#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
PRDM16	63976	broad.mit.edu	37	1	3328212	3328212	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:3328212G>T	ENST00000270722.5	+	9	1500	c.1451G>T	c.(1450-1452)gGc>gTc	p.G484V	PRDM16_ENST00000378391.2_Missense_Mutation_p.G484V|PRDM16_ENST00000514189.1_Missense_Mutation_p.G485V|PRDM16_ENST00000442529.2_Missense_Mutation_p.G484V|PRDM16_ENST00000378398.3_Missense_Mutation_p.G485V|PRDM16_ENST00000441472.2_Missense_Mutation_p.G484V|PRDM16_ENST00000511072.1_Missense_Mutation_p.G485V|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	484	Pro-rich.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.G484V(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCCAGCCTGGGCTTCAACGAG	0.687			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1450-1452)GGC>GTC		PR domain containing 16 isoform 1							63.0	74.0	71.0					1																	3328212		2006	4160	6166	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328212G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1451G>T	1.37:g.3328212G>T	ENSP00000270722:p.Gly484Val					PRDM16_uc001akc.2_Missense_Mutation_p.G484V|PRDM16_uc001akd.2_Missense_Mutation_p.G484V|PRDM16_uc001ake.2_Missense_Mutation_p.G484V|PRDM16_uc009vlh.2_Missense_Mutation_p.G185V	p.G484V	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	1531	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	484			Pro-rich.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1451G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490285	0.44249	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.07216	3.22;3.24;3.25;3.25;3.23;3.26;3.25;3.21;3.22	5.18	5.18	0.71444	.	0.128742	0.33854	N	0.004495	T	0.26195	0.0639	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.69078	0.972;0.997;0.984;0.995	P;D;P;P	0.65773	0.669;0.938;0.804;0.868	T	0.00412	-1.1755	10	0.59425	D	0.04	.	14.3151	0.66443	0.0:0.1485:0.8515:0.0	.	484;484;484;484	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	V	485;485;484;484;484;485;484;300;300;293	ENSP00000426975:G485V;ENSP00000367651:G485V;ENSP00000407968:G484V;ENSP00000405253:G484V;ENSP00000367643:G484V;ENSP00000421400:G485V;ENSP00000270722:G484V;ENSP00000422504:G300V;ENSP00000425796:G293V	ENSP00000270722:G484V	G	+	2	0	PRDM16	3318072	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	6.513000	0.73742	2.428000	0.82296	0.609000	0.83330	GGC		PASS	0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		17	24	17	24	---	---	---	---
CLSTN1	22883	broad.mit.edu	37	1	9791432	9791432	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:9791432C>A	ENST00000377298.4	-	18	3372	c.2580G>T	c.(2578-2580)gcG>gcT	p.A860A	CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_Silent_p.A841A|CLSTN1_ENST00000361311.4_Silent_p.A850A	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	860					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.A860A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCACAACTGTCGCAGTGCTGG	0.627																																						uc001aqh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2578-2580)GCG>GCT		calsyntenin 1 isoform 1							85.0	73.0	77.0					1																	9791432		2203	4300	6503	SO:0001819	synonymous_variant	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9791432C>A	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2580G>T	1.37:g.9791432C>A						CLSTN1_uc001aqi.2_Silent_p.A850A|CLSTN1_uc010oag.1_Silent_p.A841A|CLSTN1_uc001aqf.2_Silent_p.A96A	p.A860A	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	18	3339	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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)	860			Helical; (Potential).		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	c.2580G>T	CCDS30580.1																																																																																				PASS	0.627	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			13	19	13	19	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11187830	11187830	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:11187830A>C	ENST00000361445.4	-	44	6143	c.6067T>G	c.(6067-6069)Tgg>Ggg	p.W2023G	MTOR_ENST00000376838.1_Missense_Mutation_p.W228G	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2023	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.W2023G(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATCTCATGCCAGAGGATGGCC	0.517																																						uc001asd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(6067-6069)TGG>GGG		FK506 binding protein 12-rapamycin associated							186.0	191.0	190.0					1																	11187830		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11187830A>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6067T>G	1.37:g.11187830A>C	ENSP00000354558:p.Trp2023Gly					MTOR_uc001asc.2_Missense_Mutation_p.W228G	p.W2023G	NM_004958	NP_004949	P42345	MTOR_HUMAN			44	6188	-			2023					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6067T>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257264	0.80246	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.14391	2.72;2.51	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (3);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64972	-0.6281	10	0.72032	D	0.01	-21.4616	16.1549	0.81657	1.0:0.0:0.0:0.0	.	2023	P42345	MTOR_HUMAN	G	2023;228	ENSP00000354558:W2023G;ENSP00000366034:W228G	ENSP00000354558:W2023G	W	-	1	0	MTOR	11110417	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.691000	0.91279	2.209000	0.71365	0.533000	0.62120	TGG		PASS	0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		10	105	10	105	---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23240007	23240007	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:23240007A>T	ENST00000400191.3	+	16	2923	c.2905A>T	c.(2905-2907)Aac>Tac	p.N969Y	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.N970Y|EPHB2_ENST00000374630.3_Missense_Mutation_p.N969Y	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	969	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.N969Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AAAAATCCTGAACAGTATCCA	0.557																																						uc009vqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(2905-2907)AAC>TAC		ephrin receptor EphB2 isoform 1 precursor							90.0	93.0	92.0					1																	23240007		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240007A>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2905A>T	1.37:g.23240007A>T	ENSP00000383053:p.Asn969Tyr					EPHB2_uc001bge.2_Missense_Mutation_p.N970Y|EPHB2_uc001bgf.2_Missense_Mutation_p.N969Y|EPHB2_uc010odu.1_Missense_Mutation_p.N911Y	p.N969Y	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	16	3050	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	969			Cytoplasmic (Potential).|SAM.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2905A>T		.	.	.	.	.	.	.	.	.	.	A	19.43	3.826448	0.71143	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632	T;T;T	0.47869	0.83;0.83;0.83	4.75	4.75	0.60458	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.45422	1.42	0.80722	D	1	B;D;D;D	0.54601	0.333;0.967;0.967;0.96	B;D;D;P	0.65323	0.185;0.934;0.934;0.891	T	0.55108	-0.8192	10	0.37606	T	0.19	.	13.2888	0.60258	1.0:0.0:0.0:0.0	.	911;969;987;970	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	Y	911;969;969;970	ENSP00000363761:N969Y;ENSP00000383053:N969Y;ENSP00000363763:N970Y	ENSP00000363755:N911Y	N	+	1	0	EPHB2	23112594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.138000	0.94501	2.015000	0.59207	0.449000	0.29647	AAC		PASS	0.557	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		8	20	8	20	---	---	---	---
HMGB4	127540	broad.mit.edu	37	1	34330035	34330035	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:34330035G>T	ENST00000522796.1	+	4	2148	c.243G>T	c.(241-243)aaG>aaT	p.K81N	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.K81N			Q8WW32	HMGB4_HUMAN	high mobility group box 4	81						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K81N(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGTTGGCAAGAGGAAGAAAC	0.493																																						uc001bxp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)AAG>AAT		HMG2 like isoform 1							132.0	150.0	144.0					1																	34330035		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34330035G>T		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.243G>T	1.37:g.34330035G>T	ENSP00000430919:p.Lys81Asn					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.K7N	p.K81N	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	1986	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	81					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.243G>T	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172183	0.38315	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.17370	2.28;2.28	5.58	3.72	0.42706	.	0.832224	0.10904	N	0.621285	T	0.13927	0.0337	L	0.32530	0.975	0.36257	D	0.854293	B	0.19706	0.038	B	0.16722	0.016	T	0.08617	-1.0713	10	0.72032	D	0.01	.	7.0623	0.25133	0.0852:0.0:0.7451:0.1697	.	81	B2R4X7	.	N	81	ENSP00000429214:K81N;ENSP00000430919:K81N	ENSP00000429214:K81N	K	+	3	2	HMGB4	34102622	1.000000	0.71417	0.042000	0.18584	0.716000	0.41182	3.468000	0.53086	0.915000	0.36847	0.609000	0.83330	AAG		PASS	0.493	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		6	96	6	96	---	---	---	---
SNIP1	79753	broad.mit.edu	37	1	38019758	38019758	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:38019758C>A	ENST00000296215.6	-	1	145	c.73G>T	c.(73-75)Gcg>Tcg	p.A25S	DNALI1_ENST00000296218.7_5'Flank|DNALI1_ENST00000541606.1_5'Flank|SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	25					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A25S(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACCACCCCCGCCGGCAGCACC	0.672																																						uc001cbi.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(73-75)GCG>TCG		Smad nuclear interacting protein							34.0	32.0	33.0					1																	38019758		2194	4287	6481	SO:0001583	missense	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38019758C>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.73G>T	1.37:g.38019758C>A	ENSP00000296215:p.Ala25Ser					SNIP1_uc010oid.1_RNA|DNALI1_uc001cbj.2_5'Flank|DNALI1_uc010oie.1_5'Flank	p.A25S	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN			1	146	-		Myeloproliferative disorder(586;0.0393)	25					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.73G>T	CCDS419.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124376	0.20959	.	.	ENSG00000163877	ENST00000296215	T	0.15603	2.41	5.15	-0.214	0.13161	.	0.759101	0.11630	N	0.544853	T	0.07908	0.0198	N	0.14661	0.345	0.09310	N	1	B	0.20052	0.041	B	0.17098	0.017	T	0.40553	-0.9557	10	0.20519	T	0.43	6.587	4.8224	0.13398	0.0:0.4521:0.2929:0.255	.	25	Q8TAD8	SNIP1_HUMAN	S	25	ENSP00000296215:A25S	ENSP00000296215:A25S	A	-	1	0	SNIP1	37792345	0.005000	0.15991	0.000000	0.03702	0.024000	0.10985	0.449000	0.21744	-0.215000	0.10063	0.591000	0.81541	GCG		PASS	0.672	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		7	4	7	4	---	---	---	---
CDC20	991	broad.mit.edu	37	1	43825396	43825396	+	Splice_Site	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:43825396G>A	ENST00000372462.1	+	3	534	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	CDC20_ENST00000310955.6_Splice_Site_p.E111K|RP1-92O14.3_ENST00000424948.1_RNA			Q12834	CDC20_HUMAN	cell division cycle 20	111					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)	p.E111K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTATGCCAGGAACATCAGAA	0.502																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	uc001cix.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GAA>AAA		cell division cycle 20							150.0	161.0	158.0					1																	43825396		2203	4300	6503	SO:0001630	splice_region_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43825396G>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.331-1G>A	1.37:g.43825396G>A						CDC20_uc001ciy.2_Missense_Mutation_p.E111K	p.E111K	NM_001255	NP_001246	Q12834	CDC20_HUMAN			4	432	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	111					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Missense_Mutation	SNP	ENST00000372462.1	37	c.331G>A	CCDS484.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393311	0.62066	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	T;T	0.08458	3.09;3.09	5.74	5.74	0.90152	.	0.137514	0.47093	D	0.000245	T	0.15262	0.0368	M	0.76838	2.35	0.80722	D	1	B	0.32573	0.376	B	0.29598	0.104	T	0.02491	-1.1151	9	.	.	.	-7.5479	19.9295	0.97114	0.0:0.0:1.0:0.0	.	111	Q12834	CDC20_HUMAN	K	87;111;111	ENSP00000308450:E111K;ENSP00000361540:E111K	.	E	+	1	0	CDC20	43597983	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.255000	0.72466	2.695000	0.91970	0.655000	0.94253	GAA		PASS	0.502	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255	Missense_Mutation	60	94	60	94	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47504418	47504418	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:47504418G>T	ENST00000371901.3	+	7	1112	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	CYP4X1_ENST00000538609.1_Missense_Mutation_p.D287Y|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	288						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D288Y(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGATTTTCTGGATATTGTCCT	0.423																																						uc001cqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(862-864)GAT>TAT		cytochrome P450, family 4, subfamily X,							98.0	90.0	92.0					1																	47504418		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47504418G>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.862G>T	1.37:g.47504418G>T	ENSP00000360968:p.Asp288Tyr					CYP4X1_uc001cqr.2_Missense_Mutation_p.D287Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.D223Y	p.D288Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			7	1112	+			288					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.862G>T	CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591536	0.86953	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	D;T	0.82803	-1.65;-0.67	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94812	0.7979	10	0.87932	D	0	.	20.1672	0.98154	0.0:0.0:1.0:0.0	.	288;287	Q8N118;G3V1U1	CP4X1_HUMAN;.	Y	287;288	ENSP00000445965:D287Y;ENSP00000360968:D288Y	ENSP00000360968:D288Y	D	+	1	0	CYP4X1	47277005	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.369000	0.90118	2.861000	0.98227	0.655000	0.94253	GAT		PASS	0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		12	25	12	25	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75055611	75055611	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:75055611T>C	ENST00000326665.5	-	12	2098	c.1880A>G	c.(1879-1881)gAt>gGt	p.D627G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D430G	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		627	Glu-rich.							p.D627G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTGGCTTATCATTTTCACT	0.453																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1879-1881)GAT>GGT		hypothetical protein LOC127254							120.0	118.0	119.0					1																	75055611		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75055611T>C																												ENST00000326665.5:c.1880A>G	1.37:g.75055611T>C	ENSP00000322609:p.Asp627Gly					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D421G	p.D627G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			12	2099	-			627			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1880A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861576	0.32884	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22336	2.3;1.96	5.27	4.11	0.48088	.	.	.	.	.	T	0.06645	0.0170	L	0.43923	1.385	0.09310	N	1	B;P	0.35575	0.29;0.51	B;B	0.34536	0.185;0.185	T	0.28038	-1.0056	9	0.29301	T	0.29	-8.2159	8.1344	0.31046	0.0:0.0928:0.0:0.9072	.	430;627	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	G	627;430	ENSP00000322609:D627G;ENSP00000398581:D430G	ENSP00000322609:D627G	D	-	2	0	C1orf173	74828199	0.943000	0.32029	0.018000	0.16275	0.003000	0.03518	1.262000	0.32992	0.801000	0.34066	0.523000	0.50628	GAT		PASS	0.453	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			3	67	3	67	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	92979449	92979449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:92979449C>A	ENST00000370331.1	-	18	2206	c.2197G>T	c.(2197-2199)Gga>Tga	p.G733*	EVI5_ENST00000540033.1_Nonsense_Mutation_p.G733*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.G744*	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	733	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G733*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCATCATCTCCTATTAAATGG	0.408																																						uc001dox.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2197-2199)GGA>TGA		ecotropic viral integration site 5							54.0	55.0	55.0					1																	92979449		2203	4300	6503	SO:0001587	stop_gained	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:92979449C>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2197G>T	1.37:g.92979449C>A	ENSP00000359356:p.Gly733*					EVI5_uc010otf.1_Nonsense_Mutation_p.G744*	p.G733*	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	18	2207	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	733			Targeting to the centrosomes.|Interaction with AURKB and INCENP.		A6NKX8|B9A6J0|Q9H1Y9	Nonsense_Mutation	SNP	ENST00000370331.1	37	c.2197G>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432605	0.96150	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	.	.	.	6.06	5.15	0.70609	.	0.065764	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.3828	9.4021	0.38440	0.1424:0.7861:0.0:0.0715	.	.	.	.	X	733;733;744	.	ENSP00000359356:G733X	G	-	1	0	EVI5	92752037	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.262000	0.72514	1.581000	0.49865	0.650000	0.86243	GGA		PASS	0.408	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		4	28	4	28	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103355028	103355028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:103355028C>A	ENST00000370096.3	-	59	4759	c.4447G>T	c.(4447-4449)Gga>Tga	p.G1483*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.G1495*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.G1367*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.G1444*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1483	Collagen-like 7.|Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1483*(1)|p.G1495*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTTTGCTCCTGGAGATCCT	0.448																																						uc001dul.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4447-4449)GGA>TGA		alpha 1 type XI collagen isoform A							83.0	82.0	83.0					1																	103355028		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355028C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4447G>T	1.37:g.103355028C>A	ENSP00000359114:p.Gly1483*					COL11A1_uc001duk.2_Nonsense_Mutation_p.G679*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G1495*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1444*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G1367*	p.G1483*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4765	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1483			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.4447G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	46	12.139302	0.99639	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	.	.	.	X	1483;1495;1444;703;1367	.	ENSP00000302551:G1444X	G	-	1	0	COL11A1	103127616	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GGA		PASS	0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		24	27	24	27	---	---	---	---
CSF1	1435	broad.mit.edu	37	1	110466223	110466223	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:110466223G>T	ENST00000329608.6	+	6	1371	c.980G>T	c.(979-981)aGg>aTg	p.R327M	CSF1_ENST00000344188.5_Missense_Mutation_p.R327M|CSF1_ENST00000369801.1_Missense_Mutation_p.R327M|CSF1_ENST00000369802.3_Missense_Mutation_p.R327M|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	327					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)	p.R327M(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCCCCTCCAGGCCAGGAGGG	0.592											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(979-981)AGG>ATG		colony stimulating factor 1 isoform a precursor							47.0	48.0	48.0					1																	110466223		2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466223G>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.980G>T	1.37:g.110466223G>T	ENSP00000327513:p.Arg327Met		OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427	CSF1_uc001dyt.2_Missense_Mutation_p.R327M|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.R327M	p.R327M	NM_172212	NP_757351	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1393	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	327			Lumenal (Potential).		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.980G>T	CCDS816.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925969	0.52759	.	.	ENSG00000184371	ENST00000344188;ENST00000329608;ENST00000369802;ENST00000369801	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.0	0.639	0.17747	.	1.263100	0.05752	N	0.603387	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	D;D	0.56287	0.975;0.969	P;P	0.60173	0.87;0.655	T	0.16512	-1.0400	10	0.46703	T	0.11	.	2.8251	0.05483	0.1073:0.1483:0.5001:0.2443	.	327;327	P09603;P09603-2	CSF1_HUMAN;.	M	327	ENSP00000342718:R327M;ENSP00000327513:R327M;ENSP00000358817:R327M;ENSP00000358816:R327M	ENSP00000327513:R327M	R	+	2	0	CSF1	110267746	0.000000	0.05858	0.104000	0.21259	0.435000	0.31806	-0.437000	0.06914	0.256000	0.21614	0.313000	0.20887	AGG		PASS	0.592	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		16	22	16	22	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112999425	112999425	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:112999425A>T	ENST00000271277.6	+	6	1536	c.1311A>T	c.(1309-1311)ttA>ttT	p.L437F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	437					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.L437F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		CTAAGCGTTTATTGGGGTCAT	0.552																																						uc001ebx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1309-1311)TTA>TTT		CTTNBP2 N-terminal like							247.0	253.0	251.0					1																	112999425		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999425A>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1311A>T	1.37:g.112999425A>T	ENSP00000271277:p.Leu437Phe					CTTNBP2NL_uc001ebz.2_5'Flank	p.L437F	NM_018704	NP_061174	Q9P2B4	CT2NL_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)	6	1539	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	437					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1311A>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441932	0.43326	.	.	ENSG00000143079	ENST00000271277	T	0.24723	1.84	5.56	-6.42	0.01932	.	0.155179	0.37715	N	0.001963	T	0.17789	0.0427	L	0.54323	1.7	0.19775	N	0.999959	D	0.89917	1.0	D	0.69307	0.963	T	0.08006	-1.0743	10	0.54805	T	0.06	-4.9301	4.7836	0.13215	0.1793:0.2183:0.4991:0.1033	.	437	Q9P2B4	CT2NL_HUMAN	F	437	ENSP00000271277:L437F	ENSP00000271277:L437F	L	+	3	2	CTTNBP2NL	112800948	0.000000	0.05858	0.003000	0.11579	0.861000	0.49209	-1.075000	0.03423	-0.644000	0.05465	0.379000	0.24179	TTA		PASS	0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		51	110	51	110	---	---	---	---
THEM4	117145	broad.mit.edu	37	1	151861829	151861829	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:151861829C>T	ENST00000368814.3	-	3	656	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	103					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.E103K(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GACATTTGTTCTTCTTTCATA	0.453																																						uc001ezj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)GAA>AAA		thioesterase superfamily member 4							86.0	85.0	85.0					1																	151861829		2203	4300	6503	SO:0001583	missense	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151861829C>T	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.307G>A	1.37:g.151861829C>T	ENSP00000357804:p.Glu103Lys					THEM4_uc001ezk.1_RNA	p.E103K	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	486	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		103					B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	c.307G>A	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660840	0.29515	.	.	ENSG00000159445	ENST00000368814	T	0.21361	2.01	4.99	-0.834	0.10779	.	0.623994	0.14279	N	0.329641	T	0.04272	0.0118	M	0.63428	1.95	0.09310	N	1	B	0.30763	0.294	B	0.22152	0.038	T	0.42413	-0.9453	10	0.08381	T	0.77	-1.5534	4.2189	0.10547	0.0:0.3742:0.325:0.3008	.	103	Q5T1C6	THEM4_HUMAN	K	103	ENSP00000357804:E103K	ENSP00000357804:E103K	E	-	1	0	THEM4	150128453	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-0.012000	0.12699	0.039000	0.15632	0.655000	0.94253	GAA		PASS	0.453	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		21	31	21	31	---	---	---	---
S100A11	6282	broad.mit.edu	37	1	152006196	152006196	+	Silent	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:152006196A>G	ENST00000271638.2	-	2	203	c.84T>C	c.(82-84)gaT>gaC	p.D28D	S100A11_ENST00000478109.1_5'UTR|NBPF18P_ENST00000432386.1_RNA	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	28	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)	p.D28D(1)		large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTTATAACCATCCTTTCCAG	0.473																																					Colon(152;1751 1834 12462 21158 46902)	uc001ezn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)GAT>GAC		S100 calcium binding protein A11							115.0	107.0	110.0					1																	152006196		2203	4300	6503	SO:0001819	synonymous_variant	6282				negative regulation of cell proliferation|negative regulation of DNA replication|signal transduction	cytoplasm|nucleus|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding	g.chr1:152006196A>G	D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.84T>C	1.37:g.152006196A>G						uc001ezm.1_Intron	p.D28D	NM_005620	NP_005611	P31949	S10AB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		2	204	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		28			1; low affinity (Potential).|EF-hand 1.		Q5VTK0	Silent	SNP	ENST00000271638.2	37	c.84T>C	CCDS1009.1																																																																																				PASS	0.473	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620		29	50	29	50	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328465	152328465	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:152328465G>T	ENST00000388718.5	-	3	1869	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	599	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G599G(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTCCTGAGCCAGACCCAT	0.522																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(1795-1797)GGC>GGA		filaggrin family member 2							198.0	233.0	221.0					1																	152328465		2203	4298	6501	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328465G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1797C>A	1.37:g.152328465G>T						uc001ezv.2_Intron	p.G599G	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1870	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		599			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1797C>A	CCDS30861.1																																																																																				PASS	0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		76	122	76	122	---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155657886	155657886	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:155657886G>T	ENST00000295566.4	-	2	177	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	YY1AP1_ENST00000311573.5_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L124I|YY1AP1_ENST00000355499.4_5'UTR|DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000407221.1_5'UTR|YY1AP1_ENST00000438245.2_5'UTR|YY1AP1_ENST00000361831.5_5'UTR|DAP3_ENST00000343043.3_5'Flank|DAP3_ENST00000421487.2_5'Flank|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000404643.1_5'UTR|YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L124I|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Intron|DAP3_ENST00000465375.1_5'Flank|YY1AP1_ENST00000368340.5_Missense_Mutation_p.L124I|DAP3_ENST00000535183.1_5'Flank|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_5'UTR|DAP3_ENST00000471642.2_5'UTR	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	52					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L124I(1)|p.L52I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGCGATGAGAGTACAGGGA	0.642																																						uc001fln.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(154-156)CTC>ATC		YY1-associated protein isoform 2							39.0	46.0	44.0					1																	155657886		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155657886G>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.154C>A	1.37:g.155657886G>T	ENSP00000295566:p.Leu52Ile					YY1AP1_uc010pgi.1_Missense_Mutation_p.L124I|YY1AP1_uc001flh.2_Missense_Mutation_p.L124I|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_5'UTR|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_5'UTR|YY1AP1_uc001fli.2_5'UTR|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_5'UTR|YY1AP1_uc009wqw.2_5'UTR|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Missense_Mutation_p.L52I|YY1AP1_uc009wqx.2_Missense_Mutation_p.L124I|YY1AP1_uc010pgk.1_Missense_Mutation_p.L124I|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank	p.L52I	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			2	178	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		52					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.154C>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.473761	0.43942	.	.	ENSG00000163374	ENST00000368340;ENST00000295566;ENST00000368339;ENST00000405763	T;T;T	0.28069	1.67;1.76;1.63	2.85	1.91	0.25777	.	0.283555	0.35615	N	0.003096	T	0.05364	0.0142	N	0.08118	0	0.80722	D	1	P;P;P;P;P	0.50710	0.648;0.904;0.938;0.766;0.904	B;B;B;B;B	0.37650	0.064;0.255;0.192;0.163;0.255	T	0.17899	-1.0354	10	0.87932	D	0	.	6.0225	0.19636	0.1529:0.0:0.8471:0.0	.	52;124;124;52;124	B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q5VYZ1	.;.;.;YYAP1_HUMAN;.	I	124;52;124;124	ENSP00000357324:L124I;ENSP00000295566:L52I;ENSP00000357323:L124I	ENSP00000295566:L52I	L	-	1	0	YY1AP1	153924510	1.000000	0.71417	0.985000	0.45067	0.922000	0.55478	3.582000	0.53921	0.519000	0.28406	0.398000	0.26397	CTC		PASS	0.642	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		5	35	5	35	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156926247	156926247	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:156926247C>A	ENST00000361409.2	-	18	2258	c.1516G>T	c.(1516-1518)Gac>Tac	p.D506Y	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D546Y	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	506					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D546Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCACTTGTCCTTGTCAGGA	0.552																																						uc001fqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(1516-1518)GAC>TAC		Rho guanine nucleotide exchange factor (GEF) 11							179.0	161.0	167.0					1																	156926247		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156926247C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1516G>T	1.37:g.156926247C>A	ENSP00000354644:p.Asp506Tyr					ARHGEF11_uc001fqn.2_Missense_Mutation_p.D546Y|ARHGEF11_uc001fqp.1_Missense_Mutation_p.D35Y	p.D506Y	NM_014784	NP_055599	O15085	ARHGB_HUMAN			18	2556	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		506					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1516G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473511	0.84640	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.69306	-0.39;-0.39	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000026	T	0.60547	0.2277	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.977	T	0.71886	-0.4457	10	0.66056	D	0.02	-26.7643	18.074	0.89422	0.0:1.0:0.0:0.0	.	506;546	O15085;O15085-2	ARHGB_HUMAN;.	Y	546;506	ENSP00000357177:D546Y;ENSP00000354644:D506Y	ENSP00000354644:D506Y	D	-	1	0	ARHGEF11	155192871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.594000	0.67557	2.593000	0.87608	0.585000	0.79938	GAC		PASS	0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		55	33	55	33	---	---	---	---
OR10T2	128360	broad.mit.edu	37	1	158369188	158369188	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:158369188C>T	ENST00000334438.1	-	1	68	c.69G>A	c.(67-69)gaG>gaA	p.E23E		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E23E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCAGCTGGAGCTCCCCCAGGC	0.478																																						uc010pih.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(67-69)GAG>GAA		olfactory receptor, family 10, subfamily T,							35.0	39.0	38.0					1																	158369188		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369188C>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.69G>A	1.37:g.158369188C>T							p.E23E	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	69	-	all_hematologic(112;0.0378)		23			Extracellular (Potential).		Q6IF98	Silent	SNP	ENST00000334438.1	37	c.69G>A	CCDS30895.1																																																																																				PASS	0.478	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		6	24	6	24	---	---	---	---
NUF2	83540	broad.mit.edu	37	1	163295923	163295923	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:163295923G>T	ENST00000271452.3	+	2	361	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	NUF2_ENST00000524800.1_Missense_Mutation_p.G28C|NUF2_ENST00000367900.3_Missense_Mutation_p.G28C|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	28	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.G28S(2)|p.G28C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGAGCTGATGGTAAAAACCT	0.358																																						uc001gcq.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|skin(1)	4						c.(82-84)GGT>TGT		NUF2, NDC80 kinetochore complex component							118.0	119.0	119.0					1																	163295923		2203	4300	6503	SO:0001583	missense	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163295923G>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.82G>T	1.37:g.163295923G>T	ENSP00000271452:p.Gly28Cys					NUF2_uc001gcp.2_Missense_Mutation_p.G28C|NUF2_uc001gcr.1_Missense_Mutation_p.G28C|NUF2_uc009wvc.1_Missense_Mutation_p.G28C	p.G28C	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			2	382	+	all_hematologic(923;0.101)		28			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.82G>T	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320766	0.81469	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.35789	1.29;1.29;1.29	5.68	5.68	0.88126	.	0.097447	0.64402	D	0.000002	T	0.48295	0.1492	L	0.50333	1.59	0.33839	D	0.631218	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.39742	-0.9599	9	0.56958	D	0.05	-20.1277	17.1031	0.86655	0.0:0.0:1.0:0.0	.	28;28;28	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	C	28	ENSP00000436888:G28C;ENSP00000356875:G28C;ENSP00000271452:G28C	ENSP00000271452:G28C	G	+	1	0	NUF2	161562547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.992000	0.63889	2.861000	0.98227	0.650000	0.86243	GGT		PASS	0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		5	67	5	67	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166990397	166990397	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:166990397G>T	ENST00000367872.4	+	11	1361	c.1117G>T	c.(1117-1119)Ggt>Tgt	p.G373C	MAEL_ENST00000367870.2_Splice_Site_p.G342C|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	373					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.G373C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CACACCCATTGGTAAGCAACT	0.363																																						uc001gdy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1117-1119)GGT>TGT		maelstrom homolog							73.0	75.0	75.0					1																	166990397		2203	4299	6502	SO:0001630	splice_region_variant	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166990397G>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1117+1G>T	1.37:g.166990397G>T						MAEL_uc001gdz.1_Missense_Mutation_p.G342C|MAEL_uc009wvf.1_RNA	p.G373C	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			11	1188	+			373					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1117G>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354434	0.24512	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.48201	0.82;0.82	4.62	3.63	0.41609	.	0.309004	0.28166	N	0.016345	T	0.12050	0.0293	N	0.08118	0	0.80722	D	1	B;P	0.38110	0.058;0.618	B;B	0.29353	0.019;0.101	T	0.09271	-1.0682	10	0.54805	T	0.06	.	9.4336	0.38626	0.0:0.0:0.7882:0.2118	.	342;373	E9JVC3;Q96JY0	.;MAEL_HUMAN	C	373;342;95	ENSP00000356846:G373C;ENSP00000356844:G342C	ENSP00000356844:G342C	G	+	1	0	MAEL	165257021	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	2.642000	0.46596	2.557000	0.86248	0.585000	0.79938	GGT		PASS	0.363	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	Missense_Mutation	5	42	5	42	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167301757	167301757	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:167301757G>A	ENST00000541643.3	+	3	205	c.43G>A	c.(43-45)Gga>Aga	p.G15R	POU2F1_ENST00000452019.1_Missense_Mutation_p.G15R|POU2F1_ENST00000429375.2_Missense_Mutation_p.G38R|POU2F1_ENST00000367862.5_Missense_Mutation_p.G27R|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.G15R|POU2F1_ENST00000367866.2_Missense_Mutation_p.G38R			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	15					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G38R(1)|p.G15R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TATGGAGAGTGGAGATGGCAA	0.373																																						uc001gec.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|breast(1)	5						c.(43-45)GGA>AGA		POU class 2 homeobox 1							80.0	80.0	80.0					1																	167301757		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167301757G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.43G>A	1.37:g.167301757G>A	ENSP00000441285:p.Gly15Arg					POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_5'UTR|POU2F1_uc001gee.2_Missense_Mutation_p.G15R|POU2F1_uc010plh.1_Missense_Mutation_p.G15R|POU2F1_uc001gef.2_Missense_Mutation_p.G27R	p.G15R	NM_002697	NP_002688	P14859	PO2F1_HUMAN			3	205	+			15					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	G	18.87	3.714906	0.68844	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000452019;ENST00000420254;ENST00000541643;ENST00000367862	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.53	4.56	0.56223	.	0.528179	0.17303	N	0.179162	T	0.60741	0.2292	L	0.34521	1.04	0.39679	D	0.97087	B;B;B	0.25743	0.082;0.133;0.082	B;B;B	0.29353	0.047;0.101;0.047	T	0.64097	-0.6487	10	0.62326	D	0.03	.	14.5881	0.68342	0.0:0.0:0.8536:0.1464	.	38;27;15	B4E029;P14859-2;P14859	.;.;PO2F1_HUMAN	R	38;38;15;15;15;27	ENSP00000356840:G38R;ENSP00000401217:G38R;ENSP00000391523:G15R;ENSP00000414660:G15R;ENSP00000441285:G15R;ENSP00000356836:G27R	ENSP00000356836:G27R	G	+	1	0	POU2F1	165568381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.910000	0.69931	2.762000	0.94881	0.591000	0.81541	GGA		PASS	0.373	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		4	55	4	55	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171509367	171509367	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:171509367C>T	ENST00000338920.4	+	16	2993	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	PRRC2C_ENST00000367742.3_Missense_Mutation_p.P921L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P919L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P921L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	919					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P921L(2)									GAAAGTCAGCCTTCCCGGAAA	0.453																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2755-2757)CCT>CTT		HBxAg transactivated protein 2							65.0	66.0	65.0					1																	171509367		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509367C>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2756C>T	1.37:g.171509367C>T	ENSP00000343629:p.Pro919Leu					BAT2L2_uc010pmh.1_5'UTR	p.P919L	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3022	+			919					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2756C>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445890	0.63178	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.69	5.69	0.88448	.	0.313518	0.23079	N	0.052176	T	0.04182	0.0116	N	0.24115	0.695	0.58432	D	0.999999	P	0.41848	0.763	B	0.37144	0.242	T	0.42632	-0.9440	10	0.62326	D	0.03	.	19.884	0.96908	0.0:1.0:0.0:0.0	.	919	Q9Y520-4	.	L	921;920;919;921;919;676;678	ENSP00000375928:P921L;ENSP00000410219:P919L;ENSP00000356716:P921L;ENSP00000343629:P919L	ENSP00000343629:P919L	P	+	2	0	PRRC2C	169775991	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.931000	0.56529	2.708000	0.92522	0.644000	0.83932	CCT		PASS	0.453	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		12	70	12	70	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564488	176564488	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:176564488T>A	ENST00000367662.3	+	3	2912	c.1748T>A	c.(1747-1749)cTt>cAt	p.L583H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L583H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	583	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L583H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CGGGTTGTGCTTGTGAACTGT	0.597																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1747-1749)CTT>CAT		pappalysin 2 isoform 1							112.0	114.0	113.0					1																	176564488		2102	4240	6342	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564488T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1748T>A	1.37:g.176564488T>A	ENSP00000356634:p.Leu583His					PAPPA2_uc001gky.1_Missense_Mutation_p.L583H|PAPPA2_uc009www.2_RNA	p.L583H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2912	+			583			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1748T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.406048	0.62288	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.40756	4.24;1.02	5.11	5.11	0.69529	Notch domain (1);	0.313537	0.30840	N	0.008775	T	0.61850	0.2380	L	0.61218	1.895	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.65841	-0.6070	10	0.87932	D	0	-14.9072	14.5922	0.68373	0.0:0.0:0.0:1.0	.	583;583	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	583	ENSP00000356634:L583H;ENSP00000356633:L583H	ENSP00000356633:L583H	L	+	2	0	PAPPA2	174831111	1.000000	0.71417	0.827000	0.32855	0.465000	0.32709	7.897000	0.87356	1.921000	0.55644	0.455000	0.32223	CTT		PASS	0.597	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			74	54	74	54	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177247876	177247876	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:177247876G>A	ENST00000361539.4	+	7	1502	c.1190G>A	c.(1189-1191)tGc>tAc	p.C397Y	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	397					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.C397Y(1)									TTCAACCTCTGCAAGCGCTGC	0.617																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1189-1191)TGC>TAC		family with sequence similarity 5, member B							61.0	64.0	63.0					1																	177247876		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177247876G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1190G>A	1.37:g.177247876G>A	ENSP00000354481:p.Cys397Tyr					FAM5B_uc010pna.1_Missense_Mutation_p.C147Y|FAM5B_uc001glg.2_Missense_Mutation_p.C292Y	p.C397Y	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			7	1502	+			397					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1190G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371910	0.61624	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14022	2.54	5.39	5.39	0.77823	.	0.095411	0.64402	D	0.000001	T	0.14787	0.0357	N	0.22421	0.69	0.41772	D	0.989772	D;D;P	0.57571	0.969;0.98;0.79	P;P;B	0.47827	0.558;0.532;0.202	T	0.01252	-1.1405	10	0.72032	D	0.01	-23.9604	15.1739	0.72896	0.0:0.1414:0.8586:0.0	.	147;292;397	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	Y	147;397	ENSP00000354481:C397Y	ENSP00000354481:C397Y	C	+	2	0	FAM5B	175514499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.742000	0.85008	2.528000	0.85240	0.655000	0.94253	TGC		PASS	0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		48	48	48	48	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179462086	179462086	+	Splice_Site	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:179462086G>C	ENST00000367618.3	+	20	2775	c.2388G>C	c.(2386-2388)aaG>aaC	p.K796N		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	796								p.K796N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATAAGTTGAAGGTAATAACTC	0.348																																						uc001gmo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2386-2388)AAG>AAC		hypothetical protein LOC126859 isoform 1							129.0	122.0	124.0					1																	179462086		2203	4300	6503	SO:0001630	splice_region_variant	126859							g.chr1:179462086G>C	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2388+1G>C	1.37:g.179462086G>C						C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K796N|C1orf125_uc009wxh.2_RNA	p.K796N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			20	2515	+			796					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.2388G>C	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141194	0.37825	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000359183;ENST00000434088	T;T	0.26660	1.72;1.99	5.03	4.09	0.47781	.	0.073649	0.51477	D	0.000085	T	0.24586	0.0596	L	0.54323	1.7	0.80722	D	1	B;B	0.25904	0.053;0.137	B;B	0.23852	0.028;0.049	T	0.04347	-1.0958	10	0.46703	T	0.11	-2.3077	10.7597	0.46258	0.0:0.0:0.8021:0.1979	.	754;796	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	N	796;754;28;730	ENSP00000356590:K796N;ENSP00000391716:K730N	ENSP00000352107:K28N	K	+	3	2	AXDND1	177728709	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	1.968000	0.40500	1.187000	0.43000	0.552000	0.68991	AAG		PASS	0.348	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Missense_Mutation	26	35	26	35	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179632621	179632621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:179632621C>T	ENST00000367614.1	+	15	2841	c.2482C>T	c.(2482-2484)Caa>Taa	p.Q828*	TDRD5_ENST00000444136.1_Nonsense_Mutation_p.Q882*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.Q828*	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	828					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.Q828*(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						AAACAGGACTCAAAAGGTAAA	0.373																																						uc001gnf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2482-2484)CAA>TAA		tudor domain containing 5							59.0	59.0	59.0					1																	179632621		2203	4300	6503	SO:0001587	stop_gained	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179632621C>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.2482C>T	1.37:g.179632621C>T	ENSP00000356586:p.Gln828*					TDRD5_uc010pnp.1_Nonsense_Mutation_p.Q882*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.Q383*	p.Q828*	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			15	2732	+			828					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Nonsense_Mutation	SNP	ENST00000367614.1	37	c.2482C>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	38	7.192514	0.98125	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	.	.	.	5.25	2.12	0.27331	.	5.229970	0.00669	N	0.000625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-1.0E-4	12.8462	0.57831	0.0:0.523:0.477:0.0	.	.	.	.	X	828;828;882;338	.	ENSP00000294848:Q828X	Q	+	1	0	TDRD5	177899244	0.001000	0.12720	0.006000	0.13384	0.283000	0.27025	0.819000	0.27308	0.144000	0.18951	0.637000	0.83480	CAA		PASS	0.373	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		19	26	19	26	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183518931	183518931	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:183518931G>T	ENST00000347615.2	+	19	2975	c.2856G>T	c.(2854-2856)gaG>gaT	p.E952D	SMG7_ENST00000515829.2_Missense_Mutation_p.E906D|SMG7_ENST00000456731.2_Missense_Mutation_p.E864D|SMG7_ENST00000508461.1_Missense_Mutation_p.E960D|SMG7_ENST00000367537.3_Missense_Mutation_p.E985D|SMG7_ENST00000507469.1_Missense_Mutation_p.E956D	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	952	Ser-rich.				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.E952D(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						TGTTCAATGAGGTATATGGGA	0.418																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2854-2856)GAG>GAT		SMG-7 homolog isoform 1							117.0	116.0	117.0					1																	183518931		2203	4300	6503	SO:0001583	missense	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.chr1:183518931G>T	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.2856G>T	1.37:g.183518931G>T	ENSP00000340766:p.Glu952Asp					SMG7_uc001gqf.2_Missense_Mutation_p.E956D|SMG7_uc001gqh.2_Missense_Mutation_p.E906D|SMG7_uc001gqi.2_Missense_Mutation_p.E864D|SMG7_uc010poc.1_Missense_Mutation_p.E960D	p.E952D	NM_173156	NP_775179	Q92540	SMG7_HUMAN			19	2978	+			952			Ser-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2856G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619024	0.66787	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.66	2.3	0.28687	.	0.159345	0.47455	D	0.000236	T	0.30854	0.0778	L	0.27053	0.805	0.45621	D	0.998557	P;P;P;P;P	0.44006	0.824;0.622;0.525;0.622;0.824	B;B;B;B;B	0.39465	0.3;0.152;0.217;0.152;0.3	T	0.03306	-1.1050	10	0.20046	T	0.44	-14.7256	11.3717	0.49704	0.2346:0.0:0.7654:0.0	.	960;864;906;952;956	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	D	864;985;960;952;956;906	ENSP00000407629:E864D;ENSP00000356507:E985D;ENSP00000426915:E960D;ENSP00000340766:E952D;ENSP00000425133:E956D;ENSP00000421358:E906D	ENSP00000340766:E952D	E	+	3	2	SMG7	181785554	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.397000	0.52572	0.722000	0.32252	0.655000	0.94253	GAG		PASS	0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		5	85	5	85	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185143653	185143653	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:185143653A>G	ENST00000367500.4	+	5	539	c.374A>G	c.(373-375)cAt>cGt	p.H125R	SWT1_ENST00000367501.3_Missense_Mutation_p.H125R	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	125								p.H125R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AAAGACATACATAAATGTGTA	0.328																																						uc001grg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CAT>CGT		hypothetical protein LOC54823							43.0	44.0	43.0					1																	185143653		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185143653A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.374A>G	1.37:g.185143653A>G	ENSP00000356470:p.His125Arg					C1orf26_uc001grh.3_Missense_Mutation_p.H125R	p.H125R	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	488	+			125					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.374A>G	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.410554	0.01145	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.39787	2.39;2.39;1.06	4.72	-9.43	0.00607	.	1.509220	0.03648	N	0.240606	T	0.11623	0.0283	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12142	-1.0559	10	0.10377	T	0.69	.	2.841	0.05530	0.4739:0.1928:0.2366:0.0967	.	125	Q5T5J6	SWT1_HUMAN	R	125	ENSP00000356471:H125R;ENSP00000356470:H125R;ENSP00000401413:H125R	ENSP00000356470:H125R	H	+	2	0	SWT1	183410276	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-2.596000	0.00895	-1.968000	0.01006	-0.321000	0.08615	CAT		PASS	0.328	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		20	19	20	19	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186946790	186946790	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:186946790T>C	ENST00000367466.3	+	16	1982	c.1830T>C	c.(1828-1830)taT>taC	p.Y610Y	PLA2G4A_ENST00000442353.2_Silent_p.Y550Y	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	610	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.Y610Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TTGATCCTTATGTGTTTGATC	0.413																																						uc001gsc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(1)	3						c.(1828-1830)TAT>TAC		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						125.0	113.0	117.0					1																	186946790		2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186946790T>C	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1830T>C	1.37:g.186946790T>C						PLA2G4A_uc010pos.1_Silent_p.Y550Y	p.Y610Y	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2035	+			610			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1830T>C	CCDS1372.1																																																																																				PASS	0.413	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		9	66	9	66	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200946367	200946367	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:200946367T>A	ENST00000422435.2	-	31	4614	c.4298A>T	c.(4297-4299)aAt>aTt	p.N1433I	KIF21B_ENST00000461742.2_Missense_Mutation_p.N1433I|KIF21B_ENST00000360529.5_Missense_Mutation_p.N1420I|KIF21B_ENST00000332129.2_Missense_Mutation_p.N1420I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1433					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1420I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGACGGCATTGCCCGAGGC	0.637																																						uc001gvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4297-4299)AAT>ATT		kinesin family member 21B							126.0	116.0	119.0					1																	200946367		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200946367T>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4298A>T	1.37:g.200946367T>A	ENSP00000411831:p.Asn1433Ile					KIF21B_uc001gvr.1_Missense_Mutation_p.N1420I|KIF21B_uc009wzl.1_Missense_Mutation_p.N1433I|KIF21B_uc010ppn.1_Missense_Mutation_p.N1420I	p.N1433I	NM_017596	NP_060066	O75037	KI21B_HUMAN			31	4615	-			1433			WD 3.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4298A>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224770	0.58668	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	M	0.78916	2.43	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.05451	-1.0884	10	0.87932	D	0	.	14.4937	0.67670	0.0:0.0:0.0:1.0	.	1420;1433;1433;1420	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	I	1420;1420;1433;1433;1433	ENSP00000328494:N1420I;ENSP00000353724:N1420I;ENSP00000433808:N1433I;ENSP00000411831:N1433I	ENSP00000328494:N1420I	N	-	2	0	KIF21B	199212990	1.000000	0.71417	0.890000	0.34922	0.002000	0.02628	5.970000	0.70431	1.825000	0.53177	0.459000	0.35465	AAT		PASS	0.637	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		8	75	8	75	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202711560	202711560	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:202711560A>G	ENST00000367265.3	-	18	3712	c.2548T>C	c.(2548-2550)Tat>Cat	p.Y850H	KDM5B_ENST00000367264.2_Missense_Mutation_p.Y886H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	850					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y850H(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGAAGAGCATACAGCTGTGTT	0.433																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(2548-2550)TAT>CAT		jumonji, AT rich interactive domain 1B							154.0	141.0	145.0					1																	202711560		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202711560A>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2548T>C	1.37:g.202711560A>G	ENSP00000356234:p.Tyr850His					KDM5B_uc009xag.2_Missense_Mutation_p.Y886H|KDM5B_uc001gyg.1_Missense_Mutation_p.Y692H	p.Y850H	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			18	2664	-			850					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2548T>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556164	0.27827	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	T;T;T	0.42513	0.97;0.97;0.97	5.93	2.22	0.28083	Lysine-specific demethylase-like domain (1);	0.219872	0.49305	N	0.000158	T	0.26666	0.0652	L	0.31294	0.92	0.45005	D	0.998024	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.005	T	0.06734	-1.0810	10	0.15499	T	0.54	-3.6227	9.3197	0.37957	0.6253:0.0:0.3747:0.0	.	886;850	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	850;692;886;692;219	ENSP00000356234:Y850H;ENSP00000356233:Y886H;ENSP00000235790:Y692H	ENSP00000235790:Y692H	Y	-	1	0	KDM5B	200978183	0.963000	0.33076	0.940000	0.37924	0.958000	0.62258	2.478000	0.45189	0.117000	0.18138	0.460000	0.39030	TAT		PASS	0.433	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		12	78	12	78	---	---	---	---
