868784G>A	ENST00000367288.4	-	2	1603	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	453					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.H453Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTCAAAATGGTAGCCCAGC	0.572																																						uc001gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1357-1359)CAT>TAT		leiomodin 1 (smooth muscle)							47.0	50.0	49.0					1																	201868784		2050	4183	6233	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868784G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1357C>T	1.37:g.201868784G>A	ENSP00000356257:p.His453Tyr					LMOD1_uc010ppu.1_Missense_Mutation_p.H402Y	p.H453Y	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	1605	-			453					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1357C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306285	0.81247	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.91792	-2.91	4.4	4.4	0.53042	.	0.000000	0.39615	N	0.001315	D	0.94082	0.8103	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.988;0.992	D	0.94771	0.7945	10	0.87932	D	0	-20.1478	14.4962	0.67688	0.0:0.0:1.0:0.0	.	402;453	B4E3S9;P29536	.;LMOD1_HUMAN	Y	453;453;402	ENSP00000356257:H453Y	ENSP00000356257:H453Y	H	-	1	0	LMOD1	200135407	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	1.962000	0.57031	0.557000	0.71058	CAT		PASS	0.572	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			6	26	6	26	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848335	215848336	+	Missense_Mutation	DNP	GA	GA	TT	rs192709780		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:215848335_215848336GA>TT	ENST00000307340.3	-	63	13303_13304	c.12917_12918TC>AA	c.(12916-12918)cTC>cAA	p.L4306Q	USH2A_ENST00000366943.2_Missense_Mutation_p.L4306Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4306	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L4306L(1)|p.L4306Q(1)|p.L4306H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAAAAGGATAGAGCATTTCATT	0.416										HNSCC(13;0.011)																												uc001hku.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12916-12918)CTC>CTA|c.(12916-12918)CTC>CAC		usherin isoform B																																				SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848335G>T|g.chr1:215848336A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12917_12918delinsTT	1.37:g.215848335_215848336delinsTT	ENSP00000305941:p.Leu4306Gln	HNSCC(13;0.011)					p.L4306L|p.L4306H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13305|13304	-			4306			Fibronectin type-III 28.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent|Missense_Mutation	SNP	ENST00000307340.3	37	c.12918C>A|c.12917T>A	CCDS31025.1																																																																																				PASS	0.416	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	107|108	16	107	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947904	237947904	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:237947904G>A	ENST00000366574.2	+	90	13209	c.12892G>A	c.(12892-12894)Gtg>Atg	p.V4298M	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V4282M|RYR2_ENST00000360064.6_Missense_Mutation_p.V4304M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4298					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4296M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTGCACTTCGTGGCCAGCGT	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12892-12894)GTG>ATG		cardiac muscle ryanodine receptor							74.0	73.0	73.0					1																	237947904		1910	4118	6028	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947904G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12892G>A	1.37:g.237947904G>A	ENSP00000355533:p.Val4298Met					RYR2_uc010pya.1_Missense_Mutation_p.V713M	p.V4298M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13012	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4298			Helical; Name=M4; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12892G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446188	0.25987	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96716	-0.32;-4.1;-0.32	5.11	4.12	0.48240	.	0.384288	0.20069	N	0.099910	D	0.93184	0.7829	L	0.55990	1.75	0.09310	N	0.999995	P;P	0.41524	0.753;0.71	B;B	0.36186	0.219;0.181	D	0.87535	0.2455	10	0.33141	T	0.24	-10.4943	11.6494	0.51279	0.1385:0.0:0.8615:0.0	.	1272;4298	B4DGV4;Q92736	.;RYR2_HUMAN	M	4298;4304;4282;1272	ENSP00000355533:V4298M;ENSP00000353174:V4304M;ENSP00000443798:V4282M	ENSP00000353174:V4304M	V	+	1	0	RYR2	236014527	0.182000	0.23173	0.359000	0.25824	0.834000	0.47266	2.556000	0.45862	2.657000	0.90304	0.655000	0.94253	GTG		PASS	0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	51	13	51	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247614352	247614352	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:247614352C>T	ENST00000318749.6	-	1	956	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R311R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCTCCAGATCCTGGCCAGAA	0.453																																						uc010pyx.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(931-933)AGG>AGA		olfactory receptor, family 2, subfamily B,							198.0	210.0	206.0					1																	247614352		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614352C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.933G>A	1.37:g.247614352C>T							p.R311R	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	933	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	311			Cytoplasmic (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.933G>A	CCDS31090.1																																																																																				PASS	0.453	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		47	294	47	294	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875519	247875519	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr1:247875519T>A	ENST00000302084.2	-	1	586	c.539A>T	c.(538-540)gAc>gTc	p.D180V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D180V(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGTGCAATGTCACAGAAGAA	0.567																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GAC>GTC		olfactory receptor, family 6, subfamily F,							98.0	98.0	98.0					1																	247875519		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875519T>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.539A>T	1.37:g.247875519T>A	ENSP00000305640:p.Asp180Val						p.D180V	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	539	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		180			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.539A>T	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570374	0.65765	.	.	ENSG00000169214	ENST00000302084	T	0.00193	8.58	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000299	T	0.00875	0.0029	H	0.96720	3.87	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.47923	-0.9079	10	0.87932	D	0	-45.5671	12.1482	0.54036	0.0:0.0:0.0:1.0	.	180	Q8NGZ6	OR6F1_HUMAN	V	180	ENSP00000305640:D180V	ENSP00000305640:D180V	D	-	2	0	OR6F1	245942142	1.000000	0.71417	0.993000	0.49108	0.701000	0.40568	6.591000	0.74090	1.793000	0.52555	0.482000	0.46254	GAC		PASS	0.567	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		18	94	18	94	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1691427	1691427	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:1691427C>G	ENST00000252804.4	-	4	443	c.393G>C	c.(391-393)aaG>aaC	p.K131N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	131					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.K131N(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGCAAGTCCCTTAAATGCTT	0.468																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(391-393)AAG>AAC		peroxidasin precursor							82.0	80.0	81.0					2																	1691427		1966	4144	6110	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1691427C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.393G>C	2.37:g.1691427C>G	ENSP00000252804:p.Lys131Asn					PXDN_uc002qxb.1_Missense_Mutation_p.K131N|PXDN_uc002qxc.1_Intron	p.K131N	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	4	457	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	131			LRR 2.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.393G>C	CCDS46221.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.68|14.68|14.68	2.606947|2.606947|2.606947	0.46527|0.46527|0.46527	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000252804|ENST00000433670	.|T|.	.|0.58797|.	.|0.31|.	5.66|5.66|5.66	5.66|5.66|5.66	0.87406|0.87406|0.87406	.|.|.	.|0.101900|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.35595|0.35595|0.35595	0.0937|0.0937|0.0937	N|N|N	0.11870|0.11870|0.11870	0.19|0.19|0.19	0.44754|0.44754|0.44754	D|D|D	0.997759|0.997759|0.997759	.|B;D|.	.|0.53745|.	.|0.121;0.962|.	.|B;P|.	.|0.54210|.	.|0.063;0.745|.	T|T|T	0.20009|0.20009|0.20009	-1.0288|-1.0288|-1.0288	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-45.4568|-45.4568|-45.4568	7.4119|7.4119|7.4119	0.27021|0.27021|0.27021	0.0:0.7998:0.0:0.2002|0.0:0.7998:0.0:0.2002|0.0:0.7998:0.0:0.2002	.|.|.	.|131;131|.	.|Q92626-2;Q92626|.	.|.;PXDN_HUMAN|.	R|N|T	55|131|127	.|ENSP00000252804:K131N|.	.|ENSP00000252804:K131N|.	G|K|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1670434|1670434|1670434	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	3.901000|3.901000|3.901000	0.56303|0.56303|0.56303	2.665000|2.665000|2.665000	0.90641|0.90641|0.90641	0.609000|0.609000|0.609000	0.83330|0.83330|0.83330	GGG|AAG|AGG		PASS	0.468	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		4	30	4	30	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11342232	11342232	+	Silent	SNP	T	T	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:11342232T>G	ENST00000315872.6	-	21	3013	c.2565A>C	c.(2563-2565)gcA>gcC	p.A855A	ROCK2_ENST00000401753.1_Silent_p.A612A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	855					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.A855A(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGCCCATCTGCATCCTGAC	0.408																																						uc002rbd.1																			2	Substitution - coding silent(2)		lung(2)	stomach(2)|skin(2)	4						c.(2563-2565)GCA>GCC		Rho-associated, coiled-coil containing protein							209.0	189.0	196.0					2																	11342232		1908	4123	6031	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11342232T>G	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2565A>C	2.37:g.11342232T>G							p.A855A	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	21	3014	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		855			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.2565A>C	CCDS42654.1																																																																																				PASS	0.408	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			19	178	19	178	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915374	48915374	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:48915374G>T	ENST00000294954.7	-	11	1583	c.1562C>A	c.(1561-1563)aCc>aAc	p.T521N	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.T459N|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.T494N|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	521					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.T521N(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGAGAGAGTGGTTTCCACATC	0.403																																						uc002rwu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1561-1563)ACC>AAC		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						111.0	111.0	111.0					2																	48915374		2203	4300	6503	SO:0001583	missense	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915374G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1562C>A	2.37:g.48915374G>T	ENSP00000294954:p.Thr521Asn					GTF2A1L_uc002rwt.2_Intron	p.T521N	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1632	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	521			Extracellular (Potential).		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1562C>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772305	0.31411	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.39997	1.05;1.05;1.05	5.68	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.524006	0.21304	N	0.076742	T	0.42017	0.1184	L	0.60845	1.875	0.42535	D	0.993054	B	0.25904	0.137	B	0.28849	0.095	T	0.21042	-1.0257	9	.	.	.	.	15.3757	0.74602	0.0:0.2803:0.7197:0.0	.	521	P22888	LSHR_HUMAN	N	459;521;494	ENSP00000344301:T459N;ENSP00000294954:T521N;ENSP00000386033:T494N	.	T	-	2	0	LHCGR	48768878	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	2.689000	0.46993	0.743000	0.32719	0.585000	0.79938	ACC		PASS	0.403	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		13	102	13	102	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746099	77746099	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:77746099G>A	ENST00000409093.1	-	3	1232	c.896C>T	c.(895-897)gCg>gTg	p.A299V	LRRTM4_ENST00000409911.1_Missense_Mutation_p.A300V|LRRTM4_ENST00000409088.3_Missense_Mutation_p.A299V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A299V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A300V			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	299					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A299V(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGATATCCACGCATTGACAGT	0.373																																						uc002snr.2																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(895-897)GCG>GTG		leucine rich repeat transmembrane neuronal 4							45.0	41.0	42.0					2																	77746099		1859	4114	5973	SO:0001583	missense	80059					integral to membrane		g.chr2:77746099G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.896C>T	2.37:g.77746099G>A	ENSP00000386357:p.Ala299Val					LRRTM4_uc002snq.2_Missense_Mutation_p.A299V|LRRTM4_uc002sns.2_Missense_Mutation_p.A299V|LRRTM4_uc002snt.2_Missense_Mutation_p.A300V	p.A299V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1311	-			299			LRR 10.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.896C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488599	0.44249	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.84	5.84	0.93424	.	0.163834	0.53938	D	0.000048	T	0.07458	0.0188	L	0.35644	1.08	0.47094	D	0.999318	B;B;B	0.30439	0.132;0.109;0.279	B;B;B	0.34138	0.104;0.063;0.176	T	0.33650	-0.9860	10	0.44086	T	0.13	.	18.6944	0.91594	0.0:0.0:1.0:0.0	.	300;299;299	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	V	300;299;299;299;300	ENSP00000387228:A300V;ENSP00000387297:A299V;ENSP00000386357:A299V;ENSP00000386236:A299V;ENSP00000386286:A300V	ENSP00000386236:A299V	A	-	2	0	LRRTM4	77599607	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.895000	0.87343	2.751000	0.94390	0.655000	0.94253	GCG		PASS	0.373	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		7	37	7	37	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79312367	79312368	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:79312367_79312368GA>TT	ENST00000305089.3	-	6	555_556	c.475_476TC>AA	c.(475-477)TCc>AAc	p.S159N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.S159N(1)|p.S159T(1)|p.S159Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCAAACAAAGGAGAACTTCTTC	0.386																																						uc002sny.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)|skin(1)	2						c.(475-477)TCC>TAC|c.(475-477)TCC>ACC		regenerating islet-derived 1 beta precursor																																				SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312367G>T|g.chr2:79312368A>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.475_476delinsTT	2.37:g.79312367_79312368delinsTT	ENSP00000303206:p.Ser159Asn						p.S159Y|p.S159T	NM_006507	NP_006498	P48304	REG1B_HUMAN			6	588|587	-			159			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.476C>A|c.475T>A	CCDS1963.1																																																																																				PASS	0.386	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		7|8	60	7	60	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136579614	136579614	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:136579614C>T	ENST00000264162.2	-	5	972	c.962G>A	c.(961-963)aGt>aAt	p.S321N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	321	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S321N(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGATGAACAACTCAGAAACTC	0.318																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(961-963)AGT>AAT		lactase-phlorizin hydrolase preproprotein							138.0	141.0	140.0					2																	136579614		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136579614C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.962G>A	2.37:g.136579614C>T	ENSP00000264162:p.Ser321Asn					uc002tuv.1_RNA	p.S321N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	973	-			321			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.962G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320741	0.41096	.	.	ENSG00000115850	ENST00000264162	T	0.26957	1.7	5.3	-0.979	0.10276	.	1.079280	0.07019	N	0.826477	T	0.15955	0.0384	L	0.27053	0.805	0.21184	N	0.999761	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	10	0.32370	T	0.25	-2.3617	5.5458	0.17063	0.0:0.2837:0.1497:0.5666	.	321	P09848	LPH_HUMAN	N	321	ENSP00000264162:S321N	ENSP00000264162:S321N	S	-	2	0	LCT	136296084	0.985000	0.35326	0.943000	0.38184	0.993000	0.82548	0.493000	0.22451	-0.169000	0.10834	0.655000	0.94253	AGT		PASS	0.318	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		10	69	10	69	---	---	---	---
PSMD14	10213	broad.mit.edu	37	2	162242083	162242083	+	Splice_Site	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:162242083G>C	ENST00000409682.3	+	8	1274		c.e8+1			NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						ATCTATCCAGGTATTGCCTAT	0.318																																						uc002ubu.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e8+1		proteasome 26S subunit, non-ATPase 14							68.0	63.0	64.0					2																	162242083		1832	4082	5914	SO:0001630	splice_region_variant	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162242083G>C	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.570+1G>C	2.37:g.162242083G>C							p.Q190_splice	NM_005805	NP_005796	O00487	PSDE_HUMAN			8	1037	+								B3KNW2|O00176	Splice_Site	SNP	ENST00000409682.3	37	c.570_splice	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563607	0.65651	.	.	ENSG00000115233	ENST00000409682	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3123	0.94195	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMD14	161950329	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.562000	0.86427	0.460000	0.39030	.		PASS	0.318	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805	Intron	5	48	5	48	---	---	---	---
GCG	2641	broad.mit.edu	37	2	163003990	163003990	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:163003990C>T	ENST00000418842.2	-	3	381	c.127G>A	c.(127-129)Gat>Aat	p.D43N	GCG_ENST00000375497.3_Missense_Mutation_p.D43N	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	43					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.D43N(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGATCAGGATCACTGAGTGGG	0.483																																						uc002ucc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(127-129)GAT>AAT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)						273.0	270.0	271.0					2																	163003990		2040	4193	6233	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163003990C>T		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.127G>A	2.37:g.163003990C>T	ENSP00000387662:p.Asp43Asn						p.D43N	NM_002054	NP_002045	P01275	GLUC_HUMAN			3	226	-			43					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.127G>A	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780282	0.49891	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.51817	0.69;0.69	5.64	3.86	0.44501	.	0.376030	0.32273	N	0.006332	T	0.45418	0.1341	L	0.58669	1.825	0.47407	D	0.999412	B	0.19200	0.034	B	0.21546	0.035	T	0.45293	-0.9271	10	0.87932	D	0	25.9301	12.0396	0.53446	0.0:0.8625:0.0:0.1375	.	43	P01275	GLUC_HUMAN	N	43	ENSP00000387662:D43N;ENSP00000364647:D43N	ENSP00000364647:D43N	D	-	1	0	GCG	162712236	0.994000	0.37717	0.013000	0.15412	0.003000	0.03518	4.188000	0.58351	0.942000	0.37525	-0.142000	0.14014	GAT		PASS	0.483	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		51	282	51	282	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175618289	175618289	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:175618289G>T	ENST00000261007.5	-	7	861	c.795C>A	c.(793-795)atC>atA	p.I265I	CHRNA1_ENST00000348749.5_Silent_p.I240I|CHRNA1_ENST00000409542.1_Silent_p.I158I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.I240I|CHRNA1_ENST00000409323.1_Silent_p.I240I	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	265					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.I265I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GCAGGCAGGGGATGATGACGT	0.582																																						uc002ujd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(793-795)ATC>ATA		nicotinic cholinergic receptor alpha 1 isoform a							242.0	216.0	225.0					2																	175618289		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618289G>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.795C>A	2.37:g.175618289G>T						uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.I240I|CHRNA1_uc002ujf.3_Silent_p.I240I	p.I265I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			7	873	-			265			Helical.		B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.795C>A	CCDS33331.1																																																																																				PASS	0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			19	130	19	130	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179236930	179236930	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:179236930C>T	ENST00000190611.4	+	14	1741	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409045.3_Silent_p.V424V|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000392505.2_Silent_p.V480V|OSBPL6_ENST00000315022.2_Silent_p.V459V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	455					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.V480V(1)|p.V455V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATCAGGTTGTCAGTGTAAATA	0.328																																						uc002ulx.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1363-1365)GTC>GTT		oxysterol-binding protein-like protein 6 isoform							131.0	135.0	133.0					2																	179236930		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179236930C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1365C>T	2.37:g.179236930C>T						OSBPL6_uc002ulw.2_Intron|OSBPL6_uc002uly.2_Silent_p.V480V|OSBPL6_uc010zfe.1_Silent_p.V424V|OSBPL6_uc002ulz.2_Intron|OSBPL6_uc002uma.2_Silent_p.V459V	p.V455V	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		14	1743	+			455					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.1365C>T	CCDS2277.1																																																																																				PASS	0.328	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		6	69	6	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425376	179425376	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:179425376G>T	ENST00000591111.1	-	276	80784	c.80560C>A	c.(80560-80562)Cac>Aac	p.H26854N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19430N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H28495N|TTN_ENST00000342992.6_Missense_Mutation_p.H25927N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H19555N|TTN_ENST00000342175.6_Missense_Mutation_p.H19622N|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26854	Fibronectin type-III 95. {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.H25925N(1)|p.H19555N(1)|p.H19430N(1)|p.H19622N(1)|p.H25927N(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)			CATGCAAGGTGGCTTGTTTCA	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.(77779-77781)CAC>AAC		titin isoform N2-A							57.0	57.0	57.0					2																	179425376		1968	4152	6120	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425376G>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.80560C>A	2.37:g.179425376G>T	ENSP00000465570:p.His26854Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.H19622N|TTN_uc010zfi.1_Missense_Mutation_p.H19555N|TTN_uc010zfj.1_Missense_Mutation_p.H19430N	p.H25927N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78003	-			26854					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.77779C>A		.	.	.	.	.	.	.	.	.	.	G	11.69	1.712716	0.30413	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.97	4.11	0.48088	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32285	0.0824	N	0.08118	0	0.22947	N	0.998528	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.17979	0.011;0.011;0.02;0.02	T	0.35943	-0.9768	9	0.87932	D	0	.	15.276	0.73742	0.0:0.0:0.6185:0.3815	.	19430;19555;19622;26854	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	25927;19430;19622;19555;19427	ENSP00000343764:H25927N;ENSP00000434586:H19430N;ENSP00000340554:H19622N;ENSP00000352154:H19555N	ENSP00000340554:H19622N	H	-	1	0	TTN	179133622	1.000000	0.71417	0.723000	0.30687	0.993000	0.82548	5.289000	0.65656	1.510000	0.48803	0.655000	0.94253	CAC		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	68	7	68	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576077	179576077	+	Splice_Site	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:179576077C>T	ENST00000591111.1	-	95	27160		c.e95-1		TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(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)			AGTTTTTGCTCTGTAGGAACA	0.323																																						uc010zfg.1																			1	Unknown(1)		lung(1)	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.e94-1		titin isoform N2-A							55.0	52.0	53.0					2																	179576077		1828	4071	5899	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576077C>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.26936-1G>A	2.37:g.179576077C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E4713_splice	p.E8052_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24379	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37	c.24155_splice		.	.	.	.	.	.	.	.	.	.	C	18.13	3.556117	0.65425	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179284322	1.000000	0.71417	0.999000	0.59377	0.564000	0.35744	4.442000	0.59988	2.795000	0.96236	0.655000	0.94253	.		PASS	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	16	73	16	73	---	---	---	---
SLC23A3	151295	broad.mit.edu	37	2	220034386	220034386	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:220034386C>T	ENST00000409878.3	-	2	209	c.177G>A	c.(175-177)atG>atA	p.M59I	SLC23A3_ENST00000455516.2_Missense_Mutation_p.M59I|SLC23A3_ENST00000295738.7_Missense_Mutation_p.M59I|SLC23A3_ENST00000396775.3_Start_Codon_SNP_p.M1I	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.M59I(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGAAGCCATGACCAAGA	0.532																																						uc010zks.1																			2	Substitution - Missense(2)		lung(2)		0						c.(175-177)ATG>ATA		solute carrier family 23 (nucleobase							62.0	81.0	74.0					2																	220034386		2101	4228	6329	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220034386C>T	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.177G>A	2.37:g.220034386C>T	ENSP00000386473:p.Met59Ile					NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Missense_Mutation_p.M59I|SLC23A3_uc010fwb.2_Missense_Mutation_p.M59I|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	p.M59I	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	288	-		Renal(207;0.0474)	59			Helical; (Potential).		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.177G>A	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542977	0.45280	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.34072	2.09;2.09;2.09;2.09;1.38	5.18	4.31	0.51392	.	0.417145	0.20140	N	0.098395	T	0.30510	0.0767	L	0.43152	1.355	0.80722	D	1	B;B;B	0.14438	0.01;0.0;0.0	B;B;B	0.13407	0.009;0.002;0.001	T	0.06180	-1.0841	9	.	.	.	.	13.0798	0.59107	0.0:0.9209:0.0:0.0791	.	59;59;59	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	I	1;59;59;59;59;59	ENSP00000295738:M59I;ENSP00000386473:M59I;ENSP00000406546:M59I;ENSP00000386989:M59I;ENSP00000388907:M59I	.	M	-	3	0	SLC23A3	219742630	0.889000	0.30405	0.894000	0.35097	0.907000	0.53573	1.233000	0.32648	1.424000	0.47217	0.655000	0.94253	ATG		PASS	0.532	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		8	51	8	51	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231120221	231120221	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr2:231120221C>T	ENST00000392045.3	+	12	1328	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	SP140_ENST00000350136.5_Missense_Mutation_p.S274F|SP140_ENST00000420434.3_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.S345F|SP140_ENST00000417495.3_Missense_Mutation_p.S291F|SP140_ENST00000486687.2_Missense_Mutation_p.S329F	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	405					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S405F(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAGGAAGCCTCTAGCTCCCTA	0.547																																						uc002vql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)TCT>TTT		SP140 nuclear body protein isoform 1							88.0	83.0	84.0					2																	231120221		1911	4108	6019	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231120221C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1214C>T	2.37:g.231120221C>T	ENSP00000375899:p.Ser405Phe					SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Missense_Mutation_p.S371F|SP140_uc002vqn.2_Missense_Mutation_p.S291F|SP140_uc002vqm.2_Missense_Mutation_p.S345F|SP140_uc010fxl.2_Intron	p.S405F	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	12	1329	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	405					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1214C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	c	9.583	1.124186	0.20959	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000343805	T;T;T;T	0.58060	0.56;0.72;0.62;0.36	2.66	-5.31	0.02730	.	.	.	.	.	T	0.46405	0.1391	L	0.52573	1.65	0.09310	N	1	P;P;P	0.50528	0.764;0.848;0.936	B;B;P	0.48454	0.081;0.262;0.578	T	0.44221	-0.9342	9	0.30078	T	0.28	-0.0572	7.959	0.30060	0.0:0.5854:0.2447:0.1699	.	291;345;405	E7ESH9;E9PFJ6;Q13342	.;.;LY10_HUMAN	F	329;274;405;345	ENSP00000440107:S329F;ENSP00000345846:S274F;ENSP00000375899:S405F;ENSP00000342096:S345F	ENSP00000342096:S345F	S	+	2	0	SP140	230828465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.229000	0.00549	-2.771000	0.00365	-0.400000	0.06385	TCT		PASS	0.547	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		14	98	14	98	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9036126	9036126	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:9036126G>A	ENST00000383836.3	-	19	2736	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S746L	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	770	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S770L(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CAGGAGCAGCGAGGCCCCCTT	0.587			T	RAF1	pilocytic astrocytoma																																	uc003brf.1				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2308-2310)TCG>TTG		SLIT-ROBO Rho GTPase activating protein 3							75.0	75.0	75.0					3																	9036126		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036126G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2309C>T	3.37:g.9036126G>A	ENSP00000373347:p.Ser770Leu					SRGAP3_uc003brg.1_Missense_Mutation_p.S746L	p.S770L	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2985	-			770			SH3.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2309C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870722	0.91587	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.39229	1.09;1.09	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.39245	1.2	0.80722	D	1	D;B	0.69078	0.997;0.241	D;B	0.66847	0.947;0.098	T	0.51694	-0.8673	10	0.37606	T	0.19	.	18.1343	0.89612	0.0:0.0:1.0:0.0	.	746;770	O43295-2;O43295	.;SRGP2_HUMAN	L	770;746	ENSP00000373347:S770L;ENSP00000353587:S746L	ENSP00000353587:S746L	S	-	2	0	SRGAP3	9011126	1.000000	0.71417	0.942000	0.38095	0.944000	0.59088	9.727000	0.98787	2.433000	0.82419	0.650000	0.86243	TCG		PASS	0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			15	73	15	73	---	---	---	---
TMPPE	643853	broad.mit.edu	37	3	33135655	33135655	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:33135655C>T	ENST00000342462.4	-	2	223	c.33G>A	c.(31-33)gcG>gcA	p.A11A	GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	11						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A11A(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGTGGCCTTCGCGCCTAGGG	0.587																																						uc003cfk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(31-33)GCG>GCA		transmembrane protein with																																				SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33135655C>T	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.33G>A	3.37:g.33135655C>T						GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	p.A11A	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN			2	224	-			11			Helical; (Potential).		B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.33G>A	CCDS33732.1																																																																																				PASS	0.587	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		14	71	14	71	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38138086	38138086	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:38138086C>T	ENST00000308059.6	+	15	2219	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	DLEC1_ENST00000346219.3_Missense_Mutation_p.S733F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S733F					deleted in lung and esophageal cancer 1									p.S733F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTGGGGCACTCCTCCTACTCT	0.532																																						uc003cho.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(2197-2199)TCC>TTC		deleted in lung and esophageal cancer 1 isoform							116.0	113.0	114.0					3																	38138086		1951	4154	6105	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138086C>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2198C>T	3.37:g.38138086C>T	ENSP00000308597:p.Ser733Phe					DLEC1_uc003chp.1_Missense_Mutation_p.S733F|DLEC1_uc010hgv.1_Missense_Mutation_p.S733F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_RNA	p.S733F	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2219	+			733						Missense_Mutation	SNP	ENST00000308059.6	37	c.2198C>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	7.074	0.568979	0.13560	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05786	3.41;3.39;3.63	4.41	-4.66	0.03329	.	4.061060	0.00559	N	0.000274	T	0.04182	0.0116	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28820	0.224;0.224;0.224	B;B;B	0.27608	0.062;0.081;0.062	T	0.30475	-0.9977	10	0.26408	T	0.33	-0.0125	0.1554	0.00097	0.3071:0.1505:0.215:0.3274	.	733;733;733	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	F	733	ENSP00000308597:S733F;ENSP00000315914:S733F;ENSP00000410427:S733F	ENSP00000308597:S733F	S	+	2	0	DLEC1	38113090	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.698000	0.05092	-0.856000	0.04120	-0.150000	0.13652	TCC		PASS	0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		20	118	20	118	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43621948	43621948	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:43621948C>T	ENST00000292246.3	-	5	659	c.489G>A	c.(487-489)acG>acA	p.T163T	ANO10_ENST00000451430.2_Silent_p.T52T|ANO10_ENST00000414522.2_Silent_p.T163T|ANO10_ENST00000396091.3_Silent_p.T97T|ANO10_ENST00000350459.4_Silent_p.T163T	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	163					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.T163T(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CGATGCCAGACGTGAGCAATC	0.473																																						uc003cmv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(487-489)ACG>ACA		transmembrane protein 16K							144.0	112.0	123.0					3																	43621948		2203	4300	6503	SO:0001819	synonymous_variant	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43621948C>T	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.489G>A	3.37:g.43621948C>T						ANO10_uc011azs.1_Silent_p.T163T|ANO10_uc003cmw.2_Silent_p.T97T|ANO10_uc010hil.2_Silent_p.T163T|ANO10_uc011azt.1_Silent_p.T52T	p.T163T	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			5	660	-			163			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	c.489G>A	CCDS2710.2																																																																																				PASS	0.473	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		8	60	8	60	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111993834	111993834	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:111993834T>A	ENST00000305815.5	-	6	775	c.523A>T	c.(523-525)Agt>Tgt	p.S175C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S175C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	175					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.S175C(1)									GTCATCAGACTTTCTCCATTA	0.294																																						uc003dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(523-525)AGT>TGT		sperm-specific sodium proton exchanger							41.0	47.0	45.0					3																	111993834		2196	4278	6474	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111993834T>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.523A>T	3.37:g.111993834T>A	ENSP00000306627:p.Ser175Cys					SLC9A10_uc011bhu.1_Translation_Start_Site|SLC9A10_uc010hqc.2_Missense_Mutation_p.S175C	p.S175C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			6	745	-			175			Helical; (Potential).		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.523A>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915709	0.33815	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.14022	2.54;2.54	5.59	2.81	0.32909	Cation/H+ exchanger (1);	0.160554	0.44902	N	0.000414	T	0.11965	0.0291	L	0.34521	1.04	0.30023	N	0.8142	B;B	0.34255	0.445;0.135	B;B	0.39531	0.302;0.084	T	0.06391	-1.0829	10	0.62326	D	0.03	-12.5088	7.7671	0.28986	0.4058:0.0:0.0:0.5942	.	175;175	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	175	ENSP00000306627:S175C;ENSP00000420688:S175C	ENSP00000306627:S175C	S	-	1	0	SLC9A10	113476524	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.624000	0.24462	1.032000	0.39892	0.496000	0.49642	AGT		PASS	0.294	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		15	96	15	96	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123667907	123667907	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:123667907T>C	ENST00000488653.2	-	6	659	c.569A>G	c.(568-570)gAg>gGg	p.E190G	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.E149G|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000489746.1_5'UTR|CCDC14_ENST00000310351.4_Missense_Mutation_p.E30G			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	190					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.E149G(1)|p.E30G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CCAGTTTTGCTCTAGGTCTGA	0.388																																						uc011bjx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(568-570)GAG>GGG		coiled-coil domain containing 14							125.0	111.0	115.0					3																	123667907		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123667907T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.569A>G	3.37:g.123667907T>C	ENSP00000420180:p.Glu190Gly					CCDC14_uc003egv.3_5'UTR|CCDC14_uc003egx.3_5'UTR|CCDC14_uc010hrt.2_Missense_Mutation_p.E149G|CCDC14_uc003egy.3_5'UTR|CCDC14_uc003egz.2_5'UTR	p.E190G	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	6	660	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	190					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.569A>G		.	.	.	.	.	.	.	.	.	.	T	1.559	-0.537111	0.04082	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000433542;ENST00000409697	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.32	0.0142	0.14099	.	0.906126	0.09273	N	0.824865	T	0.22742	0.0549	N	0.22421	0.69	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.14023	0.01;0.01	T	0.25813	-1.0121	10	0.17369	T	0.5	.	3.3205	0.07048	0.2699:0.0:0.3804:0.3497	.	190;149	Q49A88;Q49A88-6	CCD14_HUMAN;.	G	190;30;149;171	ENSP00000420180:E190G;ENSP00000312031:E30G;ENSP00000395706:E149G;ENSP00000386866:E171G	ENSP00000312031:E30G	E	-	2	0	CCDC14	125150597	0.118000	0.22208	0.000000	0.03702	0.050000	0.14768	0.208000	0.17415	0.105000	0.17753	-0.213000	0.12676	GAG		PASS	0.388	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		5	28	5	28	---	---	---	---