PIGR	5284	broad.mit.edu	37	1	207107865	207107865	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:207107865G>T	ENST00000356495.4	-	6	1788	c.1605C>A	c.(1603-1605)acC>acA	p.T535T	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	535	Ig-like V-type 5.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.T535T(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCAGCCCTGGTCACCAGGT	0.612																																						uc001hez.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1603-1605)ACC>ACA		polymeric immunoglobulin receptor precursor							94.0	86.0	89.0					1																	207107865		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207107865G>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1605C>A	1.37:g.207107865G>T						PIGR_uc009xbz.2_Silent_p.T535T	p.T535T	NM_002644	NP_002635	P01833	PIGR_HUMAN			6	1789	-			535			Ig-like V-type 5.|Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1605C>A	CCDS1474.1																																																																																				PASS	0.612	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		14	62	14	62	---	---	---	---
PIGR	5284	broad.mit.edu	37	1	207107996	207107996	+	Nonsense_Mutation	SNP	C	C	A	rs538734889		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:207107996C>A	ENST00000356495.4	-	6	1657	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	492	Ig-like V-type 5.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.E492*(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGTATTTCTCGTACGAGGAG	0.562																																						uc001hez.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1474-1476)GAG>TAG		polymeric immunoglobulin receptor precursor							77.0	76.0	76.0					1																	207107996		2203	4300	6503	SO:0001587	stop_gained	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207107996C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1474G>T	1.37:g.207107996C>A	ENSP00000348888:p.Glu492*					PIGR_uc009xbz.2_Nonsense_Mutation_p.E492*	p.E492*	NM_002644	NP_002635	P01833	PIGR_HUMAN			6	1658	-			492			Ig-like V-type 5.|Extracellular (Potential).		Q68D81|Q8IZY7	Nonsense_Mutation	SNP	ENST00000356495.4	37	c.1474G>T	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046674	0.97231	.	.	ENSG00000162896	ENST00000356495	.	.	.	5.77	3.92	0.45320	.	0.333042	0.29486	N	0.012010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.0706	7.2223	0.25994	0.0:0.7128:0.1395:0.1477	.	.	.	.	X	492	.	ENSP00000348888:E492X	E	-	1	0	PIGR	205174619	0.010000	0.17322	0.453000	0.27007	0.434000	0.31775	-0.034000	0.12225	0.814000	0.34374	0.561000	0.74099	GAG		PASS	0.562	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		4	44	4	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848148	215848148	+	Missense_Mutation	SNP	C	C	A	rs375747222		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:215848148C>A	ENST00000307340.3	-	63	13491	c.13105G>T	c.(13105-13107)Gcc>Tcc	p.A4369S	USH2A_ENST00000366943.2_Missense_Mutation_p.A4369S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4369	Fibronectin type-III 29. {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.A4369S(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)		ATTTGAGTGGCACTGACGGCC	0.483										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13105-13107)GCC>TCC		usherin isoform B							53.0	55.0	54.0					1																	215848148		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848148C>A	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.13105G>T	1.37:g.215848148C>A	ENSP00000305941:p.Ala4369Ser	HNSCC(13;0.011)					p.A4369S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13492	-			4369			Extracellular (Potential).|Fibronectin type-III 29.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13105G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.290734	0.01375	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54675	0.56;0.56	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.180613	0.26457	U	0.024271	T	0.31295	0.0792	N	0.05351	-0.065	0.34037	D	0.654495	B	0.27910	0.193	B	0.34301	0.179	T	0.31223	-0.9951	10	0.02654	T	1	.	13.2434	0.60010	0.2948:0.7052:0.0:0.0	.	4369	O75445	USH2A_HUMAN	S	4369	ENSP00000305941:A4369S;ENSP00000355910:A4369S	ENSP00000305941:A4369S	A	-	1	0	USH2A	213914771	0.846000	0.29590	0.989000	0.46669	0.027000	0.11550	1.321000	0.33678	2.384000	0.81235	0.467000	0.42956	GCC		PASS	0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	22	22	22	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848713	215848713	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:215848713G>T	ENST00000307340.3	-	63	12926	c.12540C>A	c.(12538-12540)aaC>aaA	p.N4180K	USH2A_ENST00000366943.2_Missense_Mutation_p.N4180K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4180	Fibronectin type-III 27. {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.N4180K(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)		TTCCATTTGGGTTAACAGGCT	0.488										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12538-12540)AAC>AAA		usherin isoform B							94.0	94.0	94.0					1																	215848713		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848713G>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.12540C>A	1.37:g.215848713G>T	ENSP00000305941:p.Asn4180Lys	HNSCC(13;0.011)					p.N4180K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12927	-			4180			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12540C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	9.048	0.991424	0.18966	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	5.25	1.91	0.25777	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.442134	0.18571	N	0.137326	T	0.25232	0.0613	N	0.12853	0.265	0.22940	N	0.998532	B	0.09022	0.002	B	0.12156	0.007	T	0.09422	-1.0675	10	0.15952	T	0.53	.	1.977	0.03418	0.4212:0.0:0.3252:0.2536	.	4180	O75445	USH2A_HUMAN	K	4180	ENSP00000305941:N4180K;ENSP00000355910:N4180K	ENSP00000305941:N4180K	N	-	3	2	USH2A	213915336	0.994000	0.37717	0.050000	0.19076	0.994000	0.84299	0.748000	0.26305	0.593000	0.29745	0.650000	0.86243	AAC		PASS	0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		29	56	29	56	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216405331	216405331	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:216405331T>A	ENST00000307340.3	-	14	3343	c.2957A>T	c.(2956-2958)aAa>aTa	p.K986I	USH2A_ENST00000366943.2_Missense_Mutation_p.K986I|USH2A_ENST00000366942.3_Missense_Mutation_p.K986I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	986	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.K986I(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)		GTAATGGTCTTTGCATTGGTC	0.393										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2956-2958)AAA>ATA		usherin isoform B							148.0	141.0	143.0					1																	216405331		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216405331T>A	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.2957A>T	1.37:g.216405331T>A	ENSP00000305941:p.Lys986Ile	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.K986I	p.K986I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3344	-			986			Extracellular (Potential).|Laminin EGF-like 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2957A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691911	0.30052	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64085	-0.08;-0.08;-0.08	5.46	1.89	0.25635	EGF-like, laminin (3);	0.632453	0.13622	N	0.374322	T	0.64713	0.2623	M	0.66560	2.04	0.09310	N	1	B;P	0.47484	0.035;0.896	B;P	0.49192	0.062;0.602	T	0.53627	-0.8412	10	0.39692	T	0.17	.	9.1542	0.36983	0.0:0.2771:0.0:0.7229	.	986;986	O75445-2;O75445	.;USH2A_HUMAN	I	986	ENSP00000305941:K986I;ENSP00000355910:K986I;ENSP00000355909:K986I	ENSP00000305941:K986I	K	-	2	0	USH2A	214471954	0.955000	0.32602	0.000000	0.03702	0.926000	0.56050	0.198000	0.17217	0.071000	0.16664	-0.266000	0.10368	AAA		PASS	0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		21	137	21	137	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228437810	228437810	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:228437810G>T	ENST00000422127.1	+	14	4222	c.4178G>T	c.(4177-4179)aGc>aTc	p.S1393I	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S1393I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.S1485I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1393	Ig-like 14.|Poly-Ser.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.S1393I(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCTCCAGCTCGAAAGTT	0.672																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4177-4179)AGC>ATC		obscurin, cytoskeletal calmodulin and							76.0	83.0	80.0					1																	228437810		2091	4203	6294	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437810G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4178G>T	1.37:g.228437810G>T	ENSP00000409493:p.Ser1393Ile					OBSCN_uc001hsn.2_Missense_Mutation_p.S1393I	p.S1393I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			14	4222	+		Prostate(94;0.0405)	1393			Poly-Ser.|Ig-like 14.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4178G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.820106	0.32145	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.06371	3.31;3.31	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.968;0.992	T	0.21861	-1.0233	10	0.36615	T	0.2	.	18.7264	0.91716	0.0:0.0:1.0:0.0	.	1393;1393	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	1393	ENSP00000284548:S1393I;ENSP00000409493:S1393I	ENSP00000284548:S1393I	S	+	2	0	OBSCN	226504433	1.000000	0.71417	0.290000	0.24890	0.007000	0.05969	5.156000	0.64905	2.397000	0.81536	0.655000	0.94253	AGC		PASS	0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	84	6	84	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233507859	233507859	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:233507859G>T	ENST00000366624.3	+	6	1889	c.1628G>T	c.(1627-1629)aGt>aTt	p.S543I	MLK4_ENST00000366623.3_Missense_Mutation_p.S543I	NM_032435.2	NP_115811.2												p.S543I(1)									AGCAGTTCCAGTCCCCCGAGC	0.567																																						uc001hvt.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(1627-1629)AGT>ATT		mixed lineage kinase 4							91.0	87.0	88.0					1																	233507859		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233507859G>T																												ENST00000366624.3:c.1628G>T	1.37:g.233507859G>T	ENSP00000355583:p.Ser543Ile					KIAA1804_uc001hvs.1_Missense_Mutation_p.S543I	p.S543I	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			6	1889	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	543						Missense_Mutation	SNP	ENST00000366624.3	37	c.1628G>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698724	0.68501	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.14640	2.49;2.49	5.11	5.11	0.69529	.	0.134612	0.52532	D	0.000068	T	0.35885	0.0947	M	0.62088	1.915	0.80722	D	1	D;D	0.63046	0.992;0.991	D;D	0.67900	0.954;0.915	T	0.04551	-1.0943	10	0.72032	D	0.01	.	18.7231	0.91703	0.0:0.0:1.0:0.0	.	543;543	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	I	543	ENSP00000355582:S543I;ENSP00000355583:S543I	ENSP00000355582:S543I	S	+	2	0	RP5-862P8.2	231574482	1.000000	0.71417	0.888000	0.34837	0.654000	0.38779	4.937000	0.63513	2.654000	0.90174	0.650000	0.86243	AGT		PASS	0.567	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			5	45	5	45	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241901793	241901793	+	Splice_Site	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:241901793T>C	ENST00000366552.2	+	10	1498		c.e10+2		WDR64_ENST00000437684.2_Splice_Site	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64									p.?(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTATTACGGGTAAGTGTACCC	0.368																																						uc001hze.1																			2	Unknown(2)		lung(2)	skin(1)	1						c.e10+2		RecName: Full=WD repeat-containing protein 64;							94.0	87.0	89.0					1																	241901793		2203	4300	6503	SO:0001630	splice_region_variant	128025							g.chr1:241901793T>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1291+2T>C	1.37:g.241901793T>C						WDR64_uc001hzf.1_Splice_Site_p.G151_splice	p.G431_splice			B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		10	1498	+	Ovarian(103;0.103)	all_cancers(173;0.0121)						B1ANT0|Q7Z573|Q96LY9	Splice_Site	SNP	ENST00000366552.2	37	c.1291_splice		.	.	.	.	.	.	.	.	.	.	T	19.55	3.849613	0.71603	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1639	0.65464	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR64	239968416	1.000000	0.71417	0.992000	0.48379	0.817000	0.46193	3.243000	0.51392	2.326000	0.78906	0.533000	0.62120	.		PASS	0.368	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	Intron	7	27	7	27	---	---	---	---
ZNF670	93474	broad.mit.edu	37	1	247202712	247202712	+	Splice_Site	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:247202712C>A	ENST00000366503.2	-	2	289		c.e2+1			NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670						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.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTTATTCTTACCTACAGAAGC	0.473																																						uc001icd.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+1		zinc finger protein 670							98.0	92.0	94.0					1																	247202712		2203	4300	6503	SO:0001630	splice_region_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247202712C>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.130+1G>T	1.37:g.247202712C>A						ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.G44_splice	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		2	301	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)							Splice_Site	SNP	ENST00000366503.2	37	c.130_splice	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865794	0.17250	.	.	ENSG00000135747	ENST00000366503	.	.	.	0.46	0.46	0.16684	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF670	245269335	0.975000	0.34042	0.067000	0.19924	0.133000	0.20885	2.479000	0.45197	0.495000	0.27882	0.298000	0.19748	.		PASS	0.473	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	Intron	13	35	13	35	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419472	247419472	+	IGR	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:247419472T>A								RP11-488L18.8 (14347 upstream) : Y_RNA (38664 downstream)																							TTAATTTTCCTTCTAAGATGA	0.333																																						uc010pyu.1																			0					0						c.(97-99)CCT>CCA		vomeronasal 1 receptor 5							114.0	115.0	115.0					1																	247419472		1829	4083	5912	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419472T>A																													1.37:g.247419472T>A							p.P33P	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	99	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	33			Cytoplasmic (Potential).			Silent	SNP		37	c.99T>A																																																																																				0	PASS	0.333									7	58	7	58	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695176	247695176	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:247695176C>A	ENST00000366487.3	-	2	999	c.638G>T	c.(637-639)gGg>gTg	p.G213V	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212V(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGGATGAGCCCCAGAGGCAG	0.547																																						uc009xgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(637-639)GGG>GTG		olfactory receptor, family 2, subfamily C,							91.0	88.0	89.0					1																	247695176		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695176C>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.638G>T	1.37:g.247695176C>A	ENSP00000355443:p.Gly213Val					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.G213V	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1000	-	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;0.0242)	213			Helical; Name=5; (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.638G>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	3.978	-0.006981	0.07773	.	.	ENSG00000196242	ENST00000366487	T	0.34072	1.38	3.89	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.484707	0.15184	U	0.275933	T	0.13157	0.0319	N	0.02802	-0.49	0.09310	N	0.999996	B	0.12013	0.005	B	0.15484	0.013	T	0.27938	-1.0059	10	0.06236	T	0.91	.	9.0072	0.36120	0.401:0.599:0.0:0.0	.	213	Q8N628	OR2C3_HUMAN	V	213	ENSP00000355443:G213V	ENSP00000355443:G213V	G	-	2	0	OR2C3	245761799	0.000000	0.05858	0.871000	0.34182	0.774000	0.43823	0.103000	0.15292	0.951000	0.37770	0.650000	0.86243	GGG		PASS	0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		26	18	26	18	---	---	---	---
OR13G1	441933	broad.mit.edu	37	1	247835814	247835814	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:247835814T>A	ENST00000359688.2	-	1	551	c.530A>T	c.(529-531)gAg>gTg	p.E177V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E177V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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;0.017)			TGGGGGTATCTCACAGAAGAA	0.468																																						uc001idi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(529-531)GAG>GTG		olfactory receptor, family 13, subfamily G,							89.0	84.0	86.0					1																	247835814		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835814T>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.530A>T	1.37:g.247835814T>A	ENSP00000352717:p.Glu177Val						p.E177V	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	530	-	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)		177			Extracellular (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.530A>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016344	0.54468	.	.	ENSG00000197437	ENST00000359688	T	0.00224	8.51	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000461	T	0.00784	0.0026	H	0.94264	3.515	0.39773	D	0.972194	D	0.89917	1.0	D	0.87578	0.998	T	0.55062	-0.8199	10	0.87932	D	0	-39.2172	11.5555	0.50745	0.0:0.0:0.0:1.0	.	177	Q8NGZ3	O13G1_HUMAN	V	177	ENSP00000352717:E177V	ENSP00000352717:E177V	E	-	2	0	OR13G1	245902437	1.000000	0.71417	0.878000	0.34440	0.192000	0.23643	4.059000	0.57470	1.888000	0.54679	0.460000	0.39030	GAG		PASS	0.468	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		17	83	17	83	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343551	248343551	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:248343551C>A	ENST00000359682.2	+	1	264	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G88G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTGTCTGGCAGCAAGTCCA	0.478																																						uc010pzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(262-264)GGC>GGA		olfactory receptor, family 2, subfamily M,							211.0	218.0	216.0					1																	248343551		2203	4300	6503	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343551C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.264C>A	1.37:g.248343551C>A							p.G88G	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	264	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		88			Extracellular (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.264C>A	CCDS31106.1																																																																																				PASS	0.478	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		21	171	21	171	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366465	248366465	+	Silent	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:248366465G>C	ENST00000456743.1	+	1	134	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTGGTCCTGGCCATCTTTT	0.532																																						uc010pzg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(94-96)CTG>CTC		olfactory receptor, family 2, subfamily M,							210.0	212.0	211.0					1																	248366465		2203	4297	6500	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366465G>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.96G>C	1.37:g.248366465G>C							p.L32L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	96	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		32			Helical; Name=1; (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.96G>C	CCDS31107.1																																																																																				PASS	0.532	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		25	125	25	125	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525048	248525049	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:248525048_248525049CC>AT	ENST00000366475.1	+	1	166_167	c.166_167CC>AT	c.(166-168)CCa>ATa	p.P56I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P56I(1)|p.P56L(1)|p.P56T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCAAACATCCAGCACTACTT	0.485																																						uc001ieh.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(166-168)CCA>ACA|c.(166-168)CCA>CTA		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525048C>A|g.chr1:248525049C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	Exception_encountered	1.37:g.248525048_248525049delinsAT	ENSP00000355431:p.Pro56Ile						p.P56T|p.P56L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	166|167	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		56			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.166C>A|c.167C>T	CCDS31113.1																																																																																				PASS	0.485	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		15	102|103	15	102	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637406	248637406	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:248637406T>C	ENST00000359594.2	+	1	780	c.755T>C	c.(754-756)aTa>aCa	p.I252T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I252T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACATGATCATAGTGCTGCTG	0.547																																						uc001iel.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(754-756)ATA>ACA		olfactory receptor, family 2, subfamily T,							234.0	208.0	217.0					1																	248637406		2203	4300	6503	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637406T>C		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.755T>C	1.37:g.248637406T>C	ENSP00000352604:p.Ile252Thr						p.I252T	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	755	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		252			Helical; Name=6; (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.755T>C	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	t	6.237	0.411898	0.11812	.	.	ENSG00000196539	ENST00000359594	T	0.00145	8.67	2.37	-0.854	0.10705	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04018	-0.295	0.09310	N	1	B	0.22211	0.066	B	0.25759	0.063	T	0.08166	-1.0735	9	0.87932	D	0	.	6.0598	0.19832	0.0:0.4009:0.0:0.5991	.	252	Q8NH03	OR2T3_HUMAN	T	252	ENSP00000352604:I252T	ENSP00000352604:I252T	I	+	2	0	OR2T3	246704029	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.217000	0.17603	-0.130000	0.11599	-1.185000	0.01705	ATA		PASS	0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		42	111	42	111	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926334	1926334	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:1926334C>A	ENST00000399161.2	-	10	1954	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D403Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	403					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D403Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACACCCATCCTCCTTCGCA	0.582																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1207-1209)GAT>TAT		myelin transcription factor 1-like							60.0	61.0	61.0					2																	1926334		2148	4247	6395	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926334C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1207G>T	2.37:g.1926334C>A	ENSP00000382114:p.Asp403Tyr					MYT1L_uc002qxd.2_Missense_Mutation_p.D403Y|MYT1L_uc010ewl.1_RNA	p.D403Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2034	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	403					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1207G>T		.	.	.	.	.	.	.	.	.	.	C	11.78	1.742086	0.30865	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52295	0.67;0.67	5.97	5.97	0.96955	.	0.123662	0.53938	D	0.000050	T	0.41971	0.1182	L	0.29908	0.895	0.52501	D	0.99995	B;B	0.32526	0.257;0.374	B;B	0.30495	0.054;0.116	T	0.35325	-0.9793	10	0.72032	D	0.01	-47.9617	20.4388	0.99107	0.0:1.0:0.0:0.0	.	403;403	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	403;351;403	ENSP00000382114:D403Y;ENSP00000396103:D403Y	ENSP00000295067:D351Y	D	-	1	0	MYT1L	1905341	1.000000	0.71417	0.999000	0.59377	0.250000	0.25880	5.449000	0.66619	2.836000	0.97738	0.655000	0.94253	GAT		PASS	0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		7	50	7	50	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15374743	15374743	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:15374743C>A	ENST00000281513.5	-	46	6097	c.6072G>T	c.(6070-6072)gtG>gtT	p.V2024V	NBAS_ENST00000441750.1_Silent_p.V1904V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2024					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V2024V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAACTGCCACCTCTAGCA	0.433																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(6070-6072)GTG>GTT		neuroblastoma-amplified protein							100.0	95.0	96.0					2																	15374743		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15374743C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6072G>T	2.37:g.15374743C>A						NBAS_uc002rcb.1_5'UTR|NBAS_uc010exl.1_Silent_p.V1096V|NBAS_uc002rcd.1_RNA	p.V2024V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			46	6098	-			2024					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.6072G>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110405	0.20714	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.79	3.02	0.34903	.	.	.	.	.	T	0.46151	0.1378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	2.7611	0.05306	0.1281:0.54:0.1243:0.2076	.	.	.	.	L	1072	.	.	W	-	2	0	NBAS	15292194	0.982000	0.34865	0.998000	0.56505	0.990000	0.78478	0.131000	0.15870	0.799000	0.34018	0.650000	0.86243	TGG		PASS	0.433	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	29	6	29	---	---	---	---
CAD	790	broad.mit.edu	37	2	27454372	27454372	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:27454372C>T	ENST00000403525.1	+	15	2279	c.2135C>T	c.(2134-2136)gCc>gTc	p.A712V	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.A775V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A775V(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGGAGGCCTTCCAGAAG	0.547																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(2323-2325)GCC>GTC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						150.0	128.0	136.0					2																	27454372		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454372C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2135C>T	2.37:g.27454372C>T	ENSP00000384510:p.Ala712Val					CAD_uc010eyw.2_Missense_Mutation_p.A712V	p.A775V	NM_004341	NP_004332	P27708	PYR1_HUMAN			16	2486	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		775			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2324C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.449519	0.96205	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97404	-4.37;-4.37	5.37	5.37	0.77165	ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.99470	1.0945	10	0.66056	D	0.02	-0.9284	18.0198	0.89252	0.0:1.0:0.0:0.0	.	712;775	F8VPD4;P27708	.;PYR1_HUMAN	V	775;712	ENSP00000264705:A775V;ENSP00000384510:A712V	ENSP00000264705:A775V	A	+	2	0	CAD	27307876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.483000	0.60264	2.686000	0.91538	0.655000	0.94253	GCC		PASS	0.547	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			5	28	5	28	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27799968	27799968	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:27799968A>C	ENST00000408964.2	+	1	580	c.529A>C	c.(529-531)Aaa>Caa	p.K177Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	177						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.K177Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TACTGTAGAGAAATCTGTGGG	0.418																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(529-531)AAA>CAA		hypothetical protein LOC84226							74.0	69.0	71.0					2																	27799968		1870	4098	5968	SO:0001583	missense	84226							g.chr2:27799968A>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.529A>C	2.37:g.27799968A>C	ENSP00000386190:p.Lys177Gln						p.K177Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	580	+	Acute lymphoblastic leukemia(172;0.155)		177					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.529A>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086640	0.55861	.	.	ENSG00000221843	ENST00000408964	T	0.09163	3.01	3.61	3.61	0.41365	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.07290	-1.0780	9	0.56958	D	0.05	.	8.7587	0.34661	1.0:0.0:0.0:0.0	.	177	Q68DN1	CB016_HUMAN	Q	177	ENSP00000386190:K177Q	ENSP00000386190:K177Q	K	+	1	0	C2orf16	27653472	0.000000	0.05858	0.297000	0.24988	0.115000	0.19883	0.817000	0.27281	1.634000	0.50500	0.460000	0.39030	AAA		PASS	0.418	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		5	46	5	46	---	---	---	---
SUPT7L	9913	broad.mit.edu	37	2	27876565	27876565	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:27876565C>T	ENST00000337768.5	-	6	1601	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	SUPT7L_ENST00000406540.1_Missense_Mutation_p.M342I|SUPT7L_ENST00000464789.2_Missense_Mutation_p.M342I|SUPT7L_ENST00000404798.2_Missense_Mutation_p.M209I|SUPT7L_ENST00000405491.1_Missense_Mutation_p.M342I	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	344					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.M344I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTTGAGGCTCCATTTTCACAT	0.483																																						uc002rlh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1030-1032)ATG>ATA		SPTF-associated factor 65 gamma							180.0	176.0	177.0					2																	27876565		2011	4175	6186	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27876565C>T	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1032G>A	2.37:g.27876565C>T	ENSP00000336750:p.Met344Ile					SUPT7L_uc002rli.1_Missense_Mutation_p.M344I|SUPT7L_uc010ymf.1_Missense_Mutation_p.M209I|SUPT7L_uc002rlj.1_Missense_Mutation_p.M342I|SUPT7L_uc010ezh.1_Missense_Mutation_p.M342I	p.M344I	NM_014860	NP_055675	O94864	ST65G_HUMAN			6	1375	-	Acute lymphoblastic leukemia(172;0.155)		344					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.1032G>A	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002326	0.35320	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.96	4.91	0.64330	.	0.107861	0.85682	D	0.000000	T	0.42268	0.1195	N	0.14661	0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.25882	-1.0119	9	0.44086	T	0.13	-30.4893	16.0699	0.80919	0.0:0.9261:0.0:0.0739	.	209;342;344	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	I	344;342;342;342;209	.	ENSP00000336750:M344I	M	-	3	0	SUPT7L	27730069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.882000	0.56160	2.832000	0.97577	0.655000	0.94253	ATG		PASS	0.483	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		86	133	86	133	---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29404610	29404610	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:29404610G>A	ENST00000320081.5	+	16	2224	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.E657K|CLIP4_ENST00000481628.1_3'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	657	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.							p.E657K(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GCTTGGACTTGAGCTCCGAAG	0.537																																						uc002rmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1969-1971)GAG>AAG		CAP-GLY domain containing linker protein family,							121.0	113.0	116.0					2																	29404610		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29404610G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1969G>A	2.37:g.29404610G>A	ENSP00000327009:p.Glu657Lys					CLIP4_uc002rmw.2_RNA	p.E657K	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			16	2208	+	Acute lymphoblastic leukemia(172;0.155)		657			CAP-Gly 3.		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1969G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789529	0.96945	.	.	ENSG00000115295	ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	D;D	0.82711	-1.64;-1.64	5.69	5.69	0.88448	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.057008	0.64402	D	0.000001	D	0.91219	0.7233	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90306	0.4333	9	.	.	.	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	657	Q8N3C7	CLIP4_HUMAN	K	657;659;657;675;617	ENSP00000385594:E657K;ENSP00000327009:E657K	.	E	+	1	0	CLIP4	29258114	1.000000	0.71417	0.974000	0.42286	0.993000	0.82548	9.624000	0.98398	2.700000	0.92200	0.561000	0.74099	GAG		PASS	0.537	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		28	54	28	54	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44078879	44078879	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:44078879A>G	ENST00000272286.2	+	4	569	c.479A>G	c.(478-480)aAc>aGc	p.N160S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	160	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.N160S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGCTCCCCAACTTGACTGTG	0.602																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(478-480)AAC>AGC		ATP-binding cassette sub-family G member 8							123.0	117.0	119.0					2																	44078879		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078879A>G	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.479A>G	2.37:g.44078879A>G	ENSP00000272286:p.Asn160Ser					ABCG8_uc010yoa.1_Missense_Mutation_p.N160S	p.N160S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			4	569	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	160			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.479A>G	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274911	0.59649	.	.	ENSG00000143921	ENST00000272286	D	0.93712	-3.27	4.92	4.92	0.64577	ABC transporter-like (2);	0.096695	0.64402	D	0.000001	D	0.84065	0.5390	N	0.03253	-0.375	0.42599	D	0.993275	P;P	0.40230	0.659;0.708	B;B	0.38428	0.178;0.273	D	0.85926	0.1449	10	0.36615	T	0.2	.	14.5863	0.68328	1.0:0.0:0.0:0.0	.	160;160	Q9H221-2;Q9H221	.;ABCG8_HUMAN	S	160	ENSP00000272286:N160S	ENSP00000272286:N160S	N	+	2	0	ABCG8	43932383	1.000000	0.71417	0.981000	0.43875	0.484000	0.33280	6.840000	0.75369	1.852000	0.53769	0.533000	0.62120	AAC		PASS	0.602	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		10	83	10	83	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45616719	45616719	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:45616719G>T	ENST00000263736.4	-	21	2780	c.2718C>A	c.(2716-2718)ttC>ttA	p.F906L	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.F425L	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	906					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.F906L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGCTTCTCTTGAAATCAGGTT	0.353																																						uc002rus.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2716-2718)TTC>TTA		S1 RNA binding domain 1							49.0	47.0	48.0					2																	45616719		2203	4299	6502	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45616719G>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2718C>A	2.37:g.45616719G>T	ENSP00000263736:p.Phe906Leu					SRBD1_uc010yoc.1_Missense_Mutation_p.F425L	p.F906L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		21	2794	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	906					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2718C>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920678	0.52653	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.29655	1.92;1.56	3.9	1.12	0.20585	Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.17800	0.525	0.53688	D	0.999971	D	0.67145	0.996	P	0.60473	0.875	T	0.03249	-1.1056	10	0.19147	T	0.46	.	8.5045	0.33179	0.3184:0.0:0.6816:0.0	.	906	Q8N5C6	SRBD1_HUMAN	L	906;425	ENSP00000263736:F906L;ENSP00000441272:F425L	ENSP00000263736:F906L	F	-	3	2	SRBD1	45470223	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.776000	0.26704	0.241000	0.21283	-1.008000	0.02478	TTC		PASS	0.353	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		7	37	7	37	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61546343	61546343	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:61546343C>A	ENST00000398571.2	-	22	3209	c.3133G>T	c.(3133-3135)Ggt>Tgt	p.G1045C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1045					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G1045C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTTCCATACCCATAGCATGT	0.333																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(3133-3135)GGT>TGT		ubiquitin specific protease 34							126.0	116.0	119.0					2																	61546343		1854	4090	5944	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61546343C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3133G>T	2.37:g.61546343C>A	ENSP00000381577:p.Gly1045Cys						p.G1045C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		22	3155	-			1045					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3133G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793715	0.90453	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03689	3.84	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00468	-1.1721	10	0.46703	T	0.11	.	19.9987	0.97401	0.0:1.0:0.0:0.0	.	1045	Q70CQ2	UBP34_HUMAN	C	893;893;1045	ENSP00000381577:G1045C	ENSP00000263989:G893C	G	-	1	0	USP34	61399847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.738000	0.93877	0.591000	0.81541	GGT		PASS	0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	39	15	39	---	---	---	---
DCTN1	1639	broad.mit.edu	37	2	74593124	74593124	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:74593124C>T	ENST00000361874.3	-	24	3099	c.2782G>A	c.(2782-2784)Gct>Act	p.A928T	RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.A911T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A794T|DCTN1_ENST00000409567.3_Missense_Mutation_p.A908T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A794T|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Missense_Mutation_p.A921T|DCTN1_ENST00000409240.1_Missense_Mutation_p.A891T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	928					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.A928T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGGCAGCAGCCCGCAGTTCA	0.512																																						uc002skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2782-2784)GCT>ACT		dynactin 1 isoform 1							72.0	74.0	73.0					2																	74593124		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593124C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2782G>A	2.37:g.74593124C>T	ENSP00000354791:p.Ala928Thr					SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A794T|DCTN1_uc002sku.2_Missense_Mutation_p.A794T|DCTN1_uc002skw.1_Missense_Mutation_p.A904T|DCTN1_uc010ffd.2_Missense_Mutation_p.A908T|DCTN1_uc002sky.2_Missense_Mutation_p.A891T	p.A928T	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			24	3093	-			928					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2782G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851180	0.97023	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.69	5.69	0.88448	.	0.000000	0.43110	D	0.000620	D	0.90508	0.7026	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.993;1.0;0.999;0.996	D;D;D;D;D;D	0.79108	0.922;0.985;0.977;0.992;0.983;0.99	D	0.90967	0.4817	10	0.87932	D	0	-6.0781	18.5865	0.91191	0.0:1.0:0.0:0.0	.	908;891;928;921;794;794	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	T	928;921;911;794;794;891;911;908	ENSP00000354791:A928T;ENSP00000377571:A921T;ENSP00000384844:A794T;ENSP00000387270:A794T;ENSP00000386406:A891T;ENSP00000387327:A911T;ENSP00000386843:A908T	ENSP00000354791:A928T	A	-	1	0	DCTN1	74446632	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.662000	0.83803	2.681000	0.91329	0.561000	0.74099	GCT		PASS	0.512	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		21	25	21	25	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79384706	79384706	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:79384706C>T	ENST00000409839.3	-	5	488	c.452G>A	c.(451-453)aGa>aAa	p.R151K	REG3A_ENST00000393878.1_Missense_Mutation_p.R151K|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.R151K	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.R151K(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACCTGTGCTTCTCGACAGGCT	0.517																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)AGA>AAA		pancreatitis-associated protein precursor							104.0	106.0	106.0					2																	79384706		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384706C>T	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.452G>A	2.37:g.79384706C>T	ENSP00000386630:p.Arg151Lys					REG3A_uc002soe.1_Missense_Mutation_p.R151K|REG3A_uc002sof.1_Missense_Mutation_p.R151K	p.R151K	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	707	-			151			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.452G>A	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112469	0.20795	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18960	2.18;2.18;2.18	3.87	-2.03	0.07365	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.491390	0.04317	N	0.349975	T	0.12561	0.0305	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.23084	-1.0198	10	0.02654	T	1	.	4.1279	0.10136	0.0:0.2879:0.3365:0.3756	.	151	Q06141	REG3A_HUMAN	K	151	ENSP00000386630:R151K;ENSP00000377456:R151K;ENSP00000304311:R151K	ENSP00000304311:R151K	R	-	2	0	REG3A	79238214	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.156000	0.03160	-0.431000	0.07307	0.491000	0.48974	AGA		PASS	0.517	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		7	84	7	84	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80096942	80096942	+	Splice_Site	SNP	G	G	T	rs575691331		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:80096942G>T	ENST00000402739.4	+	4	471	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L	CTNNA2_ENST00000496558.1_Splice_Site_p.V156L|CTNNA2_ENST00000361291.4_Splice_Site_p.V190L|CTNNA2_ENST00000466387.1_Splice_Site_p.V156L|CTNNA2_ENST00000541047.1_Splice_Site_p.V156L|CTNNA2_ENST00000540488.1_Splice_Site_p.V156L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	156					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.V156L(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACCACTGCAGGTGGAAGAGGC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		16728	0.0		0.0	False		,,,				2504	0.001					uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(466-468)GTG>TTG		catenin, alpha 2 isoform 1							80.0	76.0	77.0					2																	80096942		1825	4091	5916	SO:0001630	splice_region_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80096942G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.466-1G>T	2.37:g.80096942G>T						CTNNA2_uc010yse.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysf.1_Missense_Mutation_p.V156L|CTNNA2_uc010ysg.1_Missense_Mutation_p.V156L	p.V156L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			4	471	+			156					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.466G>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.386299	0.61956	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	M	0.81239	2.535	0.80722	D	1	B;B;B	0.25772	0.02;0.134;0.134	B;B;B	0.28011	0.085;0.069;0.069	T	0.52983	-0.8502	9	.	.	.	.	19.9827	0.97334	0.0:0.0:1.0:0.0	.	156;156;156	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	156;156;190;156;156;156	ENSP00000418191:V156L;ENSP00000419295:V156L;ENSP00000355398:V190L;ENSP00000384638:V156L;ENSP00000444675:V156L;ENSP00000441705:V156L	.	V	+	1	0	CTNNA2	79950450	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.453000	0.97619	2.728000	0.93425	0.655000	0.94253	GTG		PASS	0.353	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	Missense_Mutation	18	52	18	52	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530054	80530054	+	Silent	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:80530054G>C	ENST00000295057.3	-	2	1547	c.891C>G	c.(889-891)ccC>ccG	p.P297P	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.P297P|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	297					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P297P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGAGGATCCGGGGCTCGATGT	0.622										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(889-891)CCC>CCG		leucine rich repeat transmembrane neuronal 1							56.0	55.0	55.0					2																	80530054		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530054G>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.891C>G	2.37:g.80530054G>C		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P297P	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1161	-			297			LRR 9.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.891C>G	CCDS1966.1																																																																																				PASS	0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		5	26	5	26	---	---	---	---
PTCD3	55037	broad.mit.edu	37	2	86359468	86359468	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:86359468G>A	ENST00000254630.7	+	17	1360	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	432					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.A432T(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCTAGAACTTGCCTACCAAGT	0.378																																						uc002sqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1294-1296)GCC>ACC		pentatricopeptide repeat domain 3 precursor							172.0	167.0	168.0					2																	86359468		2203	4300	6503	SO:0001583	missense	55037					mitochondrion	protein binding	g.chr2:86359468G>A		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1294G>A	2.37:g.86359468G>A	ENSP00000254630:p.Ala432Thr					PTCD3_uc002sqx.1_Missense_Mutation_p.A22T	p.A432T	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			17	1360	+			432			PPR 7.		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	c.1294G>A	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919369	0.92249	.	.	ENSG00000132300	ENST00000254630	T	0.41758	0.99	6.17	6.17	0.99709	.	0.094275	0.64402	D	0.000001	T	0.69415	0.3108	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.971;0.989	T	0.65463	-0.6162	10	0.31617	T	0.26	-11.3729	19.6509	0.95805	0.0:0.0:1.0:0.0	.	23;432	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	T	432	ENSP00000254630:A432T	ENSP00000254630:A432T	A	+	1	0	PTCD3	86212979	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	6.422000	0.73357	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.378	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		27	100	27	100	---	---	---	---
IGKV1-17	28937	broad.mit.edu	37	2	89416871	89416871	+	RNA	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:89416871A>C	ENST00000490686.1	-	0	339									immunoglobulin kappa variable 1-17																		TAAGTTGCAAAATCTTCAGGC	0.507																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							52.0	58.0	56.0					2																	89416871		1808	4035	5843			0							g.chr2:89416871A>C	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89416871A>C						uc002stl.2_Intron								42		-									RNA	SNP	ENST00000490686.1	37	c.4731T>G																																																																																					PASS	0.507	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		28	73	28	73	---	---	---	---
IGKV3D-20	28874	broad.mit.edu	37	2	90078209	90078209	+	RNA	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:90078209G>C	ENST00000390270.2	+	0	343									immunoglobulin kappa variable 3D-20																		TCCCAGACAGGTTCAGTGGCA	0.547																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							53.0	52.0	53.0					2																	90078209		1865	4106	5971			0							g.chr2:90078209G>C	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078209G>C														14		+									RNA	SNP	ENST00000390270.2	37	c.1599G>C																																																																																					PASS	0.547	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		18	42	18	42	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108608572	108608572	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:108608572C>T	ENST00000264047.2	+	3	465	c.189C>T	c.(187-189)gtC>gtT	p.V63V	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Silent_p.V63V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	63					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.V63V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTACCTGGGTCGGAGGAGGGT	0.458																																						uc002tdv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(187-189)GTC>GTT		solute carrier family 5 (choline transporter),	Choline(DB00122)						153.0	131.0	138.0					2																	108608572		2203	4300	6503	SO:0001819	synonymous_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108608572C>T	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.189C>T	2.37:g.108608572C>T						SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Silent_p.V63V|SLC5A7_uc010ywn.1_5'UTR	p.V63V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			3	465	+			63			Helical; (Potential).		Q53TF2	Silent	SNP	ENST00000264047.2	37	c.189C>T	CCDS2074.1																																																																																				PASS	0.458	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			20	38	20	38	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121708906	121708906	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:121708906C>T	ENST00000452319.1	+	4	402	c.342C>T	c.(340-342)ccC>ccT	p.P114P	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.P114P|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2									p.P114P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGGAGTCCCCCTTCAACGCCC	0.657																																						uc010flp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(340-342)CCC>CCT		GLI-Kruppel family member GLI2							65.0	71.0	69.0					2																	121708906		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708906C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.342C>T	2.37:g.121708906C>T						GLI2_uc010yyu.1_Silent_p.P114P|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Silent_p.P114P	p.P114P	NM_005270	NP_005261	P10070	GLI2_HUMAN			3	372	+	Renal(3;0.0496)	Prostate(154;0.0623)	114						Silent	SNP	ENST00000452319.1	37	c.342C>T	CCDS33283.1																																																																																				PASS	0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		12	32	12	32	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141245278	141245278	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:141245278C>A	ENST00000389484.3	-	58	10122	c.9151G>T	c.(9151-9153)Gat>Tat	p.D3051Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3051					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3051Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTCTGTAATCAAAGTCTATA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9151-9153)GAT>TAT		low density lipoprotein-related protein 1B							74.0	77.0	76.0					2																	141245278		2202	4297	6499	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245278C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9151G>T	2.37:g.141245278C>A	ENSP00000374135:p.Asp3051Tyr	TSP Lung(27;0.18)					p.D3051Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	58	10123	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3051			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9151G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851509	0.91355	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92752	-3.1	5.61	5.61	0.85477	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.96383	0.8820	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.96565	0.9418	10	0.87932	D	0	.	19.6408	0.95757	0.0:1.0:0.0:0.0	.	3051	Q9NZR2	LRP1B_HUMAN	Y	3051;2989	ENSP00000374135:D3051Y	ENSP00000374135:D3051Y	D	-	1	0	LRP1B	140961748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.998000	0.70653	2.643000	0.89663	0.650000	0.86243	GAT		PASS	0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		10	27	10	27	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141260667	141260667	+	Silent	SNP	G	G	T	rs529890891	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:141260667G>T	ENST00000389484.3	-	54	9498	c.8527C>A	c.(8527-8529)Cga>Aga	p.R2843R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2843					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2843R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACACTGTCGATATCCTAGA	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8527-8529)CGA>AGA		low density lipoprotein-related protein 1B							119.0	111.0	113.0					2																	141260667		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141260667G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8527C>A	2.37:g.141260667G>T		TSP Lung(27;0.18)					p.R2843R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	54	9499	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2843			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8527C>A	CCDS2182.1																																																																																				PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	27	9	27	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141806660	141806660	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:141806660C>T	ENST00000389484.3	-	11	2655	c.1684G>A	c.(1684-1686)Gac>Aac	p.D562N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	562					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D562N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCGTGAAAGTCTAAAGCACGA	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1684-1686)GAC>AAC		low density lipoprotein-related protein 1B							210.0	199.0	203.0					2																	141806660		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806660C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1684G>A	2.37:g.141806660C>T	ENSP00000374135:p.Asp562Asn	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.D562N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2656	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	562			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1684G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642776	0.67244	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.39	5.39	0.77823	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.96688	0.8919	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.97017	0.9740	10	0.66056	D	0.02	.	19.1443	0.93458	0.0:1.0:0.0:0.0	.	562	Q9NZR2	LRP1B_HUMAN	N	562;500	ENSP00000374135:D562N	ENSP00000374135:D562N	D	-	1	0	LRP1B	141523130	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.710000	0.84655	2.508000	0.84585	0.563000	0.77884	GAC		PASS	0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	89	14	89	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157345	145157345	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:145157345G>T	ENST00000558170.2	-	8	2593	c.1409C>A	c.(1408-1410)aCt>aAt	p.T470N	ZEB2_ENST00000539609.3_Missense_Mutation_p.T446N|ZEB2_ENST00000409487.3_Missense_Mutation_p.T470N|ZEB2_ENST00000303660.4_Missense_Mutation_p.T470N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	470	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.T470N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTGGAAACAGTATTGTCCAC	0.418																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1408-1410)ACT>AAT		zinc finger homeobox 1b							97.0	98.0	98.0					2																	145157345		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157345G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1409C>A	2.37:g.145157345G>T	ENSP00000454157:p.Thr470Asn					ZEB2_uc002tvv.2_Missense_Mutation_p.T464N|ZEB2_uc010zbm.1_Missense_Mutation_p.T441N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T499N	p.T470N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1889	-			470			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1409C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302818	0.23736	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	N	0.20845	0.615	0.80722	D	1	P;D;D;D	0.71674	0.542;0.998;0.998;0.99	B;D;D;D	0.79108	0.327;0.987;0.981;0.992	T	0.76260	-0.3024	10	0.10636	T	0.68	-8.0941	19.4645	0.94932	0.0:0.0:1.0:0.0	.	446;335;469;470	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	N	446;470;470;470	ENSP00000443792:T446N;ENSP00000302501:T470N;ENSP00000386854:T470N;ENSP00000395496:T470N	ENSP00000302501:T470N	T	-	2	0	ZEB2	144873815	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.864000	0.99589	2.587000	0.87381	0.655000	0.94253	ACT		PASS	0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	53	9	53	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149227994	149227994	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:149227994A>T	ENST00000407073.1	+	9	3479	c.2482A>T	c.(2482-2484)Att>Ttt	p.I828F	MBD5_ENST00000404807.1_Missense_Mutation_p.I828F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	828					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.I828F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACCAAACAGCATTGTTAGCAG	0.378																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2482-2484)ATT>TTT		methyl-CpG binding domain protein 5							64.0	63.0	64.0					2																	149227994		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227994A>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2482A>T	2.37:g.149227994A>T	ENSP00000386049:p.Ile828Phe					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.I828F|MBD5_uc002twn.1_Missense_Mutation_p.I269F	p.I828F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3470	+			828					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2482A>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449737	0.43531	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.46063	0.88;0.88	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000012	T	0.37544	0.1007	N	0.19112	0.55	0.43536	D	0.995828	D;D	0.64830	0.982;0.994	B;P	0.50049	0.25;0.629	T	0.35051	-0.9804	10	0.72032	D	0.01	-7.2729	13.2826	0.60224	1.0:0.0:0.0:0.0	.	828;828	Q9P267-2;Q9P267	.;MBD5_HUMAN	F	828	ENSP00000386049:I828F;ENSP00000384672:I828F	ENSP00000384672:I828F	I	+	1	0	MBD5	148944464	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.909000	0.56363	2.131000	0.65755	0.533000	0.62120	ATT		PASS	0.378	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			5	30	5	30	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152385743	152385743	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:152385743G>T	ENST00000172853.10	-	118	16760	c.16613C>A	c.(16612-16614)gCc>gAc	p.A5538D	NEB_ENST00000397345.3_Missense_Mutation_p.A7239D|NEB_ENST00000427231.2_Missense_Mutation_p.A7239D|NEB_ENST00000409198.1_Missense_Mutation_p.A5538D|NEB_ENST00000604864.1_Missense_Mutation_p.A7239D|NEB_ENST00000603639.1_Missense_Mutation_p.A7239D			P20929	NEBU_HUMAN	nebulin	5538					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.A7239D(1)|p.A5538D(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACTTTGTAGGCGTCCTTGGC	0.438																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(16612-16614)GCC>GAC		nebulin isoform 3							223.0	213.0	216.0					2																	152385743		1941	4142	6083	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152385743G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16613C>A	2.37:g.152385743G>T	ENSP00000172853:p.Ala5538Asp					NEB_uc002txr.2_Missense_Mutation_p.A1961D|NEB_uc002txt.3_Missense_Mutation_p.A43D	p.A5538D	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	118	16804	-			5538			Nebulin 151.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16613C>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.166890	0.78339	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.994	T	0.66337	-0.5949	10	0.54805	T	0.06	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	5538;7239;1969	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	D	5538;7239;7239;1587;1969;5538	ENSP00000386259:A5538D;ENSP00000380505:A7239D;ENSP00000416578:A7239D;ENSP00000410961:A1969D;ENSP00000172853:A5538D	ENSP00000172853:A5538D	A	-	2	0	NEB	152093989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.804000	0.99143	2.741000	0.93983	0.650000	0.86243	GCC		PASS	0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	49	10	49	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152402505	152402505	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:152402505T>A	ENST00000172853.10	-	107	15518	c.15371A>T	c.(15370-15372)tAc>tTc	p.Y5124F	NEB_ENST00000397345.3_Missense_Mutation_p.Y6825F|NEB_ENST00000427231.2_Missense_Mutation_p.Y6825F|NEB_ENST00000409198.1_Missense_Mutation_p.Y5124F|NEB_ENST00000604864.1_Missense_Mutation_p.Y6825F|NEB_ENST00000603639.1_Missense_Mutation_p.Y6825F			P20929	NEBU_HUMAN	nebulin	5124					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Y6825F(1)|p.Y5124F(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTGTATAGGTAATTAGACTT	0.338																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15370-15372)TAC>TTC		nebulin isoform 3							100.0	87.0	91.0					2																	152402505		1845	4082	5927	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152402505T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15371A>T	2.37:g.152402505T>A	ENSP00000172853:p.Tyr5124Phe					NEB_uc002txr.2_Missense_Mutation_p.Y1547F	p.Y5124F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	107	15562	-			5124					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15371A>T		.	.	.	.	.	.	.	.	.	.	T	17.92	3.507848	0.64410	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.06	6.06	0.98353	.	0.222753	0.39759	N	0.001275	T	0.48857	0.1523	L	0.36672	1.1	0.80722	D	1	D;D	0.67145	0.996;0.975	D;D	0.67231	0.95;0.946	T	0.36529	-0.9744	10	0.11794	T	0.64	.	12.4549	0.55697	0.0:0.0:0.1395:0.8605	.	5124;1555	P20929;Q14215	NEBU_HUMAN;.	F	5124;6825;6825;1173;1555;5124	ENSP00000386259:Y5124F;ENSP00000380505:Y6825F;ENSP00000416578:Y6825F;ENSP00000410961:Y1555F;ENSP00000172853:Y5124F	ENSP00000172853:Y5124F	Y	-	2	0	NEB	152110751	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.303000	0.43646	2.324000	0.78689	0.533000	0.62120	TAC		PASS	0.338	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	4	3	4	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848156	166848156	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:166848156C>T	ENST00000303395.4	-	26	5628	c.5629G>A	c.(5629-5631)Gga>Aga	p.G1877R	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1866R|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1877R|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G1849R			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1877					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.G1866R(1)|p.G1877R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACTCTCTCCTAGAACCCGC	0.458																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5596-5598)GGA>AGA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						84.0	78.0	80.0					2																	166848156		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848156C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5629G>A	2.37:g.166848156C>T	ENSP00000303540:p.Gly1877Arg						p.G1866R	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5614	-			1877					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5596G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875983	0.91664	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96940	-4.18;-4.18;-4.13;-4.11	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	D	0.98548	0.9515	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99126	1.0851	10	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	1866	P35498-2	.	R	1877;1877;1866;1849	ENSP00000407030:G1877R;ENSP00000303540:G1877R;ENSP00000364554:G1866R;ENSP00000386312:G1849R	ENSP00000303540:G1877R	G	-	1	0	SCN1A	166556402	1.000000	0.71417	0.681000	0.30009	0.995000	0.86356	7.773000	0.85462	2.788000	0.95919	0.650000	0.86243	GGA		PASS	0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		19	46	19	46	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	167760089	167760089	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:167760089T>A	ENST00000409728.1	+	2	186	c.97T>A	c.(97-99)Tgt>Agt	p.C33S	XIRP2_ENST00000420519.1_Missense_Mutation_p.C33S|XIRP2_ENST00000409756.2_Missense_Mutation_p.C33S|XIRP2_ENST00000409195.1_Missense_Mutation_p.C33S|XIRP2_ENST00000295237.9_Missense_Mutation_p.C33S|XIRP2_ENST00000409043.1_Missense_Mutation_p.C33S	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2430					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.C33S(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGACAGCCATTGTACAATTTT	0.488																																						uc002udx.2																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(97-99)TGT>AGT		xin actin-binding repeat containing 2 isoform 1							68.0	66.0	67.0					2																	167760089		1931	4135	6066	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760089T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.97T>A	2.37:g.167760089T>A	ENSP00000386619:p.Cys33Ser					XIRP2_uc010fpn.2_Missense_Mutation_p.C33S|XIRP2_uc010fpo.2_Missense_Mutation_p.C33S|XIRP2_uc010fpp.2_Missense_Mutation_p.C33S	p.C33S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			1	115	+			Error:Variant_position_missing_in_A4UGR9_after_alignment					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.97T>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	6.930	0.541239	0.13250	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.81659	-1.51;-1.52;3.86;-1.51;-1.52;3.86	5.36	1.56	0.23342	.	.	.	.	.	T	0.69424	0.3109	.	.	.	0.09310	N	1	B;B	0.19583	0.037;0.037	B;B	0.19946	0.027;0.027	T	0.58498	-0.7626	8	0.56958	D	0.05	-0.0186	5.5274	0.16964	0.2865:0.0:0.1563:0.5572	.	33;33	A4UGR9-4;A4UGR9-6	.;.	S	33	ENSP00000386454:C33S;ENSP00000386619:C33S;ENSP00000386840:C33S;ENSP00000386724:C33S;ENSP00000415541:C33S;ENSP00000295237:C33S	ENSP00000295237:C33S	C	+	1	0	XIRP2	167468335	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.043000	0.30316	0.024000	0.15214	-1.273000	0.01405	TGT		PASS	0.488	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		4	27	4	27	---	---	---	---
CERS6	253782	broad.mit.edu	37	2	169626093	169626093	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:169626093C>A	ENST00000305747.6	+	10	1663	c.1076C>A	c.(1075-1077)cCc>cAc	p.P359H	CERS6-AS1_ENST00000425636.2_RNA|CERS6_ENST00000392687.4_Missense_Mutation_p.P367H	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	359					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.P359H(1)									GGAAAGAATCCCCACACTGCG	0.493																																						uc002ueb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1075-1077)CCC>CAC		longevity assurance homolog 6							105.0	101.0	102.0					2																	169626093		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169626093C>A	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.1076C>A	2.37:g.169626093C>A	ENSP00000306579:p.Pro359His					LASS6_uc002uec.1_Missense_Mutation_p.P367H	p.P359H	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN			10	1200	+			359			Cytoplasmic (Potential).		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.1076C>A	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107402	0.37145	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.11821	2.92;2.74	5.97	5.04	0.67666	.	0.349878	0.35067	N	0.003472	T	0.07683	0.0193	N	0.10664	0.02	0.36118	D	0.845268	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.18398	-1.0338	10	0.42905	T	0.14	-0.2453	11.8411	0.52355	0.0:0.8085:0.1238:0.0678	.	367;359	Q32M63;Q6ZMG9	.;CERS6_HUMAN	H	359;367	ENSP00000306579:P359H;ENSP00000376453:P367H	ENSP00000306579:P359H	P	+	2	0	CERS6	169334339	0.000000	0.05858	0.445000	0.26908	0.972000	0.66771	0.463000	0.21972	2.831000	0.97527	0.655000	0.94253	CCC		PASS	0.493	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		6	45	6	45	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170175293	170175293	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:170175293A>T	ENST00000263816.3	-	3	574	c.289T>A	c.(289-291)Tca>Aca	p.S97T	LRP2_ENST00000443831.1_Missense_Mutation_p.S97T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	97	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S97T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CGTTCATCTGAGCCATCATCA	0.478																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(289-291)TCA>ACA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						148.0	125.0	132.0					2																	170175293		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170175293A>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.289T>A	2.37:g.170175293A>T	ENSP00000263816:p.Ser97Thr					LRP2_uc010zdf.1_Missense_Mutation_p.S97T	p.S97T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	3	502	-			97			LDL-receptor class A 2.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.289T>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150653	0.57151	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97752	-4.52;-4.52	5.89	3.46	0.39613	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.070231	0.64402	D	0.000012	D	0.97682	0.9240	M	0.69185	2.1	0.40880	D	0.983985	D;P	0.53462	0.96;0.918	P;B	0.57152	0.814;0.438	D	0.96573	0.9424	9	.	.	.	.	12.7869	0.57512	0.7323:0.2676:0.0:0.0	.	97;97	E9PC35;P98164	.;LRP2_HUMAN	T	97	ENSP00000263816:S97T;ENSP00000409813:S97T	.	S	-	1	0	LRP2	169883539	1.000000	0.71417	0.987000	0.45799	0.161000	0.22273	3.624000	0.54231	0.461000	0.27071	0.460000	0.39030	TCA		PASS	0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		9	61	9	61	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098804	178098804	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:178098804C>T	ENST00000397062.3	-	2	795	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65S|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65S|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65S|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65S	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81S(2)|p.G81_F83delGEF(1)|p.G81C(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGAAATTCACCTGTCTCTTCA	0.438			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		4	Substitution - Missense(3)|Deletion - In frame(1)		lung(2)|liver(1)|endometrium(1)	central_nervous_system(1)	1						c.(241-243)GGT>AGT		nuclear factor erythroid 2-like 2 isoform 1							143.0	142.0	142.0					2																	178098804		1901	4105	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098804C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.241G>A	2.37:g.178098804C>T	ENSP00000380252:p.Gly81Ser	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.G65S|NFE2L2_uc010zfa.1_Missense_Mutation_p.G65S|NFE2L2_uc002uli.3_Missense_Mutation_p.G65S|NFE2L2_uc010fra.2_Missense_Mutation_p.G65S|NFE2L2_uc010frb.2_Missense_Mutation_p.G65S	p.G81S	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	796	-			81					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.241G>A	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.986306|3.986306	0.74589|0.74589	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T|T;T;T;T;T;T	0.29397|0.52057	1.57|1.22;1.22;1.22;0.68;0.68;1.22	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.998;1.0;0.999	T|T	0.78275|0.78275	-0.2267|-0.2267	7|10	0.23891|0.72032	T|D	0.37|0.01	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	T|S	65|65;81;65;65;65;65	ENSP00000391590:A65T|ENSP00000380253:G65S;ENSP00000380252:G81S;ENSP00000411575:G65S;ENSP00000400073:G65S;ENSP00000412191:G65S;ENSP00000410015:G65S	ENSP00000391590:A65T|ENSP00000380252:G81S	A|G	-|-	1|1	0|0	NFE2L2|NFE2L2	177807050|177807050	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.995000|0.995000	0.86356|0.86356	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	GCA|GGT		PASS	0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		12	29	12	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179426284	179426284	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179426284T>C	ENST00000591111.1	-	276	79876	c.79652A>G	c.(79651-79653)gAg>gGg	p.E26551G	TTN_ENST00000589042.1_Missense_Mutation_p.E28192G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25624G|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19319G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19252G|TTN_ENST00000460472.2_Missense_Mutation_p.E19127G|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26551	Fibronectin type-III 93. {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.E25622G(1)|p.E25624G(1)|p.E19127G(1)|p.E19319G(1)|p.E19252G(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)			TTCTTTATACTCAAGATGATA	0.403																																						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.(76870-76872)GAG>GGG		titin isoform N2-A							84.0	76.0	79.0					2																	179426284		1894	4105	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426284T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79652A>G	2.37:g.179426284T>C	ENSP00000465570:p.Glu26551Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19319G|TTN_uc010zfi.1_Missense_Mutation_p.E19252G|TTN_uc010zfj.1_Missense_Mutation_p.E19127G	p.E25624G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77095	-			26551					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.76871A>G		.	.	.	.	.	.	.	.	.	.	T	14.13	2.443532	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85831	0.5788	H	0.98426	4.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91331	0.5090	9	0.87932	D	0	.	16.5149	0.84297	0.0:0.0:0.0:1.0	.	19127;19252;19319;26551	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	25624;19127;19319;19252;19125	ENSP00000343764:E25624G;ENSP00000434586:E19127G;ENSP00000340554:E19319G;ENSP00000352154:E19252G	ENSP00000340554:E19319G	E	-	2	0	TTN	179134530	1.000000	0.71417	0.945000	0.38365	0.997000	0.91878	8.040000	0.89188	2.302000	0.77476	0.477000	0.44152	GAG		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	25	7	25	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179472319C>T	ENST00000591111.1	-	227	48397	c.48173G>A	c.(48172-48174)cGc>cAc	p.R16058H	TTN_ENST00000589042.1_Missense_Mutation_p.R17699H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15131H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8826H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8759H|TTN_ENST00000460472.2_Missense_Mutation_p.R8634H			Q8WZ42	TITIN_HUMAN	titin	16058	Ig-like 99.		R -> H. {ECO:0000269|PubMed:17344846}.		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.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(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)			AGGTACAGGGCGACCAGTCAC	0.448													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		16817	0.0		0.003	False		,,,				2504	0.001					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.(45391-45393)CGC>CAC		titin isoform N2-A		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,3750		0,2,1874	281.0	266.0	271.0		25901,45392,26276,26477	6.0	1.0	2	dbSNP_130	271	25,8189		0,25,4082	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,27,5956	TT,TC,CC		0.3044,0.0533,0.2256	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8634/26927,15131/33424,8759/27052,8826/27119	179472319	27,11939	1876	4107	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472319C>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.48173G>A	2.37:g.179472319C>T	ENSP00000465570:p.Arg16058His					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826H|TTN_uc010zfi.1_Missense_Mutation_p.R8759H|TTN_uc010zfj.1_Missense_Mutation_p.R8634H	p.R15131H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	45616	-			16058					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.45392G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.60	1.987804	0.35036	5.33E-4	0.003044	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77054	0.4074	L	0.35723	1.085	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.971;0.971;0.971;0.984	T	0.77621	-0.2519	9	0.87932	D	0	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	8634;8759;8826;16058	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	15131;8634;8826;8759;8634	ENSP00000343764:R15131H;ENSP00000434586:R8634H;ENSP00000340554:R8826H;ENSP00000352154:R8759H	ENSP00000340554:R8826H	R	-	2	0	TTN	179180564	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	4.428000	0.59894	2.840000	0.97914	0.655000	0.94253	CGC		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	161	24	161	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179553856	179553856	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179553856A>T	ENST00000591111.1	-	123	31292	c.31068T>A	c.(31066-31068)gcT>gcA	p.A10356A	TTN_ENST00000589042.1_Silent_p.A10673A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.A9429A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.A9429A(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)			TCTTAGGCAGAGCTGGCACTT	0.458																																						uc010zfg.1																			1	Substitution - coding silent(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.(28285-28287)GCT>GCA		titin isoform N2-A							80.0	81.0	81.0					2																	179553856		1864	4094	5958	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179553856A>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.31068T>A	2.37:g.179553856A>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A6090A|TTN_uc010fre.1_Silent_p.A540A	p.A9429A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		122	28511	-			10356					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.28287T>A																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	51	8	51	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179581848	179581848	+	Missense_Mutation	SNP	G	G	T	rs375170912		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179581848G>T	ENST00000591111.1	-	86	24886	c.24662C>A	c.(24661-24663)tCt>tAt	p.S8221Y	TTN_ENST00000589042.1_Missense_Mutation_p.S8538Y|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7294Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12401	Ig-like 64.				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.S7294Y(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)			AGCAGAACAAGAGTCTTTTCC	0.448																																						uc010zfg.1																			1	Substitution - Missense(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.(21880-21882)TCT>TAT		titin isoform N2-A							58.0	57.0	57.0					2																	179581848		1920	4132	6052	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581848G>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.24662C>A	2.37:g.179581848G>T	ENSP00000465570:p.Ser8221Tyr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3955Y	p.S7294Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	22105	-			8221					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.21881C>A		.	.	.	.	.	.	.	.	.	.	G	10.39	1.335895	0.24253	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.42	5.42	0.78866	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83257	0.5215	M	0.84683	2.71	0.80722	D	1	D	0.69078	0.997	D	0.62955	0.909	D	0.85713	0.1320	9	0.87932	D	0	.	19.5771	0.95449	0.0:0.0:1.0:0.0	.	8221	Q8WZ42	TITIN_HUMAN	Y	7294	ENSP00000343764:S7294Y	ENSP00000343764:S7294Y	S	-	2	0	TTN	179290093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.191000	0.58372	2.687000	0.91594	0.655000	0.94253	TCT		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	26	7	26	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590510	179590510	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179590510T>C	ENST00000591111.1	-	68	19812	c.19588A>G	c.(19588-19590)Act>Gct	p.T6530A	TTN_ENST00000589042.1_Missense_Mutation_p.T6847A|TTN_ENST00000342992.6_Missense_Mutation_p.T5603A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12129	Ig-like 46.				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.T5603A(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)			AATTTTACAGTACAAACACAA	0.378																																						uc010zfg.1																			1	Substitution - Missense(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.(16807-16809)ACT>GCT		titin isoform N2-A							165.0	162.0	163.0					2																	179590510		1886	4121	6007	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590510T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19588A>G	2.37:g.179590510T>C	ENSP00000465570:p.Thr6530Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2264A	p.T5603A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		67	17031	-			6530					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.16807A>G		.	.	.	.	.	.	.	.	.	.	T	6.506	0.461551	0.12342	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.87	-1.29	0.09288	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54159	0.1841	L	0.49350	1.555	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.50882	-0.8775	9	0.87932	D	0	.	4.0155	0.09642	0.2322:0.2115:0.0:0.5562	.	6530	Q8WZ42	TITIN_HUMAN	A	5603	ENSP00000343764:T5603A	ENSP00000343764:T5603A	T	-	1	0	TTN	179298755	0.039000	0.19947	0.006000	0.13384	0.655000	0.38815	0.974000	0.29436	-0.051000	0.13334	-0.408000	0.06270	ACT		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	73	7	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179598616	179598616	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179598616G>T	ENST00000591111.1	-	51	14773	c.14549C>A	c.(14548-14550)cCt>cAt	p.P4850H	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5167H|TTN_ENST00000342992.6_Missense_Mutation_p.P3923H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12233					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.P3923H(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)			AAAGGTTGGAGGTTCTAGTTA	0.368																																						uc010zfg.1																			1	Substitution - Missense(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.(11767-11769)CCT>CAT		titin isoform N2-A							50.0	47.0	48.0					2																	179598616		1870	4101	5971	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598616G>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.14549C>A	2.37:g.179598616G>T	ENSP00000465570:p.Pro4850His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P584H	p.P3923H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	11992	-			4850					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.11768C>A		.	.	.	.	.	.	.	.	.	.	G	13.20	2.165242	0.38217	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	5.99	5.99	0.97316	Ribonuclease H-like (1);	.	.	.	.	D	0.86335	0.5908	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87787	0.2616	9	0.87932	D	0	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	4850	Q8WZ42	TITIN_HUMAN	H	3923	ENSP00000343764:P3923H	ENSP00000343764:P3923H	P	-	2	0	TTN	179306861	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.395000	0.97266	2.840000	0.97914	0.655000	0.94253	CCT		PASS	0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	32	12	32	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616020	179616020	+	Intron	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:179616020G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.Q3703K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTAAACGTTGCAACTTCACT	0.343																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11107-11109)CAA>AAA		titin isoform novex-3							95.0	93.0	94.0					2																	179616020		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616020G>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.10360+1830C>A	2.37:g.179616020G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.Q3703K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11331	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11107C>A		.	.	.	.	.	.	.	.	.	.	G	10.77	1.445291	0.25987	.	.	ENSG00000155657	ENST00000360870	T	0.59502	0.26	5.87	4.05	0.47172	.	.	.	.	.	T	0.34745	0.0908	N	0.24115	0.695	0.80722	D	1	B	0.31548	0.328	B	0.28011	0.085	T	0.15378	-1.0439	9	0.05721	T	0.95	.	8.8449	0.35164	0.0683:0.0:0.6651:0.2666	.	3703	Q8WZ42-6	.	K	3703	ENSP00000354117:Q3703K	ENSP00000354117:Q3703K	Q	-	1	0	TTN	179324265	1.000000	0.71417	0.691000	0.30163	0.895000	0.52256	3.880000	0.56145	0.906000	0.36621	0.655000	0.94253	CAA		PASS	0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	51	11	51	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815259	180815259	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:180815259C>A	ENST00000410053.3	-	19	2419	c.2120G>T	c.(2119-2121)aGt>aTt	p.S707I	CWC22_ENST00000295749.6_Missense_Mutation_p.S707I	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	707	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.S707I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GCTATGACTACTGATGGATGA	0.408																																						uc010frh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)AGT>ATT		CWC22 spliceosome-associated protein homolog							52.0	50.0	51.0					2																	180815259		1935	4151	6086	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180815259C>A		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2120G>T	2.37:g.180815259C>A	ENSP00000387006:p.Ser707Ile					CWC22_uc002uno.2_Missense_Mutation_p.S229I|CWC22_uc002unp.2_Missense_Mutation_p.S707I	p.S707I	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			19	2420	-			707			Ser-rich.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.2120G>T	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013977	0.54468	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.26373	2.29;2.29;1.74	6.16	6.16	0.99307	.	0.401108	0.33980	N	0.004361	T	0.26268	0.0641	N	0.08118	0	0.58432	D	0.999999	D	0.57257	0.979	P	0.52267	0.694	T	0.10941	-1.0608	10	0.66056	D	0.02	-4.109	19.848	0.96722	0.0:1.0:0.0:0.0	.	707	Q9HCG8	CWC22_HUMAN	I	707	ENSP00000387006:S707I;ENSP00000295749:S707I;ENSP00000384159:S707I	ENSP00000295749:S707I	S	-	2	0	CWC22	180523504	1.000000	0.71417	0.128000	0.21923	0.083000	0.17756	6.959000	0.76031	2.937000	0.99478	0.650000	0.86243	AGT		PASS	0.408	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		5	14	5	14	---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180815448	180815448	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:180815448C>A	ENST00000410053.3	-	19	2230	c.1931G>T	c.(1930-1932)cGg>cTg	p.R644L	CWC22_ENST00000295749.6_Missense_Mutation_p.R644L	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	644					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R644L(1)|p.R644Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GAGATGCTCCCGCAGTTCATC	0.358																																						uc010frh.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(1930-1932)CGG>CTG		CWC22 spliceosome-associated protein homolog							125.0	123.0	124.0					2																	180815448		1910	4116	6026	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180815448C>A		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1931G>T	2.37:g.180815448C>A	ENSP00000387006:p.Arg644Leu					CWC22_uc002uno.2_Missense_Mutation_p.R166L|CWC22_uc002unp.2_Missense_Mutation_p.R644L	p.R644L	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			19	2231	-			644					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.1931G>T	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745245	0.89663	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.51817	0.93;0.93;0.69	6.05	6.05	0.98169	.	0.043864	0.85682	D	0.000000	T	0.79009	0.4374	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.83742	0.0204	10	0.87932	D	0	-5.7603	19.5894	0.95501	0.0:1.0:0.0:0.0	.	644	Q9HCG8	CWC22_HUMAN	L	644	ENSP00000387006:R644L;ENSP00000295749:R644L;ENSP00000384159:R644L	ENSP00000295749:R644L	R	-	2	0	CWC22	180523693	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	CGG		PASS	0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		27	45	27	45	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182787078	182787078	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:182787078C>T	ENST00000431877.2	+	16	3793	c.3614C>T	c.(3613-3615)cCa>cTa	p.P1205L	SSFA2_ENST00000409136.1_Missense_Mutation_p.P714L|SSFA2_ENST00000320370.7_Missense_Mutation_p.P1205L|SSFA2_ENST00000409001.1_Missense_Mutation_p.P1183L|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Missense_Mutation_p.P1030L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1205						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1205L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCATCAATGCCAGCTGCTGAG	0.443																																						uc002uoi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3613-3615)CCA>CTA		sperm specific antigen 2 isoform 1							65.0	61.0	62.0					2																	182787078		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182787078C>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.3614C>T	2.37:g.182787078C>T	ENSP00000388731:p.Pro1205Leu					SSFA2_uc002uoh.2_Missense_Mutation_p.P1205L|SSFA2_uc002uoj.2_Missense_Mutation_p.P1183L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.P1030L|SSFA2_uc002uol.2_Missense_Mutation_p.P1052L|SSFA2_uc002uom.2_Missense_Mutation_p.P669L	p.P1205L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		16	3936	+			1205					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.3614C>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348212	0.82132	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136;ENST00000451836	T;T;T;T;T	0.18502	2.5;2.21;2.53;2.54;2.3	5.8	5.8	0.92144	.	0.268178	0.33023	N	0.005365	T	0.38054	0.1026	M	0.67953	2.075	0.51482	D	0.999928	D;P;D;D;D	0.58620	0.97;0.947;0.97;0.97;0.983	P;P;P;P;P	0.57009	0.811;0.676;0.676;0.676;0.676	T	0.05818	-1.0862	10	0.87932	D	0	-2.0557	19.0588	0.93078	0.0:1.0:0.0:0.0	.	1030;714;1183;1205;1205	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	L	1205;1205;1183;1030;714;150	ENSP00000388731:P1205L;ENSP00000314669:P1205L;ENSP00000387319:P1183L;ENSP00000409867:P1030L;ENSP00000386916:P714L	ENSP00000314669:P1205L	P	+	2	0	SSFA2	182495323	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	4.847000	0.62867	2.744000	0.94065	0.655000	0.94253	CCA		PASS	0.443	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		6	32	6	32	---	---	---	---
FRZB	2487	broad.mit.edu	37	2	183699610	183699610	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:183699610C>A	ENST00000295113.4	-	6	1553	c.944G>T	c.(943-945)gGc>gTc	p.G315V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	315	Ser-rich.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G315V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CGAGTTCCTGCCAGACTTCTG	0.433																																						uc002upa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(943-945)GGC>GTC		frizzled-related protein precursor							120.0	115.0	117.0					2																	183699610		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183699610C>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.944G>T	2.37:g.183699610C>A	ENSP00000295113:p.Gly315Val						p.G315V	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		6	1162	-			315			Ser-rich.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.944G>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550034	0.65311	.	.	ENSG00000162998	ENST00000295113	T	0.74947	-0.89	5.57	4.67	0.58626	.	0.000000	0.64402	D	0.000007	T	0.62295	0.2416	L	0.32530	0.975	0.58432	D	0.999992	P	0.48911	0.917	B	0.40329	0.326	T	0.65907	-0.6054	10	0.87932	D	0	.	9.3037	0.37863	0.0:0.7774:0.1467:0.0759	.	315	Q92765	SFRP3_HUMAN	V	315	ENSP00000295113:G315V	ENSP00000295113:G315V	G	-	2	0	FRZB	183407855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.829000	0.48128	1.298000	0.44778	0.557000	0.71058	GGC		PASS	0.433	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		17	46	17	46	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196599666	196599666	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:196599666G>T	ENST00000409086.3	+	10	2672	c.2397G>T	c.(2395-2397)ggG>ggT	p.G799G	SLC39A10_ENST00000541054.1_Silent_p.G349G|SLC39A10_ENST00000359634.5_Silent_p.G799G|DNAH7_ENST00000484183.1_5'Flank	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	799					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G799G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTCCTGTGGGGCAATTCATCC	0.363																																						uc002utg.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(2395-2397)GGG>GGT		solute carrier family 39 (zinc transporter),							203.0	187.0	192.0					2																	196599666		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196599666G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2397G>T	2.37:g.196599666G>T						SLC39A10_uc002uth.3_Silent_p.G799G|SLC39A10_uc010zgp.1_Silent_p.G349G	p.G799G	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		10	2611	+			799					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.2397G>T	CCDS33353.1																																																																																				PASS	0.363	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		31	65	31	65	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196619071	196619071	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:196619071A>T	ENST00000312428.6	-	63	11854	c.11754T>A	c.(11752-11754)ccT>ccA	p.P3918P	DNAH7_ENST00000409063.1_Silent_p.P401P	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3918					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P3918P(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCCTCAGGAGGATGCTTGT	0.438																																						uc002utj.3																			1	Substitution - coding silent(1)		lung(1)	skin(10)|ovary(2)	12						c.(11752-11754)CCT>CCA		dynein, axonemal, heavy chain 7							115.0	111.0	112.0					2																	196619071		1917	4133	6050	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196619071A>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11754T>A	2.37:g.196619071A>T						DNAH7_uc002uti.3_Silent_p.P401P	p.P3918P	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			63	11855	-			3918					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11754T>A	CCDS42794.1																																																																																				PASS	0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	45	16	45	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197194300	197194300	+	Splice_Site	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:197194300T>A	ENST00000260983.3	-	5	752	c.570A>T	c.(568-570)tcA>tcT	p.S190S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	190	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S190S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATTCTTACCTGACAATGTAA	0.398																																						uc002utm.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(568-570)TCA>TCT		HECT, C2 and WW domain containing E3 ubiquitin							136.0	121.0	126.0					2																	197194300		2203	4300	6503	SO:0001630	splice_region_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197194300T>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.571+1A>T	2.37:g.197194300T>A						HECW2_uc002utl.1_5'UTR	p.S190S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			5	753	-			190			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.570A>T	CCDS33354.1																																																																																				PASS	0.398	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Silent	15	59	15	59	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198949214	198949214	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:198949214A>T	ENST00000428675.1	+	2	1371	c.973A>T	c.(973-975)Aaa>Taa	p.K325*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.K227*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	325					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K227*(1)|p.K325*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACAGATATCTAAAAACAAAGA	0.398																																						uc010fsp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(973-975)AAA>TAA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						71.0	72.0	71.0					2																	198949214		2203	4300	6503	SO:0001587	stop_gained	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949214A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.973A>T	2.37:g.198949214A>T	ENSP00000402861:p.Lys325*					PLCL1_uc002uuv.3_Nonsense_Mutation_p.K246*	p.K325*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1264	+			325					Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	c.973A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	37	6.131523	0.97310	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	6.04	6.04	0.98038	.	0.158228	0.44902	D	0.000402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	.	.	.	X	325;227	.	.	K	+	1	0	PLCL1	198657459	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.327000	0.96396	2.317000	0.78254	0.459000	0.35465	AAA		PASS	0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		15	46	15	46	---	---	---	---