ATR	545	broad.mit.edu	37	3	142177868	142177868	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:142177868C>T	ENST00000350721.4	-	44	7556	c.7435G>A	c.(7435-7437)Gaa>Aaa	p.E2479K	ATR_ENST00000383101.3_Missense_Mutation_p.E2415K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2479	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.E2479K(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						AGAATATTTTCACCATGACGG	0.373								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.(7435-7437)GAA>AAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							92.0	89.0	90.0					3																	142177868		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.chr3:142177868C>T	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.7435G>A	3.37:g.142177868C>T	ENSP00000343741:p.Glu2479Lys					ATR_uc003euy.1_Missense_Mutation_p.E365K	p.E2479K	NM_001184	NP_001175	Q13535	ATR_HUMAN			44	7557	-			2479			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7435G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234942	0.95207	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	D;D	0.82433	-1.61;-1.61	4.66	4.66	0.58398	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.049890	0.85682	D	0.000000	D	0.92685	0.7675	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.94408	0.7629	10	0.72032	D	0.01	-10.868	17.8963	0.88890	0.0:1.0:0.0:0.0	.	2479	Q13535	ATR_HUMAN	K	2479;2415	ENSP00000343741:E2479K;ENSP00000372581:E2415K	ENSP00000343741:E2479K	E	-	1	0	ATR	143660558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.308000	0.77769	0.555000	0.69702	GAA		PASS	0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	33	12	33	---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145806480	145806480	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:145806480T>C	ENST00000360060.3	-	9	1075	c.898A>G	c.(898-900)Ata>Gta	p.I300V	PLOD2_ENST00000282903.5_Missense_Mutation_p.I300V|PLOD2_ENST00000494950.1_Missense_Mutation_p.I245V|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	300					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.I300V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AAAACACCTATTGATACGTTT	0.308																																						uc003evs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(898-900)ATA>GTA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						94.0	85.0	88.0					3																	145806480		2203	4296	6499	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145806480T>C	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.898A>G	3.37:g.145806480T>C	ENSP00000353170:p.Ile300Val					PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.I245V|PLOD2_uc003evr.1_Missense_Mutation_p.I300V	p.I300V	NM_000935	NP_000926	O00469	PLOD2_HUMAN			9	1404	-			300					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.898A>G	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	T	7.501	0.652600	0.14580	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.83755	-1.76;-1.76;-1.76	5.33	1.55	0.23275	.	0.167172	0.56097	D	0.000033	T	0.56499	0.1989	N	0.04880	-0.145	0.32533	N	0.534664	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.0;0.001;0.005	T	0.42464	-0.9450	10	0.13470	T	0.59	-3.7807	1.9784	0.03421	0.1272:0.1442:0.1404:0.5882	.	245;300;300	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	V	300;300;245	ENSP00000282903:I300V;ENSP00000353170:I300V;ENSP00000420094:I245V	ENSP00000282903:I300V	I	-	1	0	PLOD2	147289170	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.283000	0.33237	0.335000	0.23614	0.528000	0.53228	ATA		PASS	0.308	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		6	55	6	55	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148558740	148558740	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:148558740G>T	ENST00000491148.1	+	6	786	c.452G>T	c.(451-453)gGa>gTa	p.G151V	CPB1_ENST00000282957.4_Missense_Mutation_p.G151V			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	151						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G151V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACATTTGAGGGACGCGCTATT	0.428																																						uc003ewl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(451-453)GGA>GTA		pancreatic carboxypeptidase B1 preproprotein							146.0	129.0	135.0					3																	148558740		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148558740G>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.452G>T	3.37:g.148558740G>T	ENSP00000417222:p.Gly151Val						p.G151V	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	475	+			151					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.452G>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869963	0.72065	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.50277	0.75;0.75	5.29	5.29	0.74685	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85064	0.0936	10	0.87932	D	0	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	151	P15086	CBPB1_HUMAN	V	151	ENSP00000417222:G151V;ENSP00000282957:G151V	ENSP00000282957:G151V	G	+	2	0	CPB1	150041430	1.000000	0.71417	0.982000	0.44146	0.672000	0.39443	5.126000	0.64721	2.473000	0.83533	0.655000	0.94253	GGA		PASS	0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		12	105	12	105	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148614388	148614388	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:148614388G>T	ENST00000296046.3	+	11	1200	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	383					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G383V(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGAGATAAAGGCAAATTTGGT	0.433																																						uc003ewm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1147-1149)GGC>GTC		carboxypeptidase A3 precursor							90.0	91.0	91.0					3																	148614388		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148614388G>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1148G>T	3.37:g.148614388G>T	ENSP00000296046:p.Gly383Val						p.G383V	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1200	+			383					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.1148G>T	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765202	0.90020	.	.	ENSG00000163751	ENST00000296046	T	0.13307	2.6	5.52	5.52	0.82312	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63449	-0.6635	10	0.87932	D	0	.	18.2117	0.89872	0.0:0.0:1.0:0.0	.	383	P15088	CBPA3_HUMAN	V	383	ENSP00000296046:G383V	ENSP00000296046:G383V	G	+	2	0	CPA3	150097078	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	4.453000	0.60061	2.605000	0.88082	0.591000	0.81541	GGC		PASS	0.433	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		26	103	26	103	---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155560403	155560403	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:155560403G>A	ENST00000392845.3	-	2	1161	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.L261F			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	261					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.L261F(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGAAAAAAAGGAAATCTGAA	0.234																																						uc003fan.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(781-783)CTT>TTT		acetyl-coenzyme A transporter							40.0	37.0	38.0					3																	155560403		2201	4295	6496	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155560403G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.781C>T	3.37:g.155560403G>A	ENSP00000376587:p.Leu261Phe					SLC33A1_uc003fao.1_Missense_Mutation_p.L261F	p.L261F	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	1162	-			261			Helical; (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.781C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680621	0.68042	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.74421	-0.84;-0.84	5.69	5.69	0.88448	Major facilitator superfamily domain, general substrate transporter (1);	0.060834	0.64402	D	0.000002	T	0.75280	0.3828	L	0.46567	1.45	0.80722	D	1	P	0.40282	0.711	B	0.43867	0.434	T	0.75536	-0.3283	10	0.51188	T	0.08	-17.5466	19.8688	0.96842	0.0:0.0:1.0:0.0	.	261	O00400	ACATN_HUMAN	F	261	ENSP00000376587:L261F;ENSP00000352456:L261F	ENSP00000352456:L261F	L	-	1	0	SLC33A1	157043097	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.299000	0.59073	2.695000	0.91970	0.558000	0.71614	CTT		PASS	0.234	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		4	45	4	45	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:178916726G>T	ENST00000263967.3	+	2	270	c.113G>T	c.(112-114)cGt>cTt	p.R38L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> H (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R38H(10)|p.R38L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		12	Substitution - Missense(12)	p.R38H(4)|p.R38S(1)|p.R38G(1)|p.R38C(1)	endometrium(7)|large_intestine(3)|lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(112-114)CGT>CTT		phosphoinositide-3-kinase, catalytic, alpha							76.0	74.0	75.0					3																	178916726		1838	4082	5920	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916726G>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.113G>T	3.37:g.178916726G>T	ENSP00000263967:p.Arg38Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R38L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	270	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		38		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.113G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707612	0.89018	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.71934	-0.61;-0.61	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84270	0.5435	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84082	0.0385	9	.	.	.	-9.214	19.2635	0.93977	0.0:0.0:1.0:0.0	.	38	P42336	PK3CA_HUMAN	L	38	ENSP00000263967:R38L;ENSP00000417479:R38L	.	R	+	2	0	PIK3CA	180399420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	CGT		PASS	0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			79	100	79	100	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179525562	179525562	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr3:179525562C>T	ENST00000467460.1	-	14	1906	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PEX5L_ENST00000392649.3_Missense_Mutation_p.E418K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E467K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E491K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E483K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E502K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E524K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E418K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.E334K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	526					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.E526K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCACGGCTTCCTCGCTGCGG	0.542																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1576-1578)GAA>AAA		peroxisomal biogenesis factor 5-like							135.0	140.0	138.0					3																	179525562		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525562C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1576G>A	3.37:g.179525562C>T	ENSP00000419975:p.Glu526Lys					PEX5L_uc011bqd.1_Missense_Mutation_p.E483K|PEX5L_uc011bqe.1_Missense_Mutation_p.E334K|PEX5L_uc011bqf.1_Missense_Mutation_p.E418K|PEX5L_uc003fkj.1_Missense_Mutation_p.E491K|PEX5L_uc010hxd.1_Missense_Mutation_p.E524K|PEX5L_uc011bqg.1_Missense_Mutation_p.E502K|PEX5L_uc011bqh.1_Missense_Mutation_p.E467K	p.E526K	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1706	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		526			TPR 4.		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1576G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717017	0.96830	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	M	0.81802	2.56	0.80722	D	1	P;P;D;D;D;D	0.76494	0.94;0.94;0.999;0.996;0.99;0.997	P;P;D;P;P;D	0.76071	0.742;0.742;0.987;0.874;0.825;0.923	D	0.92929	0.6362	10	0.87932	D	0	-27.0475	20.6525	0.99598	0.0:1.0:0.0:0.0	.	467;502;418;524;491;526	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	526;524;491;524;418;334;483;414;467;418;502	ENSP00000419975:E526K;ENSP00000263962:E524K;ENSP00000418440:E491K;ENSP00000376420:E418K;ENSP00000418665:E334K;ENSP00000420555:E483K;ENSP00000418054:E467K;ENSP00000417270:E418K;ENSP00000419348:E502K	ENSP00000263962:E524K	E	-	1	0	PEX5L	181008256	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	GAA		PASS	0.542	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		23	395	23	395	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46312249	46312249	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:46312249G>A	ENST00000510861.1	-	6	673	c.500C>T	c.(499-501)cCa>cTa	p.P167L	GABRA2_ENST00000381620.4_Missense_Mutation_p.P167L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P167L|GABRA2_ENST00000514090.1_Missense_Mutation_p.P167L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P112L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P167L|GABRA2_ENST00000515082.1_Missense_Mutation_p.P167L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	167					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P167L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAGTGCATTGGGCATTCAGC	0.368																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(499-501)CCA>CTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						132.0	130.0	131.0					4																	46312249		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46312249G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.500C>T	4.37:g.46312249G>A	ENSP00000421828:p.Pro167Leu					GABRA2_uc010igc.2_Missense_Mutation_p.P167L|GABRA2_uc011bzc.1_Missense_Mutation_p.P112L|GABRA2_uc003gxe.2_Missense_Mutation_p.P167L	p.P167L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			5	1173	-			167			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.500C>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755950	0.89843	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.9	5.9	0.94986	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	M	0.83603	2.65	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.985	D;P;D	0.72338	0.977;0.897;0.92	D	0.90717	0.4632	10	0.59425	D	0.04	.	19.2671	0.93993	0.0:0.0:1.0:0.0	.	112;167;167	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	167;167;167;167;112;167;167	ENSP00000421828:P167L;ENSP00000421300:P167L;ENSP00000371033:P167L;ENSP00000348897:P167L;ENSP00000444409:P112L;ENSP00000427603:P167L;ENSP00000423840:P167L	ENSP00000348897:P167L	P	-	2	0	GABRA2	46007006	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.845000	0.99498	2.788000	0.95919	0.650000	0.86243	CCA		PASS	0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			17	68	17	68	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114158196	114158197	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:114158196_114158197GG>CT	ENST00000357077.4	+	6	590_591	c.537_538GG>CT	c.(535-540)gtGGcc>gtCTcc	p.A180S	ANK2_ENST00000506722.1_Missense_Mutation_p.A159S|ANK2_ENST00000394537.3_Missense_Mutation_p.A180S|ANK2_ENST00000264366.6_Missense_Mutation_p.A180S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	180					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)	p.A180S(2)|p.V179V(1)		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)		ACCAGGCGGTGGCCATCCTCTT	0.495																																						uc003ibe.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(535-537)GTG>GTC|c.(538-540)GCC>TCC		ankyrin 2 isoform 1																																				SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114158196G>C|g.chr4:114158197G>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	Exception_encountered	4.37:g.114158196_114158197delinsCT	ENSP00000349588:p.Ala180Ser					ANK2_uc003ibd.3_Silent_p.V158V|ANK2_uc003ibf.3_Silent_p.V179V|ANK2_uc003ibc.2_Silent_p.V155V|ANK2_uc011cgb.1_Silent_p.V194V|ANK2_uc003ibd.3_Missense_Mutation_p.A159S|ANK2_uc003ibf.3_Missense_Mutation_p.A180S|ANK2_uc003ibc.2_Missense_Mutation_p.A156S|ANK2_uc011cgb.1_Missense_Mutation_p.A195S	p.V179V|p.A180S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	637|638	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	179|180			ANK 5.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent|Missense_Mutation	SNP	ENST00000357077.4	37	c.537G>C|c.538G>T	CCDS3702.1																																																																																				PASS	0.495	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26|27	159|158	26	158	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115858645	115858645	+	Silent	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:115858645T>C	ENST00000264363.2	-	5	1914	c.1236A>G	c.(1234-1236)ccA>ccG	p.P412P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	412	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.P412P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCATGTTGATTGGTATTCCAT	0.438																																						uc003ibu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1234-1236)CCA>CCG		heparan sulfate N-deacetylase/N-sulfotransferase							105.0	88.0	94.0					4																	115858645		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115858645T>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1236A>G	4.37:g.115858645T>C						NDST4_uc010imw.2_RNA	p.P412P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	5	1915	-		Ovarian(17;0.156)	412			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1236A>G	CCDS3706.1																																																																																				PASS	0.438	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		8	55	8	55	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156634427	156634427	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:156634427C>A	ENST00000296518.7	+	7	1473	c.1264C>A	c.(1264-1266)Caa>Aaa	p.Q422K	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q422K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q164K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q422K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q422K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q422K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q422K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	422					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.Q422K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGCCCGAGCTCAAGATGGCCT	0.512																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1264-1266)CAA>AAA		guanylate cyclase 1, soluble, alpha 3 isoform A							80.0	83.0	82.0					4																	156634427		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634427C>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1264C>A	4.37:g.156634427C>A	ENSP00000296518:p.Gln422Lys					GUCY1A3_uc010iqc.2_Missense_Mutation_p.Q422K|GUCY1A3_uc003iow.2_Missense_Mutation_p.Q422K|GUCY1A3_uc010iqd.2_Missense_Mutation_p.Q421K|GUCY1A3_uc003iox.2_Missense_Mutation_p.Q422K|GUCY1A3_uc003ioz.2_Missense_Mutation_p.Q187K|GUCY1A3_uc003ioy.2_Missense_Mutation_p.Q422K|GUCY1A3_uc010iqe.2_Missense_Mutation_p.Q187K|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.Q422K	p.Q422K	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	1800	+	all_hematologic(180;0.24)	Renal(120;0.0854)	422					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1264C>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931003	0.92389	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.64402	D	0.000011	D	0.95182	0.8438	M	0.87682	2.9	0.80722	D	1	D;D	0.55605	0.972;0.972	D;D	0.64687	0.928;0.928	D	0.94058	0.7324	10	0.45353	T	0.12	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	422;422	B3KU69;Q02108	.;GCYA3_HUMAN	K	422;422;422;422;164;422;422	ENSP00000424361:Q422K;ENSP00000421493:Q422K;ENSP00000426968:Q422K;ENSP00000412201:Q422K;ENSP00000377418:Q164K;ENSP00000296518:Q422K;ENSP00000426040:Q422K	ENSP00000296518:Q422K	Q	+	1	0	GUCY1A3	156853877	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.461000	0.80834	2.861000	0.98227	0.655000	0.94253	CAA		PASS	0.512	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			7	43	7	43	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162402262	162402262	+	Silent	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:162402262A>T	ENST00000306100.5	-	13	1954	c.1518T>A	c.(1516-1518)gcT>gcA	p.A506A	FSTL5_ENST00000379164.4_Silent_p.A505A|FSTL5_ENST00000427802.2_Silent_p.A496A|FSTL5_ENST00000536695.1_Silent_p.A505A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	506						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A506A(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGACATTAACAGCTGATGCCC	0.383																																						uc003iqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1516-1518)GCT>GCA		follistatin-like 5 isoform a							185.0	177.0	180.0					4																	162402262		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162402262A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1518T>A	4.37:g.162402262A>T						FSTL5_uc003iqi.2_Silent_p.A505A|FSTL5_uc010iqv.2_Silent_p.A496A	p.A506A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	13	1954	-	all_hematologic(180;0.24)		506					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1518T>A	CCDS3802.1																																																																																				PASS	0.383	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		31	188	31	188	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166935601	166935601	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:166935601G>T	ENST00000061240.2	+	8	1578	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	TLL1_ENST00000513213.1_Missense_Mutation_p.D311Y|TLL1_ENST00000507499.1_Missense_Mutation_p.D311Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	311	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D311Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATGTTTCTGGATACCATTCT	0.418																																						uc003irh.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(931-933)GAT>TAT		tolloid-like 1 precursor							246.0	243.0	244.0					4																	166935601		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166935601G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.931G>T	4.37:g.166935601G>T	ENSP00000061240:p.Asp311Tyr					TLL1_uc011cjn.1_Missense_Mutation_p.D311Y|TLL1_uc011cjo.1_Missense_Mutation_p.D135Y	p.D311Y	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	8	1578	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	311			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.931G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091027	0.76756	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.64618	-0.11;-0.11;-0.11	4.96	4.12	0.48240	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.81118	0.4756	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.84502	0.0617	10	0.87932	D	0	.	13.2506	0.60050	0.0779:0.0:0.9221:0.0	.	311;311	E9PD25;O43897	.;TLL1_HUMAN	Y	311	ENSP00000061240:D311Y;ENSP00000426082:D311Y;ENSP00000422937:D311Y	ENSP00000061240:D311Y	D	+	1	0	TLL1	167155051	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	9.753000	0.98904	1.074000	0.40909	0.557000	0.71058	GAT		PASS	0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			41	268	41	268	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189018262	189018263	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr4:189018262_189018263CT>AA	ENST00000512729.1	-	6	921_922	c.547_548AG>TT	c.(547-549)AGt>TTt	p.S183F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S208F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	183	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.S183F(1)|p.S183I(1)|p.S183C(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GTGGCATAAACTCAGGTCTGTG	0.495																																						uc003izl.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(2)	2						c.(547-549)AGT>ATT|c.(547-549)AGT>TGT		tripartite motif family-like 2																																				SO:0001583	missense	205860						ligase activity	g.chr4:189018262C>A|g.chr4:189018263T>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.547_548delinsAA	4.37:g.189018262_189018263delinsAA	ENSP00000422581:p.Ser183Phe					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.S258I|TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.S258C	p.S183I|p.S183C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	584|583	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	183			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.548G>T|c.547A>T	CCDS3850.1																																																																																				PASS	0.495	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		27|26	150	26	150	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13776797	13776797	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:13776797G>T	ENST00000265104.4	-	55	9228	c.9124C>A	c.(9124-9126)Cga>Aga	p.R3042R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3042	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3042R(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTCATCTCGAGCAAATAGG	0.383									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(9124-9126)CGA>AGA		dynein, axonemal, heavy chain 5							89.0	87.0	88.0					5																	13776797		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776797G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9124C>A	5.37:g.13776797G>T							p.R3042R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			55	9166	-	Lung NSC(4;0.00476)		3042			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9124C>A	CCDS3882.1																																																																																				PASS	0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	77	13	77	---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36104168	36104168	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:36104168C>T	ENST00000296603.4	-	18	2530	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	690						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D690N(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATATGTCACTGCGAGAC	0.383																																						uc003jkb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2068-2070)GAC>AAC		LMBR1 domain containing 2							102.0	91.0	95.0					5																	36104168		2203	4300	6503	SO:0001583	missense	92255					integral to membrane		g.chr5:36104168C>T		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.2068G>A	5.37:g.36104168C>T	ENSP00000296603:p.Asp690Asn					uc003jka.1_5'Flank	p.D690N	NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2483	-	all_lung(31;0.000146)		690			Cytoplasmic (Potential).		B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	c.2068G>A	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	0.455	-0.891684	0.02491	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.42	-0.4	0.12411	.	0.500542	0.19991	N	0.101580	T	0.09598	0.0236	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35649	-0.9780	9	0.09843	T	0.71	-0.0235	6.6432	0.22921	0.0:0.1158:0.1327:0.7515	.	690	Q68DH5	LMBD2_HUMAN	N	690;584	.	ENSP00000296603:D690N	D	-	1	0	LMBRD2	36139925	0.015000	0.18098	0.016000	0.15963	0.002000	0.02628	-0.219000	0.09228	0.002000	0.14630	0.491000	0.48974	GAC		PASS	0.383	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		4	26	4	26	---	---	---	---
C6	729	broad.mit.edu	37	5	41201677	41201677	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:41201677G>T	ENST00000263413.3	-	3	547	c.283C>A	c.(283-285)Cct>Act	p.P95T	C6_ENST00000337836.5_Missense_Mutation_p.P95T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	95	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.P95T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAATACAAGGGTCACAGTCT	0.458																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(283-285)CCT>ACT		complement component 6 precursor							88.0	83.0	85.0					5																	41201677		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41201677G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.283C>A	5.37:g.41201677G>T	ENSP00000263413:p.Pro95Thr					C6_uc003jml.1_Missense_Mutation_p.P95T	p.P95T	NM_000065	NP_000056	P13671	CO6_HUMAN			3	493	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	95			TSP type-1 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.283C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245939	0.80024	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.26067	1.76;1.76;1.76	5.92	5.92	0.95590	.	0.197709	0.56097	D	0.000037	T	0.50051	0.1593	L	0.59967	1.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.38520	-0.9657	10	0.59425	D	0.04	-12.9225	19.0921	0.93231	0.0:0.0:1.0:0.0	.	95	P13671	CO6_HUMAN	T	95	ENSP00000338861:P95T;ENSP00000263413:P95T;ENSP00000396565:P95T	ENSP00000263413:P95T	P	-	1	0	C6	41237434	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.866000	0.69590	2.809000	0.96659	0.655000	0.94253	CCT		PASS	0.458	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			10	45	10	45	---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59940622	59940622	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:59940622T>A	ENST00000265036.5	-	5	726	c.659A>T	c.(658-660)aAt>aTt	p.N220I	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.N193I|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.N220I	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	220	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.N220I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ACTATATACATTATGGATGAT	0.308																																						uc003jsh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)AAT>ATT		DEP domain containing 1B isoform 1							98.0	96.0	97.0					5																	59940622		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59940622T>A	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.659A>T	5.37:g.59940622T>A	ENSP00000265036:p.Asn220Ile					DEPDC1B_uc011cqm.1_Missense_Mutation_p.N220I|DEPDC1B_uc011cqn.1_Missense_Mutation_p.N193I	p.N220I	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			5	732	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	220			Rho-GAP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.659A>T	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743206	0.89663	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.19806	2.12;2.12;2.12	5.94	5.94	0.96194	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.59653	-0.7414	9	.	.	.	-25.5324	16.3908	0.83537	0.0:0.0:0.0:1.0	.	220;220	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	I	220;220;193	ENSP00000265036:N220I;ENSP00000389101:N220I;ENSP00000438320:N193I	.	N	-	2	0	DEPDC1B	59976379	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	6.883000	0.75595	2.269000	0.75478	0.455000	0.32223	AAT		PASS	0.308	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		11	68	11	68	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257089	63257089	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:63257089G>T	ENST00000323865.3	-	1	691	c.458C>A	c.(457-459)gCc>gAc	p.A153D	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	153				RAA -> PR (in Ref. 1; AAA36440/CAA31908). {ECO:0000305}.	adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A153fs*37(1)|p.A153D(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAGCGCAGCGGCGCGCCGGGG	0.647																																						uc011cqt.1																			2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(2)	ovary(2)|pancreas(2)	4						c.(457-459)GCC>GAC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						76.0	86.0	83.0					5																	63257089		2203	4299	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257089G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.458C>A	5.37:g.63257089G>T	ENSP00000316244:p.Ala153Asp						p.A153D	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	458	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	153	RAA -> PR (in Ref. 1; AAA36440/CAA31908).		Helical; Name=4; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.458C>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952983	0.53293	.	.	ENSG00000178394	ENST00000323865	T	0.45668	0.89	5.6	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86817	0.2002	10	0.72032	D	0.01	.	14.9159	0.70798	0.0:0.0:0.8557:0.1443	.	153	P08908	5HT1A_HUMAN	D	153	ENSP00000316244:A153D	ENSP00000316244:A153D	A	-	2	0	HTR1A	63292845	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	9.869000	0.99810	1.346000	0.45694	-0.181000	0.13052	GCC		PASS	0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		19	88	19	88	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89999529	89999529	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:89999529A>T	ENST00000405460.2	+	35	8299	c.8203A>T	c.(8203-8205)Aat>Tat	p.N2735Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2735	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N2735Y(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGTCGAGGAAATGTTACTGT	0.318																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(8203-8205)AAT>TAT		G protein-coupled receptor 98 precursor							68.0	65.0	66.0					5																	89999529		1803	4069	5872	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89999529A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8203A>T	5.37:g.89999529A>T	ENSP00000384582:p.Asn2735Tyr					GPR98_uc003kjt.2_Missense_Mutation_p.N441Y|GPR98_uc003kjv.2_Missense_Mutation_p.N335Y	p.N2735Y	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	35	8299	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2735			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.8203A>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.367195|4.367195	0.82463|0.82463	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.27256	.|1.68	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.996;0.999	.|D;D	.|0.72338	.|0.927;0.977	T|T	0.45116|0.45116	-0.9283|-0.9283	5|10	.|0.87932	.|D	.|0	.|.	15.1466|15.1466	0.72657|0.72657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2735;2735	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	D|Y	300|2735	.|ENSP00000384582:N2735Y	.|ENSP00000296619:N2735Y	E|N	+|+	3|1	2|0	GPR98|GPR98	90035285|90035285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.356000|8.356000	0.90085|0.90085	2.173000|2.173000	0.68751|0.68751	0.528000|0.528000	0.53228|0.53228	GAA|AAT		PASS	0.318	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	32	4	32	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139838244	139838244	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:139838244A>T	ENST00000360839.2	+	8	1431	c.1277A>T	c.(1276-1278)gAt>gTt	p.D426V	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D426V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.D415V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D426V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.D426V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	426						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D426V(3)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTTTTGGATAGTGGTGCT	0.408																																						uc003lfs.1																			3	Substitution - Missense(3)		lung(3)	ovary(6)	6						c.(1276-1278)GAT>GTT		ANKHD1-EIF4EBP3 protein							89.0	84.0	86.0					5																	139838244		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139838244A>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1277A>T	5.37:g.139838244A>T	ENSP00000354085:p.Asp426Val					ANKHD1_uc003lfq.1_Missense_Mutation_p.D426V|ANKHD1_uc003lfr.2_Missense_Mutation_p.D426V|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.D415V|ANKHD1_uc003lfo.2_Missense_Mutation_p.D426V|ANKHD1_uc010jfk.2_Missense_Mutation_p.D426V	p.D426V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1401	+			426					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1277A>T	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746296	0.89663	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.052691	0.64402	D	0.000001	T	0.81531	0.4842	M	0.79123	2.44	0.80722	D	1	P;D;D;D;D	0.69078	0.936;0.997;0.997;0.967;0.995	P;D;D;P;D	0.66979	0.811;0.939;0.939;0.84;0.948	D	0.83919	0.0300	10	0.72032	D	0.01	.	16.1115	0.81266	1.0:0.0:0.0:0.0	.	426;426;426;415;426	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	426;440;426;426;426;426;415;426	ENSP00000354085:D426V;ENSP00000297183:D426V;ENSP00000394489:D426V;ENSP00000378212:D426V;ENSP00000378211:D415V;ENSP00000432016:D426V	ENSP00000432016:D426V	D	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139818428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.207000	0.71202	0.460000	0.39030	GAT		PASS	0.408	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	51	7	51	---	---	---	---
HARS2	23438	broad.mit.edu	37	5	140073533	140073533	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:140073533T>G	ENST00000230771.3	+	3	420	c.197T>G	c.(196-198)cTt>cGt	p.L66R	HARS_ENST00000448240.1_5'Flank|HARS_ENST00000431330.2_5'Flank|HARS_ENST00000438307.2_5'Flank|HARS2_ENST00000502303.1_3'UTR|HARS2_ENST00000432671.2_Intron|HARS_ENST00000415192.2_5'Flank|HARS_ENST00000307633.3_5'Flank|HARS2_ENST00000437649.2_Missense_Mutation_p.L66R|HARS_ENST00000504156.1_5'Flank|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000435019.2_Intron|HARS_ENST00000457527.2_5'Flank|HARS2_ENST00000508522.1_Missense_Mutation_p.L41R	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	66					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.L66R(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGGGATCTTAGTCCTCAG	0.398																																						uc003lgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CTT>CGT		histidyl-tRNA synthetase 2 precursor							190.0	197.0	195.0					5																	140073533		2203	4300	6503	SO:0001583	missense	23438				histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	g.chr5:140073533T>G	U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.197T>G	5.37:g.140073533T>G	ENSP00000230771:p.Leu66Arg					HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.1_Missense_Mutation_p.L41R|HARS2_uc011czs.1_5'UTR|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank	p.L66R	NM_012208	NP_036340	P49590	SYHM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	413	+			66					B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	c.197T>G	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	t	13.65	2.301030	0.40694	.	.	ENSG00000112855	ENST00000230771;ENST00000509299;ENST00000503873;ENST00000437649;ENST00000508522	T;T;T;T;T	0.65732	-0.17;1.47;1.47;-0.17;-0.17	6.04	4.82	0.62117	Aminoacyl-tRNA synthetase, class II (1);	0.538685	0.19398	N	0.115252	T	0.58694	0.2140	L	0.47716	1.5	0.80722	D	1	B;B	0.32101	0.254;0.356	B;B	0.40101	0.319;0.24	T	0.61647	-0.7020	10	0.59425	D	0.04	-6.5578	8.6316	0.33922	0.1678:0.0:0.1111:0.721	.	41;66	B4DDY8;P49590	.;SYHM_HUMAN	R	66;72;72;66;41	ENSP00000230771:L66R;ENSP00000425695:L72R;ENSP00000424516:L72R;ENSP00000411708:L66R;ENSP00000423616:L41R	ENSP00000230771:L66R	L	+	2	0	HARS2	140053717	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.749000	0.47492	2.317000	0.78254	0.460000	0.39030	CTT		PASS	0.398	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208		30	233	30	233	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188235	140188235	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:140188235C>T	ENST00000530339.1	+	1	1463	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A488V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A488V	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A488V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGAACGCGCTGGTGTCC	0.652																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1462-1464)GCG>GTG		protocadherin alpha 4 isoform 1 precursor							61.0	64.0	63.0					5																	140188235		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188235C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1463C>T	5.37:g.140188235C>T	ENSP00000435300:p.Ala488Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A488V|PCDHA4_uc011daa.1_Missense_Mutation_p.A488V	p.A488V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1564	+			488			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1463C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	17.94	3.512192	0.64522	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53857	0.6;0.6;0.6	4.18	4.18	0.49190	Cadherin (4);Cadherin-like (1);	0.000000	0.35466	U	0.003185	T	0.77458	0.4133	M	0.89601	3.045	0.28255	N	0.925098	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	T	0.75288	-0.3370	10	0.87932	D	0	.	16.5498	0.84470	0.0:1.0:0.0:0.0	.	488;488;488	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	488	ENSP00000423470:A488V;ENSP00000349344:A488V;ENSP00000435300:A488V	ENSP00000349344:A488V	A	+	2	0	PCDHA4	140168419	0.041000	0.20044	0.999000	0.59377	0.384000	0.30261	0.256000	0.18351	2.072000	0.62099	0.580000	0.79431	GCG		PASS	0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		12	56	12	56	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150518926	150518926	+	Silent	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:150518926G>C	ENST00000354546.5	-	4	419	c.192C>G	c.(190-192)tcC>tcG	p.S64S	ANXA6_ENST00000521512.1_Silent_p.S64S|ANXA6_ENST00000377751.5_Silent_p.S64S|ANXA6_ENST00000356496.5_Silent_p.S64S|ANXA6_ENST00000523714.1_Silent_p.S32S	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	64					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.S64S(1)|p.S116S(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGTAGAGGGACTTGTAGC	0.547																																						uc003ltl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(190-192)TCC>TCG		annexin VI isoform 1							114.0	123.0	120.0					5																	150518926		2040	4204	6244	SO:0001819	synonymous_variant	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150518926G>C	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.192C>G	5.37:g.150518926G>C						ANXA6_uc011dcp.1_Silent_p.S32S|ANXA6_uc003ltm.1_Silent_p.S64S|ANXA6_uc003ltn.1_Silent_p.S64S|ANXA6_uc003lto.1_Intron	p.S64S	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	344	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	64			Annexin 1.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Silent	SNP	ENST00000354546.5	37	c.192C>G	CCDS47315.1																																																																																				PASS	0.547	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		8	42	8	42	---	---	---	---
FNDC9	408263	broad.mit.edu	37	5	156766092	156766092	+	IGR	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:156766092C>A	ENST00000312349.4	-	0	2125				CYFIP2_ENST00000435847.2_Silent_p.R504R|CYFIP2_ENST00000377576.3_Silent_p.R805R|CYFIP2_ENST00000318218.6_Silent_p.R830R|CYFIP2_ENST00000442283.2_Silent_p.R90R|CYFIP2_ENST00000522463.1_Silent_p.R609R|CYFIP2_ENST00000541131.1_Silent_p.R730R|CYFIP2_ENST00000347377.6_Silent_p.R805R|CYFIP2_ENST00000521420.1_Silent_p.R779R	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9							integral component of membrane (GO:0016021)		p.R830R(2)|p.R805R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGATTAACCGGCTCACGCA	0.522																																						uc003lwq.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2413-2415)CGG>AGG		cytoplasmic FMR1 interacting protein 2							31.0	41.0	38.0					5																	156766092		2138	4264	6402	SO:0001628	intergenic_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156766092C>A	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248		5.37:g.156766092C>A						CYFIP2_uc011ddn.1_Silent_p.R779R|CYFIP2_uc011ddo.1_Silent_p.R609R|CYFIP2_uc003lwr.2_Silent_p.R805R|CYFIP2_uc003lws.2_Silent_p.R805R|CYFIP2_uc003lwt.2_Silent_p.R708R|CYFIP2_uc011ddp.1_Silent_p.R539R	p.R805R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		24	2551	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	830					A8K0Y6	Silent	SNP	ENST00000312349.4	37	c.2413C>A	CCDS4337.1																																																																																				PASS	0.522	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		4	9	4	9	---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159839520	159839520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:159839520G>A	ENST00000297151.4	-	6	964	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	193					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.R193*(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCAATGTTCGTTTTGCCTTT	0.274																																						uc003lyg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(577-579)CGA>TGA		step II splicing factor SLU7							70.0	67.0	68.0					5																	159839520		2202	4298	6500	SO:0001587	stop_gained	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159839520G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.577C>T	5.37:g.159839520G>A	ENSP00000297151:p.Arg193*						p.R193*	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	732	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	193					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Nonsense_Mutation	SNP	ENST00000297151.4	37	c.577C>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	40	8.399843	0.98794	.	.	ENSG00000164609	ENST00000297151	.	.	.	5.68	2.96	0.34315	.	0.051383	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.4394	10.7715	0.46325	0.2031:0.0:0.7969:0.0	.	.	.	.	X	193	.	ENSP00000297151:R193X	R	-	1	2	SLU7	159772098	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.706000	0.47135	0.347000	0.23924	0.650000	0.86243	CGA		PASS	0.274	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		11	65	11	65	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178566994	178566994	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:178566994G>A	ENST00000251582.7	-	11	1773	c.1672C>T	c.(1672-1674)Ctc>Ttc	p.L558F		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	558	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L558F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCCGTTTGAGGATGTCAGGT	0.602																																						uc003mjw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1672-1674)CTC>TTC		ADAM metallopeptidase with thrombospondin type 1							162.0	169.0	167.0					5																	178566994		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178566994G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1672C>T	5.37:g.178566994G>A	ENSP00000251582:p.Leu558Phe						p.L558F	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	11	1672	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	558			Disintegrin.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1672C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855178	0.32791	.	.	ENSG00000087116	ENST00000251582	T	0.60424	0.19	4.92	3.92	0.45320	.	0.000000	0.42964	D	0.000628	T	0.58609	0.2134	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	P	0.56434	0.798	T	0.59841	-0.7378	10	0.52906	T	0.07	.	10.7014	0.45928	0.1314:0.0:0.8686:0.0	.	558	O95450	ATS2_HUMAN	F	558	ENSP00000251582:L558F	ENSP00000251582:L558F	L	-	1	0	ADAMTS2	178499600	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.683000	0.25349	2.281000	0.76405	0.561000	0.74099	CTC		PASS	0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		32	216	32	216	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180030235	180030235	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr5:180030235G>T	ENST00000261937.6	-	30	4127	c.4049C>A	c.(4048-4050)tCc>tAc	p.S1350Y		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1350					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|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)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S1350Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCAGACGGGGAGCAGTGGTC	0.662																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.3																			1	Substitution - Missense(1)		lung(1)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(4048-4050)TCC>TAC		fms-related tyrosine kinase 4 isoform 1	Sorafenib(DB00398)|Sunitinib(DB01268)						34.0	32.0	33.0					5																	180030235		2202	4299	6501	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180030235G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.4049C>A	5.37:g.180030235G>T	ENSP00000261937:p.Ser1350Tyr						p.S1350Y	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	30	4128	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Error:Variant_position_missing_in_P35916_after_alignment					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.4049C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813456	0.32053	.	.	ENSG00000037280	ENST00000261937	T	0.78003	-1.14	3.56	0.661	0.17874	.	.	.	.	.	T	0.60340	0.2261	N	0.14661	0.345	0.18873	N	0.999982	P	0.39903	0.694	B	0.40329	0.326	T	0.50423	-0.8830	9	0.39692	T	0.17	.	6.9137	0.24347	0.1706:0.1492:0.6802:0.0	.	1350	P35916	VGFR3_HUMAN	Y	1350	ENSP00000261937:S1350Y	ENSP00000261937:S1350Y	S	-	2	0	FLT4	179962841	0.986000	0.35501	0.001000	0.08648	0.008000	0.06430	1.996000	0.40776	0.118000	0.18165	0.471000	0.43371	TCC		PASS	0.662	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			10	54	10	54	---	---	---	---