C2orf69	205327	broad.mit.edu	37	2	200789838	200789838	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:200789838G>T	ENST00000319974.5	+	2	570	c.387G>T	c.(385-387)tgG>tgT	p.W129C	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	129						extracellular region (GO:0005576)		p.W129C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GGGAAAACTGGAGTCTAGAAA	0.343																																						uc010zhb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(385-387)TGG>TGT		hypothetical protein LOC205327 precursor							42.0	40.0	41.0					2																	200789838		1820	4075	5895	SO:0001583	missense	205327					extracellular region		g.chr2:200789838G>T		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.387G>T	2.37:g.200789838G>T	ENSP00000312770:p.Trp129Cys						p.W129C	NM_153689	NP_710156	Q8N8R5	CB069_HUMAN			2	570	+			129					Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	c.387G>T	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840241	0.71488	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81395	-0.0952	9	0.87932	D	0	-9.1461	19.2356	0.93858	0.0:0.0:1.0:0.0	.	129	Q8N8R5	CB069_HUMAN	C	129	.	ENSP00000312770:W129C	W	+	3	0	C2orf69	200498083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.822000	0.99363	2.763000	0.94921	0.655000	0.94253	TGG		PASS	0.343	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		4	26	4	26	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207176006	207176006	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:207176006A>T	ENST00000374423.3	+	5	7140	c.6754A>T	c.(6754-6756)Aaa>Taa	p.K2252*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2252	Poly-Lys.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K2252*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGAAGAAGAAAAAATCTGT	0.413																																						uc002vbp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(6754-6756)AAA>TAA		zinc finger, DBF-type containing 2							35.0	37.0	36.0					2																	207176006		1833	4090	5923	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207176006A>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6754A>T	2.37:g.207176006A>T	ENSP00000363545:p.Lys2252*						p.K2252*	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7004	+			2252			Poly-Lys.		Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.6754A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	47	13.326829	0.99735	.	.	ENSG00000204186	ENST00000374423	.	.	.	5.31	0.221	0.15283	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.101	0.10014	0.4032:0.2023:0.3945:0.0	.	.	.	.	X	2252	.	ENSP00000363545:K2252X	K	+	1	0	ZDBF2	206884251	0.991000	0.36638	0.005000	0.12908	0.004000	0.04260	1.182000	0.32029	0.419000	0.25927	-0.421000	0.06004	AAA		PASS	0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	12	8	12	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209163433	209163433	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:209163433C>T	ENST00000264380.4	+	8	1138	c.980C>T	c.(979-981)tCt>tTt	p.S327F	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S327F|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S241F|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S230F	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	327					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S327F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATGAGACATCTGTCAGTCCC	0.438																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(979-981)TCT>TTT		phosphatidylinositol-3-phosphate 5-kinase type							149.0	123.0	132.0					2																	209163433		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209163433C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.980C>T	2.37:g.209163433C>T	ENSP00000264380:p.Ser327Phe					PIKFYVE_uc010fun.1_Missense_Mutation_p.S8F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S327F|PIKFYVE_uc002vcv.2_Missense_Mutation_p.S230F|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S327F|PIKFYVE_uc002vcx.2_Missense_Mutation_p.S241F	p.S327F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			8	1138	+			327					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.980C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875285	0.91664	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.68765	1.41;-0.35;1.52	5.53	5.53	0.82687	.	0.067424	0.64402	D	0.000010	T	0.65964	0.2742	N	0.14661	0.345	0.80722	D	1	D;D;D;P;D	0.64830	0.989;0.989;0.994;0.94;0.987	P;P;P;B;P	0.62298	0.768;0.768;0.9;0.445;0.878	T	0.59423	-0.7457	10	0.10377	T	0.69	-19.666	19.8143	0.96560	0.0:1.0:0.0:0.0	.	327;327;241;327;230	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	F	230;327;327;241;327	ENSP00000264380:S327F;ENSP00000384356:S327F;ENSP00000405736:S327F	ENSP00000264380:S327F	S	+	2	0	PIKFYVE	208871678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.247000	0.78257	2.747000	0.94245	0.650000	0.86243	TCT		PASS	0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		3	17	3	17	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214181983	214181983	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:214181983G>C	ENST00000331683.5	+	5	534	c.439G>C	c.(439-441)Gtt>Ctt	p.V147L	SPAG16_ENST00000374309.3_Missense_Mutation_p.V53L|SPAG16_ENST00000432529.2_Missense_Mutation_p.V147L|SPAG16_ENST00000413312.1_Missense_Mutation_p.V116L|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.V147L|SPAG16_ENST00000447990.1_Missense_Mutation_p.V147L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	147					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.V147L(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACTTAGAACTGTTGGGAATGT	0.333																																						uc002veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)GTT>CTT		sperm associated antigen 16 isoform 1							97.0	99.0	98.0					2																	214181983		2203	4296	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214181983G>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.439G>C	2.37:g.214181983G>C	ENSP00000332592:p.Val147Leu					SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.V93L|SPAG16_uc010zjk.1_Missense_Mutation_p.V53L|SPAG16_uc002veo.2_Missense_Mutation_p.V147L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.V116L	p.V147L	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	5	531	+		Renal(323;0.00461)	147					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.439G>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990698	0.35131	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.58060	0.43;0.36	5.78	-7.72	0.01250	.	1.967440	0.02238	N	0.065513	T	0.29061	0.0722	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.001;0.0;0.0	T	0.10314	-1.0635	10	0.18276	T	0.48	.	4.9696	0.14108	0.0708:0.3568:0.1406:0.4318	.	53;116;87;147;147	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	L	147;147;116;147;147;53	ENSP00000332592:V147L;ENSP00000363428:V53L	ENSP00000272898:V147L	V	+	1	0	SPAG16	213890228	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-2.732000	0.00804	-1.477000	0.01872	-0.119000	0.15052	GTT		PASS	0.333	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		12	26	12	26	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233245187	233245187	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr2:233245187G>T	ENST00000392027.2	+	7	1119	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	284					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.V284L(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGACCCGTCTGTGACCCATCT	0.637																																						uc002vsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)GTG>TTG		placental alkaline phosphatase preproprotein							106.0	108.0	107.0					2																	233245187		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245187G>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.850G>T	2.37:g.233245187G>T	ENSP00000375881:p.Val284Leu					ALPP_uc002vsr.2_5'Flank	p.V284L	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	7	1015	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	284					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.850G>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	4.617	0.114622	0.08831	.	.	ENSG00000163283	ENST00000392027	D	0.96802	-4.13	3.2	3.2	0.36748	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.133808	0.52532	D	0.000065	D	0.94994	0.8380	M	0.82630	2.6	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	D	0.90457	0.4443	10	0.62326	D	0.03	.	8.1026	0.30865	0.1203:0.0:0.8797:0.0	.	284	P05187	PPB1_HUMAN	L	284	ENSP00000375881:V284L	ENSP00000375881:V284L	V	+	1	0	ALPP	232953431	0.915000	0.31059	0.397000	0.26308	0.039000	0.13416	1.823000	0.39062	1.481000	0.48307	0.305000	0.20034	GTG		PASS	0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		5	80	5	80	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1443184	1443184	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:1443184G>T	ENST00000446702.2	+	21	3399	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	CNTN6_ENST00000350110.2_Missense_Mutation_p.E924D|CNTN6_ENST00000539053.1_Missense_Mutation_p.E852D			Q9UQ52	CNTN6_HUMAN	contactin 6	924	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E924D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGAACTGGGAGCATGTAAAAA	0.358																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2770-2772)GAG>GAT		contactin 6 precursor							90.0	92.0	91.0					3																	1443184		2202	4299	6501	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1443184G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2772G>T	3.37:g.1443184G>T	ENSP00000407822:p.Glu924Asp					CNTN6_uc011asj.1_Missense_Mutation_p.E852D|CNTN6_uc003bpa.2_Missense_Mutation_p.E924D	p.E924D	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	21	3039	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	924			Fibronectin type-III 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2772G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	1.967	-0.437525	0.04636	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.44482	0.92;0.92;0.92	5.01	1.78	0.24846	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000038	T	0.31575	0.0801	N	0.12887	0.27	0.46028	D	0.998822	P	0.42973	0.796	P	0.59595	0.86	T	0.40059	-0.9583	10	0.02654	T	1	.	6.0475	0.19768	0.3486:0.1394:0.512:0.0	.	924	Q9UQ52	CNTN6_HUMAN	D	924;852;924	ENSP00000407822:E924D;ENSP00000442791:E852D;ENSP00000341882:E924D	ENSP00000341882:E924D	E	+	3	2	CNTN6	1418184	0.890000	0.30428	1.000000	0.80357	0.996000	0.88848	0.043000	0.13971	0.528000	0.28580	-0.142000	0.14014	GAG		PASS	0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		7	18	7	18	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9426217	9426217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:9426217G>T	ENST00000345094.3	+	10	1703	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	THUMPD3_ENST00000515662.2_Nonsense_Mutation_p.G457*|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Nonsense_Mutation_p.G457*|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|SETD5-AS1_ENST00000521609.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	457						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.G457*(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGCGTTATCTGGAATGCGACA	0.428																																						uc003bro.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1369-1371)GGA>TGA		THUMP domain containing 3							359.0	323.0	336.0					3																	9426217		2203	4300	6503	SO:0001587	stop_gained	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426217G>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1369G>T	3.37:g.9426217G>T	ENSP00000339532:p.Gly457*					LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Nonsense_Mutation_p.G457*	p.G457*	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1517	+	Medulloblastoma(99;0.227)		457					Q9H8V6|Q9NVC1|Q9UFS3	Nonsense_Mutation	SNP	ENST00000345094.3	37	c.1369G>T	CCDS2573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.608135|5.608135	0.96626|0.96626	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000416603	.|.	.|.	.|.	5.67|5.67	3.62|3.62	0.41486|0.41486	.|.	0.298098|.	0.41294|.	D|.	0.000917|.	.|T	.|0.48390	.|0.1497	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42849	.|-0.9427	.|4	0.12766|.	T|.	0.61|.	-31.6384|-31.6384	4.6118|4.6118	0.12406|0.12406	0.4271:0.0:0.5729:0.0|0.4271:0.0:0.5729:0.0	.|.	.|.	.|.	.|.	X|L	457|227	.|.	ENSP00000339532:G457X|.	G|W	+|+	1|2	0|0	THUMPD3|THUMPD3	9401217|9401217	0.364000|0.364000	0.24997|0.24997	0.977000|0.977000	0.42913|0.42913	0.140000|0.140000	0.21249|0.21249	0.830000|0.830000	0.27462|0.27462	1.400000|1.400000	0.46741|0.46741	0.555000|0.555000	0.69702|0.69702	GGA|TGG		PASS	0.428	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		6	147	6	147	---	---	---	---
COLQ	8292	broad.mit.edu	37	3	15512050	15512050	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:15512050C>A	ENST00000383788.5	-	11	835	c.710G>T	c.(709-711)gGc>gTc	p.G237V	COLQ_ENST00000383781.4_Missense_Mutation_p.G227V|COLQ_ENST00000603808.1_Missense_Mutation_p.G237V|COLQ_ENST00000435459.2_Missense_Mutation_p.G227V|COLQ_ENST00000383786.5_Missense_Mutation_p.G203V|COLQ_ENST00000383785.2_Missense_Mutation_p.G237V|COLQ_ENST00000383787.2_Missense_Mutation_p.G228V	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	237	Collagen-like 1.|Heparan sulfate proteoglycan binding. {ECO:0000255}.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.G237V(1)|p.G227V(1)		endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TACCTGCTTGCCTCGTTTTCC	0.547																																						uc003bzx.2																			2	Substitution - Missense(2)		lung(2)		0	GRCh37	CM080164	COLQ	M		c.(709-711)GGC>GTC		acetylcholinesterase collagen-like tail subunit							390.0	274.0	313.0					3																	15512050		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512050C>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.710G>T	3.37:g.15512050C>A	ENSP00000373298:p.Gly237Val					COLQ_uc003bzv.2_Missense_Mutation_p.G227V|COLQ_uc003bzz.2_Missense_Mutation_p.G228V|COLQ_uc010heo.2_Missense_Mutation_p.G203V|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G96V|COLQ_uc003cad.1_RNA	p.G237V	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			11	836	-			237			Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.710G>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843783	0.71488	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.99637	-5.77;-5.53;-5.53;-6.29;-5.53;-5.53	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97391	0.9989	10	0.87932	D	0	-12.6279	18.3522	0.90342	0.0:1.0:0.0:0.0	.	203;228;237;227	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	V	228;227;227;237;237;227;237;203;180	ENSP00000373297:G228V;ENSP00000373291:G227V;ENSP00000402511:G227V;ENSP00000373295:G237V;ENSP00000373298:G237V;ENSP00000373296:G203V	ENSP00000373291:G227V	G	-	2	0	COLQ	15487054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.220000	0.72237	2.873000	0.98535	0.561000	0.74099	GGC		PASS	0.547	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		23	28	23	28	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38938418	38938418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:38938418C>T	ENST00000302328.3	-	14	2519	c.2321G>A	c.(2320-2322)tGg>tAg	p.W774*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.W774*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.W774*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.W774*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	774					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.W774*(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATACATTCCCACATATTTTC	0.443																																						uc011ays.1																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(2320-2322)TGG>TAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						120.0	112.0	115.0					3																	38938418		2203	4300	6503	SO:0001587	stop_gained	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938418C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2321G>A	3.37:g.38938418C>T	ENSP00000307599:p.Trp774*					SCN11A_uc010hhn.1_5'Flank	p.W774*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2520	-			774			II.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	c.2321G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	43	9.857837	0.99281	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.95	5.95	0.96441	.	0.057860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	774	.	ENSP00000307599:W774X	W	-	2	0	SCN11A	38913422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	2.827000	0.97445	0.650000	0.86243	TGG		PASS	0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		20	21	20	21	---	---	---	---
ZBTB47	92999	broad.mit.edu	37	3	42703103	42703103	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:42703103C>T	ENST00000232974.6	+	3	1881	c.1600C>T	c.(1600-1602)Cac>Tac	p.H534Y	ZBTB47_ENST00000457842.3_Missense_Mutation_p.H158Y|ZBTB47_ENST00000505904.1_Missense_Mutation_p.H80Y			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	534					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.H534Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CACCATGGCCCACGTGCGTAA	0.527																																						uc003clu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CAC>TAC		zinc finger protein 651							60.0	60.0	60.0					3																	42703103		2012	4192	6204	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703103C>T	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1600C>T	3.37:g.42703103C>T	ENSP00000232974:p.His534Tyr						p.H158Y	NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	2	574	+			158			C2H2-type 4.		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.472C>T	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536196	0.64972	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.13089	2.62;2.62;2.62	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	N	0.25485	0.75	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	T	0.02358	-1.1171	10	0.42905	T	0.14	-41.8406	17.9287	0.88991	0.0:1.0:0.0:0.0	.	158	Q9UFB7	ZBT47_HUMAN	Y	534;433;158;80	ENSP00000232974:H534Y;ENSP00000411491:H158Y;ENSP00000420968:H80Y	ENSP00000232974:H534Y	H	+	1	0	ZBTB47	42678107	1.000000	0.71417	0.975000	0.42487	0.731000	0.41821	7.754000	0.85163	2.230000	0.72887	0.561000	0.74099	CAC		PASS	0.527	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		10	27	10	27	---	---	---	---
CCR1	1230	broad.mit.edu	37	3	46244987	46244987	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:46244987C>A	ENST00000296140.3	-	2	943	c.818G>T	c.(817-819)tGt>tTt	p.C273F	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	273					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.C273F(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCTCTGCTCACACTCATGGGT	0.458																																						uc003cph.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(817-819)TGT>TTT		chemokine (C-C motif) receptor 1							55.0	51.0	52.0					3																	46244987		2203	4300	6503	SO:0001583	missense	1230				cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity	g.chr3:46244987C>A		CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.818G>T	3.37:g.46244987C>A	ENSP00000296140:p.Cys273Phe					CCR3_uc003cpg.1_Intron	p.C273F	NM_001295	NP_001286	P32246	CCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	889	-			273			Extracellular (Potential).		Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	c.818G>T	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864388	0.51482	.	.	ENSG00000163823	ENST00000296140	T	0.38077	1.16	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76650	-0.2881	10	0.66056	D	0.02	.	19.3805	0.94530	0.0:1.0:0.0:0.0	.	273	P32246	CCR1_HUMAN	F	273	ENSP00000296140:C273F	ENSP00000296140:C273F	C	-	2	0	CCR1	46219991	1.000000	0.71417	0.955000	0.39395	0.011000	0.07611	7.305000	0.78891	2.656000	0.90262	0.655000	0.94253	TGT		PASS	0.458	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295		6	28	6	28	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64601826	64601826	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:64601826C>A	ENST00000498707.1	-	20	3176	c.2834G>T	c.(2833-2835)aGt>aTt	p.S945I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S917I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	945	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S945I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTACATTCACTCCTGCTGGC	0.428																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(2833-2835)AGT>ATT		ADAM metallopeptidase with thrombospondin type 1							161.0	158.0	159.0					3																	64601826		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601826C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2834G>T	3.37:g.64601826C>A	ENSP00000418735:p.Ser945Ile					ADAMTS9_uc011bfo.1_Missense_Mutation_p.S917I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S774I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S945I|ADAMTS9_uc011bfp.1_5'UTR	p.S945I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	2866	-		Lung NSC(201;0.00682)	945			TSP type-1 3.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2834G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.662650|4.662650	0.88251|0.88251	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.68903|.	-0.36;0.13|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82646|0.82646	0.5082|0.5082	M|M	0.83012|0.83012	2.62|2.62	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.989;0.995;0.999;0.994|.	T|T	0.83138|0.83138	-0.0110|-0.0110	10|5	0.87932|.	D|.	0|.	.|.	19.79|19.79	0.96453|0.96453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	917;945;945;945|.	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4|.	.;.;.;ATS9_HUMAN|.	I|L	917;945|1	ENSP00000295903:S917I;ENSP00000418735:S945I|.	ENSP00000295903:S917I|.	S|V	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64576866|64576866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.835000|0.835000	0.47333|0.47333	7.430000|7.430000	0.80321|0.80321	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	AGT|GTG		PASS	0.428	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			26	95	26	95	---	---	---	---
EIF4E3	317649	broad.mit.edu	37	3	71739215	71739215	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:71739215C>G	ENST00000425534.3	-	6	581	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q	EIF4E3_ENST00000389826.3_Missense_Mutation_p.E86Q|EIF4E3_ENST00000295612.3_Missense_Mutation_p.E86Q|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000421769.2_Missense_Mutation_p.E86Q|EIF4E3_ENST00000448225.1_Missense_Mutation_p.E86Q	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	192					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)	p.E192Q(1)|p.E86Q(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TAGATCTTTTCTAAAACAGTC	0.383																																						uc003dov.3																			2	Substitution - Missense(2)		lung(2)		0						c.(574-576)GAA>CAA		eukaryotic translation initiation factor 4E							88.0	89.0	89.0					3																	71739215		2203	4300	6503	SO:0001583	missense	317649				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr3:71739215C>G	AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.574G>C	3.37:g.71739215C>G	ENSP00000393324:p.Glu192Gln					EIF4E3_uc011bgc.1_Missense_Mutation_p.E86Q|EIF4E3_uc003dox.2_Missense_Mutation_p.E86Q|EIF4E3_uc011bgd.1_Missense_Mutation_p.E86Q|EIF4E3_uc010hoc.2_Missense_Mutation_p.E86Q	p.E192Q	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)	6	582	-		Prostate(10;0.0166)	192					B2R963|Q6NUT1	Missense_Mutation	SNP	ENST00000425534.3	37	c.574G>C	CCDS46867.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.477976	0.44044	.	.	ENSG00000163412	ENST00000425534;ENST00000448225;ENST00000389826;ENST00000295612;ENST00000421769;ENST00000497838	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.63	2.7	0.31948	Translation Initiation factor eIF- 4e-like  domain (2);	0.188706	0.56097	N	0.000025	T	0.30324	0.0761	L	0.33792	1.035	0.36029	D	0.839265	B	0.22003	0.063	B	0.27076	0.076	T	0.23048	-1.0199	10	0.19147	T	0.46	-15.305	10.8666	0.46858	0.0:0.6744:0.2584:0.0672	.	192	Q8N5X7	IF4E3_HUMAN	Q	192;86;86;86;86;86	ENSP00000393324:E192Q;ENSP00000410350:E86Q;ENSP00000374476:E86Q;ENSP00000295612:E86Q;ENSP00000411762:E86Q;ENSP00000418211:E86Q	ENSP00000295612:E86Q	E	-	1	0	EIF4E3	71821905	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	3.662000	0.54510	0.856000	0.35383	0.655000	0.94253	GAA		PASS	0.383	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352294.2	NM_173359		9	30	9	30	---	---	---	---
GBE1	2632	broad.mit.edu	37	3	81719992	81719992	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:81719992T>G	ENST00000429644.2	-	3	1069	c.426A>C	c.(424-426)ttA>ttC	p.L142F	GBE1_ENST00000489715.1_Missense_Mutation_p.L101F|GBE1_ENST00000477426.1_5'UTR	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	142					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L142F(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AAAGTACCTTTAATTTGGATC	0.343									Glycogen Storage Disease, type IV																													uc003dqg.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(424-426)TTA>TTC		glucan (1,4-alpha-), branching enzyme 1							87.0	83.0	84.0					3																	81719992		1829	4084	5913	SO:0001583	missense	2632	Glycogen_Storage_Disease_type_IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81719992T>G		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.426A>C	3.37:g.81719992T>G	ENSP00000410833:p.Leu142Phe					GBE1_uc011bgm.1_Missense_Mutation_p.L101F	p.L142F	NM_000158	NP_000149	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	4	709	-		Lung NSC(201;0.0117)	142					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.426A>C	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508603	0.27036	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18810	2.19;2.2	5.5	3.1	0.35709	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.076693	0.52532	D	0.000067	T	0.23410	0.0566	L	0.43152	1.355	0.36376	D	0.861606	B;B	0.33583	0.369;0.418	B;P	0.45794	0.367;0.493	T	0.21381	-1.0247	10	0.87932	D	0	-5.0013	4.1175	0.10088	0.0:0.2536:0.1717:0.5747	.	101;142	E9PGM4;Q04446	.;GLGB_HUMAN	F	142;193;101	ENSP00000410833:L142F;ENSP00000419638:L101F	ENSP00000264326:L193F	L	-	3	2	GBE1	81802682	1.000000	0.71417	0.998000	0.56505	0.304000	0.27724	0.702000	0.25631	0.376000	0.24707	-0.321000	0.08615	TTA		PASS	0.343	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	11	3	11	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706678	96706678	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:96706678G>T	ENST00000389672.5	+	3	993	c.955G>T	c.(955-957)Gat>Tat	p.D319Y	EPHA6_ENST00000542517.1_Missense_Mutation_p.D225Y|EPHA6_ENST00000470610.2_Missense_Mutation_p.D319Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	225						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.D225Y(2)|p.D319Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCAAGGGTTGATTCCTCCTC	0.488																																						uc010how.1																			3	Substitution - Missense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(955-957)GAT>TAT		EPH receptor A6 isoform a							209.0	208.0	208.0					3																	96706678		1965	4169	6134	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706678G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.955G>T	3.37:g.96706678G>T	ENSP00000374323:p.Asp319Tyr					EPHA6_uc003drp.1_Missense_Mutation_p.D319Y	p.D319Y	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	998	+			224			Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.955G>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.208121|4.208121	0.79240|0.79240	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.75477|.	4.99;-0.94;4.43|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.158012|.	0.38897|.	U|.	0.001536|.	D|.	0.83257|.	0.5215|.	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|.	0.85175|.	0.1000|.	10|.	0.87932|.	D|.	0|.	.|.	18.3228|18.3228	0.90244|0.90244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	319;319|.	B3KS12;E7EU71|.	.;.|.	Y|L	319;319;225|263	ENSP00000420598:D319Y;ENSP00000374323:D319Y;ENSP00000439758:D225Y|.	ENSP00000374323:D319Y|.	D|X	+|+	1|2	0|2	EPHA6|EPHA6	98189368|98189368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	GAT|TGA		PASS	0.488	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		22	192	22	192	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98250924	98250924	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:98250924C>A	ENST00000284311.3	+	1	182	c.47C>A	c.(46-48)aCg>aAg	p.T16K		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	16					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T16K(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TACTATGCTACGAGCCCAAAC	0.438																																						uc011bgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)ACG>AAG		G protein-coupled receptor 15							77.0	74.0	75.0					3																	98250924		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98250924C>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.47C>A	3.37:g.98250924C>A	ENSP00000284311:p.Thr16Lys						p.T16K	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	47	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	16			Extracellular (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.47C>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257871	0.22965	.	.	ENSG00000154165	ENST00000284311	T	0.37235	1.21	4.63	4.63	0.57726	.	0.472415	0.17987	N	0.155346	T	0.25494	0.0620	L	0.32530	0.975	0.09310	N	0.999999	P	0.38827	0.649	B	0.31946	0.138	T	0.12091	-1.0561	10	0.19590	T	0.45	-1.3293	15.3711	0.74564	0.0:1.0:0.0:0.0	.	16	P49685	GPR15_HUMAN	K	16	ENSP00000284311:T16K	ENSP00000284311:T16K	T	+	2	0	GPR15	99733614	0.000000	0.05858	0.041000	0.18516	0.589000	0.36550	0.940000	0.28992	2.552000	0.86080	0.650000	0.86243	ACG		PASS	0.438	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			6	34	6	34	---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109028117	109028117	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:109028117G>A	ENST00000478945.1	-	4	488	c.242C>T	c.(241-243)cCa>cTa	p.P81L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	81					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.P81L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGAAGGGCTGGTATTTTGCA	0.418																																						uc003dxo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(241-243)CCA>CTA		developmental pluripotency associated 2							137.0	136.0	136.0					3																	109028117		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028117G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.242C>T	3.37:g.109028117G>A	ENSP00000417710:p.Pro81Leu						p.P81L	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			4	489	-			81					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.242C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	9.996	1.232068	0.22626	.	.	ENSG00000163530	ENST00000478945	T	0.56103	0.48	3.71	1.81	0.25067	.	1.168700	0.06275	N	0.696316	T	0.53174	0.1780	M	0.70595	2.14	0.09310	N	1	B	0.22800	0.075	B	0.20184	0.028	T	0.49826	-0.8898	10	0.72032	D	0.01	0.3354	8.4856	0.33069	0.0:0.0:0.5809:0.4191	.	81	Q7Z7J5	DPPA2_HUMAN	L	81	ENSP00000417710:P81L	ENSP00000417710:P81L	P	-	2	0	DPPA2	110510807	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.130000	0.10498	0.500000	0.27991	0.561000	0.74099	CCA		PASS	0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		18	122	18	122	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111357003	111357003	+	Missense_Mutation	SNP	G	G	T	rs372441714		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:111357003G>T	ENST00000283285.5	+	13	1644	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F	CD96_ENST00000352690.4_Missense_Mutation_p.V489F	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	505					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V505F(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AACTAATCACGTCCATATCAC	0.388									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1513-1515)GTC>TTC		CD96 antigen isoform 1 precursor							172.0	156.0	162.0					3																	111357003		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111357003G>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1513G>T	3.37:g.111357003G>T	ENSP00000283285:p.Val505Phe					CD96_uc003dxx.2_Missense_Mutation_p.V489F|CD96_uc010hpy.1_Missense_Mutation_p.V488F	p.V505F	NM_198196	NP_937839	P40200	TACT_HUMAN			13	1683	+			505			Extracellular (Potential).		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1513G>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570166	0.28003	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.63913	-0.07;-0.07	4.58	-6.15	0.02105	.	1.480840	0.04142	N	0.319788	T	0.36963	0.0986	N	0.08118	0	0.09310	N	1	B;B;B	0.14438	0.006;0.01;0.006	B;B;B	0.13407	0.004;0.009;0.004	T	0.28681	-1.0036	10	0.52906	T	0.07	0.1612	5.7294	0.18030	0.271:0.0:0.5005:0.2285	.	488;489;505	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	F	489;505	ENSP00000342040:V489F;ENSP00000283285:V505F	ENSP00000283285:V505F	V	+	1	0	CD96	112839693	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.673000	0.05239	-0.950000	0.03659	-0.244000	0.11960	GTC		PASS	0.388	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			19	74	19	74	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113135435	113135435	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:113135435C>A	ENST00000295868.2	-	6	772	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.G204W|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.G204W(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGAAAACTCCCTTTTTCAGCT	0.303																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(610-612)GGG>TGG		WD repeat domain 52 isoform 2							51.0	52.0	52.0					3																	113135435		2203	4298	6501	SO:0001583	missense	55779							g.chr3:113135435C>A																												ENST00000295868.2:c.610G>T	3.37:g.113135435C>A	ENSP00000295868:p.Gly204Trp						p.G204W	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			6	656	-			204						Missense_Mutation	SNP	ENST00000295868.2	37	c.610G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285057	0.80803	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.12147	4.78;2.71	4.87	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.47229	0.1434	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57820	-0.7745	9	0.87932	D	0	.	18.5542	0.91077	0.0:1.0:0.0:0.0	.	204	Q96MT7	WDR52_HUMAN	W	204	ENSP00000377428:G204W;ENSP00000295868:G204W	ENSP00000295868:G204W	G	-	1	0	WDR52	114618125	1.000000	0.71417	0.952000	0.39060	0.969000	0.65631	6.598000	0.74122	2.680000	0.91292	0.557000	0.71058	GGG		PASS	0.303	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			13	36	13	36	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115439702	115439702	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:115439702A>C	ENST00000305124.6	+	3	1056	c.690A>C	c.(688-690)gaA>gaC	p.E230D	GAP43_ENST00000393780.3_Missense_Mutation_p.E266D	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	230					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E230D(1)|p.E266D(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AAGAAGAGGAACCTGAGGCTG	0.512																																						uc003ebq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(688-690)GAA>GAC		growth associated protein 43 isoform 2							201.0	198.0	199.0					3																	115439702		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115439702A>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.690A>C	3.37:g.115439702A>C	ENSP00000305010:p.Glu230Asp					GAP43_uc003ebr.2_Missense_Mutation_p.E266D	p.E230D	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	1076	+			230					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.690A>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916957	0.33815	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60299	0.2;0.2	5.17	-0.123	0.13527	Neuromodulin (GAP-43), C-terminal (1);	0.510682	0.20916	N	0.083376	T	0.44767	0.1309	L	0.55990	1.75	0.27790	N	0.942867	B;B	0.25048	0.117;0.039	B;B	0.25884	0.064;0.044	T	0.32640	-0.9899	10	0.41790	T	0.15	-5.6129	4.4569	0.11647	0.4211:0.3426:0.2364:0.0	.	266;230	A8K0Y4;P17677	.;NEUM_HUMAN	D	230;266	ENSP00000305010:E230D;ENSP00000377372:E266D	ENSP00000305010:E230D	E	+	3	2	GAP43	116922392	0.090000	0.21635	0.500000	0.27589	0.954000	0.61252	0.271000	0.18626	0.076000	0.16826	0.482000	0.46254	GAA		PASS	0.512	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		7	252	7	252	---	---	---	---
MAATS1	89876	broad.mit.edu	37	3	119462960	119462960	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:119462960C>G	ENST00000273390.5	+	14	1896	c.1819C>G	c.(1819-1821)Cgg>Ggg	p.R607G	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	443						mitochondrion (GO:0005739)		p.R607G(1)									TGAGCGCCAGCGGCGGGTACG	0.582																																						uc003ede.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1819-1821)CGG>GGG		AAT1-alpha							76.0	71.0	73.0					3																	119462960		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462960C>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1819C>G	3.37:g.119462960C>G	ENSP00000273390:p.Arg607Gly					C3orf15_uc010hqz.2_Missense_Mutation_p.R545G|C3orf15_uc011bjd.1_Missense_Mutation_p.R481G|C3orf15_uc011bje.1_Missense_Mutation_p.R587G	p.R607G	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	14	1896	+			443					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1819C>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093916	0.76870	.	.	ENSG00000183833	ENST00000273390	T	0.60424	0.19	5.65	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.81899	-0.0721	10	0.87932	D	0	-12.1194	14.3171	0.66460	0.4044:0.5956:0.0:0.0	.	443;545;607	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	G	607	ENSP00000273390:R607G	ENSP00000273390:R607G	R	+	1	2	C3orf15	120945650	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	2.242000	0.43106	0.669000	0.31146	0.484000	0.47621	CGG		PASS	0.582	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		13	39	13	39	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119887051	119887051	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:119887051G>C	ENST00000464295.1	-	10	1718	c.1273C>G	c.(1273-1275)Cct>Gct	p.P425A	GPR156_ENST00000315843.3_Missense_Mutation_p.P425A|GPR156_ENST00000461057.1_Missense_Mutation_p.P421A			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	425						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.P425A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGACCCGAAGGCCCCTGAGCA	0.627																																						uc011bjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1273-1275)CCT>GCT		G protein-coupled receptor 156							27.0	31.0	30.0					3																	119887051		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119887051G>C	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1273C>G	3.37:g.119887051G>C	ENSP00000417261:p.Pro425Ala					GPR156_uc011bjg.1_Missense_Mutation_p.P421A	p.P425A	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	9	1273	-			425			Cytoplasmic (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.1273C>G	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403258	0.42613	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.24723	1.84;1.84;1.84	5.65	4.78	0.61160	.	0.159142	0.44097	D	0.000485	T	0.23806	0.0576	L	0.56769	1.78	0.09310	N	0.999993	P;P	0.39282	0.666;0.666	B;B	0.33339	0.162;0.162	T	0.15896	-1.0421	9	.	.	.	-4.8521	12.6572	0.56793	0.0789:0.0:0.9211:0.0	.	421;425	E9PFZ4;Q8NFN8	.;GP156_HUMAN	A	425;425;421	ENSP00000417261:P425A;ENSP00000324553:P425A;ENSP00000418758:P421A	.	P	-	1	0	GPR156	121369741	0.007000	0.16637	0.016000	0.15963	0.015000	0.08874	1.449000	0.35123	1.631000	0.50456	0.655000	0.94253	CCT		PASS	0.627	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		7	22	7	22	---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121554135	121554135	+	Start_Codon_SNP	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:121554135G>T	ENST00000273668.2	+	1	74	c.3G>T	c.(1-3)atG>atT	p.M1I	IQCB1_ENST00000349820.6_5'Flank|EAF2_ENST00000451944.2_Start_Codon_SNP_p.M1I|IQCB1_ENST00000310864.6_5'Flank|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	1					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.M1I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GAGTAATTATGAATAGCGCAG	0.572																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		ELL associated factor 2							63.0	63.0	63.0					3																	121554135		2203	4300	6503	SO:0001582	initiator_codon_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554135G>T	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.3G>T	3.37:g.121554135G>T	ENSP00000273668:p.Met1Ile					IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR	p.M1I	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	1	102	+			1					Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.3G>T	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902229	0.72754	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	.	.	.	0.80722	D	1	P	0.47762	0.9	P	0.47299	0.543	T	0.67872	-0.5558	8	0.87932	D	0	-10.8546	17.8686	0.88804	0.0:0.0:1.0:0.0	.	1	Q96CJ1	EAF2_HUMAN	I	1	.	ENSP00000273668:M1I	M	+	3	0	EAF2	123036825	1.000000	0.71417	0.983000	0.44433	0.017000	0.09413	7.032000	0.76498	2.817000	0.96982	0.563000	0.77884	ATG		PASS	0.572	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	Missense_Mutation	9	60	9	60	---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124462860	124462860	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:124462860G>C	ENST00000232607.2	+	6	1478	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	UMPS_ENST00000536109.1_Missense_Mutation_p.D366H|UMPS_ENST00000413078.2_Missense_Mutation_p.D183H|UMPS_ENST00000538242.1_Missense_Mutation_p.D280H	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	458	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.D458H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	CTCAGCAGCTGATCGTCTGGA	0.428																																						uc003ehl.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1372-1374)GAT>CAT		uridine monophosphate synthase							174.0	155.0	161.0					3																	124462860		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124462860G>C		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1372G>C	3.37:g.124462860G>C	ENSP00000232607:p.Asp458His					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.D280H|UMPS_uc011bkb.1_Missense_Mutation_p.D366H|UMPS_uc011bkc.1_Missense_Mutation_p.D280H|UMPS_uc003ehn.3_Missense_Mutation_p.D280H|UMPS_uc011bkd.1_Missense_Mutation_p.D183H	p.D458H	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	6	1478	+			458			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.1372G>C	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716077	0.30413	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.67	-4.46	0.03536	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.384571	0.31495	N	0.007548	T	0.80352	0.4607	M	0.88906	2.99	0.09310	N	1	P;D;B	0.63880	0.497;0.993;0.122	P;P;B	0.57846	0.628;0.828;0.137	T	0.78074	-0.2346	10	0.87932	D	0	-5.2756	14.1334	0.65270	0.5111:0.0:0.4889:0.0	.	183;280;458	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	H	458;366;280;183	ENSP00000232607:D458H;ENSP00000443577:D366H;ENSP00000444988:D280H;ENSP00000397965:D183H	ENSP00000232607:D458H	D	+	1	0	UMPS	125945550	0.619000	0.27059	0.000000	0.03702	0.351000	0.29236	1.366000	0.34193	-0.430000	0.07318	-1.036000	0.02392	GAT		PASS	0.428	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		18	72	18	72	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124826404	124826404	+	Missense_Mutation	SNP	G	G	C	rs372643808		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:124826404G>C	ENST00000393469.4	-	9	1675	c.1626C>G	c.(1624-1626)agC>agG	p.S542R	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_Missense_Mutation_p.S571R|SLC12A8_ENST00000430155.2_Missense_Mutation_p.S343R|SLC12A8_ENST00000314584.7_Missense_Mutation_p.S295R|SLC12A8_ENST00000469902.1_Missense_Mutation_p.S542R	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	542					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S542R(1)|p.S580R(1)		endometrium(2)|kidney(2)|lung(12)	16						GAGTCCCTTCGCTCTTGGAAG	0.552																																						uc003ehv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1624-1626)AGC>AGG		solute carrier family 12, member 8							96.0	104.0	101.0					3																	124826404		2095	4234	6329	SO:0001583	missense	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124826404G>C		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1626C>G	3.37:g.124826404G>C	ENSP00000377112:p.Ser542Arg					SLC12A8_uc003ehw.3_Missense_Mutation_p.S571R|SLC12A8_uc003eht.3_Missense_Mutation_p.S343R|SLC12A8_uc003ehu.3_Missense_Mutation_p.S295R|SLC12A8_uc010hry.2_Missense_Mutation_p.S295R	p.S542R	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			10	1737	-			542					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	ENST00000393469.4	37	c.1626C>G	CCDS43143.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256016	0.22965	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;T	0.88201	-1.86;-2.34;-2.35;-2.34;-1.46	5.27	-7.86	0.01187	.	.	.	.	.	T	0.79149	0.4397	L	0.50919	1.6	0.09310	N	1	B;B;B;B	0.13145	0.006;0.007;0.002;0.007	B;B;B;B	0.14578	0.011;0.007;0.005;0.007	T	0.61912	-0.6965	9	0.25751	T	0.34	.	2.6666	0.05053	0.3466:0.1969:0.3513:0.1053	.	295;571;542;343	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	R	343;542;571;542;295	ENSP00000415713:S343R;ENSP00000377112:S542R;ENSP00000404243:S571R;ENSP00000418783:S542R;ENSP00000323632:S295R	ENSP00000323632:S295R	S	-	3	2	SLC12A8	126309094	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.434000	0.06939	-0.896000	0.03915	-1.090000	0.02178	AGC		PASS	0.552	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		18	93	18	93	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129221605	129221605	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:129221605G>T	ENST00000348417.2	+	20	2504	c.2427G>T	c.(2425-2427)ctG>ctT	p.L809L	IFT122_ENST00000349441.2_Silent_p.L698L|IFT122_ENST00000507564.1_Silent_p.L801L|IFT122_ENST00000440957.2_Silent_p.L600L|IFT122_ENST00000431818.2_Silent_p.L659L|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000347300.2_Silent_p.L750L|IFT122_ENST00000504021.1_Silent_p.L685L|IFT122_ENST00000296266.3_Silent_p.L860L	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	809					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.L860L(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGCCCCTGCTGCTGTGCGCTA	0.612																																						uc003emm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2425-2427)CTG>CTT		WD repeat domain 10 isoform 2							117.0	108.0	111.0					3																	129221605		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221605G>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2427G>T	3.37:g.129221605G>T						IFT122_uc003eml.2_Silent_p.L860L|IFT122_uc003emn.2_Silent_p.L750L|IFT122_uc003emo.2_Silent_p.L698L|IFT122_uc003emp.2_Silent_p.L659L|IFT122_uc010htc.2_Silent_p.L801L|IFT122_uc011bky.1_Silent_p.L600L|IFT122_uc003emq.2_Silent_p.L649L|IFT122_uc003emr.2_Silent_p.L561L|IFT122_uc011bla.1_Silent_p.L582L|IFT122_uc010hte.2_Silent_p.L135L|IFT122_uc003ems.2_Silent_p.L190L|IFT122_uc011bkx.1_Silent_p.L649L|IFT122_uc010htd.1_Silent_p.L288L	p.L809L	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			20	2633	+			809					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.2427G>T	CCDS3061.1																																																																																				PASS	0.612	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		9	101	9	101	---	---	---	---