SLC17A3	10786	broad.mit.edu	37	6	25868572	25868572	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:25868572T>C	ENST00000360657.3	-	2	329	c.44A>G	c.(43-45)aAg>aGg	p.K15R	SLC17A3_ENST00000361703.6_Missense_Mutation_p.K15R|SLC17A3_ENST00000397060.4_Missense_Mutation_p.K15R			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	15					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.K15R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGTGCGTTCTTGCTCTCCCT	0.433																																						uc003nfi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(43-45)AAG>AGG		solute carrier family 17 (sodium phosphate),							282.0	237.0	252.0					6																	25868572		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25868572T>C	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.44A>G	6.37:g.25868572T>C	ENSP00000353873:p.Lys15Arg					SLC17A3_uc003nfk.3_Missense_Mutation_p.K15R|SLC17A3_uc011djz.1_Missense_Mutation_p.K15R|SLC17A3_uc011dka.1_Missense_Mutation_p.K15R	p.K15R	NM_006632	NP_006623	O00476	NPT4_HUMAN			2	154	-			15					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.44A>G	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	T	3.069	-0.191451	0.06299	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64438	-0.1;-0.0;-0.0	3.36	2.13	0.27403	.	1.284190	0.05786	N	0.609540	T	0.32466	0.0830	L	0.43152	1.355	0.09310	N	1	B;B;B	0.33919	0.421;0.432;0.421	B;B;B	0.29862	0.108;0.102;0.081	T	0.36407	-0.9749	10	0.59425	D	0.04	.	6.524	0.22291	0.0:0.0:0.2492:0.7508	.	15;15;15	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	R	15	ENSP00000380250:K15R;ENSP00000353873:K15R;ENSP00000355307:K15R	ENSP00000353873:K15R	K	-	2	0	SLC17A3	25976551	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.019000	0.13444	0.621000	0.30232	0.528000	0.53228	AAG		PASS	0.433	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			15	55	15	55	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31749681	31749681	+	Missense_Mutation	SNP	G	G	A	rs55786236		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:31749681G>A	ENST00000375663.3	-	19	2730	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	VARS_ENST00000444930.2_3'UTR|Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	764					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R764W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTTCTCCCGGGCCTCCGCC	0.627																																						uc003nxe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2290-2292)CGG>TGG		valyl-tRNA synthetase	L-Valine(DB00161)						173.0	195.0	187.0					6																	31749681		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749681G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2290C>T	6.37:g.31749681G>A	ENSP00000364815:p.Arg764Trp					VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	p.R764W	NM_006295	NP_006286	P26640	SYVC_HUMAN			19	2713	-			764					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2290C>T	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.778567|3.778567	0.70107|0.70107	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|T	.|0.19938	.|2.11	5.64|5.64	4.7|4.7	0.59300|0.59300	.|Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	.|0.251403	.|0.44688	.|D	.|0.000423	T|T	0.36220|0.36220	0.0959|0.0959	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.60575	.|0.988	.|P	.|0.58077	.|0.832	T|T	0.36040|0.36040	-0.9764|-0.9764	5|10	.|0.87932	.|D	.|0	-14.4542|-14.4542	10.4494|10.4494	0.44513|0.44513	0.0:0.0:0.6815:0.3185|0.0:0.0:0.6815:0.3185	rs55786236|rs55786236	.|764	.|P26640	.|SYVC_HUMAN	L|W	81|764	.|ENSP00000364815:R764W	.|ENSP00000364815:R764W	P|R	-|-	2|1	0|2	VARS|VARS	31857660|31857660	0.987000|0.987000	0.35691|0.35691	0.945000|0.945000	0.38365|0.38365	0.717000|0.717000	0.41224|0.41224	1.986000|1.986000	0.40677|0.40677	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	CCG|CGG		PASS	0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		42	172	42	172	---	---	---	---
DAXX	1616	broad.mit.edu	37	6	33288240	33288240	+	Missense_Mutation	SNP	C	C	T	rs573854582		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:33288240C>T	ENST00000374542.5	-	4	1372	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	DAXX_ENST00000266000.6_Missense_Mutation_p.E390K|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.E315K|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	390	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E390K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTTTTTCTCTCGCCCTCCTCA	0.557			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2				Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		lung(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(1168-1170)GAG>AAG		death-domain associated protein isoform a							109.0	102.0	104.0					6																	33288240		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288240C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1168G>A	6.37:g.33288240C>T	ENSP00000363668:p.Glu390Lys					ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Missense_Mutation_p.E315K|DAXX_uc011dre.1_Missense_Mutation_p.E402K|DAXX_uc003oed.2_Missense_Mutation_p.E390K|DAXX_uc010juw.2_Missense_Mutation_p.E315K	p.E390K	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			4	1372	-			390			Potential.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1168G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847284	0.32606	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.56	4.56	0.56223	.	0.107772	0.64402	D	0.000009	T	0.46852	0.1414	M	0.76328	2.33	0.58432	D	0.999999	P;P;P	0.44260	0.789;0.83;0.83	B;B;B	0.38712	0.2;0.28;0.28	T	0.57700	-0.7766	9	0.49607	T	0.09	-6.7032	14.88	0.70525	0.0:1.0:0.0:0.0	.	402;390;390	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	K	390;390;315	.	ENSP00000266000:E390K	E	-	1	0	DAXX	33396218	1.000000	0.71417	0.947000	0.38551	0.027000	0.11550	5.537000	0.67186	2.378000	0.81104	0.643000	0.83706	GAG		PASS	0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			17	89	17	89	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36298396	36298396	+	Silent	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:36298396G>C	ENST00000437635.2	-	2	249	c.72C>G	c.(70-72)gcC>gcG	p.A24A		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	24								p.A24A(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTTCCCGGGGGCCTGCGGCC	0.642																																						uc003oly.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(70-72)GCC>GCG		hypothetical protein LOC389384							47.0	53.0	51.0					6																	36298396		2195	4290	6485	SO:0001819	synonymous_variant	389384							g.chr6:36298396G>C		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.72C>G	6.37:g.36298396G>C							p.A24A	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			2	250	-			24					B2RTY8	Silent	SNP	ENST00000437635.2	37	c.72C>G	CCDS34439.1																																																																																				PASS	0.642	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		13	88	13	88	---	---	---	---
PAQR8	85315	broad.mit.edu	37	6	52268702	52268702	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:52268702C>T	ENST00000442253.2	+	2	865	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	PAQR8_ENST00000360726.3_Missense_Mutation_p.R231C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	231					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.R231C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGTGGCACACCGTGTGGCGCT	0.547																																						uc003pao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)CGT>TGT		progestin and adipoQ receptor family member							84.0	81.0	82.0					6																	52268702		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268702C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.691C>T	6.37:g.52268702C>T	ENSP00000406197:p.Arg231Cys						p.R231C	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	865	+	Lung NSC(77;0.0875)		231			Helical; Name=4; (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.691C>T	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027396	0.75390	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32272	1.46;1.46	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64236	-0.6455	9	.	.	.	-8.6978	14.6484	0.68777	0.1465:0.8535:0.0:0.0	.	231	Q8TEZ7	MPRB_HUMAN	C	231	ENSP00000406197:R231C;ENSP00000353953:R231C	.	R	+	1	0	PAQR8	52376661	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	4.675000	0.61619	1.300000	0.44818	0.655000	0.94253	CGT		PASS	0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		12	55	12	55	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106554352	106554352	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:106554352G>A	ENST00000369096.4	+	6	2114	c.1880G>A	c.(1879-1881)gGa>gAa	p.G627E	PRDM1_ENST00000369089.3_Missense_Mutation_p.G493E|PRDM1_ENST00000369091.2_Missense_Mutation_p.G591E	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	627					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G591E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTACACACGGGAGAAAAGCCA	0.498			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(1879-1881)GGA>GAA		PR domain containing 1, with ZNF domain isoform							108.0	90.0	96.0					6																	106554352		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106554352G>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1880G>A	6.37:g.106554352G>A	ENSP00000358092:p.Gly627Glu					PRDM1_uc003pre.2_Missense_Mutation_p.G493E	p.G627E	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	6	2114	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	627					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1880G>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	33	5.262666	0.95399	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.25749	1.78;1.78;1.78	5.55	5.55	0.83447	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.094859	0.64402	D	0.000001	T	0.38348	0.1037	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.995;1.0	T	0.18935	-1.0321	10	0.87932	D	0	-14.9888	19.0971	0.93257	0.0:0.0:1.0:0.0	.	493;627	Q86WM7;O75626	.;PRDM1_HUMAN	E	591;627;590;493	ENSP00000358087:G591E;ENSP00000358092:G627E;ENSP00000358085:G493E	ENSP00000358085:G493E	G	+	2	0	PRDM1	106661045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.892000	0.87324	2.622000	0.88805	0.655000	0.94253	GGA		PASS	0.498	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			13	61	13	61	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110746252	110746252	+	Silent	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:110746252A>G	ENST00000368919.3	-	8	1624	c.1558T>C	c.(1558-1560)Tta>Cta	p.L520L	SLC22A16_ENST00000330550.4_Silent_p.L486L	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	520					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.L520L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TTTAGTGTTAACACTCCACTC	0.428																																						uc003puf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1558-1560)TTA>CTA		solute carrier family 22, member 16							80.0	78.0	79.0					6																	110746252		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746252A>G		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1558T>C	6.37:g.110746252A>G						SLC22A16_uc003pue.2_Silent_p.L501L	p.L520L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1625	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	520			Helical; (Potential).		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1558T>C	CCDS5084.1																																																																																				PASS	0.428	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		16	107	16	107	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116263644	116263644	+	Missense_Mutation	SNP	C	C	A	rs141525046	byFrequency	TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr6:116263644C>A	ENST00000606080.1	-	8	1897	c.1451G>T	c.(1450-1452)cGt>cTt	p.R484L	FRK_ENST00000538210.1_Missense_Mutation_p.R342L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AAGTTTCCAACGCAGTGTCTC	0.388																																						uc003pwi.1																			1	Substitution - Missense(1)	p.R484C(1)	lung(1)	ovary(3)|lung(3)	6						c.(1450-1452)CGT>CTT		fyn-related kinase							137.0	132.0	134.0					6																	116263644		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263644C>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1451G>T	6.37:g.116263644C>A	ENSP00000476145:p.Arg484Leu						p.R484L	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1898	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	484			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1451G>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	c	7.765	0.706308	0.15239	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.26810	1.71;1.71	5.59	1.83	0.25207	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.644681	0.14692	N	0.304140	T	0.04227	0.0117	N	0.11255	0.115	0.24352	N	0.994911	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	10	0.72032	D	0.01	.	6.2639	0.20915	0.1184:0.1318:0.0:0.7498	.	484	P42685	FRK_HUMAN	L	484;342	ENSP00000357615:R484L;ENSP00000443075:R342L	ENSP00000357615:R484L	R	-	2	0	FRK	116370337	0.905000	0.30787	0.114000	0.21550	0.181000	0.23173	1.393000	0.34497	0.074000	0.16767	-0.374000	0.07098	CGT		PASS	0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		10	104	10	104	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25218815	25218815	+	Missense_Mutation	SNP	C	C	T	rs531648664		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:25218815C>T	ENST00000409280.1	-	2	421	c.113G>A	c.(112-114)cGc>cAc	p.R38H	C7orf31_ENST00000283905.3_Missense_Mutation_p.R38H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	38								p.R38H(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGCAGTTGGGCGAGTAACCGT	0.428																																						uc003sxn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)CGC>CAC		hypothetical protein LOC136895							126.0	119.0	122.0					7																	25218815		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25218815C>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.113G>A	7.37:g.25218815C>T	ENSP00000386604:p.Arg38His						p.R38H	NM_138811	NP_620166	Q8N865	CG031_HUMAN			2	674	-			38					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.113G>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	N	16.27	3.077161	0.55753	.	.	ENSG00000153790	ENST00000409280;ENST00000283905;ENST00000443822;ENST00000415598;ENST00000444434	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.33	5.33	0.75918	.	0.106895	0.42548	D	0.000700	T	0.41604	0.1166	M	0.69823	2.125	0.39794	D	0.972474	D	0.89917	1.0	D	0.87578	0.998	T	0.35748	-0.9776	10	0.72032	D	0.01	-25.1408	14.5861	0.68326	0.0:1.0:0.0:0.0	.	38	Q8N865	CG031_HUMAN	H	38	ENSP00000386604:R38H;ENSP00000283905:R38H;ENSP00000388472:R38H;ENSP00000391212:R38H;ENSP00000403281:R38H	ENSP00000283905:R38H	R	-	2	0	C7orf31	25185340	1.000000	0.71417	0.999000	0.59377	0.241000	0.25554	2.375000	0.44283	2.505000	0.84491	0.650000	0.86243	CGC		PASS	0.428	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		11	72	11	72	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30795128	30795128	+	Silent	SNP	G	G	A	rs370569103		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:30795128G>A	ENST00000013222.5	+	3	469	c.453G>A	c.(451-453)ccG>ccA	p.P151P	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.P150P	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	151					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.P151P(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGCTGGCCCCGGCTGTGTTGC	0.657																																						uc003tbs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)CCG>CCA		indolethylamine N-methyltransferase		G	,	0,4406		0,0,2203	68.0	59.0	62.0		450,453	-7.5	0.0	7		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	INMT	NM_001199219.1,NM_006774.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	150/263,151/264	30795128	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795128G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.453G>A	7.37:g.30795128G>A						FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.P150P	p.P151P	NM_006774	NP_006765	O95050	INMT_HUMAN			3	469	+			151					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.453G>A	CCDS5430.1																																																																																				PASS	0.657	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		15	42	15	42	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31855568	31855568	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:31855568C>T	ENST00000396191.1	-	15	2238	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	PDE1C_ENST00000396193.1_Missense_Mutation_p.E655K|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.E595K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E595K|PDE1C_ENST00000396184.3_Missense_Mutation_p.E595K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	595					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.E595K(4)|p.E655K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GATGACTTCTCGGCTTTGGAG	0.443																																						uc003tcm.1																			5	Substitution - Missense(5)		lung(3)|large_intestine(2)	skin(3)|central_nervous_system(1)	4						c.(1783-1785)GAG>AAG		phosphodiesterase 1C							231.0	221.0	224.0					7																	31855568		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855568C>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1783G>A	7.37:g.31855568C>T	ENSP00000379494:p.Glu595Lys					PDE1C_uc003tcn.1_Missense_Mutation_p.E595K|PDE1C_uc003tco.1_Missense_Mutation_p.E655K|PDE1C_uc003tcr.2_Missense_Mutation_p.E595K|PDE1C_uc003tcs.2_Missense_Mutation_p.E595K	p.E595K	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	2252	-			595					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1783G>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924938	0.34002	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.73897	-0.77;-0.79;-0.79;-0.73;-0.73	5.2	5.2	0.72013	.	0.633297	0.14258	N	0.331015	T	0.60586	0.2280	N	0.12182	0.205	0.42369	D	0.992446	B;B;B	0.10296	0.001;0.0;0.003	B;B;B	0.08055	0.003;0.001;0.001	T	0.56269	-0.8007	10	0.51188	T	0.08	.	15.5839	0.76468	0.0:1.0:0.0:0.0	.	595;655;595	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	K	655;595;595;595;595	ENSP00000379496:E655K;ENSP00000379494:E595K;ENSP00000318105:E595K;ENSP00000379487:E595K;ENSP00000379485:E595K	ENSP00000318105:E595K	E	-	1	0	PDE1C	31822093	0.993000	0.37304	0.962000	0.40283	0.101000	0.19017	4.094000	0.57721	2.692000	0.91855	0.655000	0.94253	GAG		PASS	0.443	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			28	253	28	253	---	---	---	---
VOPP1	81552	broad.mit.edu	37	7	55559980	55559980	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:55559980C>A	ENST00000285279.5	-	4	523	c.323G>T	c.(322-324)gGc>gTc	p.G108V	VOPP1_ENST00000428097.1_Missense_Mutation_p.G41V|VOPP1_ENST00000428648.1_Missense_Mutation_p.G41V|VOPP1_ENST00000427700.1_Missense_Mutation_p.G106V|VOPP1_ENST00000454227.1_Missense_Mutation_p.G45V|VOPP1_ENST00000471168.1_5'Flank|VOPP1_ENST00000418904.1_Missense_Mutation_p.G91V|VOPP1_ENST00000453256.1_Missense_Mutation_p.G41V|VOPP1_ENST00000433959.1_Missense_Mutation_p.G99V|VOPP1_ENST00000545390.1_Missense_Mutation_p.G105V	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	108	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)	p.R70R(2)|p.G108V(1)|p.G108D(1)		endometrium(1)|lung(4)	5						CTGACCTGGGCCGGGATTTGG	0.602																																						uc003tqs.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|endometrium(2)		0						c.(322-324)GGC>GTC		EGFR-coamplified and overexpressed protein							27.0	34.0	32.0					7																	55559980		1969	4140	6109	SO:0001583	missense	81552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	g.chr7:55559980C>A		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.323G>T	7.37:g.55559980C>A	ENSP00000285279:p.Gly108Val					VOPP1_uc003tqq.2_Missense_Mutation_p.G99V|VOPP1_uc010kzh.2_Missense_Mutation_p.G105V|VOPP1_uc010kzi.2_Missense_Mutation_p.G91V|VOPP1_uc011kcr.1_Missense_Mutation_p.G40V	p.G108V	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN			4	506	-			108			Pro-rich.|Cytoplasmic (Potential).		B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	c.323G>T	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	C	8.955	0.969139	0.18659	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700;ENST00000455023;ENST00000414113;ENST00000417399	.	.	.	4.11	3.21	0.36854	.	.	.	.	.	T	0.23727	0.0574	N	0.08118	0	0.30401	N	0.780032	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.15780	-1.0425	8	0.56958	D	0.05	-0.0655	9.7097	0.40238	0.0:0.2638:0.7362:0.0	.	91;105;108;99	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	V	108;41;99;105;41;91;45;41;106;41;41;41	.	ENSP00000285279:G108V	G	-	2	0	VOPP1	55527474	0.286000	0.24305	0.539000	0.28077	0.466000	0.32739	3.160000	0.50739	0.654000	0.30846	-0.310000	0.09108	GGC		PASS	0.602	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796		3	25	3	25	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71175877	71175877	+	Silent	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:71175877C>A	ENST00000333538.5	+	10	2266	c.1632C>A	c.(1630-1632)gtC>gtA	p.V544V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	544	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V544V(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCGACAAGGTCAAGAGCAGCC	0.612																																						uc003tvy.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1630-1632)GTC>GTA		UDP-GalNAc:polypeptide							51.0	47.0	48.0					7																	71175877		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175877C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1632C>A	7.37:g.71175877C>A						WBSCR17_uc003tvz.2_Silent_p.V243V	p.V544V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			10	1632	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	544			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.1632C>A	CCDS5540.1																																																																																				PASS	0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		8	52	8	52	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95442571	95442571	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:95442571T>C	ENST00000324972.6	+	4	480	c.287T>C	c.(286-288)aTg>aCg	p.M96T	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.M79T|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.M79T|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.M79T|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.M79T|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.M96T|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.M79T	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	96	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.M96T(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCAACCCCTATGTCTCCCTCC	0.448																																						uc003uoc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(286-288)ATG>ACG		dynein, cytoplasmic 1, intermediate chain 1							112.0	111.0	111.0					7																	95442571		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95442571T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.287T>C	7.37:g.95442571T>C	ENSP00000320130:p.Met96Thr					DYNC1I1_uc003uod.3_Missense_Mutation_p.M79T|DYNC1I1_uc003uob.2_Missense_Mutation_p.M79T|DYNC1I1_uc003uoe.3_Missense_Mutation_p.M96T|DYNC1I1_uc010lfl.2_Missense_Mutation_p.M85T	p.M96T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	564	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		96			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.287T>C	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553342	0.27739	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T	0.74315	-0.51;-0.56;-0.83;-0.53;-0.61;-0.51	4.79	4.79	0.61399	.	0.093688	0.64402	D	0.000002	T	0.67192	0.2867	L	0.50333	1.59	0.46203	D	0.998921	B;B;B;B;B	0.13145	0.001;0.007;0.001;0.004;0.001	B;B;B;B;B	0.09377	0.002;0.004;0.004;0.003;0.004	T	0.62248	-0.6894	10	0.14252	T	0.57	-1.8147	15.391	0.74744	0.0:0.0:0.0:1.0	.	79;96;79;96;79	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	T	79;79;96;79;96;79;79;79;79	ENSP00000392337:M79T;ENSP00000320130:M96T;ENSP00000438377:M79T;ENSP00000398118:M96T;ENSP00000352348:M79T;ENSP00000412444:M79T	ENSP00000320130:M96T	M	+	2	0	DYNC1I1	95280507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.806000	0.86020	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.448	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		12	100	12	100	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98488019	98488019	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:98488019C>T	ENST00000359863.4	+	4	421	c.212C>T	c.(211-213)aCa>aTa	p.T71I	TRRAP_ENST00000446306.3_Missense_Mutation_p.T71I|TRRAP_ENST00000355540.3_Missense_Mutation_p.T71I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	71					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.T71I(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGATTCCTTACATTTCTCCAA	0.393																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(211-213)ACA>ATA		transformation/transcription domain-associated							105.0	99.0	101.0					7																	98488019		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98488019C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.212C>T	7.37:g.98488019C>T	ENSP00000352925:p.Thr71Ile					TRRAP_uc011kis.1_Missense_Mutation_p.T71I	p.T71I	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	421	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		71					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.212C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761175	0.89932	.	.	ENSG00000196367	ENST00000417523;ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65732	3.54;-0.17	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.70857	-0.4758	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	71;71	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	I	71	ENSP00000352925:T71I;ENSP00000347733:T71I	ENSP00000347733:T71I	T	+	2	0	TRRAP	98325955	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.738000	0.84966	2.937000	0.99478	0.650000	0.86243	ACA		PASS	0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	49	9	49	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508642	106508642	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:106508642G>T	ENST00000359195.3	+	2	946	c.636G>T	c.(634-636)tgG>tgT	p.W212C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.W212C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.W212C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	212					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W212C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGTACCTGTGGAAGAAGATTG	0.637																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(634-636)TGG>TGT		phosphoinositide-3-kinase, catalytic, gamma							114.0	117.0	116.0					7																	106508642		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508642G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.636G>T	7.37:g.106508642G>T	ENSP00000352121:p.Trp212Cys					PIK3CG_uc003vdu.2_Missense_Mutation_p.W212C|PIK3CG_uc003vdw.2_Missense_Mutation_p.W212C	p.W212C	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	721	+			212					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.636G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	3.375	-0.127663	0.06753	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69175	-0.38;-0.38;-0.38	5.5	-5.37	0.02681	Phosphoinositide 3-kinase, ras-binding (2);	3.261670	0.00875	N	0.002064	T	0.34048	0.0884	N	0.02011	-0.69	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.15694	-1.0428	10	0.38643	T	0.18	15.1669	1.7476	0.02965	0.1881:0.3577:0.1788:0.2753	.	212	P48736	PK3CG_HUMAN	C	212	ENSP00000392258:W212C;ENSP00000419260:W212C;ENSP00000352121:W212C	ENSP00000352121:W212C	W	+	3	0	PIK3CG	106295878	0.000000	0.05858	0.001000	0.08648	0.966000	0.64601	-0.226000	0.09139	-1.422000	0.02004	-0.340000	0.08031	TGG		PASS	0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			10	78	10	78	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142637536	142637536	+	IGR	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:142637536G>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Silent_p.S102S	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S102S(1)|p.S77S(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGACCAGTCGTCCAAGACGG	0.542																																						uc003wca.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(304-306)TCG>TCA		hypothetical protein LOC135927							208.0	185.0	192.0					7																	142637536		2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142637536G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637536G>A							p.S102S	NM_178829	NP_849151	Q96L11	CG034_HUMAN			2	347	+	Melanoma(164;0.059)		77					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.306G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	0.077	-1.190470	0.01607	.	.	ENSG00000165131	ENST00000458732	.	.	.	4.38	-7.85	0.01192	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	4	.	.	.	-0.6158	9.7718	0.40593	0.1337:0.2869:0.5793:0.0	.	.	.	.	I	108	.	.	V	+	1	0	C7orf34	142347658	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.432000	0.01022	-1.539000	0.01732	-0.376000	0.06991	GTC		PASS	0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		25	127	25	127	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657764	143657764	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:143657764G>C	ENST00000392899.1	+	1	738	c.701G>C	c.(700-702)aGa>aCa	p.R234T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	234					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGAGAAGGAAGAAAGAAAGCT	0.498																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(700-702)AGA>ACA		olfactory receptor, family 2, subfamily F,							185.0	160.0	168.0					7																	143657764		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657764G>C	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.701G>C	7.37:g.143657764G>C	ENSP00000376633:p.Arg234Thr						p.R234T	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	745	+	Melanoma(164;0.0903)		234			Cytoplasmic (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.701G>C	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168101	0.57476	.	.	ENSG00000213215	ENST00000392899	T	0.00327	8.09	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.01124	0.0037	M	0.93375	3.41	0.09310	N	1	D	0.53619	0.961	P	0.60286	0.872	T	0.22103	-1.0226	10	0.72032	D	0.01	-19.5842	17.0114	0.86407	0.0:0.0:1.0:0.0	.	234	Q13607	OR2F1_HUMAN	T	234	ENSP00000376633:R234T	ENSP00000376633:R234T	R	+	2	0	OR2F1	143288697	0.000000	0.05858	0.009000	0.14445	0.596000	0.36781	0.830000	0.27462	2.871000	0.98454	0.655000	0.94253	AGA		PASS	0.498	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			14	103	14	103	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150324980	150324980	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr7:150324980A>G	ENST00000328902.5	-	3	922	c.706T>C	c.(706-708)Tac>Cac	p.Y236H	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	236	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.Y236H(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTATATTGGTAAGCCTTGTTG	0.517																																						uc003whn.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(706-708)TAC>CAC		GTPase, IMAP family member 6							166.0	155.0	159.0					7																	150324980		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324980A>G	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.706T>C	7.37:g.150324980A>G	ENSP00000330374:p.Tyr236His					GIMAP6_uc003whm.2_Missense_Mutation_p.Y156H	p.Y236H	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1130	-			236					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.706T>C	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802139	0.50315	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06218	3.33	4.05	2.88	0.33553	AIG1 (1);	0.776003	0.12275	N	0.483416	T	0.18045	0.0433	M	0.62088	1.915	0.27977	N	0.936164	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.959	T	0.07539	-1.0767	10	0.41790	T	0.15	.	6.118	0.20137	0.8812:0.0:0.1188:0.0	.	236;156	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	H	236;297	ENSP00000330374:Y236H	ENSP00000330374:Y236H	Y	-	1	0	GIMAP6	149955913	0.061000	0.20836	0.000000	0.03702	0.001000	0.01503	3.424000	0.52764	0.611000	0.30052	0.533000	0.62120	TAC		PASS	0.517	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		31	164	31	164	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8747574	8747574	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:8747574G>C	ENST00000276282.6	-	1	3581	c.2995C>G	c.(2995-2997)Cca>Gca	p.P999A		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	999								p.P999A(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACTTACCTGGAAAAGCATGT	0.438																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2995-2997)CCA>GCA		malignant fibrous histiocytoma amplified							71.0	64.0	66.0					8																	8747574		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8747574G>C	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2995C>G	8.37:g.8747574G>C	ENSP00000276282:p.Pro999Ala						p.P999A	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3558	-		Hepatocellular(245;0.217)	999					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2995C>G	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996806	0.74818	.	.	ENSG00000147324	ENST00000276282	T	0.37752	1.18	5.78	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.56769	1.78	0.58432	D	0.999996	D	0.67145	0.996	P	0.58266	0.836	T	0.50668	-0.8801	10	0.56958	D	0.05	.	15.4275	0.75065	0.0:0.1389:0.8611:0.0	.	999	Q9Y4C4	MFHA1_HUMAN	A	999	ENSP00000276282:P999A	ENSP00000276282:P999A	P	-	1	0	MFHAS1	8784984	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.530000	0.81962	2.749000	0.94314	0.655000	0.94253	CCA		PASS	0.438	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		3	95	3	95	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30557630	30557630	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:30557630G>A	ENST00000221130.5	-	6	753	c.663C>T	c.(661-663)agC>agT	p.S221S	GSR_ENST00000541648.1_Silent_p.S221S|GSR_ENST00000537535.1_Silent_p.S221S|GSR_ENST00000414019.1_Silent_p.S178S|GSR_ENST00000546342.1_Silent_p.S221S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	221					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.S221S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	AAAATCCATCGCTGGTTATTC	0.428																																						uc003xih.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(661-663)AGC>AGT		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						129.0	119.0	122.0					8																	30557630		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30557630G>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.663C>T	8.37:g.30557630G>A							p.S221S	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	6	754	-			221					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.663C>T	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584675	0.13749	.	.	ENSG00000104687	ENST00000520888	.	.	.	5.96	-4.96	0.03038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.1136	13.5486	0.61719	0.4589:0.0:0.5411:0.0	.	.	.	.	X	177	.	.	R	-	1	2	GSR	30677172	0.402000	0.25311	0.975000	0.42487	0.596000	0.36781	-0.447000	0.06828	-0.654000	0.05394	-1.106000	0.02097	CGA		PASS	0.428	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			25	101	25	101	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35631953	35631953	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:35631953G>T	ENST00000404895.2	+	16	2943	c.2615G>T	c.(2614-2616)gGc>gTc	p.G872V	UNC5D_ENST00000449677.1_Missense_Mutation_p.G448V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G877V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G867V|UNC5D_ENST00000287272.2_Missense_Mutation_p.G803V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G805V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	872	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G867V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AATGCCAAAGGCAAGGACTGG	0.463																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2614-2616)GGC>GTC		unc-5 homolog D precursor							119.0	111.0	113.0					8																	35631953		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35631953G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2615G>T	8.37:g.35631953G>T	ENSP00000385143:p.Gly872Val					UNC5D_uc003xjs.1_Missense_Mutation_p.G867V|UNC5D_uc003xju.1_Missense_Mutation_p.G448V	p.G872V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2943	+			872			Death.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2615G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	30	5.051651	0.93793	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.95	5.95	0.96441	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	M	0.79011	2.435	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	0.93772	0.7076	10	0.87932	D	0	-25.5957	20.4024	0.99000	0.0:0.0:1.0:0.0	.	448;867;872	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	872;805;803;877;867;448	ENSP00000385143:G872V;ENSP00000392739:G805V;ENSP00000287272:G803V;ENSP00000412652:G877V;ENSP00000394303:G867V;ENSP00000397211:G448V	ENSP00000287272:G803V	G	+	2	0	UNC5D	35751495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.827000	0.97445	0.650000	0.86243	GGC		PASS	0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			28	62	28	62	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56711626	56711626	+	Missense_Mutation	SNP	A	A	T	rs140316366		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:56711626A>T	ENST00000260129.5	+	8	2173	c.1696A>T	c.(1696-1698)Aat>Tat	p.N566Y		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	566				Missing (in Ref. 1; AAK27730). {ECO:0000305}.	7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.N566Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ACTGGAGACTAATAATCCAGA	0.418																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1696-1698)AAT>TAT		trimethylguanosine synthase homolog							136.0	122.0	126.0					8																	56711626		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56711626A>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1696A>T	8.37:g.56711626A>T	ENSP00000260129:p.Asn566Tyr					TGS1_uc010lyh.2_Missense_Mutation_p.N470Y	p.N566Y	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2083	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	566	Missing (in Ref. 1; AAK27730).				A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1696A>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.255325	0.39896	.	.	ENSG00000137574	ENST00000260129	T	0.10005	2.92	5.68	1.88	0.25563	.	0.823975	0.11735	N	0.534600	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.26770	0.073;0.073	T	0.39057	-0.9632	10	0.66056	D	0.02	-0.1766	5.4037	0.16310	0.5376:0.1429:0.3194:0.0	.	566;566	B2RBJ7;Q96RS0	.;TGS1_HUMAN	Y	566	ENSP00000260129:N566Y	ENSP00000260129:N566Y	N	+	1	0	TGS1	56874180	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.243000	0.18106	0.077000	0.16863	0.528000	0.53228	AAT		PASS	0.418	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		13	93	13	93	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69000007	69000007	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:69000007G>A	ENST00000288368.4	+	19	2353	c.2076G>A	c.(2074-2076)cgG>cgA	p.R692R	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	692	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R692R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCAGATCCGGGGATTTGGCC	0.453																																						uc003xxv.1																			2	Substitution - coding silent(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2074-2076)CGG>CGA		DEP domain containing 2 isoform a							200.0	188.0	192.0					8																	69000007		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69000007G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2076G>A	8.37:g.69000007G>A						PREX2_uc003xxu.1_Silent_p.R692R|PREX2_uc011lez.1_Silent_p.R627R	p.R692R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			19	2103	+			692			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2076G>A	CCDS6201.1																																																																																				PASS	0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		20	180	20	180	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765739	77765739	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:77765739C>G	ENST00000521891.2	+	10	7030	c.6582C>G	c.(6580-6582)aaC>aaG	p.N2194K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2149K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2149K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2168K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N2178K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCATACAACTTCAGTAACC	0.368										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6445-6447)AAC>AAG		zinc finger homeodomain 4							141.0	136.0	138.0					8																	77765739		1854	4095	5949	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765739C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6582C>G	8.37:g.77765739C>G	ENSP00000430497:p.Asn2194Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.N2194K|ZFHX4_uc003yaw.1_Missense_Mutation_p.N2149K	p.N2149K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6834	+			2149					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6447C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746931	0.30955	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	4.05	2.23	0.28157	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.47852	U	0.000201	D	0.93122	0.7810	L	0.54323	1.7	0.49687	D	0.999818	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	D	0.91296	0.5063	10	0.54805	T	0.06	.	6.6497	0.22955	0.0:0.5892:0.0:0.4108	.	2149;2149;2194	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2194;2178;2149;2149;2168	ENSP00000430497:N2194K;ENSP00000399605:N2149K;ENSP00000050961:N2149K;ENSP00000430848:N2168K	ENSP00000050961:N2149K	N	+	3	2	ZFHX4	77928294	0.992000	0.36948	1.000000	0.80357	0.619000	0.37552	0.374000	0.20501	1.065000	0.40693	0.555000	0.69702	AAC		PASS	0.368	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		24	194	24	194	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113331091	113331091	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:113331091C>T	ENST00000297405.5	-	47	7579	c.7335G>A	c.(7333-7335)atG>atA	p.M2445I	CSMD3_ENST00000352409.3_Missense_Mutation_p.M2375I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M2341I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M2405I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2445	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M2445I(1)|p.M2405I(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						GTGCTCCATCCATCTGCAGTC	0.333										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.(7333-7335)ATG>ATA		CUB and Sushi multiple domains 3 isoform 1							108.0	99.0	102.0					8																	113331091		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113331091C>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.7335G>A	8.37:g.113331091C>T	ENSP00000297405:p.Met2445Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.M1647I|CSMD3_uc003ynt.2_Missense_Mutation_p.M2405I|CSMD3_uc011lhx.1_Missense_Mutation_p.M2341I|CSMD3_uc003ynw.1_Missense_Mutation_p.M156I	p.M2445I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			47	7494	-			2445			Extracellular (Potential).|Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7335G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613284	0.87359	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.82	4.94	0.65067	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	L	0.40543	1.245	0.45594	D	0.998536	D;D;P	0.57899	0.976;0.981;0.533	D;D;B	0.77004	0.98;0.989;0.382	T	0.40478	-0.9561	10	0.72032	D	0.01	.	16.3902	0.83532	0.1327:0.8673:0.0:0.0	.	2341;2445;2405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2405;2445;1715;2341;2375	ENSP00000345799:M2405I;ENSP00000297405:M2445I;ENSP00000341558:M1715I;ENSP00000412263:M2341I;ENSP00000343124:M2375I	ENSP00000297405:M2445I	M	-	3	0	CSMD3	113400267	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.468000	0.60162	1.463000	0.47967	0.579000	0.79373	ATG		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	79	26	79	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113585850	113585850	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:113585850C>A	ENST00000297405.5	-	24	4166	c.3922G>T	c.(3922-3924)Ggt>Tgt	p.G1308C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1308C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1204C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1268C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1308	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1308C(1)|p.G1268C(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						GTAAAAGCACCTAGTAGATGA	0.338										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.(3922-3924)GGT>TGT		CUB and Sushi multiple domains 3 isoform 1							114.0	113.0	114.0					8																	113585850		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113585850C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3922G>T	8.37:g.113585850C>A	ENSP00000297405:p.Gly1308Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G580C|CSMD3_uc003ynt.2_Missense_Mutation_p.G1268C|CSMD3_uc011lhx.1_Missense_Mutation_p.G1204C	p.G1308C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			24	4081	-			1308			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3922G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008412	0.75046	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.85	4.85	0.62838	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	H	0.97732	4.065	0.39856	D	0.973303	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83844	0.0259	10	0.87932	D	0	.	18.1525	0.89678	0.0:1.0:0.0:0.0	.	1204;1308;1268	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1268;1308;648;1204;1308	ENSP00000345799:G1268C;ENSP00000297405:G1308C;ENSP00000341558:G648C;ENSP00000412263:G1204C;ENSP00000343124:G1308C	ENSP00000297405:G1308C	G	-	1	0	CSMD3	113655026	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	5.750000	0.68712	2.496000	0.84212	0.591000	0.81541	GGT		PASS	0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	111	18	111	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120754867	120754867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:120754867G>A	ENST00000378164.2	-	25	3542	c.3244C>T	c.(3244-3246)Cga>Tga	p.R1082*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1082					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R1082*(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAAGCAGATCGGGAGCTAGCT	0.453																																						uc003you.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(3244-3246)CGA>TGA		TBP-associated factor 2							56.0	54.0	54.0					8																	120754867		2203	4300	6503	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120754867G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3244C>T	8.37:g.120754867G>A	ENSP00000367406:p.Arg1082*						p.R1082*	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	3514	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1082					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.3244C>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824664	0.71143	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	.	.	.	5.57	2.53	0.30540	.	0.093403	0.43747	D	0.000536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.362	11.3421	0.49539	0.0:0.0:0.5071:0.4929	.	.	.	.	X	1082;258	.	ENSP00000367406:R1082X	R	-	1	2	TAF2	120824048	0.128000	0.22383	0.016000	0.15963	0.552000	0.35366	0.739000	0.26173	0.630000	0.30394	0.591000	0.81541	CGA		PASS	0.453	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		4	55	4	55	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143412282	143412282	+	Silent	SNP	C	C	T	rs368218203		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:143412282C>T	ENST00000307180.3	-	6	990	c.873G>A	c.(871-873)acG>acA	p.T291T	TSNARE1_ENST00000520166.1_Silent_p.T291T|TSNARE1_ENST00000524325.1_Silent_p.T291T|TSNARE1_ENST00000519651.1_Silent_p.T72T	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	291					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.T291T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGCTCCTGCGTGTCACTCG	0.637																																						uc003ywk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(871-873)ACG>ACA		t-SNARE domain containing 1		C		0,4406		0,0,2203	162.0	124.0	137.0		873	-4.3	1.0	8		137	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TSNARE1	NM_145003.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		291/514	143412282	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	203062				vesicle-mediated transport	integral to membrane		g.chr8:143412282C>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.873G>A	8.37:g.143412282C>T						TSNARE1_uc011lju.1_Silent_p.T291T|TSNARE1_uc003ywj.2_Silent_p.T291T|TSNARE1_uc003ywl.3_Silent_p.T72T	p.T291T	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			6	991	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		291					B7ZLB0|Q14D03	Silent	SNP	ENST00000307180.3	37	c.873G>A	CCDS6384.1																																																																																				PASS	0.637	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		9	70	9	70	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144941397	144941397	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:144941397C>G	ENST00000525985.1	-	2	6096	c.6025G>C	c.(6025-6027)Gtg>Ctg	p.V2009L				P58107	EPIPL_HUMAN	epiplakin 1	2009						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.V2009L(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)			GCCACCTGCACCTCCAGCAGC	0.637																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(6025-6027)GTG>CTG		epiplakin 1							38.0	42.0	41.0					8																	144941397		2158	4255	6413	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941397C>G	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.6025G>C	8.37:g.144941397C>G	ENSP00000436337:p.Val2009Leu						p.V2009L	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	6038	-	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)		2009			Plectin 34.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6025G>C		.	.	.	.	.	.	.	.	.	.	C	24.3	4.517254	0.85495	.	.	ENSG00000227184	ENST00000525985	T	0.75821	-0.97	4.68	4.68	0.58851	.	.	.	.	.	T	0.80949	0.4722	L	0.57536	1.79	0.30454	N	0.774924	D	0.62365	0.991	D	0.65233	0.933	T	0.74405	-0.3676	9	0.12103	T	0.63	.	15.1066	0.72326	0.0:1.0:0.0:0.0	.	2009	E9PPU0	.	L	2009	ENSP00000436337:V2009L	ENSP00000436337:V2009L	V	-	1	0	EPPK1	145013385	0.988000	0.35896	1.000000	0.80357	0.355000	0.29361	5.797000	0.69087	2.424000	0.82194	0.585000	0.79938	GTG		PASS	0.637	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	36	6	36	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993462	144993462	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr8:144993462G>A	ENST00000322810.4	-	32	11107	c.10938C>T	c.(10936-10938)acC>acT	p.T3646T	PLEC_ENST00000345136.3_Silent_p.T3509T|PLEC_ENST00000354589.3_Silent_p.T3509T|PLEC_ENST00000436759.2_Silent_p.T3536T|PLEC_ENST00000398774.2_Silent_p.T3477T|PLEC_ENST00000357649.2_Silent_p.T3513T|PLEC_ENST00000354958.2_Silent_p.T3487T|PLEC_ENST00000527096.1_Silent_p.T3532T|PLEC_ENST00000356346.3_Silent_p.T3495T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3646	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.T3646T(1)|p.T3536T(1)|p.T3509T(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGAAGCCCTTGGTGTCGTCGC	0.657																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10936-10938)ACC>ACT		plectin isoform 1							83.0	93.0	89.0					8																	144993462		2085	4203	6288	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993462G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10938C>T	8.37:g.144993462G>A						PLEC_uc003zab.1_Silent_p.T3509T|PLEC_uc003zac.1_Silent_p.T3513T|PLEC_uc003zad.2_Silent_p.T3509T|PLEC_uc003zae.1_Silent_p.T3477T|PLEC_uc003zag.1_Silent_p.T3487T|PLEC_uc003zah.2_Silent_p.T3495T|PLEC_uc003zaj.2_Silent_p.T3536T	p.T3646T	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11108	-			3646			Globular 2.|Plectin 16.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10938C>T	CCDS43772.1																																																																																				PASS	0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		17	149	17	149	---	---	---	---
IFNA14	3448	broad.mit.edu	37	9	21239830	21239830	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:21239830C>A	ENST00000380222.2	-	1	148	c.105G>T	c.(103-105)agG>agT	p.R35S		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	35					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.R35S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCAAAGTCCTCCTGTTATTCA	0.488																																						uc010mis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)AGG>AGT		interferon, alpha 14 precursor							117.0	117.0	117.0					9																	21239830		2203	4300	6503	SO:0001583	missense	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239830C>A		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.105G>T	9.37:g.21239830C>A	ENSP00000369571:p.Arg35Ser					IFNA14_uc003zoo.1_RNA	p.R35S	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	149	-			35					Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	c.105G>T	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	c	13.86	2.361920	0.41801	.	.	ENSG00000228083	ENST00000380222	T	0.03635	3.86	3.42	1.52	0.23074	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.347050	0.04472	N	0.376316	T	0.18257	0.0438	M	0.84433	2.695	0.09310	N	1	P	0.41393	0.748	P	0.57620	0.824	T	0.10268	-1.0637	10	0.72032	D	0.01	.	6.7888	0.23687	0.0:0.7629:0.0:0.2371	.	35	P01570	IFN14_HUMAN	S	35	ENSP00000369571:R35S	ENSP00000369571:R35S	R	-	3	2	IFNA14	21229830	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.690000	0.05138	0.250000	0.21479	0.404000	0.27445	AGG		PASS	0.488	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		34	117	34	117	---	---	---	---
KIAA1161	57462	broad.mit.edu	37	9	34371052	34371052	+	Silent	SNP	A	A	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:34371052A>C	ENST00000297625.7	-	2	2013	c.1788T>G	c.(1786-1788)ggT>ggG	p.G596G		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	630					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G596G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGATAGGGTCACCCGTGTCGG	0.662																																						uc003zue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1888-1890)GGT>GGG		hypothetical protein LOC57462							20.0	25.0	23.0					9																	34371052		1980	4146	6126	SO:0001819	synonymous_variant	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371052A>C	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1788T>G	9.37:g.34371052A>C							p.G630G	NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	3	2057	-			630			Extracellular (Potential).		Q5T587|Q5T588|Q9ULQ9	Silent	SNP	ENST00000297625.7	37	c.1890T>G																																																																																					PASS	0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		4	16	4	16	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40716029	40716029	+	lincRNA	SNP	G	G	A	rs367928497		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:40716029G>A	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.G61S(1)									AGAGTTCAGAGGCTGTCCCGG	0.547																																						uc010mmk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.							26.0	28.0	27.0					9																	40716029		2200	4290	6490			728495							g.chr9:40716029G>A																													9.37:g.40716029G>A								NR_026801					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	1		+									RNA	SNP	ENST00000432614.1	37	c.506G>A																																																																																					PASS	0.547	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			7	36	7	36	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74319524	74319524	+	Missense_Mutation	SNP	C	C	T	rs138339130		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:74319524C>T	ENST00000377044.4	-	18	3720	c.3181G>A	c.(3181-3183)Gtc>Atc	p.V1061I	TMEM2_ENST00000377066.5_Missense_Mutation_p.V998I|TMEM2_ENST00000396272.3_Missense_Mutation_p.V54I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1061I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGAAGTTGACGAGGTATAGA	0.428																																						uc011lsa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3181-3183)GTC>ATC		transmembrane protein 2 isoform a		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	100.0		2992,3181	2.2	1.0	9	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	998/1321,1061/1384	74319524	1,13005	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74319524C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3181G>A	9.37:g.74319524C>T	ENSP00000366243:p.Val1061Ile					TMEM2_uc011lrz.1_Missense_Mutation_p.V54I|TMEM2_uc010mos.2_Missense_Mutation_p.V998I|TMEM2_uc011lsb.1_RNA	p.V1061I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	18	3721	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1061					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3181G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070415	0.08436	2.27E-4	0.0	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.58	2.18	0.27775	.	0.138874	0.64402	N	0.000007	T	0.07098	0.0180	N	0.00256	-1.76	0.29511	N	0.854227	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38693	-0.9649	10	0.02654	T	1	.	7.6415	0.28296	0.0:0.2361:0.0:0.7639	.	1061;998	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	1061;998;54;90;162	ENSP00000366243:V1061I;ENSP00000366266:V998I;ENSP00000379569:V54I;ENSP00000366254:V90I;ENSP00000366242:V162I	ENSP00000366242:V162I	V	-	1	0	TMEM2	73509344	1.000000	0.71417	0.992000	0.48379	0.890000	0.51754	1.189000	0.32114	0.153000	0.19213	0.561000	0.74099	GTC		PASS	0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		14	89	14	89	---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99525824	99525824	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:99525824C>T	ENST00000375231.1	-	4	870	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ZNF510_ENST00000472201.1_5'UTR|ZNF510_ENST00000223428.4_Missense_Mutation_p.V74M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	74	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)	p.V74M(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCAGCATCACATCTCTGTAC	0.438																																						uc004awn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)GTG>ATG		zinc finger protein 510							105.0	94.0	97.0					9																	99525824		2203	4300	6503	SO:0001583	missense	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99525824C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.220G>A	9.37:g.99525824C>T	ENSP00000364379:p.Val74Met					ZNF510_uc004awo.1_Missense_Mutation_p.V74M	p.V74M	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN			4	409	-		Acute lymphoblastic leukemia(62;0.0527)	74			KRAB.		Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	c.220G>A	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	c	18.83	3.706917	0.68615	.	.	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.04015	3.73;3.73;3.73	3.06	3.06	0.35304	Krueppel-associated box (4);	.	.	.	.	T	0.29588	0.0738	H	0.94222	3.51	0.27228	N	0.959488	D	0.89917	1.0	D	0.91635	0.999	T	0.12116	-1.0560	9	0.87932	D	0	.	12.3751	0.55275	0.0:1.0:0.0:0.0	.	74	Q9Y2H8	ZN510_HUMAN	M	74	ENSP00000364379:V74M;ENSP00000223428:V74M;ENSP00000363772:V74M	ENSP00000223428:V74M	V	-	1	0	ZNF510	98565645	0.905000	0.30787	1.000000	0.80357	0.999000	0.98932	1.735000	0.38176	2.031000	0.59945	0.655000	0.94253	GTG		PASS	0.438	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		4	84	4	84	---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114490198	114490198	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:114490198C>T	ENST00000318737.4	-	11	1485	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	C9orf84_ENST00000394779.3_Missense_Mutation_p.D414N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D414N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D453N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	453								p.D453N(1)|p.D414N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGAAATAGTCATCAGAAAAA	0.328																																						uc004bfr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1357-1359)GAC>AAC		hypothetical protein LOC158401 isoform 1							86.0	87.0	86.0					9																	114490198		2203	4299	6502	SO:0001583	missense	158401							g.chr9:114490198C>T	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1357G>A	9.37:g.114490198C>T	ENSP00000322108:p.Asp453Asn					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.D414N|C9orf84_uc010mug.2_Missense_Mutation_p.D399N	p.D453N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			11	1492	-			453					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.1357G>A	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432300	0.25813	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.36	4.39	0.52855	.	0.939142	0.08885	N	0.879474	T	0.26702	0.0653	N	0.14661	0.345	0.20489	N	0.999892	B;B;B	0.21905	0.062;0.062;0.062	B;B;B	0.24269	0.052;0.052;0.052	T	0.19128	-1.0315	10	0.59425	D	0.04	-1.9912	4.5362	0.12032	0.0:0.7821:0.0:0.2179	.	414;453;414	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	414;414;67;453;453	ENSP00000378259:D414N;ENSP00000378257:D414N;ENSP00000363405:D453N;ENSP00000322108:D453N	ENSP00000322108:D453N	D	-	1	0	C9orf84	113530019	0.872000	0.30054	0.920000	0.36463	0.147000	0.21601	0.512000	0.22755	1.398000	0.46701	0.585000	0.79938	GAC		PASS	0.328	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		14	68	14	68	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120470927	120470927	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:120470927C>G	ENST00000355622.6	+	2	281	c.180C>G	c.(178-180)gaC>gaG	p.D60E	RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Missense_Mutation_p.D20E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	60					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.D60E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGAACCTGGACCTGAGCTTTA	0.433																																						uc004bjz.2																			1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(178-180)GAC>GAG		toll-like receptor 4 precursor							155.0	158.0	157.0					9																	120470927		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470927C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.180C>G	9.37:g.120470927C>G	ENSP00000363089:p.Asp60Glu					TLR4_uc004bka.2_Missense_Mutation_p.D20E|TLR4_uc004bkb.2_Intron	p.D60E	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	471	+			60			LRR 1.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.180C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087698	0.76642	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.59502	5.35;0.26	5.66	0.103	0.14526	.	0.000000	0.64402	D	0.000001	T	0.69904	0.3163	M	0.71036	2.16	0.41010	D	0.984993	D	0.76494	0.999	D	0.97110	1.0	T	0.69161	-0.5218	10	0.72032	D	0.01	.	9.8626	0.41123	0.0:0.5602:0.0:0.4398	.	60	O00206	TLR4_HUMAN	E	20;60	ENSP00000377997:D20E;ENSP00000363089:D60E	ENSP00000363089:D60E	D	+	3	2	TLR4	119510748	0.926000	0.31397	0.987000	0.45799	0.998000	0.95712	0.030000	0.13688	-0.160000	0.11002	0.655000	0.94253	GAC		PASS	0.433	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		38	192	38	192	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123287340	123287340	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:123287340G>A	ENST00000349780.4	-	11	1195	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S339F|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S339F|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S339F	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	339					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.S339F(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTCAATTTCAGAGTTAAGTTC	0.453																																						uc004bkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1015-1017)TCT>TTT		CDK5 regulatory subunit associated protein 2							100.0	87.0	91.0					9																	123287340		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123287340G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1016C>T	9.37:g.123287340G>A	ENSP00000343818:p.Ser339Phe					CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S339F|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S339F|CDK5RAP2_uc004bki.2_Missense_Mutation_p.S138F	p.S339F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			11	1197	-			339					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.1016C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277121	0.59758	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313;ENST00000482047	T;T;T;T;T	0.44881	3.79;3.65;3.74;3.65;0.91	5.51	3.64	0.41730	.	0.802180	0.11390	N	0.568964	T	0.56202	0.1969	L	0.56769	1.78	0.24338	N	0.994971	D;D;B;D	0.57571	0.98;0.98;0.348;0.966	P;P;B;P	0.60415	0.874;0.804;0.373;0.751	T	0.44360	-0.9333	10	0.56958	D	0.05	.	11.1318	0.48351	0.0:0.1389:0.7164:0.1447	.	140;339;339;339	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	F	339;339;339;339;341;93	ENSP00000354065:S339F;ENSP00000352258:S339F;ENSP00000343818:S339F;ENSP00000353317:S339F;ENSP00000419640:S93F	ENSP00000341695:S341F	S	-	2	0	CDK5RAP2	122327161	0.379000	0.25123	0.821000	0.32701	0.922000	0.55478	1.046000	0.30354	0.683000	0.31428	0.555000	0.69702	TCT		PASS	0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		7	63	7	63	---	---	---	---
OR5C1	392391	broad.mit.edu	37	9	125551578	125551578	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr9:125551578G>C	ENST00000373680.2	+	1	429	c.367G>C	c.(367-369)Gcc>Ccc	p.A123P		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A123P(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GGCAGCCATGGCCTATGACCG	0.577																																						uc011lzd.1																			1	Substitution - Missense(1)	p.A123D(1)	lung(1)	pancreas(1)	1						c.(367-369)GCC>CCC		olfactory receptor, family 5, subfamily C,							137.0	125.0	129.0					9																	125551578		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551578G>C	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.367G>C	9.37:g.125551578G>C	ENSP00000362784:p.Ala123Pro						p.A123P	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			1	367	+			123			Helical; Name=3; (Potential).		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.367G>C	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645035	0.87859	.	.	ENSG00000148215	ENST00000373680	T	0.56103	0.48	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36234	U	0.002710	T	0.76442	0.3988	M	0.85710	2.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79860	-0.1625	10	0.87932	D	0	.	17.9553	0.89067	0.0:0.0:1.0:0.0	.	123	Q8NGR4	OR5C1_HUMAN	P	123	ENSP00000362784:A123P	ENSP00000362784:A123P	A	+	1	0	OR5C1	124591399	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.778000	0.85637	2.777000	0.95525	0.655000	0.94253	GCC		PASS	0.577	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			15	113	15	113	---	---	---	---
PGBD3	267004	broad.mit.edu	37	10	50724810	50724810	+	Silent	SNP	G	G	A	rs375732850		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr10:50724810G>A	ENST00000374127.3	-	2	552	c.351C>T	c.(349-351)gcC>gcT	p.A117A	PGBD3_ENST00000603152.1_Silent_p.A585A|ERCC6-PGBD3_ENST00000515869.1_Silent_p.A585A|PGBD3_ENST00000508005.2_Silent_p.A117A|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A585A|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	117								p.A117A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGTTAGGTCGGCTTTTTTCC	0.423																																						uc001jht.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(349-351)GCC>GCT		hypothetical protein LOC267004		G	,	1,4405	2.1+/-5.4	0,1,2202	144.0	134.0	137.0		,351	-0.9	0.0	10		137	0,8600		0,0,4300	no	intron,coding-synonymous	ERCC6,PGBD3	NM_000124.2,NM_170753.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,117/594	50724810	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	267004							g.chr10:50724810G>A	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.351C>T	10.37:g.50724810G>A						ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.A585A|PGBD3_uc001jhu.2_Silent_p.A585A	p.A117A	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	606	-			117					B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.351C>T	CCDS7230.1																																																																																				PASS	0.423	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			15	85	15	85	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687171	68687171	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr10:68687171C>A	ENST00000361320.4	+	2	1075	c.497C>A	c.(496-498)tCt>tAt	p.S166Y	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	166					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S166Y(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CATTTACGGTCTAACTCCCTG	0.473																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(496-498)TCT>TAT		leucine rich repeat transmembrane neuronal 3							88.0	94.0	92.0					10																	68687171		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687171C>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.497C>A	10.37:g.68687171C>A	ENSP00000355187:p.Ser166Tyr					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S166Y	p.S166Y	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1047	+			166			Extracellular (Potential).|LRR 5.		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.497C>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861229	0.51482	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.59224	0.28	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000006	T	0.63710	0.2534	N	0.17379	0.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67154	-0.5742	10	0.49607	T	0.09	.	17.9918	0.89171	0.0:1.0:0.0:0.0	.	166;166	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	Y	166	ENSP00000355187:S166Y	ENSP00000355187:S166Y	S	+	2	0	LRRTM3	68357177	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.818000	0.86416	2.538000	0.85594	0.650000	0.86243	TCT		PASS	0.473	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		22	147	22	147	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69959266	69959266	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr10:69959266A>G	ENST00000358913.5	+	17	3915	c.3427A>G	c.(3427-3429)Acc>Gcc	p.T1143A	MYPN_ENST00000354393.2_Missense_Mutation_p.T868A|MYPN_ENST00000540630.1_Missense_Mutation_p.T1143A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1143	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.T1143A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CGACGCAGGGACCTATAAGTG	0.537																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(3427-3429)ACC>GCC		myopalladin							130.0	109.0	116.0					10																	69959266		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69959266A>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3427A>G	10.37:g.69959266A>G	ENSP00000351790:p.Thr1143Ala					MYPN_uc001jnn.3_Missense_Mutation_p.T868A|MYPN_uc001jno.3_Missense_Mutation_p.T1143A|MYPN_uc009xpt.2_Missense_Mutation_p.T1143A|MYPN_uc010qit.1_Missense_Mutation_p.T849A|MYPN_uc010qiu.1_RNA	p.T1143A	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			18	3612	+			1143			Ig-like 4.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3427A>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429095	0.62844	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.66815	-0.23;-0.23;-0.23	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.45422	1.42	0.58432	D	0.999992	D;D;D	0.89917	0.996;0.999;1.0	D;D;D	0.87578	0.987;0.962;0.998	T	0.74426	-0.3669	9	.	.	.	.	15.5613	0.76249	1.0:0.0:0.0:0.0	.	1143;868;1143	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	A	868;868;1143;1143	ENSP00000346369:T868A;ENSP00000351790:T1143A;ENSP00000441668:T1143A	.	T	+	1	0	MYPN	69629272	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.932000	0.63476	2.269000	0.75478	0.533000	0.62120	ACC		PASS	0.537	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	61	12	61	---	---	---	---
PRF1	5551	broad.mit.edu	37	10	72360182	72360182	+	Silent	SNP	G	G	T	rs139175805		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr10:72360182G>T	ENST00000441259.1	-	2	637	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PRF1_ENST00000373209.2_Silent_p.A159A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	159	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.Q160K(1)|p.A159A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGGTCTTCTGGGCTGCAAAGT	0.612			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													uc009xqg.2			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(475-477)GCC>GCA		perforin 1 precursor							82.0	71.0	75.0					10																	72360182		2203	4300	6503	SO:0001819	synonymous_variant	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360182G>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.477C>A	10.37:g.72360182G>T						PRF1_uc001jrf.3_Silent_p.A159A	p.A159A	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	638	-			159			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.477C>A	CCDS7305.1																																																																																				PASS	0.612	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		5	62	5	62	---	---	---	---
GPR123	84435	broad.mit.edu	37	10	134896348	134896348	+	Missense_Mutation	SNP	C	C	T	rs369691817		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr10:134896348C>T	ENST00000607359.1	+	7	1360	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	RP13-439H18.4_ENST00000444433.1_RNA			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	207					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R454C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCACCCTGGACGCAGGCCCTG	0.662																																						uc001llw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1360-1362)CGC>TGC		RecName: Full=Probable G-protein coupled receptor 123;		C		0,3120		0,0,1560	16.0	21.0	19.0			0.7	0.0	10		19	3,7141		0,3,3569	no	intergenic				0,3,5129	TT,TC,CC		0.042,0.0,0.0292			134896348	3,10261	1560	3572	5132	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134896348C>T	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.1360C>T	10.37:g.134896348C>T	ENSP00000475778:p.Arg454Cys						p.R454C			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1360	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	207			Cytoplasmic (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000607359.1	37	c.1360C>T		.	.	.	.	.	.	.	.	.	.	C	4.407	0.075171	0.08485	0.0	4.2E-4	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.64	0.715	0.18186	.	.	.	.	.	T	0.33030	0.0849	.	.	.	0.21020	N	0.99981	B	0.14012	0.009	B	0.04013	0.001	T	0.33523	-0.9865	6	0.87932	D	0	.	4.2662	0.10764	0.0:0.7848:0.0:0.2152	.	454	Q86SQ6-1	.	C	454	.	ENSP00000357566:R454C	R	+	1	0	GPR123	134746338	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.068000	0.11561	0.284000	0.22305	-0.683000	0.03753	CGC		PASS	0.662	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2			3	12	3	12	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22363155	22363155	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:22363155G>A	ENST00000263160.3	+	2	605	c.168G>A	c.(166-168)aaG>aaA	p.K56K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	56					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.K56K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCGAGAGGAAGGCGCCGCTGT	0.647																																						uc001mqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(166-168)AAG>AAA		solute carrier family 17 (sodium-dependent							57.0	55.0	56.0					11																	22363155		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363155G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.168G>A	11.37:g.22363155G>A							p.K56K	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			2	581	+			56			Cytoplasmic (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.168G>A	CCDS7856.1																																																																																				PASS	0.647	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		4	31	4	31	---	---	---	---
WT1	7490	broad.mit.edu	37	11	32450095	32450095	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:32450095G>A	ENST00000379079.2	-	2	354	c.81C>T	c.(79-81)ttC>ttT	p.F27F	WT1_ENST00000530998.1_Silent_p.F27F|WT1_ENST00000332351.3_Silent_p.F239F|WT1_ENST00000448076.3_Silent_p.F239F	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	171	Pro-rich.				adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.F171F(1)|p.?(1)|p.F27F(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGTGGTTGGGGAACTGCGCCG	0.627			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	3	Substitution - coding silent(2)|Unknown(1)		lung(2)|kidney(1)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(715-717)TTC>TTT		Wilms tumor 1 isoform D							99.0	74.0	82.0					11																	32450095		2202	4299	6501	SO:0001819	synonymous_variant	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32450095G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.81C>T	11.37:g.32450095G>A						WT1_uc001mtl.1_Silent_p.F27F|WT1_uc001mtm.1_Silent_p.F27F|WT1_uc001mto.1_Silent_p.F239F|WT1_uc001mtp.1_Silent_p.F239F|WT1_uc001mtq.1_Silent_p.F239F|WT1_uc009yjs.1_RNA	p.F239F	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		2	913	-	Breast(20;0.247)		171					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Silent	SNP	ENST00000379079.2	37	c.717C>T	CCDS55751.1																																																																																				PASS	0.627	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		8	43	8	43	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032408	55032408	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:55032408A>T	ENST00000417545.2	+	2	163	c.77A>T	c.(76-78)cAg>cTg	p.Q26L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	10						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q10L(1)|p.Q26L(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAAGTCTTCCAGAGGGAACTC	0.488																																						uc010rid.1																			2	Substitution - Missense(2)		lung(2)		0						c.(76-78)CAG>CTG		tripartite motif-containing 48							128.0	137.0	134.0					11																	55032408		2190	4253	6443	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032408A>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.77A>T	11.37:g.55032408A>T	ENSP00000402414:p.Gln26Leu						p.Q26L	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	163	+			10					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.77A>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	.	10.81	1.455692	0.26161	.	.	ENSG00000150244	ENST00000417545	D	0.84516	-1.86	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	D	0.83741	0.5320	L	0.41906	1.305	0.20074	N	0.999935	D	0.56521	0.976	P	0.59487	0.858	T	0.72683	-0.4219	9	0.87932	D	0	.	3.8772	0.09062	0.6832:0.0:0.0:0.3168	.	10	Q8IWZ4	TRI48_HUMAN	L	26	ENSP00000402414:Q26L	ENSP00000402414:Q26L	Q	+	2	0	TRIM48	54788984	0.593000	0.26840	0.025000	0.17156	0.029000	0.11900	1.289000	0.33307	-0.718000	0.04949	-1.018000	0.02450	CAG		PASS	0.488	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			91	258	91	258	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62297253	62297253	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:62297253C>T	ENST00000378024.4	-	5	4910	c.4636G>A	c.(4636-4638)Gtg>Atg	p.V1546M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1546					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V1546M(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATGTCCACCTTGGGTCCT	0.478																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4636-4638)GTG>ATG		AHNAK nucleoprotein isoform 1							134.0	144.0	140.0					11																	62297253		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297253C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4636G>A	11.37:g.62297253C>T	ENSP00000367263:p.Val1546Met					AHNAK_uc001ntk.1_Intron	p.V1546M	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4936	-		Melanoma(852;0.155)	1546					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4636G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	15.45	2.837077	0.50951	.	.	ENSG00000124942	ENST00000378024	T	0.01379	4.96	4.49	2.56	0.30785	.	0.260830	0.31577	N	0.007402	T	0.03348	0.0097	M	0.88181	2.935	0.32956	D	0.520428	B	0.31274	0.317	B	0.31245	0.126	T	0.02075	-1.1218	10	0.40728	T	0.16	.	9.1907	0.37197	0.0:0.757:0.0:0.243	.	1546	Q09666	AHNK_HUMAN	M	1546	ENSP00000367263:V1546M	ENSP00000367263:V1546M	V	-	1	0	AHNAK	62053829	0.000000	0.05858	0.996000	0.52242	0.773000	0.43773	0.406000	0.21032	0.322000	0.23283	0.298000	0.19748	GTG		PASS	0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		40	184	40	184	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64402790	64402790	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:64402790G>T	ENST00000377551.1	-	17	3749	c.3538C>A	c.(3538-3540)Cgg>Agg	p.R1180R	NRXN2_ENST00000409571.1_Silent_p.R1173R|NRXN2_ENST00000377559.3_Silent_p.R1140R|NRXN2_ENST00000301894.2_Silent_p.R134R|NRXN2_ENST00000265459.6_Silent_p.R1180R			Q9P2S2	NRX2A_HUMAN	neurexin 2	1180	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.R134R(1)|p.R1180R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTGTCCACCCGCACCAGCACA	0.642																																						uc001oap.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(400-402)CGG>AGG		neurexin 2 isoform beta precursor							42.0	39.0	40.0					11																	64402790		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64402790G>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3538C>A	11.37:g.64402790G>T						NRXN2_uc001oar.2_Silent_p.R1180R|NRXN2_uc001oas.2_Silent_p.R1140R|NRXN2_uc001oaq.2_Silent_p.R847R	p.R134R	NM_138734	NP_620063	P58401	NRX2B_HUMAN			3	911	-			134			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.400C>A	CCDS8077.1																																																																																				PASS	0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	39	7	39	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64418907	64418907	+	Missense_Mutation	SNP	C	C	A	rs374299939		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:64418907C>A	ENST00000377551.1	-	13	2949	c.2738G>T	c.(2737-2739)cGt>cTt	p.R913L	NRXN2_ENST00000409571.1_Missense_Mutation_p.R906L|NRXN2_ENST00000377559.3_Missense_Mutation_p.R873L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000265459.6_Missense_Mutation_p.R913L			Q9P2S2	NRX2A_HUMAN	neurexin 2	913					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.R913L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACGATGGCACGCAGGCCAAA	0.582											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001oar.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(2737-2739)CGT>CTT		neurexin 2 isoform alpha-1 precursor							128.0	81.0	97.0					11																	64418907		2201	4296	6497	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64418907C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2738G>T	11.37:g.64418907C>A	ENSP00000366774:p.Arg913Leu		OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1076	NRXN2_uc001oas.2_Missense_Mutation_p.R873L|NRXN2_uc001oaq.2_Missense_Mutation_p.R580L	p.R913L	NM_015080	NP_055895	P58401	NRX2B_HUMAN			15	3177	-			Error:Variant_position_missing_in_P58401_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2738G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962402	0.74016	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.12	4.12	0.48240	Concanavalin A-like lectin/glucanase, subgroup (1);	0.287492	0.19600	U	0.110415	D	0.86657	0.5985	M	0.77616	2.38	0.58432	D	0.99999	D;B;B	0.67145	0.996;0.282;0.135	D;B;B	0.65684	0.937;0.116;0.032	D	0.88257	0.2920	10	0.72032	D	0.01	.	13.9839	0.64321	0.0:1.0:0.0:0.0	.	873;913;659	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	L	913;873;913;873;906	ENSP00000366774:R913L;ENSP00000366782:R873L;ENSP00000265459:R913L;ENSP00000386416:R906L	ENSP00000265459:R913L	R	-	2	0	NRXN2	64175483	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.870000	0.69620	2.152000	0.67230	0.555000	0.69702	CGT		PASS	0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		3	36	3	36	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67079325	67079325	+	Silent	SNP	C	C	T	rs373974857		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:67079325C>T	ENST00000308127.4	+	14	2125	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	SSH3_ENST00000308298.7_Silent_p.S384S|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	649					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S649S(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACAGGCCAGCGTGCATGACA	0.642																																						uc001okj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1945-1947)AGC>AGT		slingshot homolog 3		C		1,4399		0,1,2199	68.0	56.0	60.0		1947	-1.9	1.0	11		60	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154		649/660	67079325	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67079325C>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1947C>T	11.37:g.67079325C>T						SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Silent_p.S503S	p.S649S	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		14	2125	+			649					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1947C>T	CCDS8157.1																																																																																				PASS	0.642	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		8	98	8	98	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412282	77412282	+	Silent	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:77412282T>C	ENST00000308488.6	-	6	2294	c.1992A>G	c.(1990-1992)gtA>gtG	p.V664V	RSF1_ENST00000480887.1_Silent_p.V412V|RSF1_ENST00000360355.2_Silent_p.V633V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	664					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.V664V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTCTAGGTCTACTTTTTTCA	0.428																																						uc001oyn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1990-1992)GTA>GTG		remodeling and spacing factor 1							143.0	147.0	146.0					11																	77412282		2199	4292	6491	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412282T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1992A>G	11.37:g.77412282T>C						RSF1_uc001oym.2_Silent_p.V412V	p.V664V	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2112	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		664					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1992A>G	CCDS8253.1																																																																																				PASS	0.428	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		27	154	27	154	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122929458	122929458	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:122929458G>A	ENST00000532636.1	-	7	1523	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000533540.1_Silent_p.P322P|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Silent_p.P449P|HSPA8_ENST00000534319.1_Silent_p.P232P|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.P468P|HSPA8_ENST00000534624.1_Silent_p.P468P|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	468					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.P468P(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAACACCTCGGGGTGCAGGAG	0.443																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|lung(1)	8						c.(1402-1404)CCC>CCT		heat shock 70kDa protein 8 isoform 1							97.0	87.0	91.0					11																	122929458		2202	4299	6501	SO:0001819	synonymous_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929458G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1404C>T	11.37:g.122929458G>A						HSPA8_uc009zbc.2_Silent_p.P232P|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Silent_p.P391P	p.P468P	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1482	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	468					Q9H3R6	Silent	SNP	ENST00000532636.1	37	c.1404C>T	CCDS8440.1																																																																																				PASS	0.443	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			12	70	12	70	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134037997	134037997	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr11:134037997A>T	ENST00000534548.2	-	27	3531	c.3467T>A	c.(3466-3468)cTt>cAt	p.L1156H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1156					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.L1156H(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)		CATTGCCAAAAGCTTGATCTC	0.493																																						uc001qhd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5						c.(3466-3468)CTT>CAT		non-SMC condensin II complex, subunit D3							193.0	166.0	175.0					11																	134037997		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134037997A>T	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.3467T>A	11.37:g.134037997A>T	ENSP00000433681:p.Leu1156His					NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.L106H	p.L1156H	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)	27	4073	-	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)	1156					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3467T>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	a	26.6	4.750330	0.89753	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T	0.57436	1.26;0.4	5.52	5.52	0.82312	Armadillo-type fold (1);	0.060562	0.64402	D	0.000002	T	0.72692	0.3492	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.922	T	0.76542	-0.2921	10	0.87932	D	0	-20.5531	15.6428	0.77020	1.0:0.0:0.0:0.0	.	1156;216	P42695;Q96FA6	CNDD3_HUMAN;.	H	1156;61;192	ENSP00000433681:L1156H;ENSP00000435173:L192H	ENSP00000432532:L61H	L	-	2	0	NCAPD3	133543207	1.000000	0.71417	0.925000	0.36789	0.997000	0.91878	8.778000	0.91785	2.113000	0.64589	0.478000	0.44815	CTT		PASS	0.493	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		24	88	24	88	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31301044	31301044	+	IGR	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:31301044G>T								RP11-551L14.1 (30639 upstream) : FAM60A (132473 downstream)														p.R406R(1)									CTCTTAGGTCGAACATATGTG	0.468																																						uc010sjy.1																			1	Substitution - coding silent(1)		lung(1)								c.(1216-1218)CGA>AGA		RecName: Full=Ovostatin homolog 1; Flags: Precursor;							101.0	100.0	101.0					12																	31301044		1941	4150	6091	SO:0001628	intergenic_variant	0							g.chr12:31301044G>T																													12.37:g.31301044G>T							p.R406R							11	1216	-									Silent	SNP		37	c.1216C>A																																																																																				0	PASS	0.468									13	117	13	117	---	---	---	---