NEK11	79858	broad.mit.edu	37	3	130852747	130852747	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:130852747T>C	ENST00000510769.1	+	6	847	c.594T>C	c.(592-594)taT>taC	p.Y198Y	NEK11_ENST00000511262.1_Silent_p.Y198Y|NEK11_ENST00000429253.2_Silent_p.Y198Y|NEK11_ENST00000412440.2_Silent_p.Y50Y|NEK11_ENST00000507910.1_Silent_p.Y198Y|NEK11_ENST00000508196.1_Silent_p.Y198Y|NEK11_ENST00000510688.1_Silent_p.Y198Y|NEK11_ENST00000356918.4_Silent_p.Y198Y|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000383366.4_Silent_p.Y198Y					NIMA-related kinase 11									p.Y198Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTCCCCATTATATGAGTCCTG	0.423																																						uc003eny.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(592-594)TAT>TAC		NIMA-related kinase 11 isoform 1							99.0	101.0	100.0					3																	130852747		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130852747T>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.594T>C	3.37:g.130852747T>C						NEK11_uc003enx.2_Silent_p.Y198Y|NEK11_uc003eoa.2_Silent_p.Y198Y|NEK11_uc003enz.2_Silent_p.Y16Y|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Silent_p.Y50Y|NEK11_uc011bll.1_Silent_p.Y198Y|NEK11_uc003enw.1_Silent_p.Y198Y|NEK11_uc011blm.1_Silent_p.Y198Y|NEK11_uc010hto.1_Silent_p.Y50Y	p.Y198Y	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			7	920	+			198			Protein kinase.			Silent	SNP	ENST00000510769.1	37	c.594T>C																																																																																					PASS	0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		55	56	55	56	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133098855	133098855	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:133098855C>G	ENST00000321871.6	+	4	510	c.300C>G	c.(298-300)atC>atG	p.I100M	TMEM108_ENST00000393130.3_Missense_Mutation_p.I100M|TMEM108_ENST00000515826.1_Missense_Mutation_p.I100M|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	100	Pro-rich.					integral component of membrane (GO:0016021)		p.I100M(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCCACCATCGCTGCGACAG	0.662																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(298-300)ATC>ATG		transmembrane protein 108 precursor							81.0	68.0	72.0					3																	133098855		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133098855C>G	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.300C>G	3.37:g.133098855C>G	ENSP00000324651:p.Ile100Met					TMEM108_uc003epi.2_Missense_Mutation_p.I100M|TMEM108_uc003epj.1_Missense_Mutation_p.I100M|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.I51M	p.I100M	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	574	+			100			Pro-rich.|Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.300C>G	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	c	4.828	0.154018	0.09185	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000514894;ENST00000512662;ENST00000512137;ENST00000515826;ENST00000510183	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	2.99	-2.47	0.06442	.	0.573980	0.13432	N	0.388307	T	0.51160	0.1658	L	0.51422	1.61	0.09310	N	1	D;P	0.57571	0.98;0.873	P;B	0.55999	0.789;0.443	T	0.44251	-0.9340	10	0.46703	T	0.11	-2.8419	4.3931	0.11350	0.0:0.3355:0.1844:0.48	.	100;100	E9PB58;Q6UXF1	.;TM108_HUMAN	M	100;100;51;51;100;100;100	ENSP00000324651:I100M;ENSP00000376838:I100M;ENSP00000422072:I51M;ENSP00000427447:I51M;ENSP00000426301:I100M;ENSP00000423338:I100M;ENSP00000421486:I100M	ENSP00000324651:I100M	I	+	3	3	TMEM108	134581545	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.695000	0.05109	-0.645000	0.05458	-0.265000	0.10407	ATC		PASS	0.662	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		5	77	5	77	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134873074	134873074	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:134873074C>A	ENST00000398015.3	+	6	1748	c.1378C>A	c.(1378-1380)Ccc>Acc	p.P460T	EPHB1_ENST00000493838.1_Missense_Mutation_p.P21T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.P460T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCGGAGCAGCCCAATGGCAT	0.557																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1378-1380)CCC>ACC		ephrin receptor EphB1 precursor							130.0	139.0	136.0					3																	134873074		2193	4298	6491	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873074C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1378C>A	3.37:g.134873074C>A	ENSP00000381097:p.Pro460Thr					EPHB1_uc003equ.2_Missense_Mutation_p.P21T	p.P460T	NM_004441	NP_004432	P54762	EPHB1_HUMAN			6	1598	+			460			Fibronectin type-III 2.|Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1378C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789865	0.90367	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.57273	0.41;0.41	5.0	5.0	0.66597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.061986	0.64402	D	0.000003	T	0.73024	0.3534	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74402	-0.3677	10	0.51188	T	0.08	.	18.0819	0.89443	0.0:1.0:0.0:0.0	.	460	P54762	EPHB1_HUMAN	T	460;21	ENSP00000381097:P460T;ENSP00000419574:P21T	ENSP00000381097:P460T	P	+	1	0	EPHB1	136355764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.610000	0.88304	0.655000	0.94253	CCC		PASS	0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		19	143	19	143	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136016830	136016830	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:136016830C>G	ENST00000251654.4	+	8	870	c.800C>G	c.(799-801)gCc>gGc	p.A267G	PCCB_ENST00000471595.1_Missense_Mutation_p.A267G|PCCB_ENST00000468777.1_Missense_Mutation_p.A298G|PCCB_ENST00000483687.1_Missense_Mutation_p.A248G|PCCB_ENST00000469217.1_Missense_Mutation_p.A287G|PCCB_ENST00000490504.1_Missense_Mutation_p.A210G|PCCB_ENST00000482086.1_Missense_Mutation_p.A151G|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000478469.1_Missense_Mutation_p.A267G|PCCB_ENST00000462637.1_Missense_Mutation_p.A244G|PCCB_ENST00000466072.1_Missense_Mutation_p.A267G	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	267	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.A267G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GATGTTGATGCCTTGTGTAAT	0.542																																						uc003eqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)GCC>GGC		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						251.0	255.0	254.0					3																	136016830		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136016830C>G		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.800C>G	3.37:g.136016830C>G	ENSP00000251654:p.Ala267Gly					PCCB_uc003eqz.1_Missense_Mutation_p.A267G|PCCB_uc011bmc.1_Missense_Mutation_p.A287G|PCCB_uc011bmd.1_Missense_Mutation_p.A184G	p.A267G	NM_000532	NP_000523	P05166	PCCB_HUMAN			8	851	+			267			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.800C>G	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088213	0.76642	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	D;D;D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58	4.72	4.72	0.59763	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.099731	0.64402	D	0.000002	D	0.98482	0.9494	M	0.91818	3.245	0.80722	D	1	B;P;P;P	0.46142	0.377;0.873;0.529;0.529	B;P;P;P	0.56088	0.429;0.791;0.594;0.498	D	0.98310	1.0523	10	0.42905	T	0.14	.	12.3177	0.54966	0.0:0.9163:0.0:0.0836	.	184;287;267;267	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	G	267;210;248;298;244;267;151;267;287;267	ENSP00000251654:A267G;ENSP00000418307:A210G;ENSP00000420639:A248G;ENSP00000419129:A298G;ENSP00000420391:A244G;ENSP00000420158:A267G;ENSP00000417253:A151G;ENSP00000417549:A267G;ENSP00000419027:A287G;ENSP00000420759:A267G	ENSP00000251654:A267G	A	+	2	0	PCCB	137499520	1.000000	0.71417	0.989000	0.46669	0.784000	0.44337	5.183000	0.65065	2.445000	0.82738	0.655000	0.94253	GCC		PASS	0.542	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			23	160	23	160	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136082280	136082280	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:136082280C>A	ENST00000383202.2	-	26	2971	c.2715G>T	c.(2713-2715)aaG>aaT	p.K905N	STAG1_ENST00000434713.2_Intron|STAG1_ENST00000236698.5_Missense_Mutation_p.K905N|STAG1_ENST00000536929.1_Missense_Mutation_p.K489N	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	905					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.K905N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCAGTGTTTCCTTAATAATAT	0.353																																						uc003era.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2713-2715)AAG>AAT		stromal antigen 1							142.0	136.0	138.0					3																	136082280		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136082280C>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2715G>T	3.37:g.136082280C>A	ENSP00000372689:p.Lys905Asn					STAG1_uc003erb.1_Missense_Mutation_p.K905N	p.K905N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			26	3007	-			905					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2715G>T	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050065	0.75846	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000536929	T;T;T	0.58060	0.86;1.1;0.36	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75605	-0.3260	10	0.66056	D	0.02	.	12.3233	0.54997	0.0:0.9226:0.0:0.0774	.	905;905	Q6P275;Q8WVM7	.;STAG1_HUMAN	N	905;905;489	ENSP00000372689:K905N;ENSP00000236698:K905N;ENSP00000445787:K489N	ENSP00000236698:K905N	K	-	3	2	STAG1	137564970	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.427000	0.21379	2.479000	0.83701	0.555000	0.69702	AAG		PASS	0.353	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		5	44	5	44	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141163969	141163969	+	Missense_Mutation	SNP	C	C	A	rs530133824		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:141163969C>A	ENST00000514251.1	+	4	3018	c.2739C>A	c.(2737-2739)gaC>gaA	p.D913E	ZBTB38_ENST00000441582.2_Missense_Mutation_p.D913E|ZBTB38_ENST00000321464.5_Missense_Mutation_p.D914E					zinc finger and BTB domain containing 38									p.D913E(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATTCCACTGACAAACCGTGGC	0.498																																						uc003etw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2737-2739)GAC>GAA		zinc finger and BTB domain containing 38							51.0	53.0	53.0					3																	141163969		1975	4162	6137	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163969C>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2739C>A	3.37:g.141163969C>A	ENSP00000426387:p.Asp913Glu					ZBTB38_uc010hun.2_Missense_Mutation_p.D910E|ZBTB38_uc010huo.2_Missense_Mutation_p.D913E|ZBTB38_uc003ety.2_Missense_Mutation_p.D913E|ZBTB38_uc010hup.2_Missense_Mutation_p.D914E	p.D913E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3721	+			913						Missense_Mutation	SNP	ENST00000514251.1	37	c.2739C>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112595	0.56398	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.13089	2.63;2.63;2.62	5.28	1.22	0.21188	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.74258	2.255	0.35311	D	0.783923	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.26258	-1.0108	9	.	.	.	-39.1282	9.2276	0.37416	0.0:0.5073:0.0:0.4927	.	914;913	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	E	913;913;914	ENSP00000426387:D913E;ENSP00000406955:D913E;ENSP00000372635:D914E	.	D	+	3	2	ZBTB38	142646659	0.984000	0.35163	0.950000	0.38849	0.983000	0.72400	0.212000	0.17497	-0.063000	0.13065	-0.355000	0.07637	GAC		PASS	0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			8	49	8	49	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141164615	141164615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:141164615C>T	ENST00000514251.1	+	4	3664	c.3385C>T	c.(3385-3387)Cag>Tag	p.Q1129*	ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.Q1129*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.Q1130*					zinc finger and BTB domain containing 38									p.Q1129*(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGCCTGCTTCCAGTGCCCCAA	0.463																																						uc003etw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3385-3387)CAG>TAG		zinc finger and BTB domain containing 38							100.0	99.0	99.0					3																	141164615		1913	4125	6038	SO:0001587	stop_gained	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164615C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3385C>T	3.37:g.141164615C>T	ENSP00000426387:p.Gln1129*					ZBTB38_uc010hun.2_Nonsense_Mutation_p.Q1126*|ZBTB38_uc010huo.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc003ety.2_Nonsense_Mutation_p.Q1129*|ZBTB38_uc010hup.2_Nonsense_Mutation_p.Q1130*	p.Q1129*	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	4367	+			1129			C2H2-type 10.			Nonsense_Mutation	SNP	ENST00000514251.1	37	c.3385C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.542030	0.98348	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	.	.	.	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.3217	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	1129;1129;1130	.	.	Q	+	1	0	ZBTB38	142647305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.516000	0.45520	2.746000	0.94184	0.655000	0.94253	CAG		PASS	0.463	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			13	181	13	181	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	142985708	142985708	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:142985708G>T	ENST00000316549.6	-	16	1982	c.1774C>A	c.(1774-1776)Cag>Aag	p.Q592K		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	592					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.Q592*(1)|p.Q592K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCTTGCTCCTGGTAATTTATG	0.488																																						uc003evn.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(1774-1776)CAG>AAG		solute carrier family 9 (sodium/hydrogen							145.0	139.0	141.0					3																	142985708		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985708G>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1774C>A	3.37:g.142985708G>T	ENSP00000320246:p.Gln592Lys						p.Q592K	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	1956	-			592					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1774C>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996333	0.35226	.	.	ENSG00000181804	ENST00000316549	T	0.28666	1.6	5.7	3.74	0.42951	.	0.153158	0.44285	D	0.000476	T	0.22704	0.0548	L	0.44542	1.39	0.27998	N	0.935385	B	0.17038	0.02	B	0.14578	0.011	T	0.15752	-1.0426	10	0.06891	T	0.86	.	13.475	0.61303	0.0:0.3109:0.6891:0.0	.	592	Q8IVB4	SL9A9_HUMAN	K	592	ENSP00000320246:Q592K	ENSP00000320246:Q592K	Q	-	1	0	SLC9A9	144468398	1.000000	0.71417	0.999000	0.59377	0.499000	0.33736	3.375000	0.52410	2.683000	0.91414	0.655000	0.94253	CAG		PASS	0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		17	80	17	80	---	---	---	---
COMMD2	51122	broad.mit.edu	37	3	149459448	149459448	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:149459448G>T	ENST00000473414.1	-	5	514	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	154	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.L154I(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTTTGATTAAGGTGTAGCTTT	0.393																																						uc003exk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)CTT>ATT		COMM domain containing 2							238.0	244.0	242.0					3																	149459448		2203	4300	6503	SO:0001583	missense	51122						protein binding	g.chr3:149459448G>T	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.460C>A	3.37:g.149459448G>T	ENSP00000419475:p.Leu154Ile					COMMD2_uc003exj.1_5'Flank	p.L154I	NM_016094	NP_057178	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	507	-			154			COMM.		Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	c.460C>A	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852440	0.71719	.	.	ENSG00000114744	ENST00000473414	T	0.11063	2.81	5.76	4.89	0.63831	COMM domain (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	M	0.85373	2.75	0.58432	D	0.99999	P	0.46578	0.88	P	0.48304	0.573	T	0.12091	-1.0561	10	0.21014	T	0.42	-28.792	14.5375	0.67971	0.0699:0.0:0.9301:0.0	.	154	Q86X83	COMD2_HUMAN	I	154	ENSP00000419475:L154I	ENSP00000419475:L154I	L	-	1	0	COMMD2	150942138	1.000000	0.71417	0.140000	0.22221	0.847000	0.48162	7.957000	0.87870	1.436000	0.47453	0.655000	0.94253	CTT		PASS	0.393	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		6	156	6	156	---	---	---	---
CLRN1	7401	broad.mit.edu	37	3	150690325	150690325	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:150690325A>T	ENST00000327047.1	-	1	461	c.171T>A	c.(169-171)ttT>ttA	p.F57L	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.F57L|CLRN1-AS1_ENST00000465576.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	57					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.F57L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACCCATAAACTTGTCCA	0.537																																						uc003eyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)TTT>TTA		clarin 1 isoform a							112.0	101.0	104.0					3																	150690325		2203	4300	6503	SO:0001583	missense	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150690325A>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.171T>A	3.37:g.150690325A>T	ENSP00000322280:p.Phe57Leu					CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	p.F57L	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	462	-			57					D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	c.171T>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390960	0.82902	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.69926	-0.44;-0.44	5.35	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.68952	2.095	0.58432	D	0.999998	D	0.76494	0.999	D	0.79108	0.992	T	0.76870	-0.2799	10	0.66056	D	0.02	.	8.378	0.32455	0.2975:0.0:0.7025:0.0	.	57	P58418	CLRN1_HUMAN	L	57	ENSP00000322280:F57L;ENSP00000329158:F57L	ENSP00000322280:F57L	F	-	3	2	CLRN1	152173015	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.798000	0.38814	1.263000	0.44181	-0.385000	0.06624	TTT		PASS	0.537	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			11	98	11	98	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151163652	151163652	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:151163652C>A	ENST00000282466.3	-	4	4116	c.4117G>T	c.(4117-4119)Gct>Tct	p.A1373S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1373					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.A1373S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGTCATAGCAGTGGGTGTA	0.473																																						uc011bod.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4117-4119)GCT>TCT		immunoglobulin superfamily, member 10 precursor							199.0	192.0	195.0					3																	151163652		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163652C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4117G>T	3.37:g.151163652C>A	ENSP00000282466:p.Ala1373Ser						p.A1373S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4117	-			1373					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4117G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	4.440	0.081463	0.08533	.	.	ENSG00000152580	ENST00000282466	T	0.68331	-0.32	4.43	0.247	0.15521	.	0.822182	0.10413	N	0.677655	T	0.40222	0.1108	N	0.08118	0	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.21759	-1.0236	10	0.16420	T	0.52	.	7.4745	0.27368	0.0:0.3501:0.0:0.6499	.	1373	Q6WRI0	IGS10_HUMAN	S	1373	ENSP00000282466:A1373S	ENSP00000282466:A1373S	A	-	1	0	IGSF10	152646342	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.153000	0.10144	-0.029000	0.13827	0.591000	0.81541	GCT		PASS	0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		30	146	30	146	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157188180	157188180	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:157188180T>G	ENST00000362010.2	-	3	584	c.277A>C	c.(277-279)Aac>Cac	p.N93H	VEPH1_ENST00000392832.2_Missense_Mutation_p.N93H|VEPH1_ENST00000494677.1_Missense_Mutation_p.N93H|VEPH1_ENST00000537559.1_Missense_Mutation_p.N93H|VEPH1_ENST00000468233.1_Missense_Mutation_p.N93H|VEPH1_ENST00000392833.2_Missense_Mutation_p.N93H|VEPH1_ENST00000543418.1_Missense_Mutation_p.N93H	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	93						plasma membrane (GO:0005886)		p.N93H(2)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTCTCAGGTTATGTTCCAAG	0.458																																						uc003fbj.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)	5						c.(277-279)AAC>CAC		ventricular zone expressed PH domain homolog 1							141.0	130.0	134.0					3																	157188180		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157188180T>G	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.277A>C	3.37:g.157188180T>G	ENSP00000354919:p.Asn93His					VEPH1_uc003fbk.1_Missense_Mutation_p.N93H|VEPH1_uc010hvu.1_Missense_Mutation_p.N93H|VEPH1_uc003fbm.2_Missense_Mutation_p.N93H|VEPH1_uc003fbn.2_Missense_Mutation_p.N93H	p.N93H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	594	-			93					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.277A>C	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483279	0.84854	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.39	5.39	0.77823	.	0.097108	0.64402	D	0.000002	T	0.58637	0.2136	M	0.74881	2.28	0.80722	D	1	D;D;D	0.63880	0.986;0.993;0.977	D;P;P	0.63877	0.919;0.885;0.75	T	0.62774	-0.6783	10	0.59425	D	0.04	-9.9547	15.4421	0.75190	0.0:0.0:0.0:1.0	.	93;93;93	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	H	93	ENSP00000376578:N93H;ENSP00000354919:N93H;ENSP00000446258:N93H;ENSP00000376577:N93H	ENSP00000354919:N93H	N	-	1	0	VEPH1	158670874	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.865000	0.69583	2.054000	0.61138	0.533000	0.62120	AAC		PASS	0.458	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		33	45	33	45	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	159997010	159997010	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:159997010C>G	ENST00000326448.7	-	16	2239	c.1807G>C	c.(1807-1809)Gat>Cat	p.D603H	IFT80_ENST00000496589.1_Missense_Mutation_p.D466H|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.D774H|IFT80_ENST00000483465.1_Missense_Mutation_p.D466H	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	603					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.D603H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTCACAGCATCTTCCCATTTT	0.343																																						uc011boy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1807-1809)GAT>CAT		WD repeat domain 56							91.0	88.0	89.0					3																	159997010		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159997010C>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1807G>C	3.37:g.159997010C>G	ENSP00000312778:p.Asp603His					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.D466H|IFT80_uc003fdd.1_Missense_Mutation_p.D286H|IFT80_uc003fde.1_Missense_Mutation_p.D466H	p.D603H	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		16	2240	-			603					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1807G>C	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344260	0.82022	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.83075	-1.68;-1.68;-1.68	6.16	6.16	0.99307	.	0.088579	0.41823	U	0.000803	D	0.86818	0.6024	M	0.76574	2.34	0.58432	D	0.999999	D	0.58620	0.983	P	0.48952	0.596	D	0.86527	0.1819	10	0.46703	T	0.11	-12.6259	17.7157	0.88336	0.0:0.8778:0.1222:0.0	.	603	Q9P2H3	IFT80_HUMAN	H	603;466;466	ENSP00000312778:D603H;ENSP00000418196:D466H;ENSP00000420646:D466H	ENSP00000312778:D603H	D	-	1	0	IFT80	161479704	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.919000	0.63383	2.937000	0.99478	0.650000	0.86243	GAT		PASS	0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		18	71	18	71	---	---	---	---
SI	6476	broad.mit.edu	37	3	164766995	164766995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:164766995G>T	ENST00000264382.3	-	15	1697	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	545	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.C545*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGCATCCATGCAAATTGTTT	0.328										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1633-1635)TGC>TGA		sucrase-isomaltase	Acarbose(DB00284)						89.0	82.0	84.0					3																	164766995		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164766995G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1635C>A	3.37:g.164766995G>T	ENSP00000264382:p.Cys545*	HNSCC(35;0.089)					p.C545*	NM_001041	NP_001032	P14410	SUIS_HUMAN			15	1697	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	545			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.1635C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	38	6.804780	0.97853	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.14	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5271	0.39171	0.2382:0.0:0.7618:0.0	.	.	.	.	X	545	.	ENSP00000264382:C545X	C	-	3	2	SI	166249689	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.400000	0.20932	1.295000	0.44724	0.460000	0.39030	TGC		PASS	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	27	6	27	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906058	164906058	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:164906058C>G	ENST00000475390.1	-	2	3004	c.2561G>C	c.(2560-2562)gGg>gCg	p.G854A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G854A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	854					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G854A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAAGTCTCCCCCAGTTCCCCC	0.567										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2560-2562)GGG>GCG		slit and trk like 3 protein precursor							93.0	90.0	91.0					3																	164906058		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906058C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2561G>C	3.37:g.164906058C>G	ENSP00000420091:p.Gly854Ala	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G854A	p.G854A	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3005	-			854			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2561G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	2.122	-0.401084	0.04865	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50277	0.75;0.75	5.95	4.08	0.47627	.	0.000000	0.38436	N	0.001692	T	0.21674	0.0522	N	0.03608	-0.345	0.32657	N	0.518637	B	0.02656	0.0	B	0.01281	0.0	T	0.20940	-1.0260	10	0.12766	T	0.61	-4.8837	10.6302	0.45532	0.0:0.7941:0.133:0.0728	.	854	O94933	SLIK3_HUMAN	A	854	ENSP00000420091:G854A;ENSP00000241274:G854A	ENSP00000241274:G854A	G	-	2	0	SLITRK3	166388752	0.754000	0.28360	0.987000	0.45799	0.684000	0.39900	1.640000	0.37186	1.536000	0.49237	0.655000	0.94253	GGG		PASS	0.567	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		19	99	19	99	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906748	164906748	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:164906748G>A	ENST00000475390.1	-	2	2314	c.1871C>T	c.(1870-1872)cCa>cTa	p.P624L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P624L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	624					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P624L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGCTGGGCTGGGGATTCTCC	0.547										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1870-1872)CCA>CTA		slit and trk like 3 protein precursor							35.0	37.0	36.0					3																	164906748		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906748G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1871C>T	3.37:g.164906748G>A	ENSP00000420091:p.Pro624Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.P624L	p.P624L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2315	-			624			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1871C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947024	0.53186	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.55413	0.52;0.52	5.76	5.76	0.90799	.	0.000000	0.37437	N	0.002085	T	0.57770	0.2076	L	0.31065	0.9	0.80722	D	1	D	0.62365	0.991	P	0.55011	0.766	T	0.58814	-0.7570	10	0.62326	D	0.03	-6.0974	19.1019	0.93277	0.0:0.0:1.0:0.0	.	624	O94933	SLIK3_HUMAN	L	624	ENSP00000420091:P624L;ENSP00000241274:P624L	ENSP00000241274:P624L	P	-	2	0	SLITRK3	166389442	1.000000	0.71417	0.914000	0.36105	0.960000	0.62799	7.053000	0.76641	2.871000	0.98454	0.655000	0.94253	CCA		PASS	0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	27	7	27	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167000262	167000262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:167000262G>T	ENST00000392766.2	-	19	2241	c.1901C>A	c.(1900-1902)tCa>tAa	p.S634*	ZBBX_ENST00000392767.2_Nonsense_Mutation_p.S634*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.S673*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.S673*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.S605*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	634						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S673*(1)|p.S634*(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTGCTGTTGAAGGTCTCTG	0.343																																						uc003fep.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1900-1902)TCA>TAA		zinc finger, B-box domain containing							118.0	114.0	115.0					3																	167000262		1814	4065	5879	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167000262G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1901C>A	3.37:g.167000262G>T	ENSP00000376519:p.Ser634*					ZBBX_uc011bpc.1_Nonsense_Mutation_p.S673*|ZBBX_uc003feq.2_Nonsense_Mutation_p.S605*	p.S634*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			19	2224	-			634					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1901C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	39	7.735210	0.98459	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.04	4.15	0.48705	.	0.156867	0.30492	N	0.009510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1017	9.7738	0.40607	0.0981:0.0:0.9019:0.0	.	.	.	.	X	634;634;673;673;605	.	ENSP00000305065:S673X	S	-	2	0	ZBBX	168482956	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	1.910000	0.39927	2.347000	0.79759	0.650000	0.86243	TCA		PASS	0.343	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		33	151	33	151	---	---	---	---
ZNF639	51193	broad.mit.edu	37	3	179052110	179052110	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:179052110A>G	ENST00000326361.3	+	7	1803	c.1358A>G	c.(1357-1359)aAg>aGg	p.K453R	ZNF639_ENST00000484866.1_Missense_Mutation_p.K453R|ZNF639_ENST00000496856.1_Missense_Mutation_p.K453R	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	453	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K453R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAGATTTCAAGCATTCAGCT	0.328																																						uc003fjq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1357-1359)AAG>AGG		zinc finger protein 639							63.0	63.0	63.0					3																	179052110		2202	4297	6499	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179052110A>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1358A>G	3.37:g.179052110A>G	ENSP00000325634:p.Lys453Arg					ZNF639_uc003fjr.1_Missense_Mutation_p.K453R	p.K453R	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1701	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		453			Interaction with CTNNA2.|C2H2-type 7.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1358A>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	8.718	0.913556	0.17907	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.01560	4.77;4.77;4.77	6.08	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063735	0.64402	D	0.000005	T	0.00936	0.0031	N	0.04787	-0.16	0.26949	N	0.966065	B	0.02656	0.0	B	0.01281	0.0	T	0.49153	-0.8969	10	0.21540	T	0.41	.	3.4956	0.07654	0.6952:0.0:0.3048:0.0	.	453	Q9UID6	ZN639_HUMAN	R	453	ENSP00000417740:K453R;ENSP00000325634:K453R;ENSP00000418766:K453R	ENSP00000325634:K453R	K	+	2	0	ZNF639	180534804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.491000	0.53252	2.330000	0.79161	0.533000	0.62120	AAG		PASS	0.328	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		9	40	9	40	---	---	---	---
MCCC1	56922	broad.mit.edu	37	3	182756857	182756857	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:182756857T>C	ENST00000265594.4	-	12	1480	c.1334A>G	c.(1333-1335)cAg>cGg	p.Q445R	MCCC1_ENST00000492597.1_Missense_Mutation_p.Q336R|MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000539926.1_Missense_Mutation_p.Q310R	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	445	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.Q445R(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CAATGCCGCCTGGCGATCTGC	0.512																																						uc003fle.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1333-1335)CAG>CGG		methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	Biotin(DB00121)						137.0	113.0	121.0					3																	182756857		2203	4300	6503	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182756857T>C	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1334A>G	3.37:g.182756857T>C	ENSP00000265594:p.Gln445Arg					MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.Q328R|MCCC1_uc003flg.2_Missense_Mutation_p.Q336R|MCCC1_uc011bqp.1_Missense_Mutation_p.Q398R	p.Q445R	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		12	1471	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		445			Biotin carboxylation.		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.1334A>G	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.161845	0.38217	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.82	4.64	0.57946	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.267486	0.44483	D	0.000453	T	0.74076	0.3669	L	0.33753	1.03	0.37497	D	0.916629	P;P;B	0.37594	0.601;0.459;0.311	B;B;B	0.40506	0.331;0.178;0.158	T	0.75442	-0.3316	10	0.42905	T	0.14	.	13.0527	0.58964	0.0:0.0:0.1345:0.8655	.	398;336;445	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	R	445;336;295;310;398;398	ENSP00000265594:Q445R;ENSP00000419898:Q336R;ENSP00000441253:Q310R;ENSP00000420433:Q398R	ENSP00000265594:Q445R	Q	-	2	0	MCCC1	184239551	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	3.253000	0.51469	1.001000	0.39076	0.533000	0.62120	CAG		PASS	0.512	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		50	38	50	38	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192635441	192635441	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:192635441C>A	ENST00000392452.2	-	1	509	c.189G>T	c.(187-189)aaG>aaT	p.K63N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	63							protein complex binding (GO:0032403)	p.K61N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						AGATGAAATCCTTGGCTGTGT	0.517																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)AAG>AAT		hypothetical protein LOC151963							120.0	106.0	111.0					3																	192635441		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192635441C>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.189G>T	3.37:g.192635441C>A	ENSP00000376246:p.Lys63Asn						p.K63N	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	1	510	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		63					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.189G>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132932	0.77662	.	.	ENSG00000180611	ENST00000392452	T	0.59364	0.27	5.47	3.65	0.41850	.	0.052835	0.85682	D	0.000000	T	0.70055	0.3180	L	0.61218	1.895	0.53688	D	0.999978	D	0.71674	0.998	D	0.75484	0.986	T	0.72424	-0.4298	10	0.72032	D	0.01	.	10.4401	0.44460	0.0:0.8404:0.0:0.1596	.	63	Q8IYB1	M21D2_HUMAN	N	63	ENSP00000376246:K63N	ENSP00000376246:K63N	K	-	3	2	MB21D2	194118135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.103000	0.50298	1.447000	0.47661	0.591000	0.81541	AAG		PASS	0.517	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		6	78	6	78	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062993	194062993	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:194062993G>A	ENST00000323830.3	-	2	528	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	CPN2_ENST00000429275.1_Silent_p.L147L	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	147					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)	p.L147L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGGACTCCAGGGCAGCCAGG	0.612																																						uc003fts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(439-441)CTG>TTG		carboxypeptidase N, polypeptide 2							48.0	45.0	46.0					3																	194062993		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062993G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.439C>T	3.37:g.194062993G>A							p.L147L	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	529	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		147			LRR 3.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.439C>T	CCDS33920.1																																																																																				PASS	0.612	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		8	32	8	32	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080603	194080603	+	Silent	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:194080603G>C	ENST00000347624.3	-	2	1255	c.1170C>G	c.(1168-1170)ggC>ggG	p.G390G	LRRC15_ENST00000439944.2_Silent_p.G396G|LRRC15_ENST00000428839.1_Silent_p.G396G	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	390					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.G390G(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGCCATGAGGCCATTGACGT	0.562																																						uc003ftu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1168-1170)GGC>GGG		leucine rich repeat containing 15 isoform b							57.0	55.0	56.0					3																	194080603		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080603G>C	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1170C>G	3.37:g.194080603G>C						LRRC15_uc003ftt.2_Silent_p.G396G	p.G390G	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1256	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		390			LRR 15.|Extracellular (Potential).		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1170C>G	CCDS3306.1																																																																																				PASS	0.562	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			8	32	8	32	---	---	---	---
TM4SF19	116211	broad.mit.edu	37	3	196050764	196050764	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:196050764A>T	ENST00000273695.3	-	5	679	c.554T>A	c.(553-555)cTg>cAg	p.L185Q	TM4SF19_ENST00000446879.1_Missense_Mutation_p.C184S|TM4SF19_ENST00000442633.1_Missense_Mutation_p.L185Q|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L159Q|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	185						integral component of membrane (GO:0016021)		p.L185Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AAGCTGGAGCAGGCTGATGCA	0.572																																						uc003fwl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CTG>CAG		transmembrane 4 L six family member 19							96.0	90.0	92.0					3																	196050764		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196050764A>T	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.554T>A	3.37:g.196050764A>T	ENSP00000273695:p.Leu185Gln					TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.Q10L|TM4SF19_uc010iad.1_Missense_Mutation_p.C184S|TM4SF19_uc011btv.1_Missense_Mutation_p.L159Q	p.L185Q	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	5	679	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		185			Helical; (Potential).		B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.554T>A	CCDS3316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.92|15.92	2.975103|2.975103	0.53720|0.53720	.|.	.|.	ENSG00000145107|ENSG00000145107	ENST00000446879|ENST00000454715;ENST00000273695	T|T;T	0.26067|0.31769	1.76|1.48;1.48	5.13|5.13	3.98|3.98	0.46160|0.46160	.|.	.|1.191600	.|0.05974	.|N	.|0.642959	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.59436|0.59436	1.845|1.845	0.33189|0.33189	D|D	0.550542|0.550542	B|P;P	0.02656|0.47484	0.0|0.857;0.896	B|P;P	0.04013|0.52514	0.001|0.701;0.694	T|T	0.29549|0.29549	-1.0008|-1.0008	9|10	0.13108|0.48119	T|T	0.6|0.1	-2.15|-2.15	7.4781|7.4781	0.27390|0.27390	0.9013:0.0:0.0987:0.0|0.9013:0.0:0.0987:0.0	.|.	184|159;185	C9JCD5|E9PH22;Q96DZ7	.|.;T4S19_HUMAN	S|Q	184|159;185	ENSP00000395280:C184S|ENSP00000387728:L159Q;ENSP00000273695:L185Q	ENSP00000395280:C184S|ENSP00000273695:L185Q	C|L	-|-	1|2	0|0	TM4SF19|TM4SF19	197535161|197535161	0.660000|0.660000	0.27420|0.27420	0.957000|0.957000	0.39632|0.39632	0.918000|0.918000	0.54935|0.54935	1.534000|1.534000	0.36051|0.36051	0.804000|0.804000	0.34136|0.34136	0.460000|0.460000	0.39030|0.39030	TGC|CTG		PASS	0.572	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461		11	73	11	73	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197410253	197410253	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr3:197410253C>T	ENST00000296343.5	-	13	1904	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	KIAA0226_ENST00000273582.5_Silent_p.K590K|KIAA0226_ENST00000389665.5_Silent_p.K660K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	635					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.K590K(1)|p.K635K(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTCAAACTGCTTCAGGAGCC	0.597																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1903-1905)AAG>AAA		hypothetical protein LOC9711 isoform 2.							53.0	60.0	58.0					3																	197410253		2000	4166	6166	SO:0001819	synonymous_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197410253C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1905G>A	3.37:g.197410253C>T						KIAA0226_uc003fyd.3_Silent_p.K590K|KIAA0226_uc003fye.1_Silent_p.K367K	p.K635K	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	13	2088	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		635					Q96CK5	Silent	SNP	ENST00000296343.5	37	c.1905G>A	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.83|10.83	1.461218|1.461218	0.26248|0.26248	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|.	.|.	.|.	.|.	T|T	0.75354|0.75354	0.3838|0.3838	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73588|0.73588	-0.3935|-0.3935	4|4	.|.	.|.	.|.	.|.	19.3188|19.3188	0.94229|0.94229	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|N	597|419	.|.	.|.	A|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198894650|198894650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.997000|3.997000	0.57016|0.57016	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	GCA|AGC		PASS	0.597	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		15	53	15	53	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2274976	2274976	+	Silent	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:2274976C>G	ENST00000290974.2	-	10	2586	c.2247G>C	c.(2245-2247)ctG>ctC	p.L749L	ZFYVE28_ENST00000508471.1_Silent_p.L54L|ZFYVE28_ENST00000511071.1_Silent_p.L719L|ZFYVE28_ENST00000515312.1_Silent_p.L679L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	749					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L749L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GAATACTTCTCAGGTCACTGG	0.527																																						uc003gex.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2245-2247)CTG>CTC		zinc finger, FYVE domain containing 28							164.0	165.0	164.0					4																	2274976		2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2274976C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2247G>C	4.37:g.2274976C>G						ZFYVE28_uc011bvk.1_Silent_p.L679L|ZFYVE28_uc011bvl.1_Silent_p.L719L|ZFYVE28_uc003gew.1_Silent_p.L635L	p.L749L	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			10	2566	-			749					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.2247G>C	CCDS33942.1																																																																																				PASS	0.527	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		4	47	4	47	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3319286	3319286	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:3319286G>T	ENST00000344733.5	+	2	2293	c.1389G>T	c.(1387-1389)agG>agT	p.R463S	RGS12_ENST00000336727.3_Missense_Mutation_p.R463S|RGS12_ENST00000382788.3_Missense_Mutation_p.R463S|RGS12_ENST00000543385.1_Missense_Mutation_p.R463S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	463					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.R463S(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGGTGGGAGGGGTGCCCAGC	0.687																																						uc003ggw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1387-1389)AGG>AGT		regulator of G-protein signalling 12 isoform 1							35.0	43.0	40.0					4																	3319286		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319286G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1389G>T	4.37:g.3319286G>T	ENSP00000339381:p.Arg463Ser					RGS12_uc003ggu.2_Missense_Mutation_p.R463S|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R463S|RGS12_uc003ggx.1_Missense_Mutation_p.R463S	p.R463S	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2293	+			463					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1389G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	2.662	-0.279636	0.05642	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.33654	1.4;1.55;1.55;1.55	4.4	1.08	0.20341	.	0.125321	0.52532	D	0.000064	T	0.30916	0.0780	L	0.59436	1.845	0.21719	N	0.999574	B;B;B	0.21225	0.011;0.031;0.053	B;B;B	0.17722	0.009;0.006;0.019	T	0.24119	-1.0169	10	0.44086	T	0.13	-21.7182	9.1412	0.36906	0.366:0.0:0.634:0.0	.	463;463;463	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	S	463	ENSP00000440566:R463S;ENSP00000339381:R463S;ENSP00000338509:R463S;ENSP00000372238:R463S	ENSP00000338509:R463S	R	+	3	2	RGS12	3289084	0.995000	0.38212	0.006000	0.13384	0.064000	0.16182	0.763000	0.26517	0.299000	0.22661	-0.424000	0.05967	AGG		PASS	0.687	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	15	8	15	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5699318	5699318	+	Splice_Site	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:5699318A>G	ENST00000344408.5	-	2	337		c.e2+1		EVC2_ENST00000344938.1_Splice_Site|EVC2_ENST00000310917.2_Splice_Site	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2						smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGAAAAACTCACCTGCAGTCT	0.448																																						uc003gij.2																			1	Unknown(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.e2+1		limbin							124.0	110.0	115.0					4																	5699318		2203	4300	6503	SO:0001630	splice_region_variant	132884					integral to membrane		g.chr4:5699318A>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.283+1T>C	4.37:g.5699318A>G						EVC2_uc011bwb.1_Splice_Site|EVC2_uc003gik.2_Splice_Site_p.V15_splice	p.V95_splice	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			2	337	-								Q86YT3|Q86YT4|Q8NG49	Splice_Site	SNP	ENST00000344408.5	37	c.283_splice	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823909	0.32237	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5029	0.39028	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EVC2	5750219	0.590000	0.26815	0.108000	0.21378	0.129000	0.20672	2.859000	0.48364	1.549000	0.49425	0.533000	0.62120	.		PASS	0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	Intron	13	17	13	17	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6080723	6080723	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:6080723C>A	ENST00000282924.5	-	8	1730	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E250D|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E415D|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E415D	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	415	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E415D(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCGTTCTCTCTCCTAGAAGG	0.577																																						uc003giu.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1243-1245)GAG>GAT		janus kinase and microtubule interacting protein							92.0	74.0	80.0					4																	6080723		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6080723C>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1245G>T	4.37:g.6080723C>A	ENSP00000282924:p.Glu415Asp					JAKMIP1_uc010idb.1_Missense_Mutation_p.E415D|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.E415D|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E250D|JAKMIP1_uc003giv.3_Missense_Mutation_p.E415D|JAKMIP1_uc010ide.2_Missense_Mutation_p.E415D	p.E415D	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			8	1521	-			415			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1245G>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556239	0.27827	.	.	ENSG00000152969	ENST00000409021;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T	0.33654	1.84;1.82;1.82;1.4	5.24	2.08	0.27032	.	0.000000	0.64402	D	0.000001	T	0.43055	0.1230	L	0.43152	1.355	0.36231	D	0.852655	D;B;D;B	0.61697	0.99;0.008;0.99;0.008	D;B;D;B	0.70935	0.971;0.009;0.971;0.009	T	0.44314	-0.9336	10	0.25106	T	0.35	.	6.9031	0.24293	0.0:0.5888:0.0:0.4112	.	250;415;415;415	B4DHZ8;F2Z2K5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	D	415;415;307;415;415;250	ENSP00000386711:E415D;ENSP00000282924:E415D;ENSP00000386925:E415D;ENSP00000386745:E250D	ENSP00000282924:E415D	E	-	3	2	JAKMIP1	6131624	0.958000	0.32768	1.000000	0.80357	0.923000	0.55619	0.089000	0.15002	0.582000	0.29556	0.655000	0.94253	GAG		PASS	0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		7	18	7	18	---	---	---	---
PPP2R2C	5522	broad.mit.edu	37	4	6374278	6374278	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:6374278C>A	ENST00000382599.4	-	5	813	c.597G>T	c.(595-597)tgG>tgT	p.W199C	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.W192C|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.W199C|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.W182C|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.W192C			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	199					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.W199C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGGCCAGGTGCCAGAGGTTGA	0.577																																						uc003gjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(595-597)TGG>TGT		gamma isoform of regulatory subunit B55, protein							171.0	136.0	147.0					4																	6374278		2203	4300	6503	SO:0001583	missense	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6374278C>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.597G>T	4.37:g.6374278C>A	ENSP00000372042:p.Trp199Cys					PPP2R2C_uc003gjb.2_Missense_Mutation_p.W182C|PPP2R2C_uc011bwd.1_Missense_Mutation_p.W192C|PPP2R2C_uc011bwe.1_Missense_Mutation_p.W192C|PPP2R2C_uc003gja.2_Missense_Mutation_p.W199C|PPP2R2C_uc003gjd.1_Missense_Mutation_p.W287C	p.W199C	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			5	967	-			199			WD 3.		A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.597G>T		.	.	.	.	.	.	.	.	.	.	C	21.0	4.085631	0.76642	.	.	ENSG00000074211	ENST00000335585;ENST00000506140;ENST00000515571;ENST00000382599;ENST00000507294	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.18	4.18	0.49190	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.143577	0.53938	D	0.000047	T	0.76169	0.3950	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.83855	0.0265	10	0.87932	D	0	-26.3628	16.0314	0.80579	0.0:1.0:0.0:0.0	.	192;295;199;182;199	B7Z3Y1;Q59GC6;Q9Y2T4;Q9Y2T4-3;Q9Y2T4-2	.;.;2ABG_HUMAN;.;.	C	199;192;182;199;192	ENSP00000335083:W199C;ENSP00000423649:W192C;ENSP00000422374:W182C;ENSP00000372042:W199C;ENSP00000425247:W192C	ENSP00000335083:W199C	W	-	3	0	PPP2R2C	6425179	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.048000	0.76606	2.327000	0.79052	0.462000	0.41574	TGG		PASS	0.577	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		15	55	15	55	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13603499	13603499	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:13603499T>C	ENST00000040738.5	-	10	5160	c.5025A>G	c.(5023-5025)gaA>gaG	p.E1675E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1675						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E1675E(1)									TAATAGTTCCTTCAACTATTT	0.393																																						uc003gmz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(5023-5025)GAA>GAG		biorientation of chromosomes in cell division							184.0	208.0	200.0					4																	13603499		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603499T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5025A>G	4.37:g.13603499T>C						BOD1L_uc010idr.1_Silent_p.E1012E	p.E1675E	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5142	-			1675					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.5025A>G	CCDS3411.2																																																																																				PASS	0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		27	129	27	129	---	---	---	---
FGFBP1	9982	broad.mit.edu	37	4	15937711	15937711	+	Missense_Mutation	SNP	G	G	C	rs143807110		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:15937711G>C	ENST00000382333.1	-	3	839	c.545C>G	c.(544-546)tCt>tGt	p.S182C	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S182C	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	182					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.S182C(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGCTAGGCTAGAGGGGGTGGT	0.547																																						uc003gom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)TCT>TGT		fibroblast growth factor binding protein 1							110.0	108.0	109.0					4																	15937711		2203	4300	6503	SO:0001583	missense	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15937711G>C	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.545C>G	4.37:g.15937711G>C	ENSP00000371770:p.Ser182Cys						p.S182C	NM_005130	NP_005121	Q14512	FGFP1_HUMAN			2	663	-			182					A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	c.545C>G	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501585	0.44455	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.15487	2.42;2.42	5.55	-0.577	0.11727	.	1.960060	0.02195	N	0.061680	T	0.32071	0.0817	L	0.57536	1.79	0.09310	N	1	D	0.63046	0.992	P	0.57371	0.819	T	0.18935	-1.0321	10	0.62326	D	0.03	-10.3166	6.7329	0.23393	0.2092:0.3447:0.4461:0.0	.	182	Q14512	FGFP1_HUMAN	C	182	ENSP00000371770:S182C;ENSP00000259988:S182C	ENSP00000259988:S182C	S	-	2	0	FGFBP1	15546809	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.636000	0.24644	-0.489000	0.06716	-0.148000	0.13756	TCT		PASS	0.547	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		13	56	13	56	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504481	16504481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:16504481C>A	ENST00000304523.5	-	8	1230	c.907G>T	c.(907-909)Gga>Tga	p.G303*	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000503178.2_3'UTR|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Nonsense_Mutation_p.G301*	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	303	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.G303*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GTTGGCTCTCCTACCACCATC	0.493																																						uc003goz.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(907-909)GGA>TGA		LIM domain binding 2 isoform a							172.0	155.0	161.0					4																	16504481		2203	4300	6503	SO:0001587	stop_gained	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504481C>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.907G>T	4.37:g.16504481C>A	ENSP00000306772:p.Gly303*					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Nonsense_Mutation_p.G301*|LDB2_uc011bxh.1_Nonsense_Mutation_p.G275*|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Nonsense_Mutation_p.G178*|LDB2_uc011bxi.1_3'UTR	p.G303*	NM_001290	NP_001281	O43679	LDB2_HUMAN			8	1223	-			303			LIM-binding domain (LID) (By similarity).		O60619|O75480	Nonsense_Mutation	SNP	ENST00000304523.5	37	c.907G>T	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.130646|7.130646	0.98085|0.98085	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000304523|ENST00000507464	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.59425|.	D|.	0.04|.	-13.307|-13.307	18.6327|18.6327	0.91366|0.91366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	301;303|223	.|.	ENSP00000306772:G303X|.	G|X	-|-	1|3	0|2	LDB2|LDB2	16113579|16113579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	GGA|TAG		PASS	0.493	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			10	73	10	73	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20620527	20620527	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:20620527G>T	ENST00000504154.1	+	37	4737	c.4485G>T	c.(4483-4485)ctG>ctT	p.L1495L	SLIT2_ENST00000273739.5_Silent_p.L1508L|SLIT2_ENST00000503837.1_Silent_p.L1491L|SLIT2_ENST00000503823.1_Silent_p.L1487L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1495	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.L1495L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGGACCGCTGAGGAGCAAGC	0.557																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4483-4485)CTG>CTT		slit homolog 2 precursor							132.0	110.0	117.0					4																	20620527		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20620527G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4485G>T	4.37:g.20620527G>T						SLIT2_uc003gps.1_Silent_p.L1487L	p.L1495L	NM_004787	NP_004778	O94813	SLIT2_HUMAN			37	4689	+			1495			CTCK.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.4485G>T	CCDS3426.1																																																																																				PASS	0.557	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			10	17	10	17	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46388100	46388100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:46388100C>A	ENST00000510861.1	-	3	351	c.178G>T	c.(178-180)Gga>Tga	p.G60*	GABRA2_ENST00000507460.1_Nonsense_Mutation_p.G60*|GABRA2_ENST00000356504.1_Nonsense_Mutation_p.G60*|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000514090.1_Nonsense_Mutation_p.G60*|GABRA2_ENST00000507069.1_Nonsense_Mutation_p.G60*|GABRA2_ENST00000515082.1_Nonsense_Mutation_p.G60*|GABRA2_ENST00000540012.1_Missense_Mutation_p.Q27H|GABRA2_ENST00000381620.4_Nonsense_Mutation_p.G60*			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	60					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.G60*(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)	CCTCCCAGTCCTGGTCTAAGC	0.333																																						uc003gxc.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(178-180)GGA>TGA		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)						76.0	72.0	73.0					4																	46388100		2203	4300	6503	SO:0001587	stop_gained	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.chr4:46388100C>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.178G>T	4.37:g.46388100C>A	ENSP00000421828:p.Gly60*					GABRA2_uc010igc.2_Nonsense_Mutation_p.G60*|GABRA2_uc011bzc.1_Missense_Mutation_p.Q27H|GABRA2_uc003gxe.2_Nonsense_Mutation_p.G60*|GABRA2_uc010igd.1_Nonsense_Mutation_p.G60*	p.G60*	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			2	851	-			60			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Nonsense_Mutation	SNP	ENST00000510861.1	37	c.178G>T	CCDS3471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939837|4.939837	0.92526|0.92526	.|.	.|.	ENSG00000151834|ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460|ENST00000540012	.|T	.|0.78246	.|-1.16	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.062472|.	0.64402|.	D|.	0.000005|.	.|T	.|0.73281	.|0.3567	.|.	.|.	.|.	0.23916|0.23916	N|N	0.996476|0.996476	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	.|T	.|0.65747	.|-0.6093	.|8	0.87932|0.72032	D|D	0|0.01	.|.	17.4821|17.4821	0.87675|0.87675	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|27	.|B7Z1H8	.|.	X|H	60|27	.|ENSP00000444409:Q27H	ENSP00000348897:G60X|ENSP00000444409:Q27H	G|Q	-|-	1|3	0|2	GABRA2|GABRA2	46082857|46082857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.750000|6.750000	0.74888|0.74888	2.598000|2.598000	0.87819|0.87819	0.585000|0.585000	0.79938|0.79938	GGA|CAG		PASS	0.333	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			11	27	11	27	---	---	---	---