WNT10B	7480	broad.mit.edu	37	12	49361766	49361766	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:49361766G>A	ENST00000301061.4	-	4	1022	c.674C>T	c.(673-675)gCa>gTa	p.A225V	WNT10B_ENST00000403957.1_Missense_Mutation_p.H160Y|WNT10B_ENST00000407467.1_Missense_Mutation_p.H178Y	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	225					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A225V(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						TCGCATTCGTGCCTGGATGTC	0.542																																						uc001rss.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)	7						c.(673-675)GCA>GTA		wingless-type MMTV integration site family,							61.0	58.0	59.0					12																	49361766		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361766G>A	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.674C>T	12.37:g.49361766G>A	ENSP00000301061:p.Ala225Val					WNT10B_uc001rst.2_Missense_Mutation_p.H178Y	p.A225V	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	1020	-			225					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.674C>T	CCDS8775.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.51|13.51	2.257433|2.257433	0.39896|0.39896	.|.	.|.	ENSG00000169884|ENSG00000169884	ENST00000301061|ENST00000407467;ENST00000403957	T|D;D	0.76968|0.84223	-1.06|-1.77;-1.82	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80138|0.80138	0.4568|0.4568	L|L	0.58354|0.58354	1.805|1.805	0.25630|0.25630	N|N	0.98631|0.98631	D|B	0.63046|0.18166	0.992|0.026	D|B	0.64410|0.22880	0.925|0.042	T|T	0.64045|0.64045	-0.6499|-0.6499	10|9	0.41790|0.02654	T|T	0.15|1	.|.	12.4258|12.4258	0.55546|0.55546	0.0:0.0:0.8315:0.1684|0.0:0.0:0.8315:0.1684	.|.	225|178	O00744|Q4VAJ4	WN10B_HUMAN|.	V|Y	225|178;160	ENSP00000301061:A225V|ENSP00000384691:H178Y;ENSP00000385980:H160Y	ENSP00000301061:A225V|ENSP00000385980:H160Y	A|H	-|-	2|1	0|0	WNT10B|WNT10B	47648033|47648033	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.395000|9.395000	0.97266|0.97266	2.552000|2.552000	0.86080|0.86080	0.561000|0.561000	0.74099|0.74099	GCA|CAC		PASS	0.542	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		11	58	11	58	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52774341	52774341	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:52774341G>A	ENST00000257951.3	-	7	1296	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	410	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.A410A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCGGCCTCGGCCACTGCAG	0.647											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sah.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1228-1230)GCC>GCT		keratin, hair, basic, 4							24.0	20.0	21.0					12																	52774341		2201	4297	6498	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52774341G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1230C>T	12.37:g.52774341G>A			OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987		p.A410A	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1278	-	all_hematologic(5;0.12)		410			Rod.|Coil 2.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.1230C>T	CCDS8825.1																																																																																				PASS	0.647	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		4	27	4	27	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52979817	52979817	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:52979817G>A	ENST00000537672.2	-	9	1495	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	KRT72_ENST00000354310.4_Silent_p.P453P|KRT72_ENST00000398066.3_Silent_p.P307P|KRT72_ENST00000293745.2_Silent_p.P495P	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	495	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P495P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTTTGGCAAGGGGATCCTTGA	0.557																																						uc001sar.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1483-1485)CCC>CCT		keratin 72 isoform 1							156.0	140.0	145.0					12																	52979817		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52979817G>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1485C>T	12.37:g.52979817G>A						KRT72_uc001saq.2_Silent_p.P495P|KRT72_uc010sns.1_Silent_p.P453P|KRT72_uc010snt.1_Silent_p.P307P	p.P495P	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1571	-			495			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.1485C>T	CCDS8833.1																																																																																				PASS	0.557	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		39	176	39	176	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101576588	101576588	+	Silent	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:101576588T>C	ENST00000536262.2	-	9	1716	c.1158A>G	c.(1156-1158)caA>caG	p.Q386Q		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.Q386Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TACTCATTCCTTGGGAAATCC	0.383																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)CAA>CAG		solute carrier family 5 (iodide transporter),							84.0	81.0	82.0					12																	101576588		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576588T>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1158A>G	12.37:g.101576588T>C							p.Q386Q	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			9	1548	-			386			Cytoplasmic (Potential).			Silent	SNP	ENST00000536262.2	37	c.1158A>G	CCDS9080.1																																																																																				PASS	0.383	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		12	64	12	64	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102036228	102036228	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:102036228G>T	ENST00000550270.1	+	9	622	c.622G>T	c.(622-624)Gtg>Ttg	p.V208L	MYBPC1_ENST00000541119.1_Missense_Mutation_p.V196L|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V233L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V109L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V208L|MYBPC1_ENST00000392934.3_Missense_Mutation_p.V195L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V194L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V208L|MYBPC1_ENST00000549145.1_Missense_Mutation_p.V221L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V208L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V189L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V182L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V208L|MYBPC1_ENST00000360610.2_Missense_Mutation_p.V208L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V233L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	208					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.V208L(1)|p.V233L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGAACCCCAGGTGGACGTATG	0.552																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(622-624)GTG>TTG		myosin binding protein C, slow type isoform 3							122.0	102.0	109.0					12																	102036228		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036228G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.622G>T	12.37:g.102036228G>T	ENSP00000449702:p.Val208Leu					MYBPC1_uc001tif.1_Missense_Mutation_p.V221L|MYBPC1_uc001tig.2_Missense_Mutation_p.V233L|MYBPC1_uc010svq.1_Missense_Mutation_p.V195L|MYBPC1_uc001tih.2_Missense_Mutation_p.V233L|MYBPC1_uc001tij.2_Missense_Mutation_p.V208L|MYBPC1_uc010svr.1_Missense_Mutation_p.V208L|MYBPC1_uc010svs.1_Missense_Mutation_p.V208L|MYBPC1_uc010svt.1_Missense_Mutation_p.V196L|MYBPC1_uc010svu.1_Missense_Mutation_p.V189L|MYBPC1_uc001tik.2_Missense_Mutation_p.V182L	p.V208L	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			9	724	+			208					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.622G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342624	0.24339	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58506	0.36;0.34;0.33;0.35;0.35;0.33;0.35;0.35;0.36;0.33;0.48;0.34;0.34;0.37;0.35	5.52	-4.66	0.03329	.	0.530470	0.15682	N	0.249888	T	0.33265	0.0857	N	0.11106	0.095	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B	0.23490	0.028;0.086;0.001;0.049;0.049;0.012;0.081;0.049;0.002;0.081;0.081	B;B;B;B;B;B;B;B;B;B;B	0.26416	0.045;0.04;0.005;0.04;0.031;0.028;0.053;0.031;0.012;0.053;0.069	T	0.18398	-1.0338	9	.	.	.	.	15.1657	0.72821	0.7459:0.0:0.2541:0.0	.	189;196;208;208;195;182;208;208;233;233;221	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	L	182;208;208;208;195;194;233;221;208;233;208;189;196;233;109;208	ENSP00000448175:V182L;ENSP00000400908:V208L;ENSP00000388989:V208L;ENSP00000353822:V208L;ENSP00000376665:V195L;ENSP00000447362:V194L;ENSP00000354845:V233L;ENSP00000447660:V221L;ENSP00000447900:V208L;ENSP00000440034:V208L;ENSP00000446128:V189L;ENSP00000442847:V196L;ENSP00000354849:V233L;ENSP00000447116:V109L;ENSP00000449702:V208L	.	V	+	1	0	MYBPC1	100560359	0.994000	0.37717	0.027000	0.17364	0.579000	0.36224	0.516000	0.22817	-0.771000	0.04608	-0.484000	0.04775	GTG		PASS	0.552	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			8	71	8	71	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102057289	102057289	+	Silent	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:102057289T>A	ENST00000550270.1	+	20	2232	c.2232T>A	c.(2230-2232)atT>atA	p.I744I	MYBPC1_ENST00000541119.1_Silent_p.I732I|MYBPC1_ENST00000361466.2_Silent_p.I769I|MYBPC1_ENST00000551300.1_Silent_p.I645I|MYBPC1_ENST00000553190.1_Silent_p.I744I|MYBPC1_ENST00000392934.3_Silent_p.I731I|MYBPC1_ENST00000547509.1_Silent_p.I730I|MYBPC1_ENST00000452455.2_Silent_p.I744I|MYBPC1_ENST00000549145.1_Silent_p.I757I|MYBPC1_ENST00000545503.2_Silent_p.I744I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Silent_p.I725I|MYBPC1_ENST00000547405.1_Silent_p.I718I|MYBPC1_ENST00000441232.1_Silent_p.I744I|MYBPC1_ENST00000360610.2_Silent_p.I744I|MYBPC1_ENST00000361685.2_Silent_p.I769I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	744	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.I769I(1)|p.I744I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGACCACATTGGTGCAGCAG	0.443																																						uc001tii.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2230-2232)ATT>ATA		myosin binding protein C, slow type isoform 3							169.0	149.0	156.0					12																	102057289		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102057289T>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2232T>A	12.37:g.102057289T>A						MYBPC1_uc001tig.2_Silent_p.I769I|MYBPC1_uc010svq.1_Silent_p.I731I|MYBPC1_uc001tih.2_Silent_p.I769I|MYBPC1_uc001tij.2_Silent_p.I744I|MYBPC1_uc010svr.1_Silent_p.I744I|MYBPC1_uc010svs.1_Silent_p.I744I|MYBPC1_uc010svt.1_Silent_p.I732I|MYBPC1_uc010svu.1_Silent_p.I725I|MYBPC1_uc001tik.2_Silent_p.I718I|MYBPC1_uc001til.2_5'Flank|MYBPC1_uc001tim.2_5'Flank	p.I744I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			20	2334	+			744			Fibronectin type-III 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2232T>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509633	0.27036	.	.	ENSG00000196091	ENST00000540770	.	.	.	5.28	2.93	0.34026	.	.	.	.	.	T	0.47783	0.1464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17228	-1.0376	5	0.17369	T	0.5	.	7.7571	0.28930	0.0:0.23:0.0:0.77	.	.	.	.	R	769	.	ENSP00000439854:W769R	W	+	1	0	MYBPC1	100581420	0.669000	0.27502	0.998000	0.56505	0.996000	0.88848	-0.206000	0.09398	0.339000	0.23719	0.528000	0.53228	TGG		PASS	0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			20	57	20	57	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:122613736G>A	ENST00000319080.7	+	4	791	c.659G>A	c.(658-660)cGg>cAg	p.R220Q						MLX interacting protein									p.R220Q(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(658-660)CGG>CAG		MLX interacting protein							51.0	56.0	54.0					12																	122613736		1939	4141	6080	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613736G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.659G>A	12.37:g.122613736G>A	ENSP00000312834:p.Arg220Gln					MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	p.R220Q	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	659	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	220			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.659G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.133811	0.94517	.	.	ENSG00000175727	ENST00000319080	T	0.28454	1.61	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.58077	0.832	T	0.57991	-0.7715	9	0.72032	D	0.01	-13.8192	15.2244	0.73339	0.0:0.0:0.8582:0.1417	.	220	Q9HAP2	MLXIP_HUMAN	Q	220	ENSP00000312834:R220Q	ENSP00000312834:R220Q	R	+	2	0	MLXIP	121179690	1.000000	0.71417	0.727000	0.30756	0.970000	0.65996	7.973000	0.88032	1.212000	0.43366	0.655000	0.94253	CGG		PASS	0.557	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		3	14	3	14	---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132404121	132404121	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:132404121C>T	ENST00000321867.4	+	25	3140	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	ULK1_ENST00000540647.1_Missense_Mutation_p.S175F	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	930					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.S930F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGCCTGTCGTCCACTGTGAAG	0.647																																						uc001uje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2788-2790)TCC>TTC		Unc-51-like kinase 1							65.0	69.0	67.0					12																	132404121		2203	4299	6502	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132404121C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2789C>T	12.37:g.132404121C>T	ENSP00000324560:p.Ser930Phe						p.S930F	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	25	3057	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		930					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2789C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270049	0.80469	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.45668	0.89;0.89	4.84	4.84	0.62591	Serine/threonine-protein kinase, C-terminal (1);	0.210839	0.41396	D	0.000895	T	0.63248	0.2495	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.67329	-0.5698	10	0.72032	D	0.01	-41.8985	18.3252	0.90251	0.0:1.0:0.0:0.0	.	930	O75385	ULK1_HUMAN	F	930;175	ENSP00000324560:S930F;ENSP00000441794:S175F	ENSP00000324560:S930F	S	+	2	0	ULK1	130970074	0.999000	0.42202	0.996000	0.52242	0.942000	0.58702	2.972000	0.49256	2.404000	0.81709	0.561000	0.74099	TCC		PASS	0.647	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			9	94	9	94	---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132404132	132404132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr12:132404132C>T	ENST00000321867.4	+	25	3151	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*	ULK1_ENST00000540647.1_Nonsense_Mutation_p.Q179*	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	934					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.Q934*(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CACTGTGAAGCAGGGTGAGGG	0.637																																						uc001uje.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2800-2802)CAG>TAG		Unc-51-like kinase 1							62.0	66.0	65.0					12																	132404132		2203	4299	6502	SO:0001587	stop_gained	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132404132C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2800C>T	12.37:g.132404132C>T	ENSP00000324560:p.Gln934*						p.Q934*	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	25	3068	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		934					Q9UQ28	Nonsense_Mutation	SNP	ENST00000321867.4	37	c.2800C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	38	6.681634	0.97759	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	.	.	.	4.84	4.84	0.62591	.	0.138479	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9361	18.3252	0.90251	0.0:1.0:0.0:0.0	.	.	.	.	X	934;179	.	ENSP00000324560:Q934X	Q	+	1	0	ULK1	130970085	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.452000	0.80683	2.404000	0.81709	0.561000	0.74099	CAG		PASS	0.637	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			9	89	9	89	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39435583	39435583	+	Missense_Mutation	SNP	G	G	T	rs61978626	byFrequency	TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr13:39435583G>T	ENST00000280481.7	+	15	7751	c.7535G>T	c.(7534-7536)cGt>cTt	p.R2512L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2512					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2512L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTCAGCCCCGTGTACCTGGG	0.408																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7534-7536)CGT>CTT		FRAS1-related extracellular matrix protein 2							110.0	97.0	101.0					13																	39435583		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39435583G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7535G>T	13.37:g.39435583G>T	ENSP00000280481:p.Arg2512Leu					FREM2_uc001uww.2_Missense_Mutation_p.R598L	p.R2512L	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	15	7844	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2512			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7535G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083954	0.55861	.	.	ENSG00000150893	ENST00000280481	T	0.19532	2.14	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.71414	0.973;0.854	T	0.44528	-0.9322	10	0.06236	T	0.91	.	18.261	0.90035	0.0:0.0:1.0:0.0	.	2512;2512	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	L	2512	ENSP00000280481:R2512L	ENSP00000280481:R2512L	R	+	2	0	FREM2	38333583	1.000000	0.71417	0.616000	0.29078	0.185000	0.23345	5.608000	0.67654	2.368000	0.80403	0.655000	0.94253	CGT		PASS	0.408	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		18	74	18	74	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67800644	67800644	+	Silent	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr13:67800644A>G	ENST00000377865.2	-	1	2063	c.1929T>C	c.(1927-1929)ttT>ttC	p.F643F	PCDH9_ENST00000328454.5_Silent_p.F643F|PCDH9_ENST00000456367.1_Silent_p.F643F|PCDH9_ENST00000377861.3_Silent_p.F643F|PCDH9_ENST00000544246.1_Silent_p.F643F			Q9HC56	PCDH9_HUMAN	protocadherin 9	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F643F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTTTGACATCAAAAGTGTAGG	0.403																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1927-1929)TTT>TTC		protocadherin 9 isoform 1 precursor							115.0	101.0	106.0					13																	67800644		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800644A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1929T>C	13.37:g.67800644A>G						PCDH9_uc001vil.2_Silent_p.F643F|PCDH9_uc010thl.1_Silent_p.F643F|PCDH9_uc001vin.3_Silent_p.F643F	p.F643F	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2621	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	643			Extracellular (Potential).|Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.1929T>C	CCDS9444.1																																																																																				PASS	0.403	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		15	79	15	79	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681632	70681632	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr13:70681632G>A	ENST00000377844.4	-	1	959	c.200C>T	c.(199-201)aCt>aTt	p.T67I	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	67	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.T67I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCCAGAAAGTGCTCACACC	0.592																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)ACT>ATT		kelch-like 1 protein							85.0	93.0	90.0					13																	70681632		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681632G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.200C>T	13.37:g.70681632G>A	ENSP00000367075:p.Thr67Ile					KLHL1_uc010thm.1_Missense_Mutation_p.T67I|ATXN8OS_uc010aej.1_RNA	p.T67I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	994	-		Breast(118;0.000162)	67			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.200C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972299	0.34754	.	.	ENSG00000150361	ENST00000377844	T	0.71222	-0.55	5.19	4.33	0.51752	.	4.350220	0.00541	N	0.000223	T	0.54838	0.1883	N	0.08118	0	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.006;0.006	T	0.29427	-1.0012	10	0.23302	T	0.38	.	9.9778	0.41795	0.1541:0.0:0.8459:0.0	.	67;67	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	67	ENSP00000367075:T67I	ENSP00000367075:T67I	T	-	2	0	KLHL1	69579633	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.636000	0.54317	2.435000	0.82474	0.650000	0.86243	ACT		PASS	0.592	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		16	65	16	65	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518929	108518929	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr13:108518929A>G	ENST00000375915.2	-	1	154	c.16T>C	c.(16-18)Tgg>Cgg	p.W6R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	6						integral component of membrane (GO:0016021)		p.W6R(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGACACATCCAAGCACCCCTG	0.552																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(16-18)TGG>CGG		family with sequence similarity 155, member A							88.0	90.0	89.0					13																	108518929		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518929A>G	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.16T>C	13.37:g.108518929A>G	ENSP00000365080:p.Trp6Arg						p.W6R	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	532	-			6					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.16T>C	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019905	0.35606	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	2.62	0.31277	.	0.243912	0.37483	N	0.002078	T	0.37100	0.0991	N	0.12182	0.205	0.41711	D	0.989458	B	0.29805	0.257	B	0.40477	0.33	T	0.19257	-1.0311	9	0.51188	T	0.08	.	6.3651	0.21451	0.782:0.0:0.0776:0.1404	.	6	B1AL88	F155A_HUMAN	R	6	.	ENSP00000365080:W6R	W	-	1	0	FAM155A	107316930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.846000	0.55888	0.267000	0.21916	0.528000	0.53228	TGG		PASS	0.552	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		25	106	25	106	---	---	---	---
RNASE11	122651	broad.mit.edu	37	14	21052206	21052206	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr14:21052206G>T	ENST00000610205.1	-	3	611	c.428C>A	c.(427-429)cCt>cAt	p.P143H	RNASE11_ENST00000555841.1_Missense_Mutation_p.P143H|RNASE11_ENST00000398009.2_Missense_Mutation_p.P143H|RNASE11_ENST00000398008.2_Missense_Mutation_p.P143H|RNASE11_ENST00000553849.1_Missense_Mutation_p.P143H|RNASE11_ENST00000432835.2_Missense_Mutation_p.P143H	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	143						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.P143H(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GCTTATGCCAGGATTCTGTAC	0.512																																						uc010ahv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(427-429)CCT>CAT		ribonuclease, RNase A family, 11 (non-active)							77.0	68.0	71.0					14																	21052206		2203	4300	6503	SO:0001583	missense	122651					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21052206G>T	BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.428C>A	14.37:g.21052206G>T	ENSP00000476537:p.Pro143His					RNASE11_uc010ahx.2_Missense_Mutation_p.P143H|RNASE11_uc010ahw.2_Missense_Mutation_p.P143H|RNASE11_uc001vxs.2_Missense_Mutation_p.P143H	p.P143H	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)	2	613	-	all_cancers(95;0.00238)	all_lung(585;0.235)	143						Missense_Mutation	SNP	ENST00000610205.1	37	c.428C>A	CCDS9553.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237445	0.39498	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105	T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	3.94	-2.24	0.06909	Ribonuclease A, domain (3);	4.276090	0.00748	N	0.001047	T	0.38427	0.1040	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.54372	0.75	T	0.25950	-1.0117	10	0.45353	T	0.12	-20.8749	4.7033	0.12837	0.543:0.1741:0.2829:0.0	.	143	Q8TAA1	RNS11_HUMAN	H	143	ENSP00000338288:P143H;ENSP00000451318:P143H;ENSP00000451563:P143H;ENSP00000381093:P143H;ENSP00000381092:P143H;ENSP00000395210:P143H;ENSP00000401398:P143H;ENSP00000451839:P143H;ENSP00000452412:P143H	ENSP00000338288:P143H	P	-	2	0	RNASE11	20122046	0.000000	0.05858	0.000000	0.03702	0.799000	0.45148	-0.285000	0.08410	-0.424000	0.07382	0.511000	0.50034	CCT		PASS	0.512	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250		9	52	9	52	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51467493	51467493	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr14:51467493C>A	ENST00000298355.3	-	6	2493	c.1372G>T	c.(1372-1374)Gct>Tct	p.A458S	TRIM9_ENST00000360392.4_Missense_Mutation_p.A458S|TRIM9_ENST00000338969.5_Missense_Mutation_p.A454S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	458	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A454S(1)|p.A458S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GACAACGTAGCGCTGTTGTTG	0.522																																						uc001wyx.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|lung(1)	3						c.(1372-1374)GCT>TCT		tripartite motif protein 9 isoform 1							155.0	134.0	141.0					14																	51467493		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51467493C>A	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1372G>T	14.37:g.51467493C>A	ENSP00000298355:p.Ala458Ser					TRIM9_uc001wyy.2_Missense_Mutation_p.A454S|TRIM9_uc001wyz.3_Missense_Mutation_p.A458S	p.A458S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			6	2137	-	all_epithelial(31;0.00418)|Breast(41;0.148)		458			Fibronectin type-III.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1372G>T	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737006	0.96865	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.44083	1.43;0.93;1.43	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	M	0.80508	2.5	0.58432	D	0.999998	P;D;P	0.56521	0.841;0.976;0.937	D;P;P	0.68353	0.957;0.888;0.772	T	0.70565	-0.4837	10	0.66056	D	0.02	.	18.591	0.91212	0.0:1.0:0.0:0.0	.	458;454;458	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	S	458;454;458	ENSP00000298355:A458S;ENSP00000342970:A454S;ENSP00000353561:A458S	ENSP00000298355:A458S	A	-	1	0	TRIM9	50537243	1.000000	0.71417	0.893000	0.35052	0.972000	0.66771	7.818000	0.86416	2.648000	0.89879	0.591000	0.81541	GCT		PASS	0.522	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		12	65	12	65	---	---	---	---
ABCD4	5826	broad.mit.edu	37	14	74764641	74764641	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr14:74764641G>A	ENST00000356924.4	-	4	560	c.417C>T	c.(415-417)atC>atT	p.I139I	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Silent_p.I52I|ABCD4_ENST00000557588.1_Silent_p.I139I	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	139	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.I139I(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACGGGTTATCGATGTCATCCC	0.582																																						uc001xpr.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(415-417)ATC>ATT		ATP-binding cassette, sub-family D, member 4							108.0	90.0	96.0					14																	74764641		2203	4300	6503	SO:0001819	synonymous_variant	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74764641G>A	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.417C>T	14.37:g.74764641G>A						ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Silent_p.I52I|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_RNA	p.I139I	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	4	569	-			139			ABC transmembrane type-1.		A8K5L7|Q6IAQ0|Q96E75	Silent	SNP	ENST00000356924.4	37	c.417C>T	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419477	0.25552	.	.	ENSG00000119688	ENST00000556971	.	.	.	5.5	2.48	0.30137	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48031	-0.9070	4	.	.	.	.	8.1846	0.31330	0.1379:0.2863:0.5757:0.0	.	.	.	.	L	99	.	.	S	-	2	0	ABCD4	73834394	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.607000	0.36836	0.181000	0.19994	0.561000	0.74099	TCG		PASS	0.582	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		15	64	15	64	---	---	---	---
ZNF839	55778	broad.mit.edu	37	14	102792497	102792497	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr14:102792497C>T	ENST00000558850.1	+	2	466	c.116C>T	c.(115-117)cCg>cTg	p.P39L	ZNF839_ENST00000559185.1_Missense_Mutation_p.P39L|ZNF839_ENST00000442396.2_Missense_Mutation_p.P155L|ZNF839_ENST00000262236.5_Missense_Mutation_p.P39L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	39							metal ion binding (GO:0046872)	p.P155L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGTACAGCCGCTTGTGAGA	0.597																																						uc001ylo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(115-117)CCG>CTG		zinc finger protein 839							38.0	44.0	42.0					14																	102792497		1952	4161	6113	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792497C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.116C>T	14.37:g.102792497C>T	ENSP00000453363:p.Pro39Leu					ZNF839_uc010awk.1_Missense_Mutation_p.P155L|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Missense_Mutation_p.P39L|ZNF839_uc001ylr.2_Missense_Mutation_p.P39L	p.P39L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			2	466	+			39					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.116C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171109	0.57584	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.68479	-0.33;-0.33	4.55	2.66	0.31614	.	.	.	.	.	T	0.72859	0.3513	L	0.47716	1.5	0.32608	N	0.524989	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68039	0.919;0.955;0.955	T	0.75912	-0.3150	9	0.72032	D	0.01	.	9.5487	0.39297	0.1613:0.6836:0.1551:0.0	.	155;39;39	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	L	155;39	ENSP00000399863:P155L;ENSP00000262236:P39L	ENSP00000262236:P39L	P	+	2	0	ZNF839	101862250	0.995000	0.38212	0.018000	0.16275	0.125000	0.20455	3.801000	0.55545	0.346000	0.23899	-0.277000	0.10078	CCG		PASS	0.597	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		4	33	4	33	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	29997906	29997906	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:29997906C>G	ENST00000346128.6	-	26	5368	c.4894G>C	c.(4894-4896)Gtg>Ctg	p.V1632L	TJP1_ENST00000356107.6_Missense_Mutation_p.V1632L|TJP1_ENST00000545208.2_Missense_Mutation_p.V1552L|TJP1_ENST00000400011.2_Missense_Mutation_p.V1556L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1632	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V1632L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTGGCCACCACAGTATGACCA	0.458																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4894-4896)GTG>CTG		tight junction protein 1 isoform a							109.0	106.0	107.0					15																	29997906		1954	4155	6109	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:29997906C>G		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4894G>C	15.37:g.29997906C>G	ENSP00000281537:p.Val1632Leu					TJP1_uc010azl.2_Missense_Mutation_p.V1620L|TJP1_uc001zcq.2_Missense_Mutation_p.V1556L|TJP1_uc001zcs.2_Missense_Mutation_p.V1552L	p.V1632L	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	26	5369	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1632			ZU5.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4894G>C	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290053	0.80914	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.08896	3.04;3.08	4.96	4.96	0.65561	ZU5 (2);	0.062472	0.64402	D	0.000006	T	0.19846	0.0477	M	0.65975	2.015	0.80722	D	1	B;B;B;B	0.25743	0.133;0.042;0.045;0.081	B;B;B;B	0.40199	0.264;0.088;0.322;0.088	T	0.03993	-1.0986	10	0.66056	D	0.02	.	18.4059	0.90536	0.0:1.0:0.0:0.0	.	1625;1552;1632;1556	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1632;1556;1632;1552;1552	ENSP00000281537:V1632L;ENSP00000382890:V1556L	ENSP00000281537:V1632L	V	-	1	0	TJP1	27785198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.585000	0.87301	0.655000	0.94253	GTG		PASS	0.458	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		13	97	13	97	---	---	---	---
NOP10	55505	broad.mit.edu	37	15	34634212	34634212	+	Missense_Mutation	SNP	C	C	G	rs199661222		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:34634212C>G	ENST00000328848.4	-	2	255	c.152G>C	c.(151-153)cGc>cCc	p.R51P	NUTM1_ENST00000438749.3_5'Flank|NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Missense_Mutation_p.A32P	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	51					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)	p.R51P(1)		lung(1)|ovary(1)	2						CACCTTGAAGCGTTTCTTGAT	0.537																																						uc001zie.1																			1	Substitution - Missense(1)		lung(1)		0						c.(151-153)CGC>CCC		nucleolar protein family A, member 3							169.0	128.0	142.0					15																	34634212		2201	4298	6499	SO:0001583	missense	55505				pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr15:34634212C>G	AB043103	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117			14378	protein-coding gene	gene with protein product	"""homolog of yeast Nop10p"""	606471	"""nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)"""	NOLA3		11074001, 9843512	Standard	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	Q9NPE3	OTTHUMG00000129440	ENST00000328848.4:c.152G>C	15.37:g.34634212C>G	ENSP00000332198:p.Arg51Pro					C15orf55_uc010ucc.1_5'Flank|C15orf55_uc010ucd.1_5'Flank	p.R51P	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN			2	240	-			51						Missense_Mutation	SNP	ENST00000328848.4	37	c.152G>C	CCDS10037.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558523	0.65538	.	.	ENSG00000182117	ENST00000328848	T	0.81078	-1.45	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	.	.	.	0.26350	N	0.977225	P	0.46457	0.878	P	0.53450	0.726	T	0.81579	-0.0868	9	0.87932	D	0	.	17.9425	0.89029	0.0:1.0:0.0:0.0	.	51	Q9NPE3	NOP10_HUMAN	P	51	ENSP00000332198:R51P	ENSP00000332198:R51P	R	-	2	0	NOP10	32421504	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.606000	0.74159	2.525000	0.85131	0.655000	0.94253	CGC		PASS	0.537	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251602.2	NM_018648		8	56	8	56	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62201244	62201244	+	Silent	SNP	T	T	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:62201244T>G	ENST00000261517.5	-	65	8998	c.8925A>C	c.(8923-8925)gcA>gcC	p.A2975A	VPS13C_ENST00000249837.3_Silent_p.A2932A|VPS13C_ENST00000395896.4_Silent_p.A2975A|VPS13C_ENST00000395898.3_Silent_p.A2932A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.A2975A(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAAGGCAGGTGCAGATCCCT	0.373																																						uc002agz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(8923-8925)GCA>GCC		vacuolar protein sorting 13C protein isoform 2A							162.0	146.0	152.0					15																	62201244		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62201244T>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8925A>C	15.37:g.62201244T>G						VPS13C_uc002aha.2_Silent_p.A2932A|VPS13C_uc002ahb.1_Silent_p.A2975A|VPS13C_uc002ahc.1_Silent_p.A2932A|VPS13C_uc002ahd.1_Silent_p.A352A	p.A2975A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			65	8999	-			2975						Silent	SNP	ENST00000261517.5	37	c.8925A>C	CCDS32257.1																																																																																				PASS	0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		9	72	9	72	---	---	---	---
SNX33	257364	broad.mit.edu	37	15	75941618	75941618	+	Missense_Mutation	SNP	G	G	A	rs367776246		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:75941618G>A	ENST00000308527.5	+	1	1372	c.175G>A	c.(175-177)Gtc>Atc	p.V59I	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	59	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.V59I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGTGGAGATCGTCCGTTCTGG	0.607																																						uc002bau.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)GTC>ATC		sorting nexin 33		G	ILE/VAL	0,4394		0,0,2197	81.0	79.0	80.0		175	-10.2	0.0	15		80	1,8587	1.2+/-3.3	0,1,4293	no	missense	SNX33	NM_153271.1	29	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	benign	59/575	75941618	1,12981	2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941618G>A	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.175G>A	15.37:g.75941618G>A	ENSP00000311427:p.Val59Ile					IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	p.V59I	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN			1	271	+			59			SH3.		B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.175G>A	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.324720	0.00229	0.0	1.16E-4	ENSG00000173548	ENST00000308527	T	0.63580	-0.05	5.1	-10.2	0.00374	Src homology-3 domain (3);	0.985123	0.08305	N	0.966291	T	0.20495	0.0493	N	0.01289	-0.905	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	10	0.02654	T	1	1.7359	8.5288	0.33321	0.1108:0.5625:0.2438:0.0829	.	59	Q8WV41	SNX33_HUMAN	I	59	ENSP00000311427:V59I	ENSP00000311427:V59I	V	+	1	0	SNX33	73728673	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	-0.957000	0.03861	-1.611000	0.01581	-2.392000	0.00227	GTC		PASS	0.607	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		12	63	12	63	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	77020994	77020994	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:77020994C>T	ENST00000563290.1	-	17	2202	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	SCAPER_ENST00000538941.2_Missense_Mutation_p.E457K|SCAPER_ENST00000324767.7_Missense_Mutation_p.E703K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	703	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E703K(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTCTGTTGTTCAATTCGGGCT	0.448																																						uc002bby.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(2107-2109)GAA>AAA		S-phase cyclin A-associated protein in the ER							165.0	156.0	159.0					15																	77020994		1829	4075	5904	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77020994C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2107G>A	15.37:g.77020994C>T	ENSP00000454973:p.Glu703Lys					SCAPER_uc010bkr.2_Missense_Mutation_p.E11K|SCAPER_uc002bbx.2_Missense_Mutation_p.E457K|SCAPER_uc002bbz.1_Missense_Mutation_p.E574K|SCAPER_uc002bca.1_Missense_Mutation_p.E568K|SCAPER_uc002bcb.1_Missense_Mutation_p.E709K	p.E703K	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			16	2166	-			702			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.2107G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187518	0.94923	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.27256	1.71;1.68	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.42245	1.32	0.58432	D	0.999996	P;D;P	0.57571	0.765;0.98;0.849	P;P;P	0.58970	0.447;0.849;0.61	T	0.03728	-1.1009	10	0.32370	T	0.25	.	18.9347	0.92580	0.0:1.0:0.0:0.0	.	702;724;457	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	K	703;457;725	ENSP00000326924:E703K;ENSP00000442190:E457K	ENSP00000303560:E725K	E	-	1	0	SCAPER	74808049	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.295000	0.78780	2.554000	0.86153	0.563000	0.77884	GAA		PASS	0.448	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		34	140	34	140	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79064110	79064110	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:79064110G>A	ENST00000388820.4	-	15	2403	c.2193C>T	c.(2191-2193)gcC>gcT	p.A731A	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	731	Spacer.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A731A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGCAGCCTCGGCAACCTCTT	0.622																																						uc002bej.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2191-2193)GCC>GCT		ADAM metallopeptidase with thrombospondin type 1							67.0	51.0	56.0					15																	79064110		2196	4293	6489	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79064110G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2193C>T	15.37:g.79064110G>A						ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.A731A	p.A731A	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			15	2404	-			731			Spacer.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.2193C>T	CCDS32303.1																																																																																				PASS	0.622	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		11	52	11	52	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81593686	81593686	+	Splice_Site	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:81593686C>T	ENST00000302987.4	+	14	3151	c.3151C>T	c.(3151-3153)Ctt>Ttt	p.L1051F	IL16_ENST00000394660.2_Splice_Site_p.L1051F|IL16_ENST00000394652.2_Splice_Site_p.L350F|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1051	Interaction with HTLV-1 tax.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1005F(1)|p.L1051F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTATGAAAGCCTTTCAGAGCT	0.443																																						uc002bgh.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(3151-3153)CTT>TTT		interleukin 16 isoform 2							79.0	74.0	76.0					15																	81593686		2203	4300	6503	SO:0001630	splice_region_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81593686C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3150-1C>T	15.37:g.81593686C>T						IL16_uc010blq.1_Missense_Mutation_p.L1005F|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.L1093F|IL16_uc002bgg.2_Missense_Mutation_p.L1051F|IL16_uc002bgi.1_Missense_Mutation_p.L441F|IL16_uc002bgj.2_Missense_Mutation_p.L545F|IL16_uc002bgk.2_Missense_Mutation_p.L350F|IL16_uc002bgl.1_Missense_Mutation_p.L350F|IL16_uc010unq.1_Missense_Mutation_p.L350F	p.L1051F	NM_172217	NP_757366	Q14005	IL16_HUMAN			15	3527	+			1051			Interaction with HTLV-1 tax.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3151C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216158	0.39201	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.15372	2.43;2.43;3.02	4.87	4.87	0.63330	.	0.000000	0.38897	N	0.001535	T	0.40423	0.1116	M	0.74258	2.255	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.997;0.997;0.999;0.999	T	0.27706	-1.0066	10	0.72032	D	0.01	.	11.5106	0.50490	0.0:0.9171:0.0:0.0829	.	883;544;588;441;1051;1051	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	F	1051;883;1051;588;441;350;350	ENSP00000378155:L1051F;ENSP00000302935:L1051F;ENSP00000378147:L350F	ENSP00000302935:L1051F	L	+	1	0	IL16	79380741	1.000000	0.71417	0.764000	0.31436	0.091000	0.18340	2.591000	0.46163	2.258000	0.74832	0.561000	0.74099	CTT		PASS	0.443	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	Missense_Mutation	13	39	13	39	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85476424	85476424	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:85476424G>C	ENST00000286749.3	+	12	1222	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	SLC28A1_ENST00000537624.1_Missense_Mutation_p.A378P|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A378P|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A378P|SLC28A1_ENST00000538177.1_Intron			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	378					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.A378P(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TGCCCCTTGTGCCTTGGCCCT	0.562																																						uc002blg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1132-1134)GCC>CCC		solute carrier family 28, member 1 isoform 1							174.0	146.0	156.0					15																	85476424		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476424G>C	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1132G>C	15.37:g.85476424G>C	ENSP00000286749:p.Ala378Pro					SLC28A1_uc010bnb.2_Missense_Mutation_p.A378P|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A378P|SLC28A1_uc010upg.1_Missense_Mutation_p.A378P	p.A378P	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1334	+			378			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1132G>C	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093332	0.94149	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	4.4	4.4	0.53042	Na dependent nucleoside transporter, C-terminal (1);	0.052774	0.85682	D	0.000000	T	0.44808	0.1311	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.79784	0.993;0.972;0.993	T	0.61931	-0.6961	10	0.87932	D	0	-5.0408	14.5391	0.67980	0.0:0.0:1.0:0.0	.	378;378;378	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	P	378	ENSP00000440546:A378P;ENSP00000444700:A378P;ENSP00000286749:A378P;ENSP00000378074:A378P	ENSP00000286749:A378P	A	+	1	0	SLC28A1	83277428	1.000000	0.71417	0.810000	0.32431	0.985000	0.73830	9.312000	0.96287	2.268000	0.75426	0.563000	0.77884	GCC		PASS	0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			32	171	32	171	---	---	---	---
UNC45A	55898	broad.mit.edu	37	15	91483669	91483669	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:91483669C>T	ENST00000418476.2	+	6	693	c.653C>T	c.(652-654)aCg>aTg	p.T218M	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000394275.2_Missense_Mutation_p.T203M	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	218					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T218M(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTCTGCGTACGCTGGTTGGC	0.547																																						uc002bqg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(652-654)ACG>ATG		smooth muscle cell associated protein-1 isoform							189.0	137.0	155.0					15																	91483669		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91483669C>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.653C>T	15.37:g.91483669C>T	ENSP00000407487:p.Thr218Met					UNC45A_uc002bqd.2_Missense_Mutation_p.T203M|UNC45A_uc010uqo.1_Missense_Mutation_p.T210M|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.T218M	p.T218M	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		6	993	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		218					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.653C>T	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780249	0.90195	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.50277	0.75;0.75	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.053940	0.64402	D	0.000001	T	0.70002	0.3174	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.70241	-0.4926	10	0.56958	D	0.05	-24.427	19.8567	0.96761	0.0:1.0:0.0:0.0	.	218;210;218;203	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	M	203;218	ENSP00000377816:T203M;ENSP00000407487:T218M	ENSP00000377816:T203M	T	+	2	0	UNC45A	89284673	1.000000	0.71417	0.956000	0.39512	0.778000	0.44026	7.672000	0.83956	2.764000	0.94973	0.650000	0.86243	ACG		PASS	0.547	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		12	85	12	85	---	---	---	---
ASB7	140460	broad.mit.edu	37	15	101169983	101169983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr15:101169983C>T	ENST00000332783.7	+	5	1338	c.553C>T	c.(553-555)Cga>Tga	p.R185*	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Nonsense_Mutation_p.R185*	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	185					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R185*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TTTCCTGTTGCGATACGCCGT	0.493																																						uc002bwk.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(553-555)CGA>TGA		ankyrin repeat and SOCS box-containing protein 7							128.0	96.0	107.0					15																	101169983		2203	4300	6503	SO:0001587	stop_gained	140460				intracellular signal transduction			g.chr15:101169983C>T		CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.553C>T	15.37:g.101169983C>T	ENSP00000328327:p.Arg185*					ASB7_uc002bwj.2_Nonsense_Mutation_p.R185*	p.R185*	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		5	1322	+	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		185			ANK 6.		A8K1E5|Q6GSJ6|Q7Z4S3	Nonsense_Mutation	SNP	ENST00000332783.7	37	c.553C>T	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	44	10.583248	0.99432	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	.	.	.	5.53	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-12.3676	16.0694	0.80911	0.1352:0.8648:0.0:0.0	.	.	.	.	X	185	.	ENSP00000328327:R185X	R	+	1	2	ASB7	98987506	1.000000	0.71417	0.947000	0.38551	0.992000	0.81027	5.599000	0.67592	1.452000	0.47756	0.650000	0.86243	CGA		PASS	0.493	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		7	52	7	52	---	---	---	---
RPUSD1	113000	broad.mit.edu	37	16	837656	837656	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:837656G>C	ENST00000561734.1	-	1	325	c.82C>G	c.(82-84)Cgc>Ggc	p.R28G	CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_Missense_Mutation_p.R28G|RPUSD1_ENST00000567114.1_Intron|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R28G			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	28					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R28G(1)		endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CTGTCAATGCGAACGTCCCAG	0.647																																						uc002cka.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)CGC>GGC		RNA pseudouridylate synthase domain containing							63.0	59.0	60.0					16																	837656		2198	4299	6497	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:837656G>C	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.82C>G	16.37:g.837656G>C	ENSP00000455026:p.Arg28Gly					RPUSD1_uc002ckb.2_Missense_Mutation_p.R28G|RPUSD1_uc002ckc.2_Intron|RPUSD1_uc002ckd.2_Missense_Mutation_p.R28G|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	p.R28G	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN			1	316	-		Hepatocellular(780;0.00335)	28					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.82C>G	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586355	0.86851	.	.	ENSG00000007376	ENST00000007264	T	0.13657	2.57	4.18	4.18	0.49190	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	M	0.72894	2.215	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.19484	-1.0304	10	0.87932	D	0	-45.3453	15.2242	0.73336	0.0:0.0:1.0:0.0	.	28	Q9UJJ7	RUSD1_HUMAN	G	28	ENSP00000007264:R28G	ENSP00000007264:R28G	R	-	1	0	RPUSD1	777657	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.547000	0.82146	2.166000	0.68216	0.478000	0.44815	CGC		PASS	0.647	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		10	67	10	67	---	---	---	---
E4F1	1877	broad.mit.edu	37	16	2278471	2278471	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:2278471C>T	ENST00000301727.4	+	2	304	c.256C>T	c.(256-258)Cct>Tct	p.P86S	E4F1_ENST00000565090.1_Missense_Mutation_p.P86S|E4F1_ENST00000564139.1_Missense_Mutation_p.P86S	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	86					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P86S(1)		ovary(1)	1						CCAGCGGGCCCCTCCGGAGGC	0.652																																						uc002cpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)CCT>TCT		p120E4F							25.0	30.0	28.0					16																	2278471		2198	4298	6496	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2278471C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.256C>T	16.37:g.2278471C>T	ENSP00000301727:p.Pro86Ser					E4F1_uc010bsi.2_Missense_Mutation_p.P86S|E4F1_uc010bsj.2_Missense_Mutation_p.P86S	p.P86S	NM_004424	NP_004415	Q66K89	E4F1_HUMAN			2	304	+			86					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.256C>T	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862748	0.32884	.	.	ENSG00000167967	ENST00000301727	T	0.06687	3.27	4.07	3.08	0.35506	.	0.338628	0.32106	N	0.006566	T	0.18882	0.0453	L	0.55481	1.735	0.09310	N	1	P;P;D	0.89917	0.932;0.932;1.0	P;P;D	0.83275	0.573;0.55;0.996	T	0.01528	-1.1332	10	0.38643	T	0.18	-14.5395	7.9051	0.29757	0.0:0.8824:0.0:0.1176	.	82;86;86	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	S	86	ENSP00000301727:P86S	ENSP00000301727:P86S	P	+	1	0	E4F1	2218472	0.010000	0.17322	0.757000	0.31301	0.642000	0.38348	0.573000	0.23699	2.099000	0.63709	0.462000	0.41574	CCT		PASS	0.652	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		4	33	4	33	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31896502	31896502	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:31896502G>T	ENST00000300870.10	+	3	360	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	ZNF267_ENST00000394846.3_Missense_Mutation_p.D51Y	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D51Y(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTCTAAGCCGGACCTGATCAC	0.403																																						uc002ecs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(151-153)GAC>TAC		zinc finger protein 267							59.0	57.0	58.0					16																	31896502		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31896502G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.151G>T	16.37:g.31896502G>T	ENSP00000300870:p.Asp51Tyr						p.D51Y	NM_003414	NP_003405	Q14586	ZN267_HUMAN			3	360	+			51			KRAB.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.151G>T	CCDS32440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|g	4.351|4.351	0.064658|0.064658	0.08388|0.08388	.|.	.|.	ENSG00000185947|ENSG00000185947	ENST00000394846|ENST00000300870	.|T	.|0.00976	.|5.48	0.675|0.675	-0.703|-0.703	0.11261|0.11261	.|Krueppel-associated box (3);	.|.	.|.	.|.	.|.	.|T	.|0.02767	.|0.0083	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.67725	.|0.953	.|T	.|0.42172	.|-0.9467	.|8	.|0.54805	.|T	.|0.06	.|.	.|.	.|.	.|.	.|.	.|51	.|Q14586	.|ZN267_HUMAN	.|Y	-1|51	.|ENSP00000300870:D51Y	.|ENSP00000300870:D51Y	.|D	+|+	.|1	.|0	ZNF267|ZNF267	31804003|31804003	0.015000|0.015000	0.18098|0.18098	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	1.862000|1.862000	0.39448|0.39448	-0.251000|-0.251000	0.09542|0.09542	0.491000|0.491000	0.48974|0.48974	.|GAC		PASS	0.403	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		8	51	8	51	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66943978	66943978	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:66943978G>T	ENST00000299752.4	-	16	2379	c.2186C>A	c.(2185-2187)aCc>aAc	p.T729N	CDH16_ENST00000565796.1_Missense_Mutation_p.T690N|CDH16_ENST00000570262.1_Missense_Mutation_p.T649N|CDH16_ENST00000394055.3_Missense_Mutation_p.T707N|CDH16_ENST00000568632.1_Missense_Mutation_p.T632N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	729	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.T729N(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGGGCCAAGGTGAGGTAGGC	0.622																																						uc002eql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2185-2187)ACC>AAC		cadherin 16 precursor							135.0	116.0	123.0					16																	66943978		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66943978G>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2186C>A	16.37:g.66943978G>T	ENSP00000299752:p.Thr729Asn					CDH16_uc010cdy.2_Missense_Mutation_p.T707N|CDH16_uc002eqm.2_Missense_Mutation_p.T632N	p.T729N	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	16	2259	-		Ovarian(137;0.0563)	729			Extracellular (Potential).|Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.2186C>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417812	0.62622	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.58652	0.32;0.32	4.73	3.75	0.43078	.	0.068601	0.64402	D	0.000016	T	0.63604	0.2525	M	0.63428	1.95	0.34894	D	0.745825	D;D;P	0.67145	0.979;0.996;0.938	P;P;P	0.55749	0.776;0.783;0.502	T	0.70835	-0.4764	10	0.31617	T	0.26	-16.1436	10.5477	0.45070	0.0:0.1958:0.8042:0.0	.	707;729;729	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	N	707;729;693	ENSP00000377619:T707N;ENSP00000299752:T729N	ENSP00000299752:T729N	T	-	2	0	CDH16	65501479	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.897000	0.39799	1.174000	0.42811	0.561000	0.74099	ACC		PASS	0.622	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		17	70	17	70	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72992281	72992281	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:72992281C>T	ENST00000268489.5	-	2	2436	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	588					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L588L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGCGAAGTCCAGCCTCCTGC	0.532																																						uc002fck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1762-1764)CTG>CTA		zinc finger homeobox 3 isoform A							104.0	100.0	101.0					16																	72992281		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992281C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1764G>A	16.37:g.72992281C>T						ZFHX3_uc002fcl.2_Intron	p.L588L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	2437	-		Ovarian(137;0.13)	588					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1764G>A	CCDS10908.1																																																																																				PASS	0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	53	11	53	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84516199	84516199	+	Splice_Site	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:84516199A>G	ENST00000343629.6	-	6	1258	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	TLDC1_ENST00000535580.1_Splice_Site_p.L332P	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	359	TLD.					lysosomal membrane (GO:0005765)		p.L359P(1)									CGGGCTCACCAGTCCGTTCGG	0.602																																						uc002fib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1075-1077)CTG>CCG		hypothetical protein LOC57707							171.0	142.0	152.0					16																	84516199		2200	4300	6500	SO:0001630	splice_region_variant	57707						protein binding	g.chr16:84516199A>G	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1077+1T>C	16.37:g.84516199A>G						KIAA1609_uc010vod.1_Missense_Mutation_p.L332P|KIAA1609_uc002fic.2_RNA	p.L359P	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			6	1183	-			359			TLD.		Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.1076T>C	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152089	0.57259	.	.	ENSG00000140950	ENST00000343629;ENST00000545792;ENST00000535580	T;T	0.55930	0.49;0.49	5.37	5.37	0.77165	TLDc (2);	0.000000	0.64402	D	0.000001	T	0.77987	0.4213	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83535	0.0093	10	0.87932	D	0	-25.5931	14.5607	0.68133	1.0:0.0:0.0:0.0	.	332;359	F5GWS3;Q6P9B6	.;K1609_HUMAN	P	359;27;332	ENSP00000343635:L359P;ENSP00000441997:L332P	ENSP00000343635:L359P	L	-	2	0	KIAA1609	83073700	1.000000	0.71417	0.982000	0.44146	0.022000	0.10575	8.668000	0.91158	2.036000	0.60181	0.533000	0.62120	CTG		PASS	0.602	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	Missense_Mutation	5	54	5	54	---	---	---	---
ZNF778	197320	broad.mit.edu	37	16	89289672	89289672	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr16:89289672C>T	ENST00000433976.2	+	4	557	c.225C>T	c.(223-225)taC>taT	p.Y75Y	ZNF778_ENST00000306502.6_Silent_p.Y5Y	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	75	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)	p.Y75Y(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGGAAAACTACGAGAACCTGG	0.522																																						uc002fmv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)TAC>TAT		zinc finger protein 778							156.0	155.0	156.0					16																	89289672		2198	4300	6498	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89289672C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.225C>T	16.37:g.89289672C>T						ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.Y5Y|ZNF778_uc010vpg.1_Intron	p.Y75Y	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	4	564	+			75			KRAB.		Q08AG0	Silent	SNP	ENST00000433976.2	37	c.225C>T	CCDS45550.1																																																																																				PASS	0.522	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		10	119	10	119	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2598546	2598546	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:2598546C>A	ENST00000570628.2	-	15	2561	c.2456G>T	c.(2455-2457)cGc>cTc	p.R819L	CLUH_ENST00000538975.1_Missense_Mutation_p.R819L|CLUH_ENST00000435359.1_Missense_Mutation_p.R819L			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	819					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.R820L(2)									CTTGGCCGAGCGGGTGATGAG	0.627																																						uc002fuy.1																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2455-2457)CGC>CTC		hypothetical protein LOC23277							101.0	109.0	106.0					17																	2598546		1974	4153	6127	SO:0001583	missense	23277						binding	g.chr17:2598546C>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2456G>T	17.37:g.2598546C>A	ENSP00000458986:p.Arg819Leu					KIAA0664_uc002fux.1_Missense_Mutation_p.R752L|KIAA0664_uc010ckc.1_5'Flank	p.R819L	NM_015229	NP_056044	O75153	K0664_HUMAN			15	2542	-			819					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.2456G>T	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477481	0.96291	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.90955	-2.76;-2.76	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96592	0.8888	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97295	0.9927	10	0.87932	D	0	.	18.3831	0.90457	0.0:1.0:0.0:0.0	.	819;820	O75153;C9J6D7	K0664_HUMAN;.	L	819;820;819	ENSP00000388872:R819L;ENSP00000439628:R819L	ENSP00000320468:R820L	R	-	2	0	KIAA0664	2545296	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.271000	0.78506	2.606000	0.88127	0.491000	0.48974	CGC		PASS	0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		16	90	16	90	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:7577097C>A	ENST00000269305.4	-	8	1030	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000420246.2_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y	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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		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		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.D281E(25)|p.D281H(19)|p.D281N(18)|p.D281G(10)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.D281V(3)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM076566	TP53	M		c.(841-843)GAC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							80.0	69.0	73.0					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577097C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>T	17.37:g.7577097C>A	ENSP00000269305:p.Asp281Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.D281Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D149Y|TP53_uc010cng.1_Missense_Mutation_p.D149Y|TP53_uc002gii.1_Missense_Mutation_p.D149Y|TP53_uc010cnh.1_Missense_Mutation_p.D281Y|TP53_uc010cni.1_Missense_Mutation_p.D281Y|TP53_uc002gij.2_Missense_Mutation_p.D281Y	p.D281Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1035	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> Y (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> A (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.841G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892841	0.91889	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	281;281;281;281;281;270;149	ENSP00000352610:D281Y;ENSP00000269305:D281Y;ENSP00000398846:D281Y;ENSP00000391127:D281Y;ENSP00000391478:D281Y;ENSP00000425104:D149Y	ENSP00000269305:D281Y	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		PASS	0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	35	4	35	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10408585	10408585	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:10408585A>G	ENST00000226207.5	-	21	2424	c.2330T>C	c.(2329-2331)cTa>cCa	p.L777P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	777	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L777P(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCTCCTCTAGGAGCCCCAG	0.473																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(2329-2331)CTA>CCA		myosin, heavy chain 1, skeletal muscle, adult							66.0	69.0	68.0					17																	10408585		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408585A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2330T>C	17.37:g.10408585A>G	ENSP00000226207:p.Leu777Pro					uc002gml.1_Intron	p.L777P	NM_005963	NP_005954	P12882	MYH1_HUMAN			21	2424	-			777			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.2330T>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136775	0.77662	.	.	ENSG00000109061	ENST00000226207	T	0.77489	-1.1	5.47	5.47	0.80525	Myosin head, motor domain (1);	0.000000	0.33670	U	0.004673	D	0.93559	0.7944	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96361	0.9266	10	0.87932	D	0	.	15.8518	0.78937	1.0:0.0:0.0:0.0	.	777	P12882	MYH1_HUMAN	P	777	ENSP00000226207:L777P	ENSP00000226207:L777P	L	-	2	0	MYH1	10349310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.085000	0.94083	2.216000	0.71823	0.528000	0.53228	CTA		PASS	0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		17	50	17	50	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656471	12656471	+	Missense_Mutation	SNP	T	T	A	rs113274254	byFrequency	TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:12656471T>A	ENST00000343344.4	+	10	1866	c.1866T>A	c.(1864-1866)aaT>aaA	p.N622K	AC005358.1_ENST00000609971.1_Missense_Mutation_p.N526K|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.N622K			Q8IZQ8	MYCD_HUMAN	myocardin	622					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.N622K(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATCAAACCAATGTACTTTCTT	0.537																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1864-1866)AAT>AAA		myocardin isoform 2							148.0	155.0	153.0					17																	12656471		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656471T>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1866T>A	17.37:g.12656471T>A	ENSP00000341835:p.Asn622Lys					MYOCD_uc002gno.2_Missense_Mutation_p.N622K|MYOCD_uc002gnp.1_Missense_Mutation_p.N526K|MYOCD_uc002gnq.2_Missense_Mutation_p.N341K	p.N622K	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2165	+			622					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1866T>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012668	0.19277	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.41400	1.02;1.0	5.6	-5.48	0.02592	.	1.231350	0.05238	N	0.511595	T	0.22975	0.0555	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.004;0.002	B;B;B;B	0.09377	0.001;0.004;0.004;0.002	T	0.20207	-1.0282	10	0.17369	T	0.5	-3.6779	6.2873	0.21041	0.1286:0.5765:0.1172:0.1777	.	341;526;622;622	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	K	341;622;622;526;327	ENSP00000341835:N622K;ENSP00000400148:N327K	ENSP00000341835:N622K	N	+	3	2	MYOCD	12597196	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-0.492000	0.06687	-1.259000	0.01468	AAT		PASS	0.537	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		37	143	37	143	---	---	---	---
PSMD3	5709	broad.mit.edu	37	17	38142893	38142893	+	Silent	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:38142893C>G	ENST00000264639.4	+	3	651	c.477C>G	c.(475-477)ctC>ctG	p.L159L	PSMD3_ENST00000541736.1_Silent_p.L21L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L159L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CGACACCCCTCCTGCCTGAAG	0.527																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(475-477)CTC>CTG		proteasome 26S non-ATPase subunit 3							175.0	159.0	165.0					17																	38142893		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142893C>G	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.477C>G	17.37:g.38142893C>G						PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.L60L	p.L159L	NM_002809	NP_002800	O43242	PSMD3_HUMAN			3	641	+	Colorectal(19;0.000442)		159					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.477C>G	CCDS11356.1																																																																																				PASS	0.527	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		27	167	27	167	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38179470	38179470	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:38179470C>A	ENST00000394128.2	-	20	2245	c.2164G>T	c.(2164-2166)Ggc>Tgc	p.G722C	MED24_ENST00000356271.3_Missense_Mutation_p.G709C|MED24_ENST00000501516.3_Missense_Mutation_p.G741C|MED24_ENST00000394127.2_Missense_Mutation_p.G709C|MED24_ENST00000394126.1_Missense_Mutation_p.G747C	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	722					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G722C(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCCACCCAGCCCTTCTCCAGC	0.587																																						uc002htt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2164-2166)GGC>TGC		mediator complex subunit 24 isoform 1							66.0	61.0	63.0					17																	38179470		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38179470C>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2164G>T	17.37:g.38179470C>A	ENSP00000377686:p.Gly722Cys					MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.G57C|MED24_uc010wes.1_Missense_Mutation_p.G582C|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.G747C|MED24_uc002htu.2_Missense_Mutation_p.G709C|MED24_uc010cwn.2_Missense_Mutation_p.G709C|MED24_uc010weu.1_Missense_Mutation_p.G632C|MED24_uc010wev.1_Missense_Mutation_p.G672C|MED24_uc010wew.1_Missense_Mutation_p.G663C	p.G722C	NM_014815	NP_055630	O75448	MED24_HUMAN			20	2477	-	Colorectal(19;0.000442)		722					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.2164G>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764029	0.49574	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000535508;ENST00000501516;ENST00000431269	T;T;T;T	0.69685	-0.42;-0.42;-0.42;0.93	4.43	4.43	0.53597	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81133	0.4759	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84093	0.0391	10	0.87932	D	0	-20.9832	17.2528	0.87047	0.0:1.0:0.0:0.0	.	672;632;632;709;722;664	F5H5K2;F8W9R9;B4E1A5;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	C	722;722;722;672;709;664;283;193;632	ENSP00000377686:G722C;ENSP00000443344:G672C;ENSP00000377685:G709C;ENSP00000440100:G193C	ENSP00000348610:G722C	G	-	1	0	MED24	35432996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.613000	0.82986	2.280000	0.76307	0.561000	0.74099	GGC		PASS	0.587	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		7	43	7	43	---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42337271	42337271	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:42337271C>A	ENST00000262418.6	-	7	670	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	172	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.G172V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGCTTCACACCCCCCAGGGC	0.602																																						uc002igf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(514-516)GGT>GTT		solute carrier family 4, anion exchanger, member							86.0	74.0	78.0					17																	42337271		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42337271C>A		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.515G>T	17.37:g.42337271C>A	ENSP00000262418:p.Gly172Val					SLC4A1_uc002igg.3_Missense_Mutation_p.G172V	p.G172V	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	7	664	-		Breast(137;0.014)|Prostate(33;0.0181)	172			Cytoplasmic.		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.515G>T	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.863408	0.51482	.	.	ENSG00000004939	ENST00000262418	T	0.79554	-1.28	5.19	5.19	0.71726	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.464095	0.18029	N	0.153965	D	0.82623	0.5077	M	0.69823	2.125	0.54753	D	0.999987	P;B	0.39311	0.667;0.032	B;B	0.44133	0.442;0.039	T	0.82129	-0.0610	10	0.40728	T	0.16	.	14.2885	0.66260	0.0:1.0:0.0:0.0	.	172;172	E2RVJ0;P02730	.;B3AT_HUMAN	V	172	ENSP00000262418:G172V	ENSP00000262418:G172V	G	-	2	0	SLC4A1	39692797	0.007000	0.16637	0.934000	0.37439	0.274000	0.26718	1.386000	0.34419	2.440000	0.82611	0.456000	0.33151	GGT		PASS	0.602	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		13	85	13	85	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47122358	47122358	+	Silent	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:47122358A>T	ENST00000290341.3	+	12	1660	c.1326A>T	c.(1324-1326)gcA>gcT	p.A442A	IGF2BP1_ENST00000431824.2_Silent_p.A303A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	442	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.A442A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTAGATTGCACCACCCGAAA	0.483																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1324-1326)GCA>GCT		insulin-like growth factor 2 mRNA binding							206.0	182.0	190.0					17																	47122358		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47122358A>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1326A>T	17.37:g.47122358A>T						IGF2BP1_uc010dbj.2_Silent_p.A303A	p.A442A	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			12	1660	+			442			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Silent	SNP	ENST00000290341.3	37	c.1326A>T	CCDS11543.1																																																																																				PASS	0.483	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		18	127	18	127	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58257998	58257998	+	Splice_Site	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:58257998A>G	ENST00000300896.4	-	33	4743	c.4549T>C	c.(4549-4551)Tgc>Cgc	p.C1517R	USP32_ENST00000592339.1_Splice_Site_p.C1187R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1517	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C1517R(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTGAATGGCACTGTAAGAGA	0.443																																						uc002iyo.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|large_intestine(1)	5						c.(4549-4551)TGC>CGC		ubiquitin specific protease 32							114.0	98.0	103.0					17																	58257998		2203	4300	6503	SO:0001630	splice_region_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58257998A>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4549-1T>C	17.37:g.58257998A>G						USP32_uc002iyn.1_Missense_Mutation_p.C1187R	p.C1517R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		33	4835	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1517					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4549T>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418770	0.83559	.	.	ENSG00000170832	ENST00000300896	T	0.30448	1.53	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.52426	-0.8577	10	0.56958	D	0.05	.	15.1689	0.72854	1.0:0.0:0.0:0.0	.	1517	Q8NFA0	UBP32_HUMAN	R	1517	ENSP00000300896:C1517R	ENSP00000300896:C1517R	C	-	1	0	USP32	55612780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.292000	0.96076	2.172000	0.68678	0.528000	0.53228	TGC		PASS	0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	Missense_Mutation	4	89	4	89	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74011538	74011538	+	Missense_Mutation	SNP	C	C	G	rs149246710		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr17:74011538C>G	ENST00000301607.3	-	15	2135	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	EVPL_ENST00000586740.1_Missense_Mutation_p.G650R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	628	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.G628R(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTCTCCCCGTAGAGGCTG	0.667																																						uc002jqi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(1882-1884)GGG>CGG		envoplakin							98.0	78.0	84.0					17																	74011538		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011538C>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1882G>C	17.37:g.74011538C>G	ENSP00000301607:p.Gly628Arg					EVPL_uc010wss.1_Missense_Mutation_p.G650R|EVPL_uc010wst.1_Missense_Mutation_p.G98R	p.G628R	NM_001988	NP_001979	Q92817	EVPL_HUMAN			15	2110	-			628			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1882G>C	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725150	0.30593	.	.	ENSG00000167880	ENST00000301607	T	0.31247	1.5	4.99	0.724	0.18236	.	0.682080	0.15609	N	0.253515	T	0.20373	0.0490	L	0.38838	1.175	0.31778	N	0.631244	B;B	0.16603	0.005;0.018	B;B	0.13407	0.005;0.009	T	0.34750	-0.9816	10	0.11794	T	0.64	-35.7437	10.551	0.45087	0.0:0.6788:0.0:0.3212	.	650;628	B7ZLH8;Q92817	.;EVPL_HUMAN	R	628	ENSP00000301607:G628R	ENSP00000301607:G628R	G	-	1	0	EVPL	71523133	0.000000	0.05858	0.642000	0.29436	0.971000	0.66376	0.355000	0.20163	-0.004000	0.14419	0.462000	0.41574	GGG		PASS	0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		14	67	14	67	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43217030	43217030	+	Silent	SNP	T	T	C	rs368391173		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr18:43217030T>C	ENST00000255226.6	+	6	1542	c.726T>C	c.(724-726)atT>atC	p.I242I	SLC14A2_ENST00000586448.1_Silent_p.I242I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	242					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.I242I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTTCAACATTGCAGTCACCT	0.517																																						uc010dnj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(724-726)ATT>ATC		solute carrier family 14 (urea transporter),		T	,	0,4406		0,0,2203	216.0	192.0	200.0		726,726	-10.1	0.0	18		200	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	242/921,242/921	43217030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43217030T>C	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.726T>C	18.37:g.43217030T>C						SLC14A2_uc002lbb.2_Silent_p.I242I|SLC14A2_uc002lbe.2_Silent_p.I242I	p.I242I	NM_007163	NP_009094	Q15849	UT2_HUMAN			7	1047	+			242			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.726T>C	CCDS11924.1																																																																																				PASS	0.517	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			31	187	31	187	---	---	---	---
MALT1	10892	broad.mit.edu	37	18	56348415	56348415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr18:56348415G>T	ENST00000348428.3	+	2	481	c.223G>T	c.(223-225)Gag>Tag	p.E75*	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Nonsense_Mutation_p.E75*	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	75	Death.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.E75*(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCTAGACCTGGAGCAGTGTTC	0.468			T	BIRC3	MALT																																	uc002lhm.1				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(223-225)GAG>TAG		mucosa associated lymphoid tissue lymphoma							118.0	118.0	118.0					18																	56348415		2203	4300	6503	SO:0001587	stop_gained	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56348415G>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.223G>T	18.37:g.56348415G>T	ENSP00000319279:p.Glu75*					MALT1_uc002lhn.1_Nonsense_Mutation_p.E75*	p.E75*	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			2	481	+			75			Death.		Q9NTB7|Q9ULX4	Nonsense_Mutation	SNP	ENST00000348428.3	37	c.223G>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	37	6.514730	0.97629	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	.	.	.	5.88	5.88	0.94601	.	0.228496	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-30.0975	15.3343	0.74238	0.0:0.1393:0.8607:0.0	.	.	.	.	X	75	.	ENSP00000304161:E75X	E	+	1	0	MALT1	54499395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.362000	0.73077	2.792000	0.96026	0.557000	0.71058	GAG		PASS	0.468	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			12	134	12	134	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67794916	67794917	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr18:67794916_67794917CC>AA	ENST00000255674.6	-	25	3490_3491	c.3204_3205GG>TT	c.(3202-3207)atGGct>atTTct	p.1068_1069MA>IS	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.1068_1069MA>IS	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1068					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.A1069S(1)|p.M1068I(1)|p.M1068_A1069>IS(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGCCCACTAGCCATGTGTGTTA	0.426																																						uc002lkp.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(3205-3207)GCT>TCT|c.(3202-3204)ATG>ATT		rotatin																																				SO:0001583	missense	25914						binding	g.chr18:67794916C>A|g.chr18:67794917C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3204_3205delinsAA	18.37:g.67794916_67794917delinsAA	ENSP00000255674:p.M1068_A1069delinsIS					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.A157S|RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.M156I	p.A1069S|p.M1068I	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			25	3273|3272	-		Esophageal squamous(42;0.129)	1069|1068					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.3205G>T|c.3204G>T	CCDS42443.1																																																																																				PASS	0.426	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		11|12	75|74	11	74	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Silent	SNP	G	G	T	rs574511728		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr18:70417577G>T	ENST00000327305.6	-	9	1918	c.1261C>A	c.(1261-1263)Cgg>Agg	p.R421R	NETO1_ENST00000299430.2_Silent_p.R420R|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.R421R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	421					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R421R(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458																																						uc002lkw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1261-1263)CGG>AGG		neuropilin- and tolloid-like protein 1 isoform 3							96.0	87.0	90.0					18																	70417577		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417577G>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1261C>A	18.37:g.70417577G>T						NETO1_uc002lkx.1_Silent_p.R420R|NETO1_uc002lky.1_Silent_p.R421R	p.R421R	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1545	-		Esophageal squamous(42;0.129)	421			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1261C>A	CCDS12000.1																																																																																				PASS	0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		6	47	6	47	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461632	12461632	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:12461632T>C	ENST00000242804.4	-	6	1349	c.767A>G	c.(766-768)gAa>gGa	p.E256G	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.E187G	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	256					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.E256G(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GTGTGTTCTTTCATGTCTTAG	0.403																																						uc002mtr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(766-768)GAA>GGA		zinc finger protein 442							170.0	170.0	170.0					19																	12461632		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461632T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.767A>G	19.37:g.12461632T>C	ENSP00000242804:p.Glu256Gly					ZNF442_uc010xmk.1_Missense_Mutation_p.E187G	p.E256G	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1378	-			256			C2H2-type 3.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.767A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379569	0.61845	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.18657	2.2;2.2	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	L	0.48174	1.505	0.29444	N	0.858965	D	0.76494	0.999	D	0.70016	0.967	T	0.14337	-1.0476	9	0.72032	D	0.01	.	5.8618	0.18752	0.0:0.0:0.0:1.0	.	256	Q9H7R0	ZN442_HUMAN	G	256;187	ENSP00000242804:E256G;ENSP00000388634:E187G	ENSP00000242804:E256G	E	-	2	0	ZNF442	12322632	0.000000	0.05858	0.072000	0.20136	0.788000	0.44548	0.026000	0.13599	0.617000	0.30160	0.260000	0.18958	GAA		PASS	0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		39	181	39	181	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13470527	13470527	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:13470527A>G	ENST00000360228.5	-	6	870	c.871T>C	c.(871-873)Tgg>Cgg	p.W291R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	291					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.W291R(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCCTTCCCAGTAGGGCTGA	0.547																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(871-873)TGG>CGG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						82.0	76.0	78.0					19																	13470527		1983	4165	6148	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13470527A>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.871T>C	19.37:g.13470527A>G	ENSP00000353362:p.Trp291Arg					CACNA1A_uc002mwy.3_Missense_Mutation_p.W291R	p.W291R	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		6	1107	-			291			I.|Extracellular (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.871T>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342361	0.61073	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97430	-4.38	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.90369	3.11	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99741	1.1015	10	0.87932	D	0	.	14.4787	0.67564	1.0:0.0:0.0:0.0	.	291;291	O00555;Q9NS88	CAC1A_HUMAN;.	R	291	ENSP00000353362:W291R	ENSP00000317661:W291R	W	-	1	0	CACNA1A	13331527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.088000	0.94132	2.058000	0.61347	0.533000	0.62120	TGG		PASS	0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	11	5	11	---	---	---	---