TEC	7006	broad.mit.edu	37	4	48230636	48230636	+	De_novo_Start_InFrame	SNP	G	G	A	rs375679442		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:48230636G>A	ENST00000381501.3	-	0	153					NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTCATCTCCGTCTTCTGATT	0.353																																						uc003gxz.2																			0				lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)	9						c.(-6--2)GACGG>GATGG		tec protein tyrosine kinase		G		0,4406		0,0,2203	88.0	90.0	90.0			4.6	1.0	4		90	1,8599	2.2+/-6.3	0,1,4299	no	utr-5	TEC	NM_003215.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			48230636	1,13005	2203	4300	6503			7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48230636G>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623		4.37:g.48230636G>A								NM_003215	NP_003206	P42680	TEC_HUMAN			2	87	-								B7ZKZ6|Q3MIS5	Translation_Start_Site	SNP	ENST00000381501.3	37	c.-4C>T	CCDS3481.1																																																																																				PASS	0.353	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			5	56	5	56	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49052848	49052848	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:49052848A>C	ENST00000226432.4	+	15	2186	c.2003A>C	c.(2002-2004)aAa>aCa	p.K668T	CWH43_ENST00000513409.1_Missense_Mutation_p.K641T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	668					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.K668T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTTCTGAGAAAATTCATTTT	0.393																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2002-2004)AAA>ACA		cell wall biogenesis 43 C-terminal homolog							43.0	44.0	44.0					4																	49052848		2201	4298	6499	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49052848A>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.2003A>C	4.37:g.49052848A>C	ENSP00000226432:p.Lys668Thr					CWH43_uc011bzl.1_Missense_Mutation_p.K641T	p.K668T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			15	2185	+			668					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.2003A>C	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	0.876	-0.730402	0.03135	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44083	1.52;0.93	5.13	1.52	0.23074	.	1.002500	0.08038	N	0.994560	T	0.24851	0.0603	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.15870	0.014	T	0.25257	-1.0137	9	.	.	.	.	8.2538	0.31743	0.76:0.0:0.24:0.0	.	668	Q9H720	PG2IP_HUMAN	T	668;641	ENSP00000226432:K668T;ENSP00000422802:K641T	.	K	+	2	0	CWH43	48747605	0.938000	0.31826	0.012000	0.15200	0.012000	0.07955	2.145000	0.42207	0.517000	0.28361	-0.256000	0.11100	AAA		PASS	0.393	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		8	39	8	39	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52883611	52883611	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:52883611C>A	ENST00000343457.3	-	1	175	c.169G>T	c.(169-171)Gac>Tac	p.D57Y		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	57						integral component of membrane (GO:0016021)		p.D57Y(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGTGATATGTCCACAGGTATA	0.338																																						uc003gzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(169-171)GAC>TAC		leucine rich repeat containing 66							65.0	66.0	65.0					4																	52883611		1845	4093	5938	SO:0001583	missense	339977					integral to membrane		g.chr4:52883611C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.169G>T	4.37:g.52883611C>A	ENSP00000341944:p.Asp57Tyr						p.D57Y	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			1	182	-			57						Missense_Mutation	SNP	ENST00000343457.3	37	c.169G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	9.199	1.028010	0.19512	.	.	ENSG00000188993	ENST00000343457	T	0.54071	0.59	5.01	3.25	0.37280	.	0.483175	0.17526	N	0.171065	T	0.52224	0.1721	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	P	0.56216	0.794	T	0.40001	-0.9586	10	0.72032	D	0.01	-6.7561	7.9181	0.29829	0.0:0.7458:0.1676:0.0866	.	57	Q68CR7	LRC66_HUMAN	Y	57	ENSP00000341944:D57Y	ENSP00000341944:D57Y	D	-	1	0	LRRC66	52578368	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	1.689000	0.37700	0.669000	0.31146	0.650000	0.86243	GAC		PASS	0.338	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		18	23	18	23	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55602887	55602887	+	Splice_Site	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:55602887G>C	ENST00000288135.5	+	19	2694	c.2597G>C	c.(2596-2598)gGa>gCa	p.G866A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G866A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGTCTCAGGAAGCAGCCCC	0.473		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		1	Substitution - Missense(1)		lung(1)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2596-2598)GGA>GCA		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						103.0	100.0	101.0					4																	55602887		2203	4300	6503	SO:0001630	splice_region_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602887G>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2597-1G>C	4.37:g.55602887G>C						KIT_uc010igs.2_Missense_Mutation_p.G862A	p.G866A	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	19	2684	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		866			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2597G>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762958	0.89932	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.92647	-3.08;-3.08	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000026	D	0.93337	0.7876	N	0.26042	0.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92301	0.5849	9	.	.	.	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	862;866	P10721-2;P10721	.;KIT_HUMAN	A	866;862	ENSP00000288135:G866A;ENSP00000390987:G862A	.	G	+	2	0	KIT	55297644	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.614000	0.98353	2.625000	0.88918	0.655000	0.94253	GGA		PASS	0.473	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Missense_Mutation	35	96	35	96	---	---	---	---
EXOC1	55763	broad.mit.edu	37	4	56768606	56768606	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:56768606G>T	ENST00000381295.2	+	18	2782	c.2434G>T	c.(2434-2436)Gtc>Ttc	p.V812F	EXOC1_ENST00000349598.6_Missense_Mutation_p.V797F|EXOC1_ENST00000346134.7_Missense_Mutation_p.V812F	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	812					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V812F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACTTCGTAAAGTCATTAAGGA	0.388																																						uc003hbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(2434-2436)GTC>TTC		exocyst complex component 1 isoform 1							110.0	112.0	111.0					4																	56768606		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768606G>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2434G>T	4.37:g.56768606G>T	ENSP00000370695:p.Val812Phe					EXOC1_uc003hbf.1_Missense_Mutation_p.V812F|EXOC1_uc003hbg.1_Missense_Mutation_p.V797F	p.V812F	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			18	2592	+	Glioma(25;0.08)|all_neural(26;0.101)		812					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2434G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860965	0.71949	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.73598	2.24	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.79108	0.808;0.992	T	0.81816	-0.0759	9	0.87932	D	0	.	19.6075	0.95586	0.0:0.0:1.0:0.0	.	797;812	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	F	812;812;797	.	ENSP00000326514:V812F	V	+	1	0	EXOC1	56463363	1.000000	0.71417	0.995000	0.50966	0.154000	0.21943	9.476000	0.97823	2.640000	0.89533	0.585000	0.79938	GTC		PASS	0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		8	109	8	109	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66189906	66189906	+	Missense_Mutation	SNP	C	C	T	rs149835568		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:66189906C>T	ENST00000273854.3	-	18	3640	c.3040G>A	c.(3040-3042)Ggt>Agt	p.G1014S	EPHA5_ENST00000432638.2_Missense_Mutation_p.G851S|EPHA5_ENST00000354839.4_Missense_Mutation_p.G992S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1014	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.G1014S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCTGGTGACCGACAAGAGTC	0.428										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(3040-3042)GGT>AGT		ephrin receptor EphA5 isoform a precursor		C	SER/GLY,SER/GLY	3,4403	6.2+/-15.9	0,3,2200	112.0	101.0	105.0		3040,2974	5.2	1.0	4	dbSNP_134	105	0,8600		0,0,4300	no	missense,missense	EPHA5	NM_004439.5,NM_182472.2	56,56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1014/1038,992/1016	66189906	3,13003	2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66189906C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3040G>A	4.37:g.66189906C>T	ENSP00000273854:p.Gly1014Ser	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.G946S|EPHA5_uc003hcz.2_Missense_Mutation_p.G992S|EPHA5_uc011cah.1_Missense_Mutation_p.G1015S|EPHA5_uc011cai.1_Missense_Mutation_p.G993S	p.G1014S	NM_004439	NP_004430	P54756	EPHA5_HUMAN			18	3233	-			1014			Cytoplasmic (Potential).|SAM.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.3040G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689861	0.88735	6.81E-4	0.0	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839	T;T;T	0.66815	-0.23;-0.23;-0.23	5.25	5.25	0.73442	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.56097	D	0.000037	D	0.82857	0.5128	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.971	D;D;D;P	0.97110	1.0;1.0;1.0;0.588	D	0.84944	0.0867	10	0.72032	D	0.01	.	18.8545	0.92246	0.0:1.0:0.0:0.0	.	993;1015;992;1014	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	1014;851;992	ENSP00000273854:G1014S;ENSP00000389208:G851S;ENSP00000346899:G992S	ENSP00000273854:G1014S	G	-	1	0	EPHA5	65872501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.446000	0.82766	0.557000	0.71058	GGT		PASS	0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		12	17	12	17	---	---	---	---
TMPRSS11D	9407	broad.mit.edu	37	4	68725388	68725388	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:68725388C>T	ENST00000283916.6	-	2	115	c.17G>A	c.(16-18)cGt>cAt	p.R6H	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	6					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R6H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGAAGTTACACGTGCTGGCCT	0.413																																						uc003hdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)CGT>CAT		transmembrane protease, serine 11D							92.0	81.0	85.0					4																	68725388		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725388C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.17G>A	4.37:g.68725388C>T	ENSP00000283916:p.Arg6His					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_Intron	p.R6H	NM_004262	NP_004253	O60235	TM11D_HUMAN			2	82	-			6			Cytoplasmic (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.17G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	7.516	0.655577	0.14580	.	.	ENSG00000153802	ENST00000283916	D	0.88201	-2.35	5.19	4.25	0.50352	.	0.588025	0.15270	N	0.271307	D	0.86535	0.5956	L	0.50333	1.59	0.18873	N	0.999983	D	0.61080	0.989	P	0.47470	0.548	T	0.75622	-0.3254	10	0.15066	T	0.55	.	11.3129	0.49375	0.0:0.7003:0.2997:0.0	.	6	O60235	TM11D_HUMAN	H	6	ENSP00000283916:R6H	ENSP00000283916:R6H	R	-	2	0	TMPRSS11D	68407983	0.001000	0.12720	0.024000	0.17045	0.073000	0.16967	0.780000	0.26760	1.140000	0.42260	0.563000	0.77884	CGT		PASS	0.413	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		14	34	14	34	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71469636	71469636	+	Missense_Mutation	SNP	G	G	T	rs141521373		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:71469636G>T	ENST00000322937.6	+	12	899	c.796G>T	c.(796-798)Gca>Tca	p.A266S	AMBN_ENST00000449493.2_Missense_Mutation_p.A251S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	266					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.A266S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGAAGAAGTGGCAGTGAGTAA	0.423																																						uc003hfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(796-798)GCA>TCA		ameloblastin precursor		G	SER/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	84.0	86.0		796	0.2	0.8	4	dbSNP_134	86	0,8600		0,0,4300	no	missense	AMBN	NM_016519.5	99	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	266/448	71469636	1,13005	2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71469636G>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.796G>T	4.37:g.71469636G>T	ENSP00000313809:p.Ala266Ser						p.A266S	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		12	871	+			266					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.796G>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136166	0.37728	2.27E-4	0.0	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.32753	1.44;1.44	5.56	0.233	0.15386	.	0.771739	0.11783	N	0.529990	T	0.26846	0.0657	L	0.51422	1.61	0.20975	N	0.999817	P	0.38280	0.625	B	0.37508	0.252	T	0.14559	-1.0468	10	0.27082	T	0.32	0.1696	11.5089	0.50483	0.0876:0.6685:0.2439:0.0	.	266	Q9NP70	AMBN_HUMAN	S	266;265;251	ENSP00000313809:A266S;ENSP00000391234:A251S	ENSP00000313809:A266S	A	+	1	0	AMBN	71504225	0.111000	0.22076	0.827000	0.32855	0.852000	0.48524	0.113000	0.15499	0.292000	0.22492	0.591000	0.81541	GCA		PASS	0.423	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		8	19	8	19	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72332198	72332198	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:72332198G>A	ENST00000264485.5	+	13	1652	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	SLC4A4_ENST00000340595.3_Missense_Mutation_p.G468E|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G512E|SLC4A4_ENST00000512686.1_Missense_Mutation_p.G468E|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G512E	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	512					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G468E(1)|p.G512E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCTGTCTCTGGAGCCATCTTT	0.403																																						uc003hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(1534-1536)GGA>GAA		solute carrier family 4, sodium bicarbonate							188.0	179.0	182.0					4																	72332198		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72332198G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1535G>A	4.37:g.72332198G>A	ENSP00000264485:p.Gly512Glu					SLC4A4_uc010iic.2_Missense_Mutation_p.G512E|SLC4A4_uc010iib.2_Missense_Mutation_p.G512E|SLC4A4_uc003hfz.2_Missense_Mutation_p.G512E|SLC4A4_uc003hgc.3_Missense_Mutation_p.G468E|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.G390E|SLC4A4_uc003hgb.3_Missense_Mutation_p.G468E	p.G512E	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	1652	+			512			Helical; (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1535G>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451519	0.96205	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.82	5.82	0.92795	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.96460	3.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.984;1.0;1.0;0.988	D;D;P;D;D;P	0.97110	1.0;1.0;0.888;1.0;0.999;0.85	D	0.95539	0.8610	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	512;512;468;468;492;512	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	E	512;512;512;468;468	ENSP00000264485:G512E;ENSP00000393557:G512E;ENSP00000307349:G512E;ENSP00000422400:G468E;ENSP00000344272:G468E	ENSP00000264485:G512E	G	+	2	0	SLC4A4	72551062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.756000	0.94617	0.563000	0.77884	GGA		PASS	0.403	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		23	40	23	40	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90169902	90169902	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:90169902T>C	ENST00000609438.1	-	2	1878	c.1360A>G	c.(1360-1362)Aag>Gag	p.K454E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.K454E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	454								p.K454E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCGAGCTTTTTAGCAGTT	0.453																																						uc003hsm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1360-1362)AAG>GAG		G protein-regulated inducer of neurite outgrowth							93.0	93.0	93.0					4																	90169902		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169902T>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1360A>G	4.37:g.90169902T>C	ENSP00000476603:p.Lys454Glu						p.K454E	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1879	-		Hepatocellular(203;0.114)	454					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1360A>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331781	0.24167	.	.	ENSG00000185477	ENST00000333209	T	0.09723	2.95	5.38	2.66	0.31614	.	0.876016	0.09268	N	0.825521	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44711	-0.9310	10	0.19590	T	0.45	0.1551	10.646	0.45621	0.0:0.257:0.599:0.144	.	454	Q6ZVF9	GRIN3_HUMAN	E	454	ENSP00000328672:K454E	ENSP00000328672:K454E	K	-	1	0	GPRIN3	90388925	0.009000	0.17119	0.001000	0.08648	0.006000	0.05464	1.311000	0.33562	0.363000	0.24346	-0.213000	0.12676	AAG		PASS	0.453	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	43	6	43	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96222890	96222890	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:96222890G>T	ENST00000453304.1	-	3	705	c.357C>A	c.(355-357)gtC>gtA	p.V119V	UNC5C_ENST00000504962.1_Silent_p.V119V|UNC5C_ENST00000506749.1_Silent_p.V119V	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	119	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.V119V(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCACTTCCCGGACAATGAGAC	0.448																																						uc003htp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(355-357)GTC>GTA		unc5C precursor							55.0	47.0	50.0					4																	96222890		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222890G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.357C>A	4.37:g.96222890G>T						UNC5C_uc010ilc.1_Silent_p.V119V|UNC5C_uc003htq.2_Silent_p.V119V	p.V119V	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	511	-		Hepatocellular(203;0.114)	119			Extracellular (Potential).|Ig-like.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.357C>A	CCDS3643.1																																																																																				PASS	0.448	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		5	17	5	17	---	---	---	---
METAP1	23173	broad.mit.edu	37	4	99960601	99960601	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:99960601G>A	ENST00000296411.6	+	5	551	c.417G>A	c.(415-417)atG>atA	p.M139I	METAP1_ENST00000544031.1_Missense_Mutation_p.M89I	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	139					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.M139I(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TAGAAGGGATGCGACTTGTAT	0.363																																						uc003huf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(415-417)ATG>ATA		methionyl aminopeptidase 1							143.0	134.0	137.0					4																	99960601		1828	4091	5919	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99960601G>A	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.417G>A	4.37:g.99960601G>A	ENSP00000296411:p.Met139Ile					METAP1_uc003hug.2_RNA	p.M139I	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	5	534	+			139					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.417G>A	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905122	0.52333	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	T;T	0.75477	-0.94;-0.94	4.94	4.94	0.65067	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.56769	1.78	0.80722	D	1	B	0.22683	0.073	B	0.32090	0.14	T	0.69266	-0.5190	9	.	.	.	-22.9146	18.3537	0.90348	0.0:0.0:1.0:0.0	.	139	P53582	AMPM1_HUMAN	I	139;89	ENSP00000296411:M139I;ENSP00000440993:M89I	.	M	+	3	0	METAP1	100179624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.732000	0.91534	2.574000	0.86865	0.650000	0.86243	ATG		PASS	0.363	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		15	48	15	48	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239869	126239869	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:126239869G>A	ENST00000394329.3	+	1	2316	c.2303G>A	c.(2302-2304)gGt>gAt	p.G768D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	768	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G768D(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTACTGATGGTGGCAATTTA	0.438																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(2302-2304)GGT>GAT		FAT tumor suppressor homolog 4 precursor							121.0	111.0	114.0					4																	126239869		1932	4138	6070	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239869G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2303G>A	4.37:g.126239869G>A	ENSP00000377862:p.Gly768Asp						p.G768D	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	2303	+			768			Cadherin 7.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2303G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054830	0.36277	.	.	ENSG00000196159	ENST00000394329	T	0.04454	3.62	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.35067	U	0.003471	T	0.24699	0.0599	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00503	-1.1701	10	0.38643	T	0.18	.	19.387	0.94560	0.0:0.0:1.0:0.0	.	768	Q6V0I7	FAT4_HUMAN	D	768	ENSP00000377862:G768D	ENSP00000377862:G768D	G	+	2	0	FAT4	126459319	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.666000	0.98612	2.572000	0.86782	0.655000	0.94253	GGT		PASS	0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		42	23	42	23	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126369935	126369935	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:126369935C>T	ENST00000394329.3	+	9	7777	c.7764C>T	c.(7762-7764)acC>acT	p.T2588T	FAT4_ENST00000335110.5_Silent_p.T886T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2588	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2588T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCACCACCATCACAGGAT	0.428																																						uc003ifj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(7762-7764)ACC>ACT		FAT tumor suppressor homolog 4 precursor							58.0	55.0	56.0					4																	126369935		2203	4299	6502	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369935C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7764C>T	4.37:g.126369935C>T						FAT4_uc011cgp.1_Silent_p.T886T|FAT4_uc003ifi.1_Silent_p.T66T	p.T2588T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	7764	+			2588			Extracellular (Potential).|Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.7764C>T	CCDS3732.3																																																																																				PASS	0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	28	13	28	---	---	---	---
SLC10A7	84068	broad.mit.edu	37	4	147247142	147247142	+	Missense_Mutation	SNP	C	C	A	rs147461877	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:147247142C>A	ENST00000507030.1	-	6	441	c.442G>T	c.(442-444)Gtt>Ttt	p.V148F	SLC10A7_ENST00000394062.3_Missense_Mutation_p.V148F|SLC10A7_ENST00000432059.2_Missense_Mutation_p.V135F|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Missense_Mutation_p.V148F			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	148					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.V148F(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GGTGTTATAACGATGCCCTGA	0.358																																						uc010ioz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GTT>TTT		solute carrier family 10 (sodium/bile acid							52.0	52.0	52.0					4																	147247142		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147247142C>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.442G>T	4.37:g.147247142C>A	ENSP00000421275:p.Val148Phe					SLC10A7_uc003ikr.2_Missense_Mutation_p.V148F|SLC10A7_uc010ipa.2_Missense_Mutation_p.V135F|SLC10A7_uc003iks.2_RNA	p.V148F	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			6	696	-	all_hematologic(180;0.151)		148			Helical; (Potential).		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.442G>T	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	C	5.735	0.320019	0.10845	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.71	-0.846	0.10734	.	0.466497	0.23881	N	0.043654	T	0.20941	0.0504	N	0.02708	-0.52	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.12837	0.004;0.008;0.002	T	0.38156	-0.9674	9	0.02654	T	1	-4.9215	11.7606	0.51900	0.0:0.555:0.0:0.445	.	135;148;148	Q0GE19-3;Q0GE19;Q0GE19-2	.;NTCP7_HUMAN;.	F	135;148;148;148	.	ENSP00000334594:V148F	V	-	1	0	SLC10A7	147466592	0.009000	0.17119	0.654000	0.29608	0.962000	0.63368	-1.258000	0.02863	-0.100000	0.12241	-0.134000	0.14843	GTT		PASS	0.358	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		6	10	6	10	---	---	---	---
DCLK2	166614	broad.mit.edu	37	4	151153526	151153526	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:151153526G>T	ENST00000296550.7	+	9	2091	c.1337G>T	c.(1336-1338)cGa>cTa	p.R446L	DCLK2_ENST00000506325.1_Missense_Mutation_p.R445L|DCLK2_ENST00000302176.8_Missense_Mutation_p.R463L	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R446L(1)|p.R463L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATACTGCGCCGAGTGAAACAT	0.448																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1336-1338)CGA>CTA		doublecortin-like kinase 2 isoform a							211.0	196.0	201.0					4																	151153526		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151153526G>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1337G>T	4.37:g.151153526G>T	ENSP00000296550:p.Arg446Leu					DCLK2_uc003iln.3_Missense_Mutation_p.R445L|DCLK2_uc003ilo.3_Missense_Mutation_p.R463L|DCLK2_uc003ilp.3_RNA	p.R446L	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			9	1437	+	all_hematologic(180;0.151)		446			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1337G>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032355	0.54790	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.66460	-0.21;-0.21;-0.21	6.02	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.295129	0.38111	N	0.001807	T	0.46425	0.1392	N	0.05280	-0.08	0.27346	N	0.956377	P;P;B	0.40302	0.638;0.712;0.087	B;B;B	0.43701	0.428;0.095;0.123	T	0.41161	-0.9524	10	0.44086	T	0.13	.	8.867	0.35291	0.3562:0.0:0.6438:0.0	.	463;445;446	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	L	446;445;463	ENSP00000296550:R446L;ENSP00000427235:R445L;ENSP00000303887:R463L	ENSP00000296550:R446L	R	+	2	0	DCLK2	151372976	0.772000	0.28567	0.338000	0.25549	0.983000	0.72400	0.812000	0.27211	0.410000	0.25675	-0.137000	0.14449	CGA		PASS	0.448	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		44	73	44	73	---	---	---	---
KLKB1	3818	broad.mit.edu	37	4	187172721	187172721	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr4:187172721G>C	ENST00000264690.6	+	9	1136	c.949G>C	c.(949-951)Gtt>Ctt	p.V317L	KLKB1_ENST00000513864.1_Missense_Mutation_p.V317L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	317	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V317L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGGAGTGAATGTTTGCCAAGA	0.363																																						uc003iyy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(949-951)GTT>CTT		plasma kallikrein B1 precursor							104.0	110.0	108.0					4																	187172721		2203	4299	6502	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187172721G>C	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.949G>C	4.37:g.187172721G>C	ENSP00000264690:p.Val317Leu					KLKB1_uc011clc.1_Missense_Mutation_p.V115L|KLKB1_uc011cld.1_Missense_Mutation_p.V279L	p.V317L	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	9	1020	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	317			Apple 4.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.949G>C	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.381|5.381	0.255555|0.255555	0.10185|0.10185	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88818	.|-2.43;-2.43	5.27|5.27	2.57|2.57	0.30868|0.30868	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|1.961310	.|0.02328	.|N	.|0.073626	T|T	0.76758|0.76758	0.4032|0.4032	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.09377	.|0.002;0.004;0.002	T|T	0.65500|0.65500	-0.6153|-0.6153	5|10	.|0.46703	.|T	.|0.11	.|.	9.3163|9.3163	0.37937|0.37937	0.1308:0.118:0.7512:0.0|0.1308:0.118:0.7512:0.0	.|.	.|279;317;317	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	I|L	364|317;317;279	.|ENSP00000264690:V317L;ENSP00000424469:V317L	.|ENSP00000264690:V317L	M|V	+|+	3|1	0|0	KLKB1|KLKB1	187409715|187409715	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.093000|0.093000	0.18481|0.18481	0.482000|0.482000	0.22276|0.22276	0.293000|0.293000	0.22520|0.22520	0.645000|0.645000	0.84053|0.84053	ATG|GTT		PASS	0.363	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		3	30	3	30	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5186325	5186325	+	Silent	SNP	T	T	C	rs532425132		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:5186325T>C	ENST00000274181.7	+	5	1062	c.924T>C	c.(922-924)caT>caC	p.H308H	ADAMTS16_ENST00000511368.1_Silent_p.H308H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	308	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H308H(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCATGGCCATGAAAATATCA	0.483													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17442	0.0		0.0	False		,,,				2504	0.0					uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(922-924)CAT>CAC		ADAM metallopeptidase with thrombospondin type 1							105.0	107.0	106.0					5																	5186325		2060	4206	6266	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186325T>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.924T>C	5.37:g.5186325T>C						ADAMTS16_uc003jdk.1_Silent_p.H308H|ADAMTS16_uc003jdj.1_Silent_p.H308H	p.H308H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			5	1062	+			308			Peptidase M12B.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.924T>C	CCDS43299.1																																																																																				PASS	0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		13	36	13	36	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7867883	7867883	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:7867883C>A	ENST00000264669.5	-	2	450	c.314G>T	c.(313-315)aGa>aTa	p.R105I	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	105					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R105I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTGCTCAGTCTCCTGTAAAA	0.438																																						uc003jeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(313-315)AGA>ATA		FAST kinase domains 3							60.0	58.0	58.0					5																	7867883		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867883C>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.314G>T	5.37:g.7867883C>A	ENSP00000264669:p.Arg105Ile					FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.R105I	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	451	-			105					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.314G>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879115	0.33162	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28895	1.59;1.59;1.59	4.43	-0.832	0.10785	.	0.787886	0.12473	N	0.465841	T	0.24470	0.0593	M	0.66939	2.045	0.19775	N	0.999955	P	0.47302	0.893	B	0.36504	0.226	T	0.15521	-1.0434	10	0.56958	D	0.05	-5.9256	5.7287	0.18028	0.0:0.2472:0.1597:0.5931	.	105	Q14CZ7	FAKD3_HUMAN	I	105;105;88	ENSP00000264669:R105I;ENSP00000426008:R105I;ENSP00000422443:R88I	ENSP00000264669:R105I	R	-	2	0	FASTKD3	7920883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.298000	0.08265	-0.064000	0.13043	-0.140000	0.14226	AGA		PASS	0.438	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		10	27	10	27	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13735337	13735337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:13735337G>T	ENST00000265104.4	-	68	11768	c.11664C>A	c.(11662-11664)taC>taA	p.Y3888*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3888					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.Y3888*(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)					TGTGCTCCTCGTACAGCCCTC	0.458									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11662-11664)TAC>TAA		dynein, axonemal, heavy chain 5							127.0	113.0	118.0					5																	13735337		2203	4300	6503	SO:0001587	stop_gained	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.chr5:13735337G>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.11664C>A	5.37:g.13735337G>T	ENSP00000265104:p.Tyr3888*					DNAH5_uc003jfc.2_Nonsense_Mutation_p.Y56*	p.Y3888*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			68	11706	-	Lung NSC(4;0.00476)		3888					Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.11664C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	52	18.936142	0.99912	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.61	-3.03	0.05429	.	0.182793	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2765	0.49170	0.6475:0.0:0.3525:0.0	.	.	.	.	X	3888	.	ENSP00000265104:Y3888X	Y	-	3	2	DNAH5	13788337	0.898000	0.30612	0.888000	0.34837	0.331000	0.28603	0.030000	0.13688	-0.721000	0.04929	-1.124000	0.02001	TAC		PASS	0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	37	15	37	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13864711	13864711	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:13864711T>A	ENST00000265104.4	-	28	4495	c.4391A>T	c.(4390-4392)cAg>cTg	p.Q1464L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1464	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1464L(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)					CAAAAAAGCCTGCCAGTCCTT	0.502									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4390-4392)CAG>CTG		dynein, axonemal, heavy chain 5							59.0	59.0	59.0					5																	13864711		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864711T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4391A>T	5.37:g.13864711T>A	ENSP00000265104:p.Gln1464Leu						p.Q1464L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			28	4433	-	Lung NSC(4;0.00476)		1464			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4391A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632723	0.67015	.	.	ENSG00000039139	ENST00000265104	T	0.61859	0.07	5.32	5.32	0.75619	Dynein heavy chain, domain-2 (1);	0.062472	0.64402	N	0.000003	T	0.64702	0.2622	M	0.79258	2.445	0.58432	D	0.999999	B	0.23650	0.089	B	0.34242	0.178	T	0.65129	-0.6243	10	0.49607	T	0.09	.	15.3301	0.74200	0.0:0.0:0.0:1.0	.	1464	Q8TE73	DYH5_HUMAN	L	1464	ENSP00000265104:Q1464L	ENSP00000265104:Q1464L	Q	-	2	0	DNAH5	13917711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.052000	0.64263	2.014000	0.59158	0.514000	0.50259	CAG		PASS	0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	38	5	38	---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16818205	16818205	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:16818205G>A	ENST00000513610.1	-	3	646	c.192C>T	c.(190-192)ggC>ggT	p.G64G	MYO10_ENST00000507288.1_Silent_p.G64G	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	64	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G64G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTCATCCACGCCCTCCTCGT	0.463																																						uc003jft.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(190-192)GGC>GGT		myosin X							71.0	71.0	71.0					5																	16818205		1991	4163	6154	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16818205G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.192C>T	5.37:g.16818205G>A						MYO10_uc003jfu.2_Silent_p.G31G|MYO10_uc003jfv.2_Silent_p.G64G	p.G64G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			3	660	-			64			Myosin head-like.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.192C>T	CCDS54834.1																																																																																				PASS	0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		5	30	5	30	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975358	21975358	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:21975358G>A	ENST00000382254.1	-	6	1454	c.368C>T	c.(367-369)cCt>cTt	p.P123L	CDH12_ENST00000504376.2_Missense_Mutation_p.P123L|CDH12_ENST00000522262.1_Missense_Mutation_p.P123L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P123L(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGTAGAAAGGTTTCTCTTC	0.443										HNSCC(59;0.17)																												uc010iuc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(367-369)CCT>CTT		cadherin 12, type 2 preproprotein							77.0	73.0	74.0					5																	21975358		2060	3872	5932	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975358G>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.368C>T	5.37:g.21975358G>A	ENSP00000371689:p.Pro123Leu	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.P123L|CDH12_uc003jgk.2_Missense_Mutation_p.P123L	p.P123L	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	826	-			123			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.368C>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839990	0.91117	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61980	0.06;0.06;0.06	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	M	0.84219	2.685	0.80722	D	1	P;D	0.76494	0.898;0.999	P;D	0.62955	0.643;0.909	D	0.83678	0.0170	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	123;123	B7Z2U6;P55289	.;CAD12_HUMAN	L	123	ENSP00000423577:P123L;ENSP00000371689:P123L;ENSP00000428786:P123L	ENSP00000371689:P123L	P	-	2	0	CDH12	22011115	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.357000	0.97099	2.414000	0.81942	0.484000	0.47621	CCT		PASS	0.443	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		11	50	11	50	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35705881	35705881	+	Missense_Mutation	SNP	C	C	T	rs200328258	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:35705881C>T	ENST00000356031.3	+	18	2790	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	SPEF2_ENST00000440995.2_Missense_Mutation_p.T874M|SPEF2_ENST00000509059.1_Missense_Mutation_p.T874M|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	879					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.T879M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAATTCTTACGACTGAAATA	0.269													C|||	3	0.000599042	0.0	0.0	5008	,	,		14576	0.0		0.0	False		,,,				2504	0.0031					uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2635-2637)ACG>ATG		KPL2 protein isoform 1		C	MET/THR	0,3570		0,0,1785	27.0	24.0	25.0		2636	2.5	0.0	5		25	1,8077		0,1,4038	no	missense	SPEF2	NM_024867.3	81	0,1,5823	TT,TC,CC		0.0124,0.0,0.0086	benign	879/1823	35705881	1,11647	1785	4039	5824	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35705881C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2636C>T	5.37:g.35705881C>T	ENSP00000348314:p.Thr879Met					SPEF2_uc003jjq.3_Missense_Mutation_p.T874M|SPEF2_uc003jjp.1_Missense_Mutation_p.T365M	p.T879M	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2747	+	all_lung(31;7.56e-05)		879			Potential.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2636C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	1.059	-0.673530	0.03403	0.0	1.24E-4	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.30182	3.15;3.25;3.38;1.54	5.77	2.47	0.30058	.	0.736937	0.13671	N	0.370869	T	0.11067	0.0270	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.15930	0.001;0.015;0.009	B;B;B	0.11329	0.0;0.006;0.001	T	0.25363	-1.0134	10	0.42905	T	0.14	.	6.4484	0.21890	0.0:0.287:0.0:0.713	.	874;874;879	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	M	879;874;874;385	ENSP00000348314:T879M;ENSP00000421593:T874M;ENSP00000412125:T874M;ENSP00000421744:T385M	ENSP00000348314:T879M	T	+	2	0	SPEF2	35741638	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	0.217000	0.20800	-0.145000	0.13849	ACG		PASS	0.269	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		6	24	6	24	---	---	---	---
DDX4	54514	broad.mit.edu	37	5	55110787	55110787	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:55110787C>A	ENST00000505374.1	+	20	1866	c.1774C>A	c.(1774-1776)Cca>Aca	p.P592T	DDX4_ENST00000511853.1_Missense_Mutation_p.P443T|DDX4_ENST00000354991.5_Missense_Mutation_p.P558T|DDX4_ENST00000514278.2_Missense_Mutation_p.P572T|DDX4_ENST00000353507.5_Missense_Mutation_p.P558T	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	592	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.P592T(2)|p.P443T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAAAGTGCCCAGTTCTTGT	0.403																																						uc003jqg.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(1774-1776)CCA>ACA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							116.0	119.0	118.0					5																	55110787		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55110787C>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1774C>A	5.37:g.55110787C>A	ENSP00000424838:p.Pro592Thr					DDX4_uc010ivz.2_Missense_Mutation_p.P572T|DDX4_uc003jqh.3_Missense_Mutation_p.P558T|DDX4_uc003jqj.2_Missense_Mutation_p.P443T	p.P592T	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			20	1848	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	592			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1774C>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939418	0.73557	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.56	5.56	0.83823	Helicase, C-terminal (3);	0.118006	0.56097	D	0.000021	T	0.80385	0.4613	N	0.25992	0.78	0.58432	D	0.999998	P;P;P;D	0.89917	0.657;0.645;0.661;1.0	B;P;B;D	0.75484	0.263;0.51;0.348;0.986	T	0.82080	-0.0634	10	0.62326	D	0.03	-14.9026	19.5314	0.95231	0.0:1.0:0.0:0.0	.	572;443;558;592	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	T	558;572;592;558;443	ENSP00000334167:P558T;ENSP00000425359:P572T;ENSP00000424838:P592T;ENSP00000347087:P558T;ENSP00000423123:P443T	ENSP00000334167:P558T	P	+	1	0	DDX4	55146544	1.000000	0.71417	0.994000	0.49952	0.671000	0.39405	5.604000	0.67626	2.618000	0.88619	0.462000	0.41574	CCA		PASS	0.403	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		16	43	16	43	---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56184162	56184162	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:56184162A>G	ENST00000399503.3	+	19	4367	c.4367A>G	c.(4366-4368)aAt>aGt	p.N1456S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1456	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.N1293S(1)|p.N1456S(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAACACTCCAATCATCTTGCT	0.388																																						uc003jqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4366-4368)AAT>AGT		mitogen-activated protein kinase kinase kinase							129.0	119.0	122.0					5																	56184162		1858	4092	5950	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56184162A>G	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4367A>G	5.37:g.56184162A>G	ENSP00000382423:p.Asn1456Ser						p.N1456S	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	19	4868	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1456			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4367A>G	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361960	0.82353	.	.	ENSG00000095015	ENST00000399503	T	0.65178	-0.14	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	L	0.28458	0.855	0.58432	D	0.999994	D	0.63046	0.992	D	0.65573	0.936	T	0.67177	-0.5736	10	0.35671	T	0.21	.	16.3908	0.83537	1.0:0.0:0.0:0.0	.	1456	Q13233	M3K1_HUMAN	S	1456	ENSP00000382423:N1456S	ENSP00000382423:N1456S	N	+	2	0	MAP3K1	56219919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.104000	0.89551	2.269000	0.75478	0.455000	0.32223	AAT		PASS	0.388	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		8	23	8	23	---	---	---	---
TRIM23	373	broad.mit.edu	37	5	64905270	64905270	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:64905270C>T	ENST00000231524.9	-	6	1215	c.844G>A	c.(844-846)Gag>Aag	p.E282K	TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000381018.3_Missense_Mutation_p.E282K|TRIM23_ENST00000274327.7_Missense_Mutation_p.E282K	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	282					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E282K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CGGGCATTCTCTGCAGTCCCT	0.348																																						uc003jty.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(844-846)GAG>AAG		ADP-ribosylation factor domain protein 1 isoform							61.0	57.0	58.0					5																	64905270		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64905270C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.844G>A	5.37:g.64905270C>T	ENSP00000231524:p.Glu282Lys					TRIM23_uc003jtw.2_Missense_Mutation_p.E282K|TRIM23_uc003jtx.2_Missense_Mutation_p.E282K	p.E282K	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	6	930	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	282					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.844G>A	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308872	0.95629	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74421	-0.77;-0.75;-0.84	5.38	5.38	0.77491	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.61703	1.905	0.80722	D	1	D;D;D	0.65815	0.978;0.995;0.987	P;D;P	0.64144	0.777;0.922;0.889	D	0.85493	0.1186	10	0.87932	D	0	.	19.4958	0.95072	0.0:1.0:0.0:0.0	.	282;282;282	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	K	282	ENSP00000231524:E282K;ENSP00000370406:E282K;ENSP00000274327:E282K	ENSP00000231524:E282K	E	-	1	0	TRIM23	64941026	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.414000	0.80117	2.681000	0.91329	0.650000	0.86243	GAG		PASS	0.348	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		8	17	8	17	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65342183	65342183	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:65342183C>A	ENST00000284037.5	+	18	1994	c.1605C>A	c.(1603-1605)acC>acA	p.T535T	ERBB2IP_ENST00000380938.2_Silent_p.T535T|ERBB2IP_ENST00000511297.1_Silent_p.T531T|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Silent_p.T535T|ERBB2IP_ENST00000380935.1_Silent_p.T535T|ERBB2IP_ENST00000380939.2_Silent_p.T535T|ERBB2IP_ENST00000380936.1_Silent_p.T535T|ERBB2IP_ENST00000506030.1_Silent_p.T535T|ERBB2IP_ENST00000508515.1_Silent_p.T535T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	535					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.T535T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTACTTAGACCTCAGAAAGTA	0.289																																						uc003juk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(1603-1605)ACC>ACA		ERBB2 interacting protein isoform 2							81.0	91.0	88.0					5																	65342183		2199	4299	6498	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65342183C>A		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1605C>A	5.37:g.65342183C>A						ERBB2IP_uc003juh.1_Silent_p.T531T|ERBB2IP_uc003jui.1_Silent_p.T535T|ERBB2IP_uc003juj.1_Silent_p.T535T|ERBB2IP_uc011cqx.1_Silent_p.T535T|ERBB2IP_uc011cqy.1_Silent_p.T535T|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.T531T|ERBB2IP_uc003jul.1_Silent_p.T531T	p.T535T	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	18	1913	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	535					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.1605C>A	CCDS58953.1																																																																																				PASS	0.289	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		30	58	30	58	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89989742	89989742	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:89989742G>C	ENST00000405460.2	+	33	7265	c.7169G>C	c.(7168-7170)aGt>aCt	p.S2390T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2390					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.S2390T(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)		TTGTTCTACAGTACTTCCGAC	0.438																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(7168-7170)AGT>ACT		G protein-coupled receptor 98 precursor							58.0	56.0	57.0					5																	89989742		1906	4126	6032	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.chr5:89989742G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7169G>C	5.37:g.89989742G>C	ENSP00000384582:p.Ser2390Thr					GPR98_uc003kjt.2_Missense_Mutation_p.S96T|GPR98_uc003kjv.2_5'UTR	p.S2390T	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)	33	7265	+		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)	2390			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7169G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766595	0.49574	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.35421	1.31	6.08	4.32	0.51571	.	0.213853	0.64402	D	0.000004	T	0.32615	0.0835	M	0.61703	1.905	0.80722	D	1	P	0.37914	0.611	B	0.28709	0.093	T	0.13656	-1.0501	10	0.52906	T	0.07	.	12.974	0.58527	0.1304:0.0:0.8696:0.0	.	2390	Q8WXG9	GPR98_HUMAN	T	2390	ENSP00000384582:S2390T	ENSP00000296619:S2390T	S	+	2	0	GPR98	90025498	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	5.574000	0.67424	0.914000	0.36822	0.591000	0.81541	AGT		PASS	0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	11	5	11	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90368330	90368330	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:90368330G>A	ENST00000405460.2	+	86	18315	c.18219G>A	c.(18217-18219)gtG>gtA	p.V6073V	GPR98_ENST00000425867.2_Silent_p.V1734V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6073					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.V6073V(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)		CGTGCCTCGTGGTGGTGTTCG	0.463																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18217-18219)GTG>GTA		G protein-coupled receptor 98 precursor							212.0	198.0	203.0					5																	90368330		2041	4204	6245	SO:0001819	synonymous_variant	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.chr5:90368330G>A	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.18219G>A	5.37:g.90368330G>A						GPR98_uc003kjt.2_Silent_p.V3779V|GPR98_uc003kjw.2_Silent_p.V1734V|GPR98_uc003kjx.2_Silent_p.V101V	p.V6073V	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)	86	18315	+		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)	6073			Helical; (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.18219G>A	CCDS47246.1																																																																																				PASS	0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		42	74	42	74	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98232003	98232003	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:98232003T>G	ENST00000284049.3	-	11	1786	c.1637A>C	c.(1636-1638)cAa>cCa	p.Q546P		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	546	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.Q546P(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATTTCCCTTTGCCAGGAAGT	0.363																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1636-1638)CAA>CCA		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						101.0	102.0	101.0					5																	98232003		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232003T>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1637A>C	5.37:g.98232003T>G	ENSP00000284049:p.Gln546Pro						p.Q546P	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	11	1785	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	546			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1637A>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370718	0.82573	.	.	ENSG00000153922	ENST00000284049	D	0.93763	-3.28	5.21	5.21	0.72293	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.32736	U	0.005702	D	0.97021	0.9027	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97649	1.0153	10	0.62326	D	0.03	.	15.3789	0.74637	0.0:0.0:0.0:1.0	.	546	O14646	CHD1_HUMAN	P	546	ENSP00000284049:Q546P	ENSP00000284049:Q546P	Q	-	2	0	CHD1	98259903	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.970000	0.88000	2.090000	0.63153	0.528000	0.53228	CAA		PASS	0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		11	23	11	23	---	---	---	---