MAST3	23031	broad.mit.edu	37	19	18233561	18233561	+	Splice_Site	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:18233561G>A	ENST00000262811.6	+	5	312	c.312G>A	c.(310-312)tcG>tcA	p.S104S	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	104	Poly-Ser.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S126S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCACCCTCTCGGTACCCATAG	0.567																																						uc002nhz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|stomach(1)	5						c.(310-312)TCG>TCA		microtubule associated serine/threonine kinase							39.0	42.0	41.0					19																	18233561		1934	4130	6064	SO:0001630	splice_region_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18233561G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.312+1G>A	19.37:g.18233561G>A							p.S104S	NM_015016	NP_055831	O60307	MAST3_HUMAN			5	312	+			104			Poly-Ser.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.312G>A	CCDS46014.1																																																																																				PASS	0.567	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150	Silent	4	18	4	18	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18277949	18277949	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:18277949G>T	ENST00000593731.1	+	13	2129	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	PIK3R2_ENST00000222254.8_Silent_p.L523L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	523					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.L523L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GGATCCTGCTGAACTCCGAGC	0.632																																						uc002nia.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1567-1569)CTG>CTT		phosphoinositide-3-kinase, regulatory subunit 2							37.0	36.0	36.0					19																	18277949		2202	4299	6501	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18277949G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1569G>T	19.37:g.18277949G>T						PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.L523L	NM_005027	NP_005018	O00459	P85B_HUMAN			13	2081	+			523					Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.1569G>T	CCDS12371.1																																																																																				PASS	0.632	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	37	3	37	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					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.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1222-1224)TAC>TGC		zinc finger protein 626 isoform 1							59.0	62.0	61.0					19																	20807460		2156	4279	6435	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807460T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1223A>G	19.37:g.20807460T>C	ENSP00000469958:p.Tyr408Cys					ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	p.Y408C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1373	-			408			C2H2-type 9.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1223A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.833357	0.00579	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31845	0.965	0.20074	N	0.999937	B	0.06786	0.001	B	0.15052	0.012	T	0.20739	-1.0266	8	0.34782	T	0.22	.	5.5612	0.17144	0.0:0.0:0.0:1.0	.	408	Q68DY1	ZN626_HUMAN	C	408;332;408	.	ENSP00000445201:Y408C	Y	-	2	0	ZNF626	20599300	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-5.822000	0.00096	0.243000	0.21327	0.240000	0.17902	TAC		PASS	0.408	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		3	103	3	103	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363491	22363491	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:22363491C>G	ENST00000397121.2	-	3	1345	c.1028G>C	c.(1027-1029)gGg>gCg	p.G343A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					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.G343A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAAGCTTTCCCGCATTCTTC	0.408																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GGG>GCG		zinc finger protein 676							81.0	88.0	86.0					19																	22363491		2179	4283	6462	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363491C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1028G>C	19.37:g.22363491C>G	ENSP00000380310:p.Gly343Ala						p.G343A	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1346	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	343			C2H2-type 7.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1028G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.66	2.003748	0.35320	.	.	ENSG00000196109	ENST00000397121	T	0.01464	4.86	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	M	0.84846	2.72	0.26964	N	0.965745	D	0.71674	0.998	D	0.63877	0.919	T	0.08911	-1.0699	9	0.87932	D	0	.	7.3372	0.26617	0.0:0.7258:0.2742:0.0	.	343	Q8N7Q3	ZN676_HUMAN	A	343	ENSP00000380310:G343A	ENSP00000380310:G343A	G	-	2	0	ZNF676	22155331	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.112000	0.15479	0.192000	0.20272	0.195000	0.17529	GGG		PASS	0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	92	11	92	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934833	30934833	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:30934833G>T	ENST00000355537.3	+	2	511	c.364G>T	c.(364-366)Gac>Tac	p.D122Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	122					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.D122Y(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGACATCGAGGACGACGCCCG	0.642																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(364-366)GAC>TAC		zinc finger protein 536							67.0	53.0	57.0					19																	30934833		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934833G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.364G>T	19.37:g.30934833G>T	ENSP00000347730:p.Asp122Tyr					ZNF536_uc010edd.1_Missense_Mutation_p.D122Y	p.D122Y	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	502	+	Esophageal squamous(110;0.0834)		122					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.364G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297140	0.23650	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.8	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.19112	0.55	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.91635	0.936;0.999	T	0.04607	-1.0939	10	0.46703	T	0.11	-30.9597	14.8523	0.70306	0.0686:0.0:0.9314:0.0	.	122;122	A7E228;O15090	.;ZN536_HUMAN	Y	122	ENSP00000347730:D122Y	ENSP00000347730:D122Y	D	+	1	0	ZNF536	35626673	1.000000	0.71417	0.998000	0.56505	0.004000	0.04260	8.054000	0.89451	1.479000	0.48272	-0.251000	0.11542	GAC		PASS	0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	20	7	20	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31040279	31040279	+	Silent	SNP	G	G	A	rs573555056		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:31040279G>A	ENST00000355537.3	+	4	3900	c.3753G>A	c.(3751-3753)ccG>ccA	p.P1251P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1251					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P1251P(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCAAAGCCGGAGCGGGGGC	0.607																																						uc002nsu.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3751-3753)CCG>CCA		zinc finger protein 536							18.0	19.0	19.0					19																	31040279		2195	4291	6486	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040279G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3753G>A	19.37:g.31040279G>A						ZNF536_uc010edd.1_Silent_p.P1251P	p.P1251P	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3891	+	Esophageal squamous(110;0.0834)		1251					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3753G>A	CCDS32984.1																																																																																				PASS	0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	33	7	33	---	---	---	---
DMKN	93099	broad.mit.edu	37	19	36004032	36004032	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:36004032G>T	ENST00000339686.3	-	1	522	c.346C>A	c.(346-348)Cag>Aag	p.Q116K	DMKN_ENST00000451297.2_Missense_Mutation_p.Q116K|DMKN_ENST00000418261.1_Missense_Mutation_p.Q116K|DMKN_ENST00000440396.1_Missense_Mutation_p.Q116K|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.Q116K|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.Q116K|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.Q116K|DMKN_ENST00000447113.2_Missense_Mutation_p.Q116K|DMKN_ENST00000472252.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	116	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q116K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTTCTGCCTGTCTGCCAATC	0.617																																						uc002nzm.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(346-348)CAG>AAG		dermokine isoform 2 precursor							130.0	112.0	118.0					19																	36004032		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36004032G>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.346C>A	19.37:g.36004032G>T	ENSP00000342012:p.Gln116Lys					DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.Q116K|DMKN_uc002nzn.3_Missense_Mutation_p.Q116K|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.Q116K|DMKN_uc010eeb.2_Missense_Mutation_p.Q116K|DMKN_uc002oaa.3_Missense_Mutation_p.Q116K|DMKN_uc002oab.3_Missense_Mutation_p.Q116K	p.Q116K	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	529	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		116			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.346C>A	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187401	0.57909	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.19806	2.64;2.43;2.44;2.12;2.15;2.13;2.13;2.14	4.08	1.64	0.23874	.	0.239858	0.21768	N	0.069415	T	0.31513	0.0799	L	0.58101	1.795	0.21984	N	0.999439	B;P;P;B;B;B;B	0.43578	0.22;0.811;0.811;0.22;0.22;0.123;0.123	B;P;P;B;B;B;B	0.60789	0.101;0.879;0.879;0.101;0.07;0.039;0.039	T	0.07214	-1.0784	10	0.62326	D	0.03	-7.0554	2.2609	0.04067	0.1105:0.1956:0.4922:0.2017	.	116;116;116;116;116;116;116	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	K	116	ENSP00000342012:Q116K;ENSP00000405503:Q116K;ENSP00000391036:Q116K;ENSP00000394908:Q116K;ENSP00000415277:Q116K;ENSP00000414743:Q116K;ENSP00000388404:Q116K;ENSP00000409513:Q116K	ENSP00000342012:Q116K	Q	-	1	0	DMKN	40695872	0.801000	0.28930	0.995000	0.50966	0.040000	0.13550	0.435000	0.21510	1.009000	0.39289	0.491000	0.48974	CAG		PASS	0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		8	52	8	52	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGACCACGCAGTTCTTAC	0.617																																						uc002oal.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1099-1101)TGC>TGT		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						185.0	171.0	175.0					19																	36050049		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050049G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1101C>T	19.37:g.36050049G>A						ATP4A_uc010eee.1_5'Flank	p.C367C	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1130	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		367			Cytoplasmic (Potential).		O00738	Silent	SNP	ENST00000262623.3	37	c.1101C>T	CCDS12467.1																																																																																				PASS	0.617	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		24	205	24	205	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37129641	37129641	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:37129641G>C	ENST00000588268.1	-	6	1833	c.1606C>G	c.(1606-1608)Caa>Gaa	p.Q536E	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.Q513E	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	536					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.Q536E(1)|p.Q409E(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTTAAGTTGTAATCTATGA	0.428																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1606-1608)CAA>GAA		gonadotropin inducible transcription repressor							75.0	79.0	78.0					19																	37129641		2081	4234	6315	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129641G>C	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1606C>G	19.37:g.37129641G>C	ENSP00000467931:p.Gln536Glu					ZNF461_uc002oen.2_Missense_Mutation_p.Q505E|ZNF461_uc010xtj.1_Missense_Mutation_p.Q513E	p.Q536E	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1834	-	Esophageal squamous(110;0.198)		536			C2H2-type 12; degenerate.		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1606C>G	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	3.431	-0.116095	0.06881	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.14893	2.47	3.48	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.11789	0.175	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.34875	-0.9811	9	0.40728	T	0.16	.	1.8187	0.03105	0.2075:0.3927:0.2544:0.1454	.	513;458;536	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	E	536;513;409;230	ENSP00000353515:Q513E	ENSP00000353515:Q513E	Q	-	1	0	ZNF461	41821481	0.000000	0.05858	0.005000	0.12908	0.380000	0.30137	-1.858000	0.01659	-0.042000	0.13535	0.491000	0.48974	CAA		PASS	0.428	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		8	54	8	54	---	---	---	---
EID2	163126	broad.mit.edu	37	19	40030304	40030304	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:40030304T>A	ENST00000390658.2	-	1	566	c.416A>T	c.(415-417)tAt>tTt	p.Y139F		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2									p.Y139F(1)		large_intestine(2)|lung(1)|urinary_tract(1)	4	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;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GAGACGGAGATAGGGCAACGC	0.607																																						uc002oma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)TAT>TTT		CREBBP/EP300 inhibitor 2							80.0	90.0	87.0					19																	40030304		1983	4158	6141	SO:0001583	missense	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030304T>A	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.416A>T	19.37:g.40030304T>A	ENSP00000375073:p.Tyr139Phe						p.Y139F	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	535	-	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)		139						Missense_Mutation	SNP	ENST00000390658.2	37	c.416A>T	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	17.85	3.489622	0.64074	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.32753	1.44	3.88	3.88	0.44766	.	0.199557	0.25071	N	0.033361	T	0.25121	0.0610	L	0.35414	1.06	0.09310	N	1	P	0.46912	0.886	B	0.44133	0.442	T	0.09487	-1.0672	10	0.51188	T	0.08	.	9.4202	0.38546	0.0:0.0:0.0:1.0	.	139	Q8N6I1	EID2_HUMAN	F	139;90	ENSP00000375073:Y139F	ENSP00000375073:Y139F	Y	-	2	0	EID2	44722144	0.637000	0.27216	0.007000	0.13788	0.293000	0.27360	2.651000	0.46674	2.000000	0.58554	0.445000	0.29226	TAT		PASS	0.607	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232		21	134	21	134	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42219050	42219050	+	Silent	SNP	T	T	C	rs549229149		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:42219050T>C	ENST00000221992.6	+	3	699	c.585T>C	c.(583-585)aaT>aaC	p.N195N	CEACAM5_ENST00000398599.4_Silent_p.N195N|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.N195N	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	195	Ig-like 2.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.N195N(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGCTGTCCAATGGCAACAGGA	0.532																																						uc002ork.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(583-585)AAT>AAC		carcinoembryonic antigen-related cell adhesion							185.0	167.0	173.0					19																	42219050		2203	4298	6501	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219050T>C	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.585T>C	19.37:g.42219050T>C						CEACAM5_uc010ehz.1_Silent_p.N195N|CEACAM5_uc002orj.1_Silent_p.N195N|CEACAM5_uc002orl.2_Silent_p.N195N	p.N195N	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	3	706	+			195			Ig-like 2.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.585T>C	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	2.459	-0.324617	0.05350	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.94	-0.892	0.10570	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	3.1458	0.06471	0.2372:0.0:0.553:0.2098	.	.	.	.	R	192	.	.	W	+	1	0	CEACAM5	46910890	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.748000	0.04818	-0.393000	0.07739	0.164000	0.16699	TGG		PASS	0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		25	202	25	202	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43698611	43698611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:43698611G>C	ENST00000405312.3	-	5	1361	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	PSG4_ENST00000244295.9_Nonsense_Mutation_p.S282*|PSG4_ENST00000433626.2_Nonsense_Mutation_p.S282*	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	375	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.S282*(1)|p.S375*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.463																																						uc002ovy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1123-1125)TCA>TGA		pregnancy specific beta-1-glycoprotein 4 isoform							199.0	203.0	202.0					19																	43698611		2202	4295	6497	SO:0001587	stop_gained	5672				defense response|female pregnancy	extracellular region		g.chr19:43698611G>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1124C>G	19.37:g.43698611G>C	ENSP00000384770:p.Ser375*					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Nonsense_Mutation_p.S282*|PSG4_uc002ovz.2_Nonsense_Mutation_p.S282*	p.S375*	NM_002780	NP_002771	Q00888	PSG4_HUMAN			5	1226	-		Prostate(69;0.00682)	375			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Nonsense_Mutation	SNP	ENST00000405312.3	37	c.1124C>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.636699	0.67130	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	.	.	.	1.4	-2.79	0.05841	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	2.3849	0.04363	0.2053:0.0:0.295:0.4997	.	.	.	.	X	282;375;282	.	ENSP00000244295:S282X	S	-	2	0	PSG4	48390451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.896000	0.01605	-0.889000	0.03950	-0.537000	0.04273	TCA		PASS	0.463	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		39	271	39	271	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48619186	48619186	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:48619186G>A	ENST00000263274.7	-	27	3039	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.R843W|LIG1_ENST00000536218.1_Missense_Mutation_p.R806W|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	874					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.R874W(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CGAATAAACCGAGGGAAGCGA	0.652								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(2620-2622)CGG>TGG	NER	DNA ligase I	Bleomycin(DB00290)						46.0	42.0	43.0					19																	48619186		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48619186G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2620C>T	19.37:g.48619186G>A	ENSP00000263274:p.Arg874Trp					LIG1_uc010xze.1_Missense_Mutation_p.R567W|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R806W|LIG1_uc010xzg.1_Missense_Mutation_p.R843W	p.R874W	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	27	2740	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	874					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2620C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442739	0.83993	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.70164	-0.46;-0.46;-0.46	4.9	3.84	0.44239	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.061233	0.64402	D	0.000002	D	0.88691	0.6505	H	0.99074	4.42	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	0.91991	0.5603	10	0.87932	D	0	-9.1696	12.5114	0.56007	0.0:0.0:0.8317:0.1683	.	843;806;874	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	W	874;843;806	ENSP00000263274:R874W;ENSP00000442841:R843W;ENSP00000441531:R806W	ENSP00000263274:R874W	R	-	1	2	LIG1	53310998	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.336000	0.72954	1.163000	0.42636	0.655000	0.94253	CGG		PASS	0.652	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		3	31	3	31	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384206	53384206	+	Silent	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:53384206G>C	ENST00000595635.1	-	8	1674	c.1173C>G	c.(1171-1173)ggC>ggG	p.G391G	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.G391G|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	391					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.G391G(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TAAAAACCTTGCCACATTCAT	0.398																																						uc002qag.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)GGC>GGG		zinc finger protein 320							96.0	91.0	93.0					19																	53384206		2203	4300	6503	SO:0001819	synonymous_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384206G>C	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1173C>G	19.37:g.53384206G>C						ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.G337G|ZNF320_uc002qai.2_Silent_p.G391G	p.G391G	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1364	-			391			C2H2-type 9.		Q8NDR6	Silent	SNP	ENST00000595635.1	37	c.1173C>G	CCDS33095.1																																																																																				PASS	0.398	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		13	98	13	98	---	---	---	---
RPS9	6203	broad.mit.edu	37	19	54711428	54711428	+	Silent	SNP	C	C	T	rs142681896		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:54711428C>T	ENST00000302907.4	+	5	742	c.570C>T	c.(568-570)gaC>gaT	p.D190D	RPS9_ENST00000441429.1_3'UTR|RPS9_ENST00000402367.1_3'UTR|RPS9_ENST00000391751.3_3'UTR|RPS9_ENST00000391753.2_Silent_p.D190D|RPS9_ENST00000391752.1_Silent_p.D190D	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	190					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.D190D(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		CTGGAGACGACGAGGAGGAGG	0.602																																						uc002qdx.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(568-570)GAC>GAT		ribosomal protein S9		C		0,4404		0,0,2202	22.0	23.0	23.0		570	-7.2	0.7	19	dbSNP_134	23	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPS9	NM_001013.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		190/195	54711428	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6203				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity	g.chr19:54711428C>T	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.570C>T	19.37:g.54711428C>T						RPS9_uc002qdy.2_3'UTR|RPS9_uc002qdz.2_Silent_p.D190D|RPS9_uc002qea.2_Silent_p.D190D|RPS9_uc002qeb.2_3'UTR|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_3'UTR	p.D190D	NM_001013	NP_001004	P46781	RS9_HUMAN		GBM - Glioblastoma multiforme(193;0.18)	5	626	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		190					A9C4C1|Q4QRK7|Q9BVZ0	Silent	SNP	ENST00000302907.4	37	c.570C>T	CCDS12884.1																																																																																				PASS	0.602	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013		4	18	4	18	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54849409	54849409	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:54849409C>T	ENST00000291759.4	-	4	509	c.453G>A	c.(451-453)agG>agA	p.R151R	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	151	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.R151R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCAGAGTGAACCTGCCCAGTC	0.612																																						uc002qfj.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(451-453)AGG>AGA		leukocyte immunoglobulin-like receptor subfamily							65.0	61.0	63.0					19																	54849409		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54849409C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.453G>A	19.37:g.54849409C>T						LILRA4_uc002qfi.2_Silent_p.R85R	p.R151R	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	510	-	Ovarian(34;0.19)		151			Extracellular (Potential).|Ig-like C2-type 2.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.453G>A	CCDS12890.1																																																																																				PASS	0.612	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		8	59	8	59	---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133945	57133945	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr19:57133945G>T	ENST00000328070.6	+	3	1524	c.1290G>T	c.(1288-1290)cgG>cgT	p.R430R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	430					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.R430R(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCACCAGCGGATCCACACCG	0.637																																						uc002qnm.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1288-1290)CGG>CGT		zinc finger protein 71							74.0	63.0	66.0					19																	57133945		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133945G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1290G>T	19.37:g.57133945G>T							p.R430R	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1528	+			430			C2H2-type 11.		Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1290G>T	CCDS12947.1																																																																																				PASS	0.637	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		7	59	7	59	---	---	---	---
TRMT6	51605	broad.mit.edu	37	20	5922668	5922668	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr20:5922668C>G	ENST00000203001.2	-	8	1171	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	TRMT6_ENST00000453074.2_Missense_Mutation_p.Q177H|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	347					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.Q347H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTTGTCTCCTCTGTTTTTCCT	0.423																																						uc002wmh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1039-1041)CAG>CAC		tRNA methyltransferase 6							187.0	180.0	183.0					20																	5922668		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5922668C>G	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1041G>C	20.37:g.5922668C>G	ENSP00000203001:p.Gln347His					TRMT6_uc010zra.1_Missense_Mutation_p.Q177H|TRMT6_uc010gbn.1_3'UTR	p.Q347H	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			8	1163	-			347					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.1041G>C	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648366	0.67358	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.24151	1.88;1.87	6.17	-7.13	0.01532	.	0.051701	0.85682	D	0.000000	T	0.21427	0.0516	L	0.53249	1.67	0.42388	D	0.992512	P	0.46706	0.883	P	0.44811	0.461	T	0.49826	-0.8898	10	0.13470	T	0.59	-17.1889	15.6124	0.76737	0.0:0.3952:0.0:0.6048	.	347	Q9UJA5	TRM6_HUMAN	H	347;177	ENSP00000203001:Q347H;ENSP00000392070:Q177H	ENSP00000203001:Q347H	Q	-	3	2	TRMT6	5870668	0.874000	0.30092	0.650000	0.29550	0.992000	0.81027	-0.110000	0.10824	-1.463000	0.01904	-0.302000	0.09304	CAG		PASS	0.423	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			35	180	35	180	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21689949	21689949	+	Silent	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr20:21689949C>A	ENST00000398485.2	+	4	1203	c.1149C>A	c.(1147-1149)ggC>ggA	p.G383G	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.G359G	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	383					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G289G(1)|p.G383G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGCCCCGGGCGGCGGCTACC	0.761																																						uc002wsj.2																			2	Substitution - coding silent(2)	p.A383A(1)	lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(1147-1149)GGC>GGA		paired box 1							20.0	26.0	24.0					20																	21689949		2125	4187	6312	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689949C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1149C>A	20.37:g.21689949C>A						PAX1_uc010zsl.1_Silent_p.G383G|PAX1_uc010zsm.1_Silent_p.G359G	p.G383G	NM_006192	NP_006183	P15863	PAX1_HUMAN			4	1203	+			383					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.1149C>A	CCDS13146.2																																																																																				PASS	0.761	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			9	49	9	49	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024148	31024148	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr20:31024148C>A	ENST00000375687.4	+	13	4057	c.3633C>A	c.(3631-3633)gaC>gaA	p.D1211E	ASXL1_ENST00000306058.5_Missense_Mutation_p.D1206E	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1211					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D1211E(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAAGTTTTGACTCCCTCCATC	0.488			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3631-3633)GAC>GAA		additional sex combs like 1 isoform 1							80.0	82.0	82.0					20																	31024148		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024148C>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3633C>A	20.37:g.31024148C>A	ENSP00000364839:p.Asp1211Glu					ASXL1_uc010geb.2_Missense_Mutation_p.D1102E	p.D1211E	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	4059	+			1211					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3633C>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967173	0.74131	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14640	2.49;2.49	4.56	-0.951	0.10369	.	1.222460	0.05290	N	0.520953	T	0.09862	0.0242	L	0.36672	1.1	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.27608	0.081;0.081	T	0.36817	-0.9732	10	0.52906	T	0.07	-4.0734	8.5948	0.33710	0.0:0.5784:0.0:0.4216	.	1206;1211	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	E	1211;1211;1211;1132;1206	ENSP00000364839:D1211E;ENSP00000305119:D1206E	ENSP00000305119:D1206E	D	+	3	2	ASXL1	30487809	0.022000	0.18835	0.001000	0.08648	0.530000	0.34684	0.036000	0.13819	-0.115000	0.11915	0.561000	0.74099	GAC		PASS	0.488	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		3	103	3	103	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34099248	34099248	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr20:34099248C>T	ENST00000397527.1	+	35	7842	c.7122C>T	c.(7120-7122)atC>atT	p.I2374I	CEP250_ENST00000342580.4_Silent_p.I2318I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2374					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.I2374I(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGACTACATCACCCGCTCAG	0.597																																						uc002xcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(7120-7122)ATC>ATT		centrosomal protein 2							58.0	55.0	56.0					20																	34099248		2203	4300	6503	SO:0001819	synonymous_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34099248C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7122C>T	20.37:g.34099248C>T						CEP250_uc010zve.1_Silent_p.I1742I	p.I2374I	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		36	7793	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2374			Potential.		E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	ENST00000397527.1	37	c.7122C>T	CCDS13255.1																																																																																				PASS	0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		10	44	10	44	---	---	---	---
EDN3	1908	broad.mit.edu	37	20	57876615	57876615	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr20:57876615C>T	ENST00000337938.2	+	2	589	c.203C>T	c.(202-204)cCg>cTg	p.P68L	EDN3_ENST00000395654.3_Missense_Mutation_p.P68L|EDN3_ENST00000371028.2_Missense_Mutation_p.P68L|EDN3_ENST00000371025.3_Missense_Mutation_p.P68L|EDN3_ENST00000311585.7_Missense_Mutation_p.P68L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	68					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P68L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ACTGTGGCCCCGACAGCACTG	0.701																																						uc002yap.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(202-204)CCG>CTG		endothelin 3 isoform 1 preproprotein							37.0	40.0	39.0					20																	57876615		2202	4299	6501	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57876615C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.203C>T	20.37:g.57876615C>T	ENSP00000337128:p.Pro68Leu					EDN3_uc002yao.1_Missense_Mutation_p.P68L|EDN3_uc002yaq.2_Missense_Mutation_p.P68L|EDN3_uc002yar.2_Missense_Mutation_p.P68L|EDN3_uc002yas.2_Missense_Mutation_p.P68L	p.P68L	NM_000114	NP_000105	P14138	EDN3_HUMAN			2	572	+	all_lung(29;0.0115)		68					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.203C>T	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312497	0.23908	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.47	-2.93	0.05598	.	.	.	.	.	T	0.77942	0.4206	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.16396	0.0;0.002;0.017;0.007	B;B;B;B	0.08055	0.0;0.001;0.003;0.002	T	0.63395	-0.6647	9	0.42905	T	0.14	0.0833	6.3519	0.21381	0.0:0.4464:0.1237:0.43	.	68;68;68;68	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	L	68	ENSP00000337128:P68L;ENSP00000311854:P68L;ENSP00000360067:P68L;ENSP00000360064:P68L;ENSP00000379015:P68L	ENSP00000311854:P68L	P	+	2	0	EDN3	57310010	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.840000	0.04363	-0.167000	0.10871	0.462000	0.41574	CCG		PASS	0.701	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		11	53	11	53	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19716282	19716282	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:19716282G>T	ENST00000284885.3	-	11	1300	c.1267C>A	c.(1267-1269)Ctt>Att	p.L423I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	423	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.L423I(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGAAACTAAGGCAAGCTGGC	0.463																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1267-1269)CTT>ATT		enterokinase precursor							123.0	127.0	126.0					21																	19716282		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19716282G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1267C>A	21.37:g.19716282G>T	ENSP00000284885:p.Leu423Ile						p.L423I	NM_002772	NP_002763	P98073	ENTK_HUMAN			11	1298	-			423			Extracellular (Potential).|MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1267C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529389	0.64860	.	.	ENSG00000154646	ENST00000284885	T	0.03889	3.77	5.27	4.37	0.52481	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.086055	0.47852	D	0.000203	T	0.14874	0.0359	L	0.60012	1.86	0.45733	D	0.998632	D	0.76494	0.999	D	0.69824	0.966	T	0.00146	-1.1992	9	.	.	.	.	11.0105	0.47659	0.0862:0.0:0.9138:0.0	.	423	P98073	ENTK_HUMAN	I	423	ENSP00000284885:L423I	.	L	-	1	0	TMPRSS15	18638153	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	3.852000	0.55934	2.633000	0.89246	0.460000	0.39030	CTT		PASS	0.463	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		28	172	28	172	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33370927	33370927	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:33370927G>T	ENST00000270112.2	+	11	1935	c.1575G>T	c.(1573-1575)ccG>ccT	p.P525P		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	525					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P525P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CCGTGCCACCGCCCAGGACCC	0.572																																						uc002yph.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|skin(1)	2						c.(1573-1575)CCG>CCT		hormonally upregulated Neu-associated kinase							90.0	87.0	88.0					21																	33370927		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33370927G>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1575G>T	21.37:g.33370927G>T							p.P525P	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	1935	+			525						Silent	SNP	ENST00000270112.2	37	c.1575G>T	CCDS13610.1																																																																																				PASS	0.572	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		16	80	16	80	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37618828	37618828	+	Missense_Mutation	SNP	C	C	T	rs146690528		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:37618828C>T	ENST00000399151.3	+	19	4635	c.4550C>T	c.(4549-4551)cCg>cTg	p.P1517L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1517					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.P1517L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCATGCATCCGGCCTGGGTG	0.607																																						uc002yvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4549-4551)CCG>CTG		pad-1-like		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	66.0	63.0	64.0		4550	5.9	1.0	21	dbSNP_134	64	0,8600		0,0,4300	no	missense	DOPEY2	NM_005128.2	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1517/2299	37618828	1,13005	2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37618828C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4550C>T	21.37:g.37618828C>T	ENSP00000382104:p.Pro1517Leu					DOPEY2_uc011aeb.1_Missense_Mutation_p.P1466L|DOPEY2_uc002yvh.2_Missense_Mutation_p.P368L	p.P1517L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			19	4629	+			1517					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4550C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477372	0.84640	2.27E-4	0.0	ENSG00000142197	ENST00000399151	T	0.68479	-0.33	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	T	0.81895	-0.0723	10	0.41790	T	0.15	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	1517;1517	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	L	1517	ENSP00000382104:P1517L	ENSP00000382104:P1517L	P	+	2	0	DOPEY2	36540698	1.000000	0.71417	0.968000	0.41197	0.910000	0.53928	7.395000	0.79876	2.778000	0.95560	0.655000	0.94253	CCG		PASS	0.607	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		10	52	10	52	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38512875	38512875	+	Silent	SNP	C	C	T	rs139032014		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:38512875C>T	ENST00000399017.2	+	20	4421	c.1674C>T	c.(1672-1674)gcC>gcT	p.A558A	TTC3_ENST00000355666.1_Silent_p.A558A|TTC3_ENST00000354749.2_Silent_p.A558A|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Silent_p.A248A	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	558					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A558A(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TATCTGAAGCCGAAAACCAGT	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		17061	0.0		0.001	False		,,,				2504	0.0				Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(1672-1674)GCC>GCT		tetratricopeptide repeat domain 3		C	,	1,4405	2.1+/-5.4	0,1,2202	143.0	144.0	143.0		1674,1674	-1.6	1.0	21	dbSNP_134	143	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	558/2026,558/2026	38512875	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38512875C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1674C>T	21.37:g.38512875C>T						TTC3_uc011aee.1_Silent_p.A248A|TTC3_uc002ywa.2_Silent_p.A558A|TTC3_uc002ywb.2_Silent_p.A558A|TTC3_uc010gnf.2_Silent_p.A323A|TTC3_uc002ywc.2_Silent_p.A248A|TTC3_uc011aed.1_Silent_p.A248A|TTC3_uc010gne.1_Silent_p.A558A	p.A558A	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			20	1779	+		Myeloproliferative disorder(46;0.0412)	558			TPR 3.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.1674C>T	CCDS13651.1																																																																																				PASS	0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			20	187	20	187	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43161931	43161931	+	Silent	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:43161931C>A	ENST00000352483.2	-	9	1630	c.1566G>T	c.(1564-1566)ccG>ccT	p.P522P	RIPK4_ENST00000332512.3_Silent_p.P474P|RIPK4_ENST00000544709.1_Silent_p.P411P|RIPK4_ENST00000542057.1_Silent_p.P411P|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	522					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P474P(2)|p.P522P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCATGTGCAACGGGGTGGAGC	0.652																																						uc002yzn.1																			3	Substitution - coding silent(3)	p.P474P(1)	lung(2)|large_intestine(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1420-1422)CCG>CCT		ankyrin repeat domain 3							91.0	86.0	88.0					21																	43161931		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161931C>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1566G>T	21.37:g.43161931C>A							p.P474P	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1470	-			474					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1422G>T																																																																																					PASS	0.652	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		21	96	21	96	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46021214	46021214	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:46021214G>C	ENST00000380102.2	+	1	718	c.693G>C	c.(691-693)caG>caC	p.Q231H	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	231	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGCCAGCAGGCCTGCTGTG	0.657																																						uc002zfn.3																			0					0						c.(676-678)CAG>CAC		keratin associated protein 10-7							109.0	108.0	108.0					21																	46021214		2203	4300	6503	SO:0001583	missense	386675					keratin filament		g.chr21:46021214G>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.693G>C	21.37:g.46021214G>C	ENSP00000369445:p.Gln231His					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.Q226H	NM_198689	NP_941962	P60409	KR107_HUMAN			2	703	+			231			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.678G>C		.	.	.	.	.	.	.	.	.	.	N	3.519	-0.098260	0.07010	.	.	ENSG00000205441	ENST00000380102	T	0.01369	4.97	2.99	1.09	0.20402	.	.	.	.	.	T	0.04907	0.0132	M	0.91406	3.205	0.23430	N	0.997697	D	0.55605	0.972	P	0.49047	0.599	T	0.23332	-1.0191	9	0.87932	D	0	.	4.662	0.12646	0.4238:0.0:0.5762:0.0	.	226	P60409-2	.	H	231	ENSP00000369445:Q231H	ENSP00000369445:Q231H	Q	+	3	2	KRTAP10-7	44845642	0.000000	0.05858	0.694000	0.30210	0.132000	0.20833	-2.828000	0.00745	0.587000	0.29643	0.399000	0.26434	CAG		PASS	0.657	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		5	193	5	193	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47633740	47633740	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr21:47633740T>C	ENST00000397728.3	-	10	1099	c.1021A>G	c.(1021-1023)Acc>Gcc	p.T341A	LSS_ENST00000356396.4_Missense_Mutation_p.T341A|LSS_ENST00000464357.1_5'Flank|LSS_ENST00000522411.1_Missense_Mutation_p.T330A|LSS_ENST00000457828.2_Missense_Mutation_p.T261A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	341					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.T341A(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ATGTTGATGGTTTTCGAGATC	0.602																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)ACC>GCC		lanosterol synthase isoform 1							81.0	69.0	73.0					21																	47633740		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47633740T>C	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1021A>G	21.37:g.47633740T>C	ENSP00000380837:p.Thr341Ala					LSS_uc011afv.1_Missense_Mutation_p.T330A|LSS_uc002zil.2_Missense_Mutation_p.T341A|LSS_uc002zik.2_Missense_Mutation_p.T261A	p.T341A	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			10	1100	-	Breast(49;0.214)		341					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1021A>G	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881229	0.33255	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.11	3.97	0.46021	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (2);	0.096431	0.64402	D	0.000001	T	0.18130	0.0435	N	0.10782	0.045	0.42605	D	0.993296	P;P	0.40476	0.718;0.596	B;B	0.37451	0.25;0.127	T	0.12142	-1.0559	10	0.06236	T	0.91	.	7.7596	0.28944	0.0:0.1645:0.0:0.8355	.	330;341	E9PEI9;P48449	.;ERG7_HUMAN	A	341;261;341;330	ENSP00000348762:T341A;ENSP00000409191:T261A;ENSP00000380837:T341A;ENSP00000429133:T330A	ENSP00000348762:T341A	T	-	1	0	LSS	46458168	1.000000	0.71417	0.601000	0.28877	0.974000	0.67602	3.964000	0.56780	0.808000	0.34231	0.459000	0.35465	ACC		PASS	0.602	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			5	20	5	20	---	---	---	---