FER	2241	broad.mit.edu	37	5	108207163	108207163	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:108207163G>C	ENST00000281092.4	+	7	1147	c.763G>C	c.(763-765)Gat>Cat	p.D255H	FER_ENST00000536402.1_Missense_Mutation_p.D255H|FER_ENST00000438717.2_Missense_Mutation_p.D80H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	255	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D255H(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGAACAGATAGATCCTAGTAC	0.323																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(763-765)GAT>CAT		fer (fps/fes related) tyrosine kinase							101.0	106.0	104.0					5																	108207163		2202	4298	6500	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108207163G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.763G>C	5.37:g.108207163G>C	ENSP00000281092:p.Asp255His					FER_uc011cve.1_Missense_Mutation_p.D195H|FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.D80H	p.D255H	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	7	1147	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	255			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.763G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893738	0.72639	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	T;T;T	0.55930	0.49;0.49;2.09	6.01	6.01	0.97437	.	0.040493	0.85682	D	0.000000	T	0.55513	0.1925	M	0.62723	1.935	0.58432	D	0.999996	P	0.46395	0.877	P	0.44772	0.46	T	0.59648	-0.7415	10	0.66056	D	0.02	-22.6134	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	255	P16591	FER_HUMAN	H	255;255;80	ENSP00000281092:D255H;ENSP00000442627:D255H;ENSP00000394297:D80H	ENSP00000281092:D255H	D	+	1	0	FER	108235062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.098000	0.71458	2.861000	0.98227	0.650000	0.86243	GAT		PASS	0.323	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		14	22	14	22	---	---	---	---
WDR36	134430	broad.mit.edu	37	5	110461440	110461440	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:110461440G>A	ENST00000513710.2	+	22	2657	c.2653G>A	c.(2653-2655)Gac>Aac	p.D885N	WDR36_ENST00000506538.2_Missense_Mutation_p.D885N			Q8NI36	WDR36_HUMAN	WD repeat domain 36	885					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D885N(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GATGATGCTGGACAGAAAGCG	0.453																																						uc003kpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2653-2655)GAC>AAC		WD repeat domain 36							166.0	161.0	163.0					5																	110461440		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110461440G>A	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2653G>A	5.37:g.110461440G>A	ENSP00000424628:p.Asp885Asn					WDR36_uc010jbu.2_RNA	p.D885N	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	22	2770	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	885					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2653G>A	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.327067	0.10900	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.76448	-1.02;-1.02	5.39	3.48	0.39840	Small-subunit processome, Utp21 (1);	0.549745	0.21922	N	0.067155	T	0.58163	0.2103	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59573	-0.7429	10	0.87932	D	0	-3.5768	5.9583	0.19286	0.1453:0.1982:0.6565:0.0	.	885	Q8NI36	WDR36_HUMAN	N	885	ENSP00000423067:D885N;ENSP00000424628:D885N	ENSP00000423067:D885N	D	+	1	0	WDR36	110489339	0.999000	0.42202	0.999000	0.59377	0.232000	0.25224	1.549000	0.36212	2.668000	0.90789	0.650000	0.86243	GAC		PASS	0.453	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		11	40	11	40	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822787	113822787	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:113822787T>A	ENST00000512097.3	+	7	2313	c.1295T>A	c.(1294-1296)cTa>cAa	p.L432Q	KCNN2_ENST00000503706.1_Missense_Mutation_p.L84Q|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.L432Q|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	432	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.L84Q(1)|p.L432Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GAAACATGGCTAATTTACAAA	0.333																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1294-1296)CTA>CAA		small conductance calcium-activated potassium							85.0	83.0	84.0					5																	113822787		2202	4299	6501	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113822787T>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1295T>A	5.37:g.113822787T>A	ENSP00000427120:p.Leu432Gln					KCNN2_uc003kqp.2_Missense_Mutation_p.L84Q|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.L432Q	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	6	1752	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	432			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1295T>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502019	0.85176	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	T;D	0.94828	1.83;-3.53	5.2	5.2	0.72013	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98272	1.0504	10	0.87932	D	0	.	15.029	0.71691	0.0:0.0:0.0:1.0	.	432	Q9H2S1	KCNN2_HUMAN	Q	432;84	ENSP00000264773:L432Q;ENSP00000421439:L84Q	ENSP00000264773:L432Q	L	+	2	0	KCNN2	113850686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.550000	0.82173	2.077000	0.62373	0.533000	0.62120	CTA		PASS	0.333	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		22	34	22	34	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127702111	127702111	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:127702111C>A	ENST00000508053.1	-	23	3235	c.2261G>T	c.(2260-2262)gGc>gTc	p.G754V	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.G754V|FBN2_ENST00000508989.1_Missense_Mutation_p.G721V			P35556	FBN2_HUMAN	fibrillin 2	754	TB 3.		G -> S (in DA9). {ECO:0000269|PubMed:19006240}.		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G754V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTACAAAGGCCGTGGAATTC	0.323																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2260-2262)GGC>GTC		fibrillin 2 precursor							57.0	56.0	56.0					5																	127702111		2203	4295	6498	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127702111C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2261G>T	5.37:g.127702111C>A	ENSP00000424571:p.Gly754Val					FBN2_uc003kuv.2_Missense_Mutation_p.G721V	p.G754V	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	17	2700	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	754		G -> S (in CCA).	TB 3.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2261G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555205	0.27739	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92858	-3.12;-3.12;-3.12	4.73	3.77	0.43336	Matrix fibril-associated (3);TGF-beta binding (1);	0.088574	0.46442	D	0.000297	D	0.86117	0.5856	N	0.03608	-0.345	0.80722	D	1	B;D	0.54601	0.189;0.967	B;P	0.52646	0.079;0.705	D	0.86601	0.1866	10	0.33141	T	0.24	.	15.0983	0.72253	0.0:0.8575:0.1425:0.0	.	721;754	D6RJI3;P35556	.;FBN2_HUMAN	V	754;754;721	ENSP00000262464:G754V;ENSP00000424571:G754V;ENSP00000425596:G721V	ENSP00000262464:G754V	G	-	2	0	FBN2	127730010	0.763000	0.28462	1.000000	0.80357	0.670000	0.39368	1.568000	0.36418	2.569000	0.86673	0.585000	0.79938	GGC		PASS	0.323	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	10	7	10	---	---	---	---
SLC27A6	28965	broad.mit.edu	37	5	128320941	128320941	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:128320941C>A	ENST00000262462.4	+	2	1607	c.597C>A	c.(595-597)acC>acA	p.T199T	SLC27A6_ENST00000395266.1_Silent_p.T199T|SLC27A6_ENST00000506176.1_Silent_p.T199T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	199					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T199T(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AACTGAGCACCTCACCTGATG	0.433																																						uc003kuy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(595-597)ACC>ACA		solute carrier family 27 (fatty acid							101.0	88.0	93.0					5																	128320941		2203	4300	6503	SO:0001819	synonymous_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128320941C>A	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.597C>A	5.37:g.128320941C>A						SLC27A6_uc003kuz.2_Silent_p.T199T	p.T199T	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	3	993	+		all_cancers(142;0.0483)|Prostate(80;0.055)	199					Q6IAM5|Q7Z6E6|Q86YF6	Silent	SNP	ENST00000262462.4	37	c.597C>A	CCDS4145.1																																																																																				PASS	0.433	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		19	23	19	23	---	---	---	---
IL4	3565	broad.mit.edu	37	5	132015524	132015524	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:132015524A>G	ENST00000231449.2	+	3	367	c.302A>G	c.(301-303)aAg>aGg	p.K101R	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.K85R	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	101					B cell costimulation (GO:0031296)|B cell differentiation (GO:0030183)|cellular defense response (GO:0006968)|cellular response to mercury ion (GO:0071288)|chemotaxis (GO:0006935)|cholesterol metabolic process (GO:0008203)|connective tissue growth factor biosynthetic process (GO:0045189)|defense response to protozoan (GO:0042832)|dendritic cell differentiation (GO:0097028)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female pregnancy (GO:0007565)|immune response (GO:0006955)|innate immune response in mucosa (GO:0002227)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of macrophage activation (GO:0043031)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of T-helper 17 cell differentiation (GO:2000320)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of immune response (GO:0050776)|regulation of isotype switching (GO:0045191)|regulation of phosphorylation (GO:0042325)|regulation of proton transport (GO:0010155)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|T-helper 1 cell lineage commitment (GO:0002296)|T-helper 2 cell cytokine production (GO:0035745)|T-helper 2 cell differentiation (GO:0045064)|type 2 immune response (GO:0042092)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-4 receptor binding (GO:0005136)	p.K101R(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CACAGGCACAAGCAGCTGATC	0.622																																						uc003kxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)AAG>AGG		interleukin 4 isoform 1 precursor							52.0	49.0	50.0					5																	132015524		2203	4300	6503	SO:0001583	missense	3565				B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding	g.chr5:132015524A>G	M23442	CCDS4158.1, CCDS4159.1	5q23-q31	2011-07-14			ENSG00000113520	ENSG00000113520		"""Interleukins and interleukin receptors"""	6014	protein-coding gene	gene with protein product	"""B_cell stimulatory factor 1"", ""lymphocyte stimulatory factor 1"", ""B cell growth factor 1"""	147780				3016727	Standard	NM_000589		Approved	BSF1, IL-4, BCGF1, BCGF-1, MGC79402	uc003kxk.2	P05112	OTTHUMG00000059724	ENST00000231449.2:c.302A>G	5.37:g.132015524A>G	ENSP00000231449:p.Lys101Arg					IL4_uc003kxl.1_Missense_Mutation_p.K85R	p.K101R	NM_000589	NP_000580	P05112	IL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)	3	672	+		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	101					Q14630|Q6NZ77	Missense_Mutation	SNP	ENST00000231449.2	37	c.302A>G	CCDS4158.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962625	0.34659	.	.	ENSG00000113520	ENST00000231449;ENST00000350025	T;T	0.44881	0.91;0.91	3.94	-5.45	0.02616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	4.034860	0.00760	N	0.001127	T	0.23094	0.0558	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.09228	-1.0684	10	0.12103	T	0.63	10.7339	2.2006	0.03922	0.262:0.1549:0.4306:0.1526	.	85;101	Q5FC01;P05112	.;IL4_HUMAN	R	101;85	ENSP00000231449:K101R;ENSP00000325190:K85R	ENSP00000231449:K101R	K	+	2	0	IL4	132043423	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.275000	0.02817	-0.790000	0.04492	0.533000	0.62120	AAG		PASS	0.622	IL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132786.1	NM_000589		15	33	15	33	---	---	---	---
LECT2	3950	broad.mit.edu	37	5	135276949	135276949	+	Intron	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:135276949C>T	ENST00000522943.1	-	3	418				FBXL21_ENST00000467490.1_RNA|FBXL21_ENST00000297158.9_RNA|LECT2_ENST00000471827.1_Intron			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.H298H(1)|p.H140H(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGTTATGCACTTCTTTCTAT	0.368																																						uc010jec.1																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(892-894)CAC>CAT		F-box and leucine-rich repeat protein 21							116.0	110.0	112.0					5																	135276949		1845	4087	5932	SO:0001627	intron_variant	26223				rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr5:135276949C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+9962G>A	5.37:g.135276949C>T						FBXL21_uc003lbc.2_Intron	p.H298H	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	915	+			298					B2RA90|O14565|Q52M49	Silent	SNP	ENST00000522943.1	37	c.894C>T																																																																																					PASS	0.368	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302		20	32	20	32	---	---	---	---
VTRNA2-1	100126299	broad.mit.edu	37	5	135416216	135416216	+	lincRNA	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:135416216A>T	ENST00000602301.1	-	0	70					NR_030583.2				vault RNA 2-1																		GCGGGTCTCGAACCCCAGCAC	0.458																																						hsa-mir-886|MI0005527																			0					0															61.0	58.0	59.0					5																	135416216		1568	3582	5150			100126299							g.chr5:135416216A>T			5q31.1	2013-05-03	2011-04-11	2011-04-11	ENSG00000202030	ENSG00000270123		"""Vault RNAs (vtRNAs)"""	37054	non-coding RNA	RNA, vault		614938	"""microRNA 886"", ""vault RNA 2"""	MIR886, MIRN886, VTRNA2		19298825, 19491402, 22926522, 22058117	Standard	NR_030583		Approved	vtRNA2, hvg-5, CBL-3, hsa-mir-886, nc886	uc021ydy.1				5.37:g.135416216A>T																-									RNA	SNP	ENST00000602301.1	37	c.82A>T																																																																																					PASS	0.458	VTRNA2-1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467708.1	NR_030583		6	26	6	26	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139267090	139267090	+	Missense_Mutation	SNP	C	C	G	rs146573130		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:139267090C>G	ENST00000361474.1	-	2	931	c.707G>C	c.(706-708)cGg>cCg	p.R236P	NRG2_ENST00000358522.3_Missense_Mutation_p.R236P|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289422.7_Missense_Mutation_p.R236P|NRG2_ENST00000394770.1_Missense_Mutation_p.R236P|NRG2_ENST00000289409.4_Missense_Mutation_p.R236P|NRG2_ENST00000545385.1_Missense_Mutation_p.R236P|NRG2_ENST00000340391.3_Missense_Mutation_p.R33P|NRG2_ENST00000541337.1_Missense_Mutation_p.R236P	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	236					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R144P(1)|p.R236P(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACTTGGGCCGGGTGGCTGT	0.587																																						uc003lex.1																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(706-708)CGG>CCG		neuregulin 2 isoform 1							60.0	52.0	55.0					5																	139267090		2203	4300	6503	SO:0001583	missense	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139267090C>G		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.707G>C	5.37:g.139267090C>G	ENSP00000354910:p.Arg236Pro					NRG2_uc003lev.1_Missense_Mutation_p.R236P|NRG2_uc003lew.1_Missense_Mutation_p.R236P|NRG2_uc003ley.1_Missense_Mutation_p.R236P	p.R236P	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	932	-			236			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000361474.1	37	c.707G>C	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140401	0.21205	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000340391;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.09	2.09	0.27110	.	0.517672	0.19354	N	0.116328	T	0.08447	0.0210	N	0.04508	-0.205	0.25390	N	0.988537	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.09377	0.004;0.002;0.004;0.004	T	0.38329	-0.9666	10	0.02654	T	1	-2.4026	6.8243	0.23874	0.0:0.6122:0.1983:0.1895	.	236;236;236;236	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	P	236;236;236;236;236;236;33;236;236;144;236	ENSP00000444235:R236P;ENSP00000289422:R236P;ENSP00000354910:R236P;ENSP00000438753:R236P;ENSP00000378251:R236P;ENSP00000342660:R33P;ENSP00000289409:R236P;ENSP00000351323:R236P;ENSP00000367483:R236P	ENSP00000289409:R236P	R	-	2	0	NRG2	139247274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.882000	0.39648	0.549000	0.28973	0.462000	0.41574	CGG		PASS	0.587	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		7	4	7	4	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176274	140176274	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:140176274C>A	ENST00000526136.1	+	1	1725	c.1725C>A	c.(1723-1725)ggC>ggA	p.G575G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.G575G|PCDHA2_ENST00000520672.2_Silent_p.G575G|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	575					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.G575G(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCTGCTGGCGCAGTGAGTG	0.672																																						uc003lhd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1723-1725)GGC>GGA		protocadherin alpha 2 isoform 1 precursor							99.0	94.0	95.0					5																	140176274		2203	4299	6502	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176274C>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1725C>A	5.37:g.140176274C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G575G|PCDHA2_uc011czy.1_Silent_p.G575G	p.G575G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1831	+			575			Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1725C>A	CCDS54914.1																																																																																				PASS	0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		30	55	30	55	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180879	140180879	+	Missense_Mutation	SNP	T	T	A	rs376147788		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:140180879T>A	ENST00000522353.2	+	1	97	c.97T>A	c.(97-99)Tac>Aac	p.Y33N	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.Y33N	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	33	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y33N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCTCCACTACTCCGTCTC	0.657																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(97-99)TAC>AAC		protocadherin alpha 3 isoform 1 precursor							58.0	64.0	62.0					5																	140180879		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180879T>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.97T>A	5.37:g.140180879T>A	ENSP00000429808:p.Tyr33Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.Y33N	p.Y33N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	97	+			33			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.97T>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	15.37	2.813173	0.50527	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.58358	0.34;0.34	4.65	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.35646	U	0.003076	D	0.84151	0.5409	H	0.99487	4.59	0.45378	D	0.998362	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91021	0.4857	10	0.87932	D	0	.	14.4173	0.67158	0.0:0.0:0.0:1.0	.	33;33	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	33	ENSP00000429808:Y33N;ENSP00000434086:Y33N	ENSP00000429808:Y33N	Y	+	1	0	PCDHA3	140161063	1.000000	0.71417	0.998000	0.56505	0.153000	0.21895	7.804000	0.85993	1.874000	0.54306	0.477000	0.44152	TAC		PASS	0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		10	27	10	27	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188675	140188675	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:140188675C>G	ENST00000530339.1	+	1	1903	c.1903C>G	c.(1903-1905)Cgt>Ggt	p.R635G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R635G|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R635G	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	635	Cadherin 6. {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.R635G(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)			CAGCACAACGCGTGCCCTGGA	0.687																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1903-1905)CGT>GGT		protocadherin alpha 4 isoform 1 precursor							96.0	95.0	95.0					5																	140188675		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188675C>G	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.1903C>G	5.37:g.140188675C>G	ENSP00000435300:p.Arg635Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R635G|PCDHA4_uc011daa.1_Missense_Mutation_p.R635G	p.R635G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2004	+			635			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1903C>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793377	0.31685	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52754	0.65;0.65;0.65	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.000000	0.39909	U	0.001236	T	0.65698	0.2716	M	0.65498	2.005	0.31924	N	0.613071	P;D;D	0.52996	0.737;0.957;0.957	P;P;D	0.65140	0.479;0.722;0.932	T	0.74503	-0.3644	10	0.87932	D	0	.	16.6588	0.85236	0.0:1.0:0.0:0.0	.	635;635;635	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	635	ENSP00000423470:R635G;ENSP00000349344:R635G;ENSP00000435300:R635G	ENSP00000349344:R635G	R	+	1	0	PCDHA4	140168859	0.974000	0.33945	0.945000	0.38365	0.115000	0.19883	1.409000	0.34680	2.006000	0.58801	0.484000	0.47621	CGT		PASS	0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		30	46	30	46	---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263823	140263823	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:140263823C>A	ENST00000289272.2	+	1	1970	c.1970C>A	c.(1969-1971)cCc>cAc	p.P657H	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P657H|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	657	Cadherin 6. {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.P657H(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGAGCCCGCGCTGACG	0.692																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1969-1971)CCC>CAC		protocadherin alpha 13 isoform 1 precursor							53.0	53.0	53.0					5																	140263823		2203	4298	6501	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263823C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1970C>A	5.37:g.140263823C>A	ENSP00000289272:p.Pro657His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P657H|PCDHA13_uc003lid.2_Missense_Mutation_p.P657H	p.P657H	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1970	+			657			Cadherin 6.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1970C>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614022	0.46631	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.56941	0.43;0.43	3.97	3.97	0.46021	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.82476	0.5045	H	0.98199	4.17	0.36518	D	0.869973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91949	0.5569	9	0.87932	D	0	.	16.2505	0.82481	0.0:1.0:0.0:0.0	.	657;657;657	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	657	ENSP00000386821:P657H;ENSP00000289272:P657H	ENSP00000289272:P657H	P	+	2	0	PCDHA13	140244007	0.002000	0.14202	0.972000	0.41901	0.370000	0.29829	1.251000	0.32862	2.025000	0.59659	0.655000	0.94253	CCC		PASS	0.692	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		16	32	16	32	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140567751	140567751	+	IGR	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:140567751G>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTCTGAAGATATTTTAAC	0.338																																						uc003liw.1																			0					0						c.(859-861)GAT>AAT		protocadherin beta 9 precursor							22.0	22.0	22.0					5																	140567751		1980	4207	6187	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567751G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567751G>A							p.D287N	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	859	+			287			Extracellular (Potential).|Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.859G>A	CCDS4251.1																																																																																				PASS	0.338	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	12	5	12	---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148427424	148427424	+	Splice_Site	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:148427424C>A	ENST00000515425.1	-	3	381		c.e3+1		SH3TC2_ENST00000512049.1_Splice_Site|SH3TC2_ENST00000394358.2_Splice_Site	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2						cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ttcatgctcacCTTAAACAGC	0.537																																						uc003lpu.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e3+1		SH3 domain and tetratricopeptide repeats 2							108.0	97.0	101.0					5																	148427424		2203	4300	6503	SO:0001630	splice_region_variant	79628						binding	g.chr5:148427424C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.279+1G>T	5.37:g.148427424C>A						SH3TC2_uc003lpp.1_Splice_Site|SH3TC2_uc003lpt.2_Splice_Site|SH3TC2_uc010jgx.2_Splice_Site_p.K93_splice|SH3TC2_uc003lpv.1_Splice_Site|SH3TC2_uc011dbz.1_Splice_Site|SH3TC2_uc003lpw.1_Missense_Mutation_p.V94L	p.K93_splice	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	431	-								B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Splice_Site	SNP	ENST00000515425.1	37	c.279_splice	CCDS4293.1																																																																																				PASS	0.537	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	Intron	19	34	19	34	---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149912589	149912589	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:149912589A>C	ENST00000261797.6	+	4	1593	c.1091A>C	c.(1090-1092)cAc>cCc	p.H364P	NDST1_ENST00000523767.1_Missense_Mutation_p.H364P	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	364	Heparan sulfate N-deacetylase 1.			H -> Q (in Ref. 4; AAH12888). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.H364P(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATTCTTCCACACAGGTAAG	0.572																																						uc003lsk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1090-1092)CAC>CCC		N-deacetylase/N-sulfotransferase (heparan							174.0	141.0	152.0					5																	149912589		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149912589A>C	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1091A>C	5.37:g.149912589A>C	ENSP00000261797:p.His364Pro					NDST1_uc011dcj.1_Missense_Mutation_p.H364P|NDST1_uc003lsl.2_Missense_Mutation_p.H364P	p.H364P	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	1593	+		all_hematologic(541;0.224)	364	H -> Q (in Ref. 4; AAH12888).		Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1091A>C	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751767	0.69533	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.47528	0.84;1.16	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.90483	3.12	0.80722	D	1	B;D;B	0.52996	0.012;0.957;0.046	B;P;B	0.58721	0.047;0.844;0.108	T	0.78661	-0.2117	10	0.87932	D	0	.	15.4616	0.75363	1.0:0.0:0.0:0.0	.	364;364;364	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	P	364	ENSP00000428604:H364P;ENSP00000261797:H364P	ENSP00000261797:H364P	H	+	2	0	NDST1	149892782	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.117000	0.64856	0.533000	0.62120	CAC		PASS	0.572	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		21	37	21	37	---	---	---	---
FAXDC2	10826	broad.mit.edu	37	5	154200021	154200021	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:154200021C>A	ENST00000326080.5	-	9	1280	c.857G>T	c.(856-858)tGc>tTc	p.C286F	FAXDC2_ENST00000517938.1_Missense_Mutation_p.C263F	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	286					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.C286F(1)									CACCCCATAGCACTGGTTGAA	0.562																																						uc003lvs.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)TGC>TTC		hypothetical protein LOC10826							73.0	72.0	73.0					5																	154200021		2054	4216	6270	SO:0001583	missense	10826				fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity	g.chr5:154200021C>A	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.857G>T	5.37:g.154200021C>A	ENSP00000320604:p.Cys286Phe					C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Missense_Mutation_p.A26S|C5orf4_uc011dde.1_Missense_Mutation_p.C263F	p.C286F	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1028	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	286					B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.857G>T	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207692	0.58343	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	T;T	0.08634	3.07;3.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.89785	3.06	0.80722	D	1	P	0.50443	0.935	P	0.54238	0.746	T	0.37753	-0.9692	10	0.11794	T	0.64	.	18.6878	0.91571	0.0:1.0:0.0:0.0	.	286	Q96IV6	CE004_HUMAN	F	286;263	ENSP00000320604:C286F;ENSP00000430286:C263F	ENSP00000320604:C286F	C	-	2	0	C5orf4	154180214	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	5.872000	0.69636	2.406000	0.81754	0.561000	0.74099	TGC		PASS	0.562	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		14	30	14	30	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169461420	169461420	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:169461420C>A	ENST00000256935.8	+	35	3565	c.3485C>A	c.(3484-3486)gCa>gAa	p.A1162E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A223E|DOCK2_ENST00000520908.1_Missense_Mutation_p.A654E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1162	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.A1162V(1)|p.A1162E(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATGTGCTGCAGAGCACCCA	0.592																																						uc003maf.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|pancreas(2)	7						c.(3484-3486)GCA>GAA		dedicator of cytokinesis 2							89.0	85.0	86.0					5																	169461420		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169461420C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3485C>A	5.37:g.169461420C>A	ENSP00000256935:p.Ala1162Glu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A654E	p.A1162E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	3565	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1162			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3485C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.772959	0.00640	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.43294	0.95;0.95;0.95	5.63	2.59	0.31030	.	0.515606	0.20929	N	0.083134	T	0.13586	0.0329	N	0.05031	-0.125	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29397	-1.0013	10	0.02654	T	1	.	1.3626	0.02194	0.2373:0.4452:0.1365:0.1809	.	654;1162	E7ERW7;Q92608	.;DOCK2_HUMAN	E	1162;654;223	ENSP00000256935:A1162E;ENSP00000429283:A654E;ENSP00000438827:A223E	ENSP00000256935:A1162E	A	+	2	0	DOCK2	169393998	0.000000	0.05858	0.159000	0.22649	0.107000	0.19398	0.147000	0.16202	1.363000	0.46019	-0.211000	0.12701	GCA		PASS	0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		19	30	19	30	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177690210	177690210	+	Splice_Site	SNP	G	G	T	rs112924647		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:177690210G>T	ENST00000390654.3	-	9	995	c.638C>A	c.(637-639)gCg>gAg	p.A213E	COL23A1_ENST00000407622.1_Splice_Site_p.A177E	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	213	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A213E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CTCTCTTACCGCTGGGCCTTG	0.657																																						uc003mje.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(637-639)GCG>GAG		collagen, type XXIII, alpha 1							49.0	51.0	50.0					5																	177690210		1948	4133	6081	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177690210G>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.639+1C>A	5.37:g.177690210G>T						COL23A1_uc010jkt.2_Silent_p.R61R	p.A213E	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	9	996	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	213			Extracellular (Potential).|Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.638C>A	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	1.102	-0.660672	0.03454	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.94330	-3.4;-3.34	4.48	-6.4	0.01944	.	1.017330	0.07908	N	0.973844	D	0.87188	0.6115	L	0.41573	1.285	0.21553	N	0.999647	P	0.35208	0.49	B	0.42163	0.378	T	0.76979	-0.2758	10	0.07175	T	0.84	0.2871	5.9678	0.19334	0.2232:0.0:0.3793:0.3976	.	213	Q86Y22	CONA1_HUMAN	E	213;177	ENSP00000375069:A213E;ENSP00000385092:A177E	ENSP00000375069:A213E	A	-	2	0	COL23A1	177622816	0.265000	0.24102	0.825000	0.32803	0.076000	0.17211	0.023000	0.13533	-1.521000	0.01771	-1.786000	0.00637	GCG		PASS	0.657	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	Missense_Mutation	6	25	6	25	---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179305398	179305398	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:179305398G>T	ENST00000356834.3	-	10	1730	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P565T	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	565	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P565T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAGGCAGGGTGCTCGGGC	0.642																																						uc003mlh.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|skin(1)	2						c.(1693-1695)CCT>ACT		TBC1 domain family, member 9B (with GRAM domain)							70.0	51.0	57.0					5																	179305398		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179305398G>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1693C>A	5.37:g.179305398G>T	ENSP00000349291:p.Pro565Thr					TBC1D9B_uc003mli.2_Missense_Mutation_p.P565T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.P565T	p.P565T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1730	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	565			Rab-GAP TBC.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1693C>A	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.391720|4.391720	0.83011|0.83011	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000522472|ENST00000356834;ENST00000355235	.|T;T	.|0.10668	.|2.85;2.85	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Rab-GAP/TBC domain (4);	0.160601|0.160601	0.42172|0.42172	D|D	0.000741|0.000741	T|T	0.39036|0.39036	0.1063|0.1063	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.61697	.|0.99;0.987;0.99	.|P;P;D	.|0.64321	.|0.906;0.848;0.924	T|T	0.43589|0.43589	-0.9382|-0.9382	6|10	.|0.87932	.|D	.|0	-13.6039|-13.6039	18.9357|18.9357	0.92584|0.92584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|565;565;565	.|A1L3A9;Q66K14-2;Q66K14	.|.;.;TBC9B_HUMAN	H|T	118|565	.|ENSP00000349291:P565T;ENSP00000347375:P565T	.|ENSP00000347375:P565T	P|P	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179238004|179238004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	7.631000|7.631000	0.83237|0.83237	2.461000|2.461000	0.83175|0.83175	0.491000|0.491000	0.48974|0.48974	CCC|CCT		PASS	0.642	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	8	4	8	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180338406	180338406	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr5:180338406G>T	ENST00000340184.4	+	3	671	c.465G>T	c.(463-465)caG>caT	p.Q155H	BTNL8_ENST00000511704.1_Missense_Mutation_p.Q39H|BTNL8_ENST00000400707.3_Missense_Mutation_p.Q30H|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.Q155H|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000231229.4_Missense_Mutation_p.Q155H	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	155	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.Q155H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACTCTGTCAGTCCTCGGGCT	0.532																																						uc003mmp.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(463-465)CAG>CAT		butyrophilin-like 8 isoform 2 precursor							194.0	212.0	206.0					5																	180338406		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338406G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.465G>T	5.37:g.180338406G>T	ENSP00000342197:p.Gln155His					BTNL8_uc003mmq.2_Missense_Mutation_p.Q155H|BTNL8_uc011dhg.1_Missense_Mutation_p.Q30H|BTNL8_uc010jll.2_Missense_Mutation_p.Q155H|BTNL8_uc010jlm.2_Missense_Mutation_p.Q39H|BTNL8_uc011dhh.1_5'UTR	p.Q155H	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	699	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	155			Ig-like V-type 2.|Extracellular (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.465G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257777	0.22965	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	3.86	-7.72	0.01250	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	0.999998	B;B;P;P;P	0.41748	0.289;0.121;0.641;0.761;0.641	B;B;B;B;B	0.41723	0.041;0.041;0.365;0.365;0.188	T	0.20306	-1.0279	9	0.41790	T	0.15	.	5.498	0.16813	0.1034:0.5502:0.1252:0.2212	.	30;39;155;155;155	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	H	155;155;30;155;39	ENSP00000231229:Q155H;ENSP00000342197:Q155H;ENSP00000383543:Q30H;ENSP00000424585:Q155H;ENSP00000425207:Q39H	ENSP00000231229:Q155H	Q	+	3	2	BTNL8	180271012	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-1.550000	0.02180	-2.183000	0.00763	0.205000	0.17691	CAG		PASS	0.532	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		54	93	54	93	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032634	4032634	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:4032634C>T	ENST00000337659.6	+	2	983	c.883C>T	c.(883-885)Cca>Tca	p.P295S	PRPF4B_ENST00000538861.1_Missense_Mutation_p.P281S	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	295	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P295S(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATCCAGATCCCCAGTTGATTT	0.333																																						uc003mvv.2																			1	Substitution - Missense(1)		lung(1)	breast(5)	5						c.(883-885)CCA>TCA		serine/threonine-protein kinase PRP4K							74.0	82.0	79.0					6																	4032634		2201	4300	6501	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032634C>T	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.883C>T	6.37:g.4032634C>T	ENSP00000337194:p.Pro295Ser					PRPF4B_uc011dhv.1_RNA	p.P295S	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	974	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	295			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.883C>T	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826837	0.50739	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.64991	-0.11;-0.13	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.48150	0.1484	L	0.54323	1.7	0.53005	D	0.999969	B	0.29162	0.235	B	0.25884	0.064	T	0.44298	-0.9337	10	0.30078	T	0.28	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	295	Q13523	PRP4B_HUMAN	S	295;281	ENSP00000337194:P295S;ENSP00000439331:P281S	ENSP00000337194:P295S	P	+	1	0	PRPF4B	3977633	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	5.300000	0.65721	2.788000	0.95919	0.650000	0.86243	CCA		PASS	0.333	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			51	135	51	135	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6266881	6266881	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:6266881A>T	ENST00000264870.3	-	4	746	c.481T>A	c.(481-483)Tat>Aat	p.Y161N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	161					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.Y161N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACAGCAACATACATGCGGAAT	0.502																																						uc003mwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(481-483)TAT>AAT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						136.0	122.0	127.0					6																	6266881		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266881A>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.481T>A	6.37:g.6266881A>T	ENSP00000264870:p.Tyr161Asn					F13A1_uc011dib.1_Missense_Mutation_p.Y98N	p.Y161N	NM_000129	NP_000120	P00488	F13A_HUMAN			4	604	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	161					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.481T>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460442	0.84317	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.84298	-1.83	5.65	5.65	0.86999	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89441	0.6716	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.87938	0.2715	10	0.27785	T	0.31	.	15.0703	0.72030	1.0:0.0:0.0:0.0	.	98;161	F5H080;P00488	.;F13A_HUMAN	N	161;98	ENSP00000264870:Y161N	ENSP00000264870:Y161N	Y	-	1	0	F13A1	6211880	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	7.380000	0.79704	2.149000	0.67028	0.533000	0.62120	TAT		PASS	0.502	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		18	31	18	31	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7365779	7365779	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:7365779C>A	ENST00000512086.1	-	8	2236	c.2034G>T	c.(2032-2034)aaG>aaT	p.K678N	CAGE1_ENST00000502583.1_Missense_Mutation_p.K705N|CAGE1_ENST00000338150.4_Missense_Mutation_p.K705N|CAGE1_ENST00000379918.4_Missense_Mutation_p.K683N|CAGE1_ENST00000296742.7_Missense_Mutation_p.K542N			Q8TC20	CAGE1_HUMAN	cancer antigen 1	678								p.K705N(2)|p.K542N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTCTGATACTCTTGGCTTCAT	0.368																																						uc003mxi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1624-1626)AAG>AAT		cancer antigen 1							129.0	121.0	124.0					6																	7365779		1869	4095	5964	SO:0001583	missense	285782							g.chr6:7365779C>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2034G>T	6.37:g.7365779C>A	ENSP00000427583:p.Lys678Asn					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.K460N|CAGE1_uc003mxk.1_Missense_Mutation_p.K460N	p.K542N	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			7	2347	-	Ovarian(93;0.0418)		678					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1626G>T		.	.	.	.	.	.	.	.	.	.	C	15.87	2.960460	0.53400	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150	T;T;T;T;T	0.37235	1.24;1.21;1.22;1.22;1.24	5.5	1.53	0.23141	.	0.305075	0.28301	N	0.015841	T	0.28665	0.0710	M	0.61703	1.905	0.09310	N	1	D;B;B	0.67145	0.996;0.129;0.129	P;B;B	0.59948	0.866;0.046;0.046	T	0.09292	-1.0681	10	0.72032	D	0.01	-3.1503	2.4989	0.04629	0.1686:0.5267:0.1644:0.1403	.	705;705;678	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	N	678;683;705;542;678;705	ENSP00000369250:K683N;ENSP00000425493:K705N;ENSP00000296742:K542N;ENSP00000427583:K678N;ENSP00000338107:K705N	ENSP00000296742:K542N	K	-	3	2	CAGE1	7310778	0.008000	0.16893	0.017000	0.16124	0.246000	0.25737	0.154000	0.16343	0.628000	0.30357	0.563000	0.77884	AAG		PASS	0.368	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		4	34	4	34	---	---	---	---
NHLRC1	378884	broad.mit.edu	37	6	18121939	18121939	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:18121939C>G	ENST00000340650.3	-	1	912	c.899G>C	c.(898-900)aGt>aCt	p.S300T		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	300					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S300T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AAGCTGCATACTTGAGCTAAA	0.572																																						uc003ncl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)AGT>ACT		NHL repeat containing 1							60.0	58.0	59.0					6																	18121939		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18121939C>G	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.899G>C	6.37:g.18121939C>G	ENSP00000345464:p.Ser300Thr						p.S300T	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	913	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	300			NHL 4.		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.899G>C	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.256301	0.01457	.	.	ENSG00000187566	ENST00000340650	D	0.90261	-2.64	5.52	-4.63	0.03359	Six-bladed beta-propeller, TolB-like (1);	0.731043	0.13406	N	0.390272	T	0.61324	0.2338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45585	-0.9251	10	0.24483	T	0.36	-0.8267	16.637	0.85061	0.0:0.1303:0.7297:0.14	.	300	Q6VVB1	NHLC1_HUMAN	T	300	ENSP00000345464:S300T	ENSP00000345464:S300T	S	-	2	0	NHLRC1	18229918	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.443000	0.06862	-0.964000	0.03595	-0.176000	0.13171	AGT		PASS	0.572	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			16	50	16	50	---	---	---	---
HIST1H4C	8364	broad.mit.edu	37	6	26104290	26104290	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:26104290G>T	ENST00000377803.2	+	1	187	c.115G>T	c.(115-117)Gct>Tct	p.A39S		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	39					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.A39S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCGCCGTTTGGCTCGGCGCGG	0.542																																						uc003ngi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)GCT>TCT		histone cluster 1, H4c							62.0	62.0	62.0					6																	26104290		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104290G>T	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.115G>T	6.37:g.26104290G>T	ENSP00000367034:p.Ala39Ser						p.A39S	NM_003542	NP_003533	P62805	H4_HUMAN			1	115	+			39					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.115G>T	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	19.51	3.840520	0.71488	.	.	ENSG00000197061	ENST00000377803	T	0.69040	-0.37	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78445	-0.2201	7	0.72032	D	0.01	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	.	.	.	S	39	ENSP00000367034:A39S	ENSP00000367034:A39S	A	+	1	0	HIST1H4C	26212269	1.000000	0.71417	0.860000	0.33809	0.006000	0.05464	9.645000	0.98471	2.538000	0.85594	0.561000	0.74099	GCT		PASS	0.542	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		9	35	9	35	---	---	---	---
HIST1H3E	8353	broad.mit.edu	37	6	26225436	26225436	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:26225436C>A	ENST00000360408.1	+	1	54	c.54C>A	c.(52-54)cgC>cgA	p.R18R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R18R(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AAGCACCGCGCAAACAGCTGG	0.592																																						uc003nhb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)CGC>CGA		histone cluster 1, H3f							54.0	57.0	56.0					6																	26225436		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225436C>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.54C>A	6.37:g.26225436C>A						HIST1H3E_uc003nhc.3_Silent_p.R18R	p.R18R	NM_021018	NP_066298	P68431	H31_HUMAN			2	414	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.54C>A	CCDS4596.1																																																																																				PASS	0.592	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		14	36	14	36	---	---	---	---