MAPK12	6300	broad.mit.edu	37	22	50694044	50694044	+	Splice_Site	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr22:50694044C>T	ENST00000215659.8	-	9	1086	c.771G>A	c.(769-771)gaG>gaA	p.E257E	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Splice_Site_p.E167E	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.E247E(1)|p.E257E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACCCCTTACCTCATCGCTCT	0.622																																						uc003bkm.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(769-771)GAG>GAA		mitogen-activated protein kinase 12							68.0	75.0	72.0					22																	50694044		2203	4300	6503	SO:0001630	splice_region_variant	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50694044C>T	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.771+1G>A	22.37:g.50694044C>T						MAPK12_uc003bkn.2_Silent_p.E76E|MAPK12_uc003bko.2_Silent_p.E167E|MAPK12_uc003bkl.1_Silent_p.E247E|MAPK12_uc003bkp.2_Silent_p.E42E|MAPK12_uc003bkq.2_Silent_p.E76E	p.E257E	NM_002969	NP_002960	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	922	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	257			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Silent	SNP	ENST00000215659.8	37	c.771G>A	CCDS14089.1																																																																																				PASS	0.622	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969	Silent	14	105	14	105	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50885628	50885628	+	Silent	SNP	G	G	A	rs146489206	byFrequency	TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chr22:50885628G>A	ENST00000390679.3	-	40	5731	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D	SBF1_ENST00000348911.6_Silent_p.D1850D|SBF1_ENST00000380817.3_Silent_p.D1875D			O95248	MTMR5_HUMAN	SET binding factor 1	1849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D1849D(1)|p.D1875D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCGAGGGCACGTCCTGGGCAC	0.677													G|||	8	0.00159744	0.0008	0.0	5008	,	,		11894	0.0		0.003	False		,,,				2504	0.0041					uc003blh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(5623-5625)GAC>GAT		SET binding factor 1		G		1,4173		0,1,2086	34.0	42.0	39.0		5625	-4.8	1.0	22	dbSNP_134	39	34,8326		0,34,4146	no	coding-synonymous	SBF1	NM_002972.2		0,35,6232	AA,AG,GG		0.4067,0.024,0.2792		1875/1894	50885628	35,12499	2087	4180	6267	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50885628G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5547C>T	22.37:g.50885628G>A						SBF1_uc003ble.2_Silent_p.D339D|SBF1_uc003blf.2_Silent_p.D351D|SBF1_uc011arx.1_Silent_p.D1513D	p.D1875D	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	41	5820	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1849			PH.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.5625C>T		3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	9.452	1.090802	0.20471	2.4E-4	0.004067	ENSG00000100241	ENST00000418590	.	.	.	3.51	-4.79	0.03200	.	.	.	.	.	T	0.54175	0.1842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55604	-0.8115	4	.	.	.	.	11.1517	0.48462	0.4642:0.0:0.5358:0.0	.	.	.	.	C	397	.	.	R	-	1	0	SBF1	49232494	0.212000	0.23540	0.980000	0.43619	0.984000	0.73092	-0.054000	0.11826	-0.820000	0.04318	-0.672000	0.03802	CGT		PASS	0.677	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	39	10	39	---	---	---	---
NR0B1	190	broad.mit.edu	37	X	30327353	30327353	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:30327353C>A	ENST00000378970.4	-	1	362	c.128G>T	c.(127-129)tGc>tTc	p.C43F	NR0B1_ENST00000453287.1_Missense_Mutation_p.C43F|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	43	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.C43F(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CTCATCGCCGCACGAACAGCC	0.662																																						uc004dcf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(127-129)TGC>TTC		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						12.0	12.0	12.0					X																	30327353		2181	4257	6438	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327353C>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.128G>T	X.37:g.30327353C>A	ENSP00000368253:p.Cys43Phe						p.C43F	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	143	-			43			4 X 67 AA tandem repeats.|1.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.128G>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345343	0.41498	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.98512	-4.11;-4.97	4.42	3.48	0.39840	.	0.000000	0.48286	D	0.000190	D	0.97920	0.9316	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	D	0.67382	0.951	D	0.93056	0.6470	10	0.72032	D	0.01	-15.7863	8.5811	0.33630	0.0:0.7694:0.2306:0.0	.	43	P51843	NR0B1_HUMAN	F	43	ENSP00000368253:C43F;ENSP00000396403:C43F	ENSP00000368253:C43F	C	-	2	0	NR0B1	30237274	0.317000	0.24589	0.131000	0.22000	0.854000	0.48673	4.094000	0.57721	2.167000	0.68274	0.513000	0.50165	TGC		PASS	0.662	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		4	23	4	23	---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40450618	40450618	+	Splice_Site	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:40450618G>T	ENST00000378438.4	+	3	458		c.e3+1		ATP6AP2_ENST00000486558.1_Splice_Site|ATP6AP2_ENST00000535539.1_Splice_Site|ATP6AP2_ENST00000544975.1_Splice_Site|ATP6AP2_ENST00000535777.1_Splice_Site	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2						angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)	p.?(2)		endometrium(1)|large_intestine(1)|lung(2)	4						TTTGGAGAATGTGAGtattta	0.403																																						uc004det.2																			2	Unknown(2)		lung(2)		0						c.e3+1		ATPase, H+ transporting, lysosomal accessory							56.0	46.0	49.0					X																	40450618		2203	4300	6503	SO:0001630	splice_region_variant	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40450618G>T	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.300+1G>T	X.37:g.40450618G>T						ATP6AP2_uc010nhc.2_Splice_Site|ATP6AP2_uc011mkl.1_Splice_Site_p.N24_splice|ATP6AP2_uc011mkm.1_Splice_Site_p.N100_splice|ATP6AP2_uc011mkn.1_Splice_Site_p.N100_splice	p.N100_splice	NM_005765	NP_005756	O75787	RENR_HUMAN			3	402	+								B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Splice_Site	SNP	ENST00000378438.4	37	c.300_splice	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264627	0.80358	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975;ENST00000535777;ENST00000538655;ENST00000447485;ENST00000423649	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8207	0.88649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6AP2	40335562	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.347000	0.97059	2.139000	0.66308	0.600000	0.82982	.		PASS	0.403	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765	Intron	8	36	8	36	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48047124	48047124	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:48047124C>A	ENST00000376923.1	-	6	509	c.510G>T	c.(508-510)gaG>gaT	p.E170D	SSX5_ENST00000347757.1_Missense_Mutation_p.E170D|SSX5_ENST00000311798.1_Missense_Mutation_p.E211D			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.E211D(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GTTGCTTTCTCTCACGCACTC	0.502																																						uc004dja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAG>GAT		synovial sarcoma, X breakpoint 5 isoform b							326.0	279.0	295.0					X																	48047124		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48047124C>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.510G>T	X.37:g.48047124C>A	ENSP00000366122:p.Glu170Asp					SSX5_uc004diz.1_Missense_Mutation_p.E211D	p.E170D	NM_175723	NP_783729	O60225	SSX5_HUMAN			7	563	-			170					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.510G>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	11.94	1.789881	0.31685	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.56444	1.79;1.62;1.62;0.46	1.56	-2.4	0.06583	SSXRD motif (1);	0.455677	0.18635	N	0.135463	T	0.60753	0.2293	L	0.61218	1.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54443	-0.8293	10	0.87932	D	0	.	5.305	0.15799	0.0:0.4301:0.0:0.5699	.	170;211	O60225;O60225-2	SSX5_HUMAN;.	D	211;170;170;110	ENSP00000312415:E211D;ENSP00000366122:E170D;ENSP00000290558:E170D;ENSP00000385051:E110D	ENSP00000312415:E211D	E	-	3	2	SSX5	47932068	0.067000	0.21026	0.001000	0.08648	0.091000	0.18340	0.126000	0.15769	-0.834000	0.04239	0.181000	0.17075	GAG		PASS	0.502	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		74	440	74	440	---	---	---	---
OTUD5	55593	broad.mit.edu	37	X	48801472	48801472	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:48801472C>T	ENST00000156084.4	-	2	727	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Missense_Mutation_p.A223T|OTUD5_ENST00000396743.3_Missense_Mutation_p.A223T|OTUD5_ENST00000428668.2_Missense_Mutation_p.A6T	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	223	Cys-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)	p.A223T(1)|p.A199T(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AAGAGACAGGCGCCATCCTCC	0.557																																						uc004dlu.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(667-669)GCC>ACC		OTU domain containing 5 isoform a							92.0	61.0	71.0					X																	48801472		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48801472C>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.667G>A	X.37:g.48801472C>T	ENSP00000156084:p.Ala223Thr					OTUD5_uc004dlt.3_Missense_Mutation_p.A223T|OTUD5_uc004dlv.2_Missense_Mutation_p.A223T|OTUD5_uc011mmp.1_Missense_Mutation_p.A6T	p.A223T	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			2	728	-			223			OTU.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.667G>A	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077777	0.76528	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.66	4.8	0.61643	Ovarian tumour, otubain (2);	0.065947	0.64402	D	0.000018	T	0.60805	0.2297	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	T	0.62973	-0.6740	10	0.59425	D	0.04	-25.8066	13.1834	0.59668	0.0:0.8441:0.1559:0.0	.	6;223;223	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	T	223;199;96;223;223;6	ENSP00000379969:A223T;ENSP00000390767:A96T;ENSP00000156084:A223T;ENSP00000365671:A223T;ENSP00000401629:A6T	ENSP00000156084:A223T	A	-	1	0	OTUD5	48686416	1.000000	0.71417	0.973000	0.42090	0.644000	0.38419	6.334000	0.72944	1.268000	0.44264	-0.217000	0.12591	GCC		PASS	0.557	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		4	27	4	27	---	---	---	---
KCND1	3750	broad.mit.edu	37	X	48825896	48825896	+	Silent	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:48825896C>A	ENST00000218176.3	-	1	2080	c.783G>T	c.(781-783)cgG>cgT	p.R261R	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	261					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)	p.R261R(1)		endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TCATGACACTCCGCAGGAAGC	0.577																																						uc004dlx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(781-783)CGG>CGT		potassium voltage-gated channel, Shal-related							38.0	34.0	35.0					X																	48825896		2202	4300	6502	SO:0001819	synonymous_variant	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48825896C>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.783G>T	X.37:g.48825896C>A						KCND1_uc004dlw.1_5'Flank	p.R261R	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	2356	-			261			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Silent	SNP	ENST00000218176.3	37	c.783G>T	CCDS14314.1																																																																																				PASS	0.577	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		3	28	3	28	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53611204	53611204	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:53611204C>A	ENST00000342160.3	-	40	5560	c.5103G>T	c.(5101-5103)gaG>gaT	p.E1701D	HUWE1_ENST00000262854.6_Missense_Mutation_p.E1701D|HUWE1_ENST00000218328.8_3'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1701					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E1701D(1)|p.E1564D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGCGTCTTCTCTAGTTCCT	0.413																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(5101-5103)GAG>GAT		HECT, UBA and WWE domain containing 1							280.0	221.0	241.0					X																	53611204		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53611204C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5103G>T	X.37:g.53611204C>A	ENSP00000340648:p.Glu1701Asp					HUWE1_uc004dsn.2_Missense_Mutation_p.E526D	p.E1701D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			41	5505	-			1701					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5103G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.345740|1.345740	0.24426|0.24426	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37411|.	1.2;1.2|.	5.6|5.6	1.65|1.65	0.23941|0.23941	.|.	0.195238|0.195238	0.42548|0.42548	D|D	0.000693|0.000693	T|.	0.40815|.	0.1132|.	L|L	0.31065|0.31065	0.9|0.9	0.38557|0.38557	D|D	0.949603|0.949603	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.21965|.	-1.0230|.	10|.	0.16896|0.34782	T|T	0.51|0.22	.|.	5.7262|5.7262	0.18015|0.18015	0.0:0.5369:0.1357:0.3273|0.0:0.5369:0.1357:0.3273	.|.	1701;1701|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|X	1701|735	ENSP00000340648:E1701D;ENSP00000262854:E1701D|.	ENSP00000262854:E1701D|ENSP00000401253:E735X	E|E	-|-	3|1	2|0	HUWE1|HUWE1	53627929|53627929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	0.795000|0.795000	0.26972|0.26972	0.534000|0.534000	0.28695|0.28695	0.600000|0.600000	0.82982|0.82982	GAG|GAA		PASS	0.413	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		19	145	19	145	---	---	---	---
TRO	7216	broad.mit.edu	37	X	54948716	54948716	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:54948716C>G	ENST00000173898.7	+	2	149	c.37C>G	c.(37-39)Cta>Gta	p.L13V	TRO_ENST00000484031.1_3'UTR|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.L13V|TRO_ENST00000399736.1_Missense_Mutation_p.L13V|TRO_ENST00000375022.4_Missense_Mutation_p.L13V|TRO_ENST00000375041.2_Missense_Mutation_p.L13V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	13					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L13V(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TAGGGTGCCTCTATTTCAGGT	0.507																																						uc004dtq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(37-39)CTA>GTA		trophinin isoform 5							128.0	115.0	119.0					X																	54948716		1972	4136	6108	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54948716C>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.37C>G	X.37:g.54948716C>G	ENSP00000173898:p.Leu13Val					TRO_uc011moj.1_Intron|TRO_uc004dts.2_Missense_Mutation_p.L13V|TRO_uc004dtr.2_Missense_Mutation_p.L13V|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.L13V|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Missense_Mutation_p.L13V|TRO_uc004dtx.2_5'Flank	p.L13V	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			2	144	+			13					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.37C>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	2.593	-0.294796	0.05568	.	.	ENSG00000067445	ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000431115;ENST00000375041;ENST00000440759;ENST00000416704	T;T;T;T;T;T;T;T;T	0.49139	0.79;3.9;3.64;3.64;2.65;1.75;3.65;0.79;0.79	3.15	-6.3	0.02007	.	.	.	.	.	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.13282	-1.0515	9	0.21014	T	0.42	.	1.5369	0.02547	0.2781:0.1442:0.3822:0.1954	.	13;13;13;13	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	13	ENSP00000404645:L13V;ENSP00000173898:L13V;ENSP00000318278:L13V;ENSP00000364162:L13V;ENSP00000382641:L13V;ENSP00000407996:L13V;ENSP00000364181:L13V;ENSP00000406574:L13V;ENSP00000404767:L13V	ENSP00000173898:L13V	L	+	1	2	TRO	54965441	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.338000	0.07842	-2.424000	0.00561	-1.196000	0.01674	CTA		PASS	0.507	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		10	29	10	29	---	---	---	---
EFNB1	1947	broad.mit.edu	37	X	68060180	68060180	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:68060180G>A	ENST00000204961.4	+	5	1504	c.724G>A	c.(724-726)Gcg>Acg	p.A242T		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	242					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)	p.A242T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGCATTGTTCGCGGCTGTCGG	0.582																																						uc004dxd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)GCG>ACG		ephrin-B1 precursor							56.0	57.0	57.0					X																	68060180		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060180G>A	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.724G>A	X.37:g.68060180G>A	ENSP00000204961:p.Ala242Thr					EFNB1_uc004dxe.2_Missense_Mutation_p.A242T	p.A242T	NM_004429	NP_004420	P98172	EFNB1_HUMAN			5	1504	+			242			Helical; (Potential).		D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.724G>A	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836437	0.32421	.	.	ENSG00000090776	ENST00000204961	D	0.91577	-2.87	5.21	4.35	0.52113	.	0.107031	0.64402	D	0.000006	D	0.86674	0.5989	M	0.66297	2.02	0.41058	D	0.98535	P	0.49635	0.926	B	0.35114	0.196	D	0.86640	0.1891	10	0.72032	D	0.01	-17.6227	10.4492	0.44511	0.0959:0.0:0.9041:0.0	.	242	P98172	EFNB1_HUMAN	T	242	ENSP00000204961:A242T	ENSP00000204961:A242T	A	+	1	0	EFNB1	67976905	0.975000	0.34042	0.568000	0.28447	0.486000	0.33341	3.408000	0.52651	1.188000	0.43014	0.529000	0.55759	GCG		PASS	0.582	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		5	44	5	44	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433953	72433953	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:72433953C>T	ENST00000373517.3	-	1	731	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	126					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E126K(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AATTTGGATTCTAAATTGGCC	0.373																																						uc004ebi.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(376-378)GAA>AAA		nucleosome assembly protein 1-like 2							121.0	117.0	118.0					X																	72433953		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433953C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.376G>A	X.37:g.72433953C>T	ENSP00000362616:p.Glu126Lys					NAP1L2_uc011mqj.1_5'UTR	p.E126K	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	732	-	Renal(35;0.156)		126					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.376G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.220769	0.79464	.	.	ENSG00000186462	ENST00000373517	T	0.52754	0.65	3.31	3.31	0.37934	.	0.000000	0.85682	U	0.000000	T	0.70448	0.3225	M	0.88310	2.945	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.76836	-0.2812	10	0.87932	D	0	-0.3596	11.7224	0.51689	0.0:1.0:0.0:0.0	.	126	Q9ULW6	NP1L2_HUMAN	K	126	ENSP00000362616:E126K	ENSP00000362616:E126K	E	-	1	0	NAP1L2	72350678	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.813000	0.55636	1.903000	0.55091	0.600000	0.82982	GAA		PASS	0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		13	132	13	132	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73960441	73960441	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:73960441G>T	ENST00000055682.6	-	3	4562	c.3951C>A	c.(3949-3951)tcC>tcA	p.S1317S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1317					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.S1317S(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACAAGATATAGGAAGGCTCCT	0.537																																						uc004eby.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3949-3951)TCC>TCA		hypothetical protein LOC340533							118.0	110.0	113.0					X																	73960441		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960441G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3951C>A	X.37:g.73960441G>T							p.S1317S	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4568	-			1317					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.3951C>A	CCDS35337.1																																																																																				PASS	0.537	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		31	130	31	130	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74649009	74649009	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:74649009G>T	ENST00000373367.3	-	7	737	c.507C>A	c.(505-507)tcC>tcA	p.S169S	ZDHHC15_ENST00000373361.3_Intron|ZDHHC15_ENST00000541184.1_Silent_p.S160S	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	169					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S169S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ATTTGTAGTTGGAAAATCCAA	0.353																																						uc004ecg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(505-507)TCC>TCA		zinc finger, DHHC-type containing 15 isoform 1							88.0	85.0	86.0					X																	74649009		2203	4300	6503	SO:0001819	synonymous_variant	158866					integral to membrane	zinc ion binding	g.chrX:74649009G>T	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.507C>A	X.37:g.74649009G>T						ZDHHC15_uc004ech.2_Silent_p.S160S|ZDHHC15_uc011mqo.1_Intron	p.S169S	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			7	985	-			169			DHHC-type.		B3KVG7|Q3SY30|Q6UWH3	Silent	SNP	ENST00000373367.3	37	c.507C>A	CCDS14430.1																																																																																				PASS	0.353	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		6	48	6	48	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83352800	83352800	+	Silent	SNP	A	A	G			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:83352800A>G	ENST00000262752.2	-	19	1840	c.1833T>C	c.(1831-1833)ctT>ctC	p.L611L	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.L611L	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	611	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L611L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGTGTAAAAAAGGACTCCTA	0.308																																						uc004eej.1																			1	Substitution - coding silent(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1831-1833)CTT>CTC		ribosomal protein S6 kinase polypeptide 6							129.0	125.0	126.0					X																	83352800		2203	4294	6497	SO:0001819	synonymous_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83352800A>G	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1833T>C	X.37:g.83352800A>G						RPS6KA6_uc011mqt.1_Silent_p.L611L|RPS6KA6_uc011mqu.1_Silent_p.L508L	p.L611L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			19	1910	-			611			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Silent	SNP	ENST00000262752.2	37	c.1833T>C	CCDS14451.1																																																																																				PASS	0.308	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		43	257	43	257	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132779	91132779	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:91132779A>T	ENST00000373094.1	+	2	2385	c.1540A>T	c.(1540-1542)Agc>Tgc	p.S514C	PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514C|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S514C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S514C(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACCTGAATTCAGCCTGGATTG	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1540-1542)AGC>TGC		protocadherin 11 X-linked isoform c							75.0	63.0	67.0					X																	91132779		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132779A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1540A>T	X.37:g.91132779A>T	ENSP00000362186:p.Ser514Cys					PCDH11X_uc004efl.1_Missense_Mutation_p.S514C|PCDH11X_uc004efo.1_Missense_Mutation_p.S514C|PCDH11X_uc010nmv.1_Missense_Mutation_p.S514C|PCDH11X_uc004efm.1_Missense_Mutation_p.S514C|PCDH11X_uc004efn.1_Missense_Mutation_p.S514C|PCDH11X_uc004efh.1_Missense_Mutation_p.S514C|PCDH11X_uc004efj.1_Missense_Mutation_p.S514C	p.S514C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2385	+			514			Cadherin 5.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1540A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	7.605	0.673533	0.14776	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.38	2.95	0.34219	Cadherin (4);Cadherin-like (1);	0.193732	0.52532	D	0.000070	T	0.69949	0.3168	M	0.89658	3.05	0.26021	N	0.981865	P;P;D;D;D;D;P;P	0.59767	0.949;0.878;0.983;0.983;0.983;0.986;0.949;0.879	P;P;P;P;P;P;P;P	0.58391	0.669;0.749;0.749;0.749;0.749;0.838;0.669;0.669	T	0.64719	-0.6341	10	0.72032	D	0.01	.	8.7036	0.34340	0.8407:0.0:0.1593:0.0	.	514;514;514;514;514;514;514;514	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	C	514	ENSP00000378746:S514C;ENSP00000362186:S514C;ENSP00000362189:S514C;ENSP00000355040:S514C;ENSP00000362180:S514C;ENSP00000423762:S514C;ENSP00000355105:S514C;ENSP00000384758:S514C;ENSP00000298274:S514C	ENSP00000298274:S514C	S	+	1	0	PCDH11X	91019435	1.000000	0.71417	0.561000	0.28357	0.007000	0.05969	3.248000	0.51430	0.192000	0.20272	-0.435000	0.05868	AGC		PASS	0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	59	8	59	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662031	99662031	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:99662031T>A	ENST00000373034.4	-	1	3240	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	PCDH19_ENST00000255531.7_Missense_Mutation_p.N522I|PCDH19_ENST00000420881.2_Missense_Mutation_p.N522I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N23I(1)|p.N522I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGCTCGTGGTTAAAGGATCG	0.582																																						uc010nmz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1564-1566)AAC>ATC		protocadherin 19 isoform b							108.0	109.0	109.0					X																	99662031		2173	4258	6431	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662031T>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1565A>T	X.37:g.99662031T>A	ENSP00000362125:p.Asn522Ile					PCDH19_uc004efw.3_Missense_Mutation_p.N522I|PCDH19_uc004efx.3_Missense_Mutation_p.N522I	p.N522I	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3241	-			522			Cadherin 5.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1565A>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519486	0.64634	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53857	0.6;0.6;0.6	5.81	5.81	0.92471	Cadherin (5);Cadherin-like (1);	0.045544	0.85682	D	0.000000	T	0.68970	0.3059	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.994	D;D;D	0.72338	0.977;0.956;0.974	T	0.72127	-0.4384	10	0.87932	D	0	.	15.0829	0.72127	0.0:0.0:0.0:1.0	.	522;522;522	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	I	522	ENSP00000400327:N522I;ENSP00000362125:N522I;ENSP00000255531:N522I	ENSP00000255531:N522I	N	-	2	0	PCDH19	99548687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.944000	0.56390	0.417000	0.27973	AAC		PASS	0.582	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		19	159	19	159	---	---	---	---
RAB40AL	282808	broad.mit.edu	37	X	102192749	102192749	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:102192749C>T	ENST00000218249.5	+	1	550	c.503C>T	c.(502-504)aCg>aTg	p.T168M	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	168					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T168M(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GAGTCTTTCACGGAGCTGGCC	0.612																																						uc004ejs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(502-504)ACG>ATG		RAB40A, member RAS oncogene family-like							40.0	36.0	38.0					X																	102192749		2203	4300	6503	SO:0001583	missense	282808				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	g.chrX:102192749C>T	BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"""Ras like GTPase"""	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.503C>T	X.37:g.102192749C>T	ENSP00000218249:p.Thr168Met						p.T168M	NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN			1	550	+			168					Q495H3	Missense_Mutation	SNP	ENST00000218249.5	37	c.503C>T	CCDS35353.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.425171	0.25639	.	.	ENSG00000102128	ENST00000218249	T	0.80123	-1.34	0.819	0.819	0.18785	.	0.114839	0.31709	N	0.007193	T	0.71702	0.3371	L	0.42245	1.32	0.54753	D	0.999985	P	0.50819	0.939	P	0.46940	0.532	T	0.65059	-0.6260	10	0.20046	T	0.44	.	7.2459	0.26121	0.0:0.9999:0.0:1.0E-4	.	168	P0C0E4	RB40L_HUMAN	M	168	ENSP00000218249:T168M	ENSP00000218249:T168M	T	+	2	0	RAB40AL	102079405	1.000000	0.71417	0.400000	0.26346	0.119000	0.20118	5.305000	0.65750	0.682000	0.31407	0.462000	0.41574	ACG		PASS	0.612	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057679.1	NM_001031834		8	39	8	39	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105187985	105187985	+	Silent	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:105187985C>T	ENST00000243300.9	+	24	4314	c.4011C>T	c.(4009-4011)caC>caT	p.H1337H	NRK_ENST00000428173.2_Silent_p.H1338H	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1337	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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.H1338H(1)|p.H1337H(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						CATCAATTCACCTTTATGCAT	0.318										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(4009-4011)CAC>CAT		Nik related kinase							120.0	99.0	105.0					X																	105187985		1856	4090	5946	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105187985C>T	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.4011C>T	X.37:g.105187985C>T		HNSCC(51;0.14)					p.H1337H	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			24	4314	+			1337			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.4011C>T																																																																																					PASS	0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		3	21	3	21	---	---	---	---
SOWAHD	347454	broad.mit.edu	37	X	118893503	118893503	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:118893503G>T	ENST00000343905.3	+	1	928	c.873G>T	c.(871-873)aaG>aaT	p.K291N		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	291								p.K367N(1)									CCAAGGCGAAGGACACCGCGG	0.647																																						uc010nql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(871-873)AAG>AAT		ankyrin repeat domain 58							13.0	17.0	16.0					X																	118893503		2117	4157	6274	SO:0001583	missense	347454							g.chrX:118893503G>T		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.873G>T	X.37:g.118893503G>T	ENSP00000340975:p.Lys291Asn						p.K291N	NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN			1	928	+			291						Missense_Mutation	SNP	ENST00000343905.3	37	c.873G>T	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545180	0.65198	.	.	ENSG00000187808	ENST00000343905	T	0.15017	2.46	4.37	1.17	0.20885	.	.	.	.	.	T	0.13543	0.0328	L	0.51422	1.61	0.09310	N	1	B	0.29270	0.24	B	0.23419	0.046	T	0.24977	-1.0145	9	0.32370	T	0.25	-10.3687	6.0319	0.19684	0.1995:0.1488:0.6517:0.0	.	291	A6NJG2	ANR58_HUMAN	N	291	ENSP00000340975:K291N	ENSP00000340975:K291N	K	+	3	2	ANKRD58	118777531	0.001000	0.12720	0.008000	0.14137	0.129000	0.20672	0.232000	0.17891	-0.070000	0.12908	0.436000	0.28706	AAG		PASS	0.647	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		7	40	7	40	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129055540	129055540	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:129055540C>A	ENST00000394422.3	+	11	1353	c.1325C>A	c.(1324-1326)cCa>cAa	p.P442Q	UTP14A_ENST00000371042.3_Missense_Mutation_p.P274Q|UTP14A_ENST00000371051.5_Missense_Mutation_p.P388Q|UTP14A_ENST00000498179.1_3'UTR|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.P390Q	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	442					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P442Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GATGCTGAGCCAGCAGGCAGT	0.438																																						uc004euz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1324-1326)CCA>CAA		UTP14, U3 small nucleolar ribonucleoprotein,							38.0	37.0	38.0					X																	129055540		2199	4296	6495	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129055540C>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1325C>A	X.37:g.129055540C>A	ENSP00000377944:p.Pro442Gln					UTP14A_uc011mup.1_Missense_Mutation_p.P390Q|UTP14A_uc011muq.1_Missense_Mutation_p.P388Q|UTP14A_uc004eva.1_Missense_Mutation_p.P148Q	p.P442Q	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			11	1353	+			442					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1325C>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145704	0.37923	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.17	3.12	0.35913	.	0.980252	0.08373	N	0.955761	T	0.35008	0.0917	M	0.85197	2.74	0.09310	N	1	D;D;D;D	0.60160	0.984;0.987;0.987;0.977	P;P;P;P	0.62298	0.839;0.9;0.9;0.9	T	0.32903	-0.9889	10	0.13108	T	0.6	-0.1657	2.766	0.05320	0.2942:0.4247:0.0:0.2811	.	388;390;390;442	F8WD00;E9PEL7;B4DQ08;Q9BVJ6	.;.;.;UT14A_HUMAN	Q	390;442;388;274;274	ENSP00000388669:P390Q;ENSP00000377944:P442Q;ENSP00000360090:P388Q;ENSP00000413187:P274Q;ENSP00000360081:P274Q	ENSP00000360081:P274Q	P	+	2	0	UTP14A	128883221	0.000000	0.05858	0.007000	0.13788	0.616000	0.37450	0.124000	0.15728	1.088000	0.41272	0.422000	0.28245	CCA		PASS	0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		4	58	4	58	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136648937	136648937	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:136648937C>A	ENST00000287538.5	+	1	637	c.87C>A	c.(85-87)aaC>aaA	p.N29K	RP1-137H15.2_ENST00000456631.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.N29K|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	29					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.N29_R30>KS(1)|p.N29K(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)					AGATGCCCAACCGTGAGCCGG	0.726																																						uc004fak.2																			2	Substitution - Missense(1)|Complex - compound substitution(1)		lung(2)	ovary(2)|breast(1)	3						c.(85-87)AAC>AAA		zinc finger protein of the cerebellum 3							9.0	9.0	9.0					X																	136648937		2175	4257	6432	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:136648937C>A	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.87C>A	X.37:g.136648937C>A	ENSP00000287538:p.Asn29Lys						p.N29K	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	592	+	Acute lymphoblastic leukemia(192;0.000127)		29					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.87C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.051857	0.36181	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.10668	2.85;2.91	4.12	2.25	0.28309	.	0.101437	0.64402	N	0.000005	T	0.07458	0.0188	L	0.36672	1.1	0.44485	D	0.997425	B	0.27351	0.176	B	0.19148	0.024	T	0.24512	-1.0158	10	0.46703	T	0.11	.	6.1963	0.20552	0.1846:0.7065:0.0:0.1088	.	29	O60481	ZIC3_HUMAN	K	29	ENSP00000287538:N29K;ENSP00000359638:N29K	ENSP00000287538:N29K	N	+	3	2	ZIC3	136476603	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.179000	0.42528	0.755000	0.32990	0.525000	0.51046	AAC		PASS	0.726	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	12	4	12	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718580	142718580	+	Silent	SNP	G	G	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:142718580G>A	ENST00000381779.4	-	2	570	c.345C>T	c.(343-345)aaC>aaT	p.N115N	SLITRK4_ENST00000356928.1_Silent_p.N115N|SLITRK4_ENST00000338017.4_Silent_p.N115N	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	115						integral component of membrane (GO:0016021)		p.N115K(1)|p.N115N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCATTGTTGTTCAAGTGCA	0.423																																						uc004fbx.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(343-345)AAC>AAT		slit and trk like 4 protein precursor							71.0	68.0	69.0					X																	142718580		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718580G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.345C>T	X.37:g.142718580G>A						SLITRK4_uc004fby.2_Silent_p.N115N	p.N115N	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	721	-	Acute lymphoblastic leukemia(192;6.56e-05)		115			Extracellular (Potential).|LRR 3.		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.345C>T	CCDS14679.1																																																																																				PASS	0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		18	116	18	116	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144329162	144329162	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:144329162C>T	ENST00000370493.3	+	1	815	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	19								p.S19F(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGTGAATCCAACAATGAA	0.453																																						uc004fcb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(55-57)TCC>TTC		SPANX-N1 protein							240.0	205.0	217.0					X																	144329162		2203	4299	6502	SO:0001583	missense	494118							g.chrX:144329162C>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.56C>T	X.37:g.144329162C>T	ENSP00000359524:p.Ser19Phe						p.S19F	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			1	56	+	Acute lymphoblastic leukemia(192;6.56e-05)		19						Missense_Mutation	SNP	ENST00000370493.3	37	c.56C>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	C	6.755	0.508150	0.12883	.	.	ENSG00000203923	ENST00000370493	T	0.15372	2.43	.	.	.	.	.	.	.	.	T	0.34193	0.0889	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10222	-1.0639	6	0.87932	D	0	.	.	.	.	.	19	Q5VSR9	SPXN1_HUMAN	F	19	ENSP00000359524:S19F	ENSP00000359524:S19F	S	+	2	0	SPANXN1	144136854	0.003000	0.15002	0.219000	0.23793	0.223000	0.24884	0.278000	0.18753	0.054000	0.16065	0.054000	0.15206	TCC		PASS	0.453	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		18	151	18	151	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797858	148797858	+	Silent	SNP	C	C	A			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:148797858C>A	ENST00000355220.5	+	5	814	c.712C>A	c.(712-714)Cga>Aga	p.R238R	MAGEA11_ENST00000333104.4_Silent_p.R209R	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	238	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R238R(2)|p.Q193H(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCGCAAGTATCGAGTCAAGGG	0.433																																						uc004fdq.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(4)	ovary(2)	2						c.(712-714)CGA>AGA		melanoma antigen family A, 11 isoform a							114.0	116.0	116.0					X																	148797858		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148797858C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.712C>A	X.37:g.148797858C>A						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.R209R	p.R238R	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	814	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		238			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.712C>A	CCDS48180.1																																																																																				PASS	0.433	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		32	183	32	183	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149963707	149963707	+	Silent	SNP	G	G	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:149963707G>T	ENST00000370377.3	-	6	519	c.402C>A	c.(400-402)ggC>ggA	p.G134G	CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Silent_p.G62G|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.G85G	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	134					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R135S(1)|p.G134G(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCCTGCGGCCATCATCTC	0.473																																						uc004fel.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	large_intestine(2)|ovary(1)	3						c.(400-402)GGC>GGA		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							156.0	158.0	157.0					X																	149963707		2203	4300	6503	SO:0001819	synonymous_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963707G>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.402C>A	X.37:g.149963707G>T						CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Silent_p.G85G|CD99L2_uc004fen.2_Silent_p.G62G|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron	p.G134G	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			6	520	-	Acute lymphoblastic leukemia(192;6.56e-05)		134			Extracellular (Potential).		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	37	c.402C>A	CCDS35427.1																																																																																				PASS	0.473	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		11	189	11	189	---	---	---	---
PRRG3	79057	broad.mit.edu	37	X	150868563	150868563	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:150868563G>C	ENST00000370353.3	+	3	493	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	PRRG3_ENST00000538575.1_Missense_Mutation_p.E35Q|PRRG3_ENST00000370354.1_Missense_Mutation_p.E43Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	35	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E35Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGCGAGAGTGCATGGA	0.562																																						uc004few.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(103-105)GAG>CAG		proline rich Gla (G-carboxyglutamic acid) 3							87.0	77.0	80.0					X																	150868563		2203	4300	6503	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150868563G>C	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.103G>C	X.37:g.150868563G>C	ENSP00000359378:p.Glu35Gln						p.E35Q	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN			3	493	+	Acute lymphoblastic leukemia(192;6.56e-05)		35			Gla.|Extracellular (Potential).		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.103G>C	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625138	0.87560	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	D;D;D;D	0.99981	-10.36;-10.36;-10.36;-10.36	4.4	4.4	0.53042	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.91768	3.24	0.51767	D	0.999933	D	0.69078	0.997	D	0.63113	0.911	D	0.95380	0.8472	10	0.87932	D	0	-6.8132	13.8194	0.63311	0.0:0.0:1.0:0.0	.	35	Q9BZD7	TMG3_HUMAN	Q	35;35;43;35	ENSP00000411509:E35Q;ENSP00000440217:E35Q;ENSP00000359379:E43Q;ENSP00000359378:E35Q	ENSP00000359378:E35Q	E	+	1	0	PRRG3	150619219	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	9.247000	0.95444	1.910000	0.55303	0.529000	0.55759	GAG		PASS	0.562	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		13	94	13	94	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043145	73043145	+	lincRNA	DEL	T	T	-	rs375977945		TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:73043145delT	ENST00000604411.1	+	0	31106				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		tttttctttcttttttttttt	0.348													|||unknown(HR)	989	0.261987	0.3207	0.2032	3775	,	,		11900	0.1071		0.1491	False		,,,				2504	0.1697					uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							2.0	2.0	2.0					X																	73043145		660	1494	2154			9383							g.chrX:73043145delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043145delT						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	DEL	ENST00000604411.1	37	c.31106delT																																																																																						0.348	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		3	4	3	4	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151869605	151869605	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5232-01A-21D-1817-08	TCGA-34-5232-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f32fff2f-0bbf-475f-b088-3f1699203c31	0cfe040a-6fc3-4add-8222-527cccfed139	g.chrX:151869605C>T	ENST00000329342.5	+	3	520	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	99								p.P99S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCACCTTCCCTGACCTGGA	0.557																																						uc004ffq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)CCT>TCT		melanoma antigen family A, 6							108.0	98.0	101.0					X																	151869605		2202	4300	6502	SO:0001583	missense	4105						protein binding	g.chrX:151869605C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.295C>T	X.37:g.151869605C>T	ENSP00000329199:p.Pro99Ser					MAGEA6_uc004ffr.1_Missense_Mutation_p.P99S|MAGEA2_uc010nto.2_Intron	p.P99S	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	489	+	Acute lymphoblastic leukemia(192;6.56e-05)		99					A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.295C>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	4.124	0.021188	0.08006	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.02446	4.63;4.29;4.36	0.605	0.605	0.17553	.	14.166600	0.00166	N	0.000000	T	0.04003	0.0112	L	0.48642	1.525	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.44345	-0.9334	9	0.27785	T	0.31	.	.	.	.	.	99	P43360	MAGA6_HUMAN	S	99	ENSP00000329199:P99S;ENSP00000403303:P99S;ENSP00000401806:P99S	ENSP00000329199:P99S	P	+	1	0	MAGEA6	151620261	0.000000	0.05858	0.008000	0.14137	0.037000	0.13140	-0.527000	0.06200	0.573000	0.29400	0.181000	0.17075	CCT		PASS	0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		19	152	19	152	---	---	---	---