ZNF391	346157	broad.mit.edu	37	6	27368915	27368915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:27368915A>T	ENST00000244576.4	+	3	1311	c.766A>T	c.(766-768)Aaa>Taa	p.K256*	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K256*(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TAAATGTGGAAAAGCTTTCAG	0.443																																						uc003njf.1																			2	Substitution - Nonsense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(766-768)AAA>TAA		zinc finger protein 391							67.0	72.0	70.0					6																	27368915		2200	4298	6498	SO:0001587	stop_gained	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368915A>T	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.766A>T	6.37:g.27368915A>T	ENSP00000244576:p.Lys256*						p.K256*	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	1284	+			256			C2H2-type 6.		B4DH77	Nonsense_Mutation	SNP	ENST00000244576.4	37	c.766A>T	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	A	40	8.475389	0.98827	.	.	ENSG00000124613	ENST00000244576	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8815	0.46942	1.0:0.0:0.0:0.0	.	.	.	.	X	256	.	ENSP00000244576:K256X	K	+	1	0	ZNF391	27476894	0.989000	0.36119	0.691000	0.30163	0.971000	0.66376	4.534000	0.60622	1.436000	0.47453	0.455000	0.32223	AAA		PASS	0.443	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		10	25	10	25	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29275320	29275320	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:29275320C>A	ENST00000377160.2	+	1	918	c.854C>A	c.(853-855)cCa>cAa	p.P285Q		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285Q(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACACTCAATCCAGTCATTTAT	0.443																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)CCA>CAA		olfactory receptor, family 5, subfamily U member							128.0	130.0	129.0					6																	29275320		1511	2708	4219	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275320C>A		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.854C>A	6.37:g.29275320C>A	ENSP00000366365:p.Pro285Gln						p.P285Q	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	854	+			285			Helical; Name=7; (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.854C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775536	0.90195	.	.	ENSG00000204695	ENST00000377160	T	0.64260	-0.09	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000744	T	0.75376	0.3841	M	0.69823	2.125	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.77822	-0.2445	10	0.87932	D	0	.	18.1302	0.89599	0.0:1.0:0.0:0.0	.	285	Q9UGF5	O14J1_HUMAN	Q	285	ENSP00000366365:P285Q	ENSP00000366365:P285Q	P	+	2	0	OR14J1	29383299	0.998000	0.40836	0.249000	0.24280	0.343000	0.28985	4.389000	0.59639	2.680000	0.91292	0.650000	0.86243	CCA		PASS	0.443	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			22	68	22	68	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33371295	33371295	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:33371295C>A	ENST00000428849.2	+	5	788	c.338C>A	c.(337-339)cCt>cAt	p.P113H	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	113					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.P113H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTGCTGTTCCTGTCCAGAAG	0.488																																						uc003oef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CCT>CAT		kinesin family member C1							115.0	115.0	115.0					6																	33371295		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371295C>A	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.338C>A	6.37:g.33371295C>A	ENSP00000393963:p.Pro113His					KIFC1_uc011drf.1_Missense_Mutation_p.P113H	p.P113H	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			5	788	+			113					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.338C>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860416	0.71834	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.73897	-0.79	5.25	5.25	0.73442	.	0.245354	0.42964	D	0.000636	T	0.72486	0.3466	L	0.34521	1.04	0.47037	D	0.99929	D;D	0.76494	0.993;0.999	P;P	0.62491	0.628;0.903	T	0.75572	-0.3271	10	0.62326	D	0.03	-1.3453	14.2216	0.65830	0.0:1.0:0.0:0.0	.	113;113	B4E063;Q9BW19	.;KIFC1_HUMAN	H	113;154	ENSP00000393963:P113H	ENSP00000393963:P113H	P	+	2	0	KIFC1	33479273	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	3.311000	0.51919	2.740000	0.93945	0.563000	0.77884	CCT		PASS	0.488	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		5	60	5	60	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38802366	38802366	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:38802366G>T	ENST00000359357.3	+	30	3917	c.3663G>T	c.(3661-3663)atG>atT	p.M1221I	DNAH8_ENST00000449981.2_Missense_Mutation_p.M1438I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M1221I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1221					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M1221I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGACCTATGGTTCCAAATA	0.308																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3661-3663)ATG>ATT		dynein, axonemal, heavy polypeptide 8							119.0	121.0	121.0					6																	38802366		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38802366G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3663G>T	6.37:g.38802366G>T	ENSP00000352312:p.Met1221Ile						p.M1221I	NM_001371	NP_001362					30	4263	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3663G>T		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683654	0.68157	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.87;1.87;1.82	5.68	5.68	0.88126	.	0.196102	0.53938	D	0.000056	T	0.27454	0.0674	M	0.87971	2.92	0.58432	D	0.999997	B	0.28378	0.209	B	0.24701	0.055	T	0.11227	-1.0596	10	0.40728	T	0.16	.	19.8002	0.96504	0.0:0.0:1.0:0.0	.	1221	Q96JB1	DYH8_HUMAN	I	1426;1426;1221;1221	ENSP00000333363:M1426I;ENSP00000352312:M1221I;ENSP00000402294:M1221I	ENSP00000333363:M1426I	M	+	3	0	DNAH8	38910344	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.213000	0.95133	2.674000	0.91012	0.655000	0.94253	ATG		PASS	0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		27	68	27	68	---	---	---	---
KCNK5	8645	broad.mit.edu	37	6	39162006	39162006	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:39162006G>T	ENST00000359534.3	-	4	911	c.573C>A	c.(571-573)atC>atA	p.I191I		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	191					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I191I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGAGGCCCTCGATGTAGTTCC	0.562																																						uc003oon.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(571-573)ATC>ATA		potassium channel, subfamily K, member 5							168.0	134.0	145.0					6																	39162006		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162006G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.573C>A	6.37:g.39162006G>T							p.I191I	NM_003740	NP_003731	O95279	KCNK5_HUMAN			4	937	-			191					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.573C>A	CCDS4841.1																																																																																				PASS	0.562	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		18	50	18	50	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399687	40399687	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:40399687G>C	ENST00000338305.6	-	2	1708	c.1166C>G	c.(1165-1167)aCt>aGt	p.T389S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	389						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T389S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGGGGTGCAGTGCGGCTGGT	0.667																																						uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1165-1167)ACT>AGT		leucine rich repeat and fibronectin type III							54.0	47.0	49.0					6																	40399687		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399687G>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1166C>G	6.37:g.40399687G>C	ENSP00000345985:p.Thr389Ser						p.T389S	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1631	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		389			Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1166C>G	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.168434	0.01660	.	.	ENSG00000156564	ENST00000338305	T	0.57436	0.4	5.45	2.67	0.31697	.	0.607053	0.18841	N	0.129687	T	0.14917	0.0360	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.17098	0.017	T	0.33394	-0.9870	10	0.08179	T	0.78	.	8.8888	0.35420	0.2483:0.0:0.7517:0.0	.	389	Q9ULH4	LRFN2_HUMAN	S	389	ENSP00000345985:T389S	ENSP00000345985:T389S	T	-	2	0	LRFN2	40507665	0.635000	0.27199	0.001000	0.08648	0.680000	0.39746	3.873000	0.56093	0.263000	0.21812	0.655000	0.94253	ACT		PASS	0.667	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		5	22	5	22	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46656980	46656980	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:46656980T>A	ENST00000316081.6	+	1	1115	c.1115T>A	c.(1114-1116)gTg>gAg	p.V372E	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.V372E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	372					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.V372E(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATGCCGGTGGTGACCTACCCT	0.547																																						uc003oyj.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1114-1116)GTG>GAG		tudor domain containing 6							138.0	119.0	126.0					6																	46656980		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656980T>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1115T>A	6.37:g.46656980T>A	ENSP00000346065:p.Val372Glu					TDRD6_uc010jze.2_Missense_Mutation_p.V366E	p.V372E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1115	+			372					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1115T>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910588	0.72983	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09911	2.93;2.93	5.65	5.65	0.86999	Maternal tudor protein (1);	0.204176	0.41194	D	0.000930	T	0.20007	0.0481	M	0.65975	2.015	0.45995	D	0.998808	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.02991	-1.1085	10	0.21014	T	0.42	-14.7389	15.7104	0.77623	0.0:0.0:0.0:1.0	.	372;372	F5H5M3;O60522	.;TDRD6_HUMAN	E	372	ENSP00000443299:V372E;ENSP00000346065:V372E	ENSP00000346065:V372E	V	+	2	0	TDRD6	46764939	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.429000	0.80309	2.371000	0.80710	0.533000	0.62120	GTG		PASS	0.547	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		14	56	14	56	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49816007	49816007	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:49816007C>A	ENST00000335847.4	-	4	302	c.201G>T	c.(199-201)tgG>tgT	p.W67C	CRISP1_ENST00000505118.1_Missense_Mutation_p.W67C|CRISP1_ENST00000329411.5_Missense_Mutation_p.W67C|CRISP1_ENST00000536021.1_Missense_Mutation_p.W67C|CRISP1_ENST00000507853.1_Missense_Mutation_p.W67C|CRISP1_ENST00000355791.2_Missense_Mutation_p.W67C	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	67	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.W67C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CCTCTTCACTCCAACTCTGTA	0.328																																						uc003ozw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)TGG>TGT		acidic epididymal glycoprotein-like 1 isoform 1							85.0	88.0	87.0					6																	49816007		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49816007C>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.201G>T	6.37:g.49816007C>A	ENSP00000338276:p.Trp67Cys					CRISP1_uc003ozx.2_Missense_Mutation_p.W67C	p.W67C	NM_001131	NP_001122	P54107	CRIS1_HUMAN			4	280	-	Lung NSC(77;0.0358)		67					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.201G>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469773	0.43839	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	4.76	4.76	0.60689	CAP domain (3);	0.163605	0.49916	D	0.000132	T	0.55529	0.1926	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.71636	-0.4533	9	.	.	.	.	13.1248	0.59349	0.0:1.0:0.0:0.0	.	67;67	P54107-2;P54107	.;CRIS1_HUMAN	C	67	ENSP00000425020:W67C;ENSP00000338276:W67C;ENSP00000348044:W67C;ENSP00000331317:W67C;ENSP00000427589:W67C;ENSP00000441798:W67C	.	W	-	3	0	CRISP1	49923966	0.997000	0.39634	0.968000	0.41197	0.500000	0.33767	3.035000	0.49759	2.490000	0.84030	0.655000	0.94253	TGG		PASS	0.328	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		8	34	8	34	---	---	---	---
DEFB112	245915	broad.mit.edu	37	6	50011464	50011464	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:50011464C>G	ENST00000322246.4	-	2	165	c.166G>C	c.(166-168)Gcg>Ccg	p.A56P		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	56					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.A56P(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTCCAATCGCTGTACATGAC	0.438																																						uc011dws.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)GCG>CCG		beta-defensin 112 precursor							195.0	155.0	168.0					6																	50011464		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011464C>G	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.166G>C	6.37:g.50011464C>G	ENSP00000319126:p.Ala56Pro						p.A56P	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			2	166	-	Lung NSC(77;0.042)		56					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.166G>C	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	C	6.496	0.459785	0.12342	.	.	ENSG00000180872	ENST00000322246	T	0.11385	2.78	3.43	-6.38	0.01957	.	4.614360	0.00794	N	0.001369	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.40398	0.716	B	0.32533	0.147	T	0.34925	-0.9809	10	0.38643	T	0.18	4.2997	0.2497	0.00203	0.3711:0.2182:0.147:0.2638	.	56	Q30KQ8	DB112_HUMAN	P	56	ENSP00000319126:A56P	ENSP00000319126:A56P	A	-	1	0	DEFB112	50119423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.624000	0.05540	-0.935000	0.03728	-1.410000	0.01125	GCG		PASS	0.438	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		15	53	15	53	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51907739	51907740	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:51907739_51907740GG>CT	ENST00000371117.3	-	27	3289_3290	c.3014_3015CC>AG	c.(3013-3015)gCC>gAG	p.A1005E	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1005E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1005	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1005E(2)|p.A1005D(2)|p.A1005A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGCACTGATGGCAAGACCAGA	0.47																																						uc003pah.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3013-3015)GCC>GCG|c.(3013-3015)GCC>GAC		fibrocystin isoform 1																																				SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51907739G>C|g.chr6:51907740G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3014_3015delinsCT	6.37:g.51907739_51907740delinsCT	ENSP00000360158:p.Ala1005Glu					PKHD1_uc003pai.2_Silent_p.A1005A|PKHD1_uc003pai.2_Missense_Mutation_p.A1005D	p.A1005A|p.A1005D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3291|3290	-	Lung NSC(77;0.0605)		1005			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent|Missense_Mutation	SNP	ENST00000371117.3	37	c.3015C>G|c.3014C>A	CCDS4935.1																																																																																				PASS	0.470	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		34	48|49	34	48	---	---	---	---
GSTA1	2938	broad.mit.edu	37	6	52661110	52661110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:52661110C>A	ENST00000334575.5	-	4	297	c.142G>T	c.(142-144)Gga>Tga	p.G48*	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	48	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.G48*(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	ATCAAATATCCATCTTTAGAA	0.403																																						uc003paz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(142-144)GGA>TGA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						119.0	116.0	117.0					6																	52661110		2203	4300	6503	SO:0001587	stop_gained	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52661110C>A		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.142G>T	6.37:g.52661110C>A	ENSP00000335620:p.Gly48*						p.G48*	NM_145740	NP_665683	P08263	GSTA1_HUMAN			4	254	-	Lung NSC(77;0.118)		48			GST N-terminal.		Q14750|Q5GHF8|Q5SZC1	Nonsense_Mutation	SNP	ENST00000334575.5	37	c.142G>T	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	c	19.36	3.812756	0.70912	.	.	ENSG00000243955	ENST00000334575	.	.	.	2.73	1.84	0.25277	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.8627	0.35267	0.0:0.8797:0.0:0.1203	.	.	.	.	X	48	.	ENSP00000335620:G48X	G	-	1	0	GSTA1	52769069	1.000000	0.71417	0.013000	0.15412	0.035000	0.12851	4.105000	0.57797	0.131000	0.18576	0.195000	0.17529	GGA		PASS	0.403	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			5	119	5	119	---	---	---	---
DST	667	broad.mit.edu	37	6	56394534	56394534	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:56394534T>C	ENST00000244364.6	-	47	9645	c.9438A>G	c.(9436-9438)ttA>ttG	p.L3146L	DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Silent_p.L5738L|DST_ENST00000446842.2_Silent_p.L5234L|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Silent_p.L3472L|DST_ENST00000370769.4_Silent_p.L5560L	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5558					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L5560L(1)|p.L3146L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGCCTGGTGTAAATGTTTAT	0.338																																						uc003pdf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10948-10950)TTA>TTG		dystonin isoform 2							67.0	62.0	63.0					6																	56394534		1837	4085	5922	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56394534T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9438A>G	6.37:g.56394534T>C						DST_uc003pcz.3_Silent_p.L3472L|DST_uc011dxj.1_Silent_p.L3501L|DST_uc011dxk.1_Silent_p.L3512L|DST_uc003pcy.3_Silent_p.L3146L	p.L3650L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		60	10978	-	Lung NSC(77;0.103)		5558			Spectrin 9.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000244364.6	37	c.10950A>G	CCDS47443.1																																																																																				PASS	0.338	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4	NM_001723		9	21	9	21	---	---	---	---
EEF1A1	1915	broad.mit.edu	37	6	74228328	74228328	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:74228328C>A	ENST00000316292.9	-	5	1769	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	EEF1A1_ENST00000331523.2_Missense_Mutation_p.G260C|EEF1A1_ENST00000309268.6_Missense_Mutation_p.G260C|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	260					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.G260C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GGAACAGTACCAATACCTAAA	0.413											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GGT>TGT		eukaryotic translation elongation factor 1 alpha							106.0	107.0	106.0					6																	74228328		2163	4285	6448	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228328C>A	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.778G>T	6.37:g.74228328C>A	ENSP00000339063:p.Gly260Cys		OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Missense_Mutation_p.G250C|EEF1A1_uc003phf.2_Missense_Mutation_p.G260C|EEF1A1_uc003phg.2_Missense_Mutation_p.G260C|EEF1A1_uc003phh.2_Missense_Mutation_p.G106C|EEF1A1_uc003phj.2_Missense_Mutation_p.G260C|EEF1A1_uc003phk.2_Missense_Mutation_p.G260C|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	p.G260C	NM_001402	NP_001393	P68104	EF1A1_HUMAN			5	815	-			260					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.778G>T	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863873	0.71949	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	D;D;D	0.87412	-2.25;-2.25;-2.25	4.71	4.71	0.59529	Translation elongation factor EFTu/EF1A, domain 2 (2);Translation elongation/initiation factor/Ribosomal, beta-barrel (2);	0.129753	0.51477	U	0.000092	D	0.96886	0.8983	H	0.99870	4.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75484	0.98;0.986;0.98;0.967	D	0.99421	1.0933	10	0.87932	D	0	.	18.0919	0.89478	0.0:1.0:0.0:0.0	.	260;260;260;260	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	C	260;260;260;260;239	ENSP00000339063:G260C;ENSP00000339053:G260C;ENSP00000330054:G260C	ENSP00000339053:G260C	G	-	1	0	EEF1A1	74285049	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.442000	0.80503	2.323000	0.78572	0.556000	0.70494	GGT		PASS	0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		5	38	5	38	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75825592	75825592	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:75825592A>T	ENST00000322507.8	-	49	7914	c.7605T>A	c.(7603-7605)gcT>gcA	p.A2535A	COL12A1_ENST00000345356.6_Silent_p.A1371A|COL12A1_ENST00000416123.2_Silent_p.A2535A|COL12A1_ENST00000483888.2_Silent_p.A2535A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2535	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.A2535A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTGTACAGAAGCAAAATTCT	0.363																																						uc003phs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7603-7605)GCT>GCA		collagen, type XII, alpha 1 long isoform							99.0	97.0	97.0					6																	75825592		1899	4117	6016	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75825592A>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7605T>A	6.37:g.75825592A>T						COL12A1_uc003pht.2_Silent_p.A1371A	p.A2535A	NM_004370	NP_004361	Q99715	COCA1_HUMAN			49	7771	-			2535			TSP N-terminal.|Nonhelical region (NC3).		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.7605T>A	CCDS43482.1																																																																																				PASS	0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		16	80	16	80	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87726039	87726039	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:87726039G>T	ENST00000305344.5	+	2	1690	c.987G>T	c.(985-987)ctG>ctT	p.L329L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	329					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L329L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCGACTTTCTGACGTGGCTCG	0.443																																						uc003pli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(985-987)CTG>CTT		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						143.0	151.0	148.0					6																	87726039		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726039G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.987G>T	6.37:g.87726039G>T							p.L329L	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1690	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	329			Helical; Name=7; (By similarity).		E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.987G>T	CCDS5006.1																																																																																				PASS	0.443	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		23	91	23	91	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853983	88853983	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:88853983C>A	ENST00000537554.1	-	2	4573	c.1011G>T	c.(1009-1011)atG>atT	p.M337I	CNR1_ENST00000535130.1_Missense_Mutation_p.M337I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.M304I|CNR1_ENST00000549716.1_Missense_Mutation_p.M276I|CNR1_ENST00000549890.1_Missense_Mutation_p.M337I|CNR1_ENST00000369501.2_Missense_Mutation_p.M337I|CNR1_ENST00000369499.2_Missense_Mutation_p.M337I|CNR1_ENST00000428600.2_Missense_Mutation_p.M337I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	337					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.M337I(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACCTAATGTCCATGCGGGCTT	0.557																																						uc011dzq.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(2)	2						c.(1009-1011)ATG>ATT		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						165.0	173.0	170.0					6																	88853983		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88853983C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1011G>T	6.37:g.88853983C>A	ENSP00000441046:p.Met337Ile					CNR1_uc010kbz.2_Missense_Mutation_p.M337I|CNR1_uc011dzr.1_Missense_Mutation_p.M337I|CNR1_uc011dzs.1_Missense_Mutation_p.M337I|CNR1_uc003pmq.3_Missense_Mutation_p.M337I|CNR1_uc011dzt.1_Missense_Mutation_p.M337I|CNR1_uc010kca.2_Missense_Mutation_p.M304I	p.M337I	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4574	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	337			Cytoplasmic (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.1011G>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532166	0.64972	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	N	0.19112	0.55	0.80722	D	1	D;B	0.53745	0.962;0.437	D;B	0.66716	0.946;0.289	T	0.73697	-0.3901	10	0.56958	D	0.05	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	304;337	P21554-3;P21554	.;CNR1_HUMAN	I	337;337;337;337;337;304;337;276	ENSP00000358513:M337I;ENSP00000442689:M337I;ENSP00000441046:M337I;ENSP00000358511:M337I;ENSP00000446819:M337I;ENSP00000420188:M304I;ENSP00000412192:M337I;ENSP00000449549:M276I	ENSP00000358511:M337I	M	-	3	0	CNR1	88910702	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.818000	0.86416	2.880000	0.98712	0.655000	0.94253	ATG		PASS	0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			23	64	23	64	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93969136	93969136	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:93969136A>T	ENST00000369303.4	-	10	2044	c.1860T>A	c.(1858-1860)gcT>gcA	p.A620A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	620					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.A620A(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTGATGGACAGCTCTATTTG	0.433																																						uc003poe.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1858-1860)GCT>GCA		ephrin receptor EphA7 precursor							219.0	196.0	204.0					6																	93969136		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93969136A>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1860T>A	6.37:g.93969136A>T						EPHA7_uc003pof.2_Silent_p.A615A|EPHA7_uc011eac.1_Silent_p.A616A	p.A620A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	10	2101	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	620			Cytoplasmic (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1860T>A	CCDS5031.1																																																																																				PASS	0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			8	60	8	60	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107391211	107391211	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:107391211T>A	ENST00000369042.1	-	4	1374	c.1184A>T	c.(1183-1185)cAg>cTg	p.Q395L	BEND3_ENST00000429433.2_Missense_Mutation_p.Q395L			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	395	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.Q395L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTGAGGTCCTGCGTGTCCAC	0.632																																						uc003prs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1183-1185)CAG>CTG		BEN domain containing 3							72.0	73.0	72.0					6																	107391211		2203	4300	6503	SO:0001583	missense	57673							g.chr6:107391211T>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1184A>T	6.37:g.107391211T>A	ENSP00000358038:p.Gln395Leu						p.Q395L	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1834	-			395			BEN 2.		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1184A>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774393	0.49786	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	BEN domain (1);	0.074711	0.56097	D	0.000028	T	0.33585	0.0868	L	0.34521	1.04	0.49213	D	0.99976	P	0.47409	0.895	P	0.44518	0.452	T	0.10132	-1.0643	9	0.31617	T	0.26	1.189	15.4363	0.75149	0.0:0.0:0.0:1.0	.	395	Q5T5X7	BEND3_HUMAN	L	395	.	ENSP00000358038:Q395L	Q	-	2	0	BEND3	107497904	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.425000	0.66470	2.238000	0.73509	0.459000	0.35465	CAG		PASS	0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		12	57	12	57	---	---	---	---
FRK	2444	broad.mit.edu	37	6	116288787	116288787	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:116288787A>T	ENST00000606080.1	-	4	1172	c.726T>A	c.(724-726)tcT>tcA	p.S242S	FRK_ENST00000538210.1_Silent_p.S100S	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	242	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.S242S(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)	CAAACTGACCAGATCCCAATC	0.458																																						uc003pwi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)	6						c.(724-726)TCT>TCA		fyn-related kinase							177.0	165.0	169.0					6																	116288787		2203	4300	6503	SO:0001819	synonymous_variant	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116288787A>T	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.726T>A	6.37:g.116288787A>T							p.S242S	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)	4	1173	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	242			ATP (By similarity).|Protein kinase.		B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	c.726T>A	CCDS5103.1																																																																																				PASS	0.458	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		15	84	15	84	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117714485	117714485	+	Splice_Site	SNP	C	C	G	rs150002762	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:117714485C>G	ENST00000368508.3	-	11	1363		c.e11-1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGACACATACCTAAAAAAATA	0.368			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Unknown(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.e11-1		proto-oncogene c-ros-1 protein precursor							145.0	158.0	154.0					6																	117714485		2203	4300	6503	SO:0001630	splice_region_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117714485C>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1165-1G>C	6.37:g.117714485C>G						ROS1_uc011ebi.1_Splice_Site|GOPC_uc003pxq.1_Intron	p.V389_splice	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	11	1364	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)						Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	c.1165_splice	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653721	0.67472	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4423	0.90671	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117821178	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.824000	0.62701	2.772000	0.95346	0.585000	0.79938	.		PASS	0.368	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron	5	139	5	139	---	---	---	---
MAN1A1	4121	broad.mit.edu	37	6	119514988	119514988	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:119514988T>A	ENST00000368468.3	-	9	1721	c.1280A>T	c.(1279-1281)gAc>gTc	p.D427V		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	427					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.D427V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATCTGTCTTGTCAGACATTAA	0.383																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1279-1281)GAC>GTC		mannosidase, alpha, class 1A, member 1							120.0	112.0	115.0					6																	119514988		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119514988T>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1280A>T	6.37:g.119514988T>A	ENSP00000357453:p.Asp427Val						p.D427V	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	9	1722	-		all_epithelial(87;0.173)	427			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1280A>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503898	0.44558	.	.	ENSG00000111885	ENST00000368468	T	0.72394	-0.65	5.62	1.8	0.24995	.	0.100742	0.64402	D	0.000003	T	0.76666	0.4019	M	0.90369	3.11	0.80722	D	1	P	0.46064	0.872	P	0.60236	0.871	T	0.76743	-0.2847	10	0.87932	D	0	-16.2839	6.847	0.23994	0.0:0.1343:0.127:0.7387	.	427	P33908	MA1A1_HUMAN	V	427	ENSP00000357453:D427V	ENSP00000357453:D427V	D	-	2	0	MAN1A1	119556687	1.000000	0.71417	0.996000	0.52242	0.174000	0.22865	5.171000	0.64996	0.066000	0.16515	-0.274000	0.10170	GAC		PASS	0.383	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		8	39	8	39	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121577251	121577251	+	Silent	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:121577251A>G	ENST00000398212.2	-	16	1963	c.1914T>C	c.(1912-1914)tcT>tcC	p.S638S	TBC1D32_ENST00000275159.6_Silent_p.S638S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	638					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.S638S(1)									CCTTTGCTATAGATTCATGCA	0.338																																						uc003pyo.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1912-1914)TCT>TCC		hypothetical protein LOC221322							89.0	81.0	83.0					6																	121577251		1818	4084	5902	SO:0001819	synonymous_variant	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121577251A>G	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1914T>C	6.37:g.121577251A>G						C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.S157S	p.S638S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	16	1982	-			638					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.1914T>C	CCDS43501.1																																																																																				PASS	0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		8	20	8	20	---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768886	121768886	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:121768886G>C	ENST00000282561.3	+	2	1050	c.893G>C	c.(892-894)tGc>tCc	p.C298S		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	298					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.C298S(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AATTCTTCTTGCCGCAATTAC	0.493																																						uc003pyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(892-894)TGC>TCC		connexin 43	Carvedilol(DB01136)						73.0	74.0	73.0					6																	121768886		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768886G>C	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.893G>C	6.37:g.121768886G>C	ENSP00000282561:p.Cys298Ser					GJA1_uc011ebo.1_Missense_Mutation_p.C199S|GJA1_uc011ebp.1_Missense_Mutation_p.C86S	p.C298S	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1143	+			298			Cytoplasmic (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.893G>C	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.796088	0.31777	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.80824	-1.42	5.08	5.08	0.68730	Gap junction alpha-1 protein (Cx43), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.56595	-0.7953	10	0.19590	T	0.45	.	18.6704	0.91508	0.0:0.0:1.0:0.0	.	298	P17302	CXA1_HUMAN	S	282;298	ENSP00000282561:C298S	ENSP00000282561:C298S	C	+	2	0	GJA1	121810585	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.208000	0.95075	2.638000	0.89438	0.585000	0.79938	TGC		PASS	0.493	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		28	68	28	68	---	---	---	---
FABP7	2173	broad.mit.edu	37	6	123101603	123101603	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:123101603T>C	ENST00000368444.3	+	2	561	c.241T>C	c.(241-243)Tgt>Cgt	p.C81R	FABP7_ENST00000356535.4_Missense_Mutation_p.C81R	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	81					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.C81R(1)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	TGATAGAAACTGTAAGGTGAG	0.413																																						uc003pzf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)TGT>CGT		fatty acid binding protein 7, brain	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						53.0	51.0	51.0					6																	123101603		2203	4300	6503	SO:0001583	missense	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123101603T>C	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.241T>C	6.37:g.123101603T>C	ENSP00000357429:p.Cys81Arg					FABP7_uc003pzd.2_Missense_Mutation_p.C81R|FABP7_uc003pze.1_Missense_Mutation_p.C81R	p.C81R	NM_001446	NP_001437	O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	2	535	+			81					B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	c.241T>C	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625141	0.66901	.	.	ENSG00000164434	ENST00000368444;ENST00000356535	T;T	0.08193	3.12;3.12	5.54	5.54	0.83059	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.204155	0.52532	D	0.000064	T	0.15782	0.0380	L	0.49640	1.575	0.80722	D	1	P;P;D	0.69078	0.915;0.953;0.997	P;P;D	0.70016	0.883;0.808;0.967	T	0.00611	-1.1645	10	0.72032	D	0.01	.	15.9658	0.79970	0.0:0.0:0.0:1.0	.	81;87;81	O15540;Q59HE4;Q9H047	FABP7_HUMAN;.;.	R	81	ENSP00000357429:C81R;ENSP00000348931:C81R	ENSP00000348931:C81R	C	+	1	0	FABP7	123143302	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.964000	0.63701	2.221000	0.72209	0.460000	0.39030	TGT		PASS	0.413	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446		10	37	10	37	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123376952	123376952	+	Splice_Site	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:123376952T>G	ENST00000275162.5	+	5	2012	c.677T>G	c.(676-678)aTa>aGa	p.I226R	CLVS2_ENST00000368438.1_Splice_Site_p.I80R	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	226	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.I226R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CATTTATAGATATTTTTGCAT	0.433																																						uc003pzi.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(676-678)ATA>AGA		retinaldehyde binding protein 1-like 2							126.0	116.0	120.0					6																	123376952		2203	4300	6503	SO:0001630	splice_region_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123376952T>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.676-1T>G	6.37:g.123376952T>G							p.I226R	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			5	1546	+			226			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.677T>G	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454337	0.84209	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.88741	-2.42;-2.42	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95575	0.8641	10	0.87932	D	0	-20.9012	15.8714	0.79122	0.0:0.0:0.0:1.0	.	226	Q5SYC1	CLVS2_HUMAN	R	226;80	ENSP00000275162:I226R;ENSP00000357423:I80R	ENSP00000275162:I226R	I	+	2	0	CLVS2	123418651	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.698000	0.84413	2.144000	0.66660	0.533000	0.62120	ATA		PASS	0.433	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852	Missense_Mutation	14	31	14	31	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134372	128134372	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:128134372C>A	ENST00000368248.2	-	4	1562	c.1414G>T	c.(1414-1416)Gtg>Ttg	p.V472L	THEMIS_ENST00000368250.1_Missense_Mutation_p.V393L|THEMIS_ENST00000537166.1_Missense_Mutation_p.V437L|THEMIS_ENST00000543064.1_Missense_Mutation_p.V472L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	472	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V472L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCAGCCAACACGTCCTCTTCA	0.483																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1414-1416)GTG>TTG		thymocyte selection pathway associated isoform							75.0	74.0	74.0					6																	128134372		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134372C>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1414G>T	6.37:g.128134372C>A	ENSP00000357231:p.Val472Leu					THEMIS_uc010kfa.2_Missense_Mutation_p.V375L|THEMIS_uc011ebt.1_Missense_Mutation_p.V472L|THEMIS_uc010kfb.2_Missense_Mutation_p.V437L	p.V472L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1733	-			472			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1414G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	4.584	0.108587	0.08780	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.69	2.02	0.26589	.	0.368838	0.27802	N	0.017786	T	0.03564	0.0102	L	0.40543	1.245	0.22648	N	0.998894	B;B	0.30281	0.275;0.088	B;B	0.30855	0.121;0.091	T	0.40553	-0.9557	10	0.27082	T	0.32	-4.1061	8.9259	0.35641	0.0:0.309:0.0:0.691	.	472;472	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	393;472;472;437	ENSP00000357233:V393L;ENSP00000439594:V472L;ENSP00000357231:V472L;ENSP00000439863:V437L	ENSP00000357231:V472L	V	-	1	0	THEMIS	128176065	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	0.540000	0.23191	0.416000	0.25844	-0.471000	0.05019	GTG		PASS	0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		5	22	5	22	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128150997	128150997	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:128150997T>A	ENST00000368248.2	-	3	481	c.333A>T	c.(331-333)agA>agT	p.R111S	THEMIS_ENST00000368250.1_Missense_Mutation_p.R32S|THEMIS_ENST00000537166.1_Missense_Mutation_p.R76S|THEMIS_ENST00000543064.1_Missense_Mutation_p.R111S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	111	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R111S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GATGCCCTAGTCTACTTGGTC	0.383																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(331-333)AGA>AGT		thymocyte selection pathway associated isoform							79.0	79.0	79.0					6																	128150997		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150997T>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.333A>T	6.37:g.128150997T>A	ENSP00000357231:p.Arg111Ser					THEMIS_uc010kfa.2_Missense_Mutation_p.R14S|THEMIS_uc011ebt.1_Missense_Mutation_p.R111S|THEMIS_uc010kfb.2_Missense_Mutation_p.R76S	p.R111S	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			4	652	-			111			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.333A>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766704	0.69878	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	6.14	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	L	0.49640	1.575	0.36812	D	0.88594	D;D	0.65815	0.995;0.982	D;P	0.63033	0.91;0.824	T	0.02345	-1.1173	10	0.54805	T	0.06	-19.3293	5.5523	0.17097	0.1283:0.196:0.0:0.6757	.	111;111	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	32;111;111;76	ENSP00000357233:R32S;ENSP00000439594:R111S;ENSP00000357231:R111S;ENSP00000439863:R76S	ENSP00000357231:R111S	R	-	3	2	THEMIS	128192690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.402000	0.20965	1.162000	0.42619	0.529000	0.55759	AGA		PASS	0.383	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		12	34	12	34	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129759879	129759879	+	Silent	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:129759879T>G	ENST00000421865.2	+	42	6106	c.6057T>G	c.(6055-6057)acT>acG	p.T2019T	RNU6-861P_ENST00000516745.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2019	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.T2019T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAATGACACTTTGGGAAAGT	0.368																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(6055-6057)ACT>ACG		laminin alpha 2 subunit isoform a precursor							111.0	112.0	112.0					6																	129759879		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129759879T>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6057T>G	6.37:g.129759879T>G						LAMA2_uc003qbo.2_Silent_p.T2019T	p.T2019T	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	42	6162	+			2019			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.6057T>G	CCDS5138.1																																																																																				PASS	0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			10	57	10	57	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762800	130762800	+	Silent	SNP	A	A	G	rs141922342	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:130762800A>G	ENST00000296978.3	+	3	2104	c.1233A>G	c.(1231-1233)gcA>gcG	p.A411A	TMEM200A_ENST00000392429.1_Silent_p.A411A|TMEM200A_ENST00000545622.1_Silent_p.A411A	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	411						integral component of membrane (GO:0016021)		p.A411A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTGTTCAGGCAGAACAACGGA	0.478																																						uc003qca.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1231-1233)GCA>GCG		transmembrane protein 200A		A		11,4395	17.9+/-39.9	0,11,2192	99.0	90.0	93.0		1233	-1.6	1.0	6	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous	TMEM200A	NM_052913.2		0,11,6492	GG,GA,AA		0.0,0.2497,0.0846		411/492	130762800	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762800A>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1233A>G	6.37:g.130762800A>G						TMEM200A_uc010kfh.2_Silent_p.A411A|TMEM200A_uc010kfi.2_Silent_p.A411A|TMEM200A_uc003qcb.2_Silent_p.A411A	p.A411A	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	2104	+			411			Cytoplasmic (Potential).		Q96PX5	Silent	SNP	ENST00000296978.3	37	c.1233A>G	CCDS5140.1																																																																																				PASS	0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		18	43	18	43	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139609763	139609763	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:139609763C>A	ENST00000358430.3	-	2	506	c.274G>T	c.(274-276)Gca>Tca	p.A92S	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	92						cytoplasm (GO:0005737)		p.A92S(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGTGATTCTGCATTCTCAGGC	0.547																																						uc011eds.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(274-276)GCA>TCA		taxilin beta							113.0	108.0	110.0					6																	139609763		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139609763C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.274G>T	6.37:g.139609763C>A	ENSP00000351206:p.Ala92Ser						p.A92S	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	439	-			92					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.274G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	5.090	0.202223	0.09652	.	.	ENSG00000164440	ENST00000358430	T	0.13901	2.55	6.07	-0.178	0.13303	.	0.734434	0.13288	N	0.399195	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.47636	-0.9102	9	.	.	.	-0.4194	5.8994	0.18957	0.0:0.4993:0.1237:0.377	.	92	Q8N3L3	TXLNB_HUMAN	S	92	ENSP00000351206:A92S	.	A	-	1	0	TXLNB	139651456	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.160000	0.16462	-0.110000	0.12022	0.650000	0.86243	GCA		PASS	0.547	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		23	41	23	41	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264293	146264293	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:146264293A>T	ENST00000367505.2	-	9	2488	c.2224T>A	c.(2224-2226)Tct>Act	p.S742T	SHPRH_ENST00000438092.2_Missense_Mutation_p.S742T|SHPRH_ENST00000275233.7_Missense_Mutation_p.S742T|SHPRH_ENST00000367503.3_Missense_Mutation_p.S742T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	742	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S742T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACTCGAAGAGATGACGACCTC	0.438																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2224-2226)TCT>ACT		SNF2 histone linker PHD RING helicase isoform a							79.0	78.0	78.0					6																	146264293		1965	4141	6106	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264293A>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2224T>A	6.37:g.146264293A>T	ENSP00000356475:p.Ser742Thr					SHPRH_uc003qld.2_Missense_Mutation_p.S742T|SHPRH_uc003qle.2_Missense_Mutation_p.S742T|SHPRH_uc003qlg.1_Missense_Mutation_p.S298T|SHPRH_uc003qlj.1_Missense_Mutation_p.S631T	p.S742T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2623	-		Ovarian(120;0.0365)	742			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2224T>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054172	0.75960	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.51	5.51	0.81932	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.92397	0.7587	L	0.45352	1.415	0.80722	D	1	P;D;D;D	0.89917	0.946;0.999;0.999;1.0	P;D;D;D	0.91635	0.636;0.976;0.958;0.999	D	0.90948	0.4803	10	0.25751	T	0.34	-20.2427	15.909	0.79456	1.0:0.0:0.0:0.0	.	631;742;742;631	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	T	742;742;742;742;631	ENSP00000356475:S742T;ENSP00000356473:S742T;ENSP00000412797:S742T;ENSP00000275233:S742T	ENSP00000275233:S742T	S	-	1	0	SHPRH	146305986	1.000000	0.71417	0.917000	0.36280	0.960000	0.62799	7.246000	0.78247	2.220000	0.72140	0.477000	0.44152	TCT		PASS	0.438	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		13	42	13	42	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152644691	152644691	+	Missense_Mutation	SNP	T	T	C	rs567339732		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:152644691T>C	ENST00000367255.5	-	82	16440	c.15839A>G	c.(15838-15840)cAg>cGg	p.Q5280R	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q5209R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q5280R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4973R|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q5209R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5280					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q5280R(2)|p.Q5209R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCTCCATCCTGGAGCATGCT	0.562										HNSCC(10;0.0054)			T|||	1	0.000199681	0.0	0.0	5008	,	,		16365	0.001		0.0	False		,,,				2504	0.0					uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(15838-15840)CAG>CGG		spectrin repeat containing, nuclear envelope 1							70.0	70.0	70.0					6																	152644691		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152644691T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15839A>G	6.37:g.152644691T>C	ENSP00000356224:p.Gln5280Arg	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.Q5209R|SYNE1_uc003qou.3_Missense_Mutation_p.Q5280R|SYNE1_uc010kiz.2_Missense_Mutation_p.Q1035R	p.Q5280R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	82	16441	-		Ovarian(120;0.0955)	5280			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15839A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	5.527	0.282212	0.10458	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.35	1.71	0.24356	.	0.568310	0.15974	N	0.235636	T	0.07007	0.0178	L	0.28400	0.85	0.18873	N	0.999986	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.0;0.0;0.001	T	0.39035	-0.9633	10	0.13470	T	0.59	.	4.9605	0.14063	0.0:0.2908:0.1687:0.5405	.	5280;5280;5280;5209	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	5280;5209;5280;5209;4973	ENSP00000356224:Q5280R;ENSP00000396024:Q5209R;ENSP00000265368:Q5280R;ENSP00000390975:Q5209R;ENSP00000341887:Q4973R	ENSP00000265368:Q5280R	Q	-	2	0	SYNE1	152686384	0.995000	0.38212	0.470000	0.27216	0.214000	0.24535	0.739000	0.26173	0.338000	0.23692	0.482000	0.46254	CAG		PASS	0.562	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	15	4	15	---	---	---	---
SLC22A2	6582	broad.mit.edu	37	6	160671686	160671686	+	Silent	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:160671686T>A	ENST00000366953.3	-	3	825	c.567A>T	c.(565-567)gcA>gcT	p.A189A	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.A168A	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	189					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.A189A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GAACTCCAGCTGCAGCATTTA	0.433																																						uc003qtf.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(565-567)GCA>GCT		solute carrier family 22 member 2							95.0	91.0	92.0					6																	160671686		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160671686T>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.567A>T	6.37:g.160671686T>A						SLC22A2_uc003qte.1_Silent_p.A189A|SLC22A2_uc003qth.1_Silent_p.A189A	p.A189A	NM_003058	NP_003049	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	737	-		Breast(66;0.000776)|Ovarian(120;0.0303)	189			Helical; (Potential).		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.567A>T	CCDS5276.1																																																																																				PASS	0.433	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		26	33	26	33	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166952269	166952269	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:166952269C>G	ENST00000265678.4	-	2	326	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E43Q|RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.E60Q	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	35					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.E35K(1)|p.E35Q(1)|p.E43K(1)|p.E43Q(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACGACGCCTTCTTCCTGCAAG	0.557																																						uc003qvb.1																			4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(103-105)GAA>CAA		ribosomal protein S6 kinase, 90kDa, polypeptide							119.0	104.0	109.0					6																	166952269		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166952269C>G	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.103G>C	6.37:g.166952269C>G	ENSP00000265678:p.Glu35Gln					RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E43Q|RPS6KA2_uc003qvd.1_Missense_Mutation_p.E60Q	p.E35Q	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	2	322	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	35					B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.103G>C	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759722	0.49468	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000507371;ENST00000506565	T;T;T;T;T	0.70282	-0.46;-0.47;-0.47;-0.33;-0.35	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.115966	0.64402	D	0.000019	T	0.56396	0.1982	L	0.46157	1.445	0.80722	D	1	B;P;P	0.41313	0.137;0.745;0.629	B;B;B	0.38803	0.064;0.282;0.146	T	0.65380	-0.6182	10	0.56958	D	0.05	.	16.9986	0.86375	0.0:1.0:0.0:0.0	.	60;43;35	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Q	35;60;43;19;60	ENSP00000265678:E35Q;ENSP00000422435:E60Q;ENSP00000427015:E43Q;ENSP00000423114:E19Q;ENSP00000425148:E60Q	ENSP00000265678:E35Q	E	-	1	0	RPS6KA2	166872259	1.000000	0.71417	0.271000	0.24616	0.269000	0.26545	7.201000	0.77847	2.434000	0.82447	0.655000	0.94253	GAA		PASS	0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		13	59	13	59	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167791471	167791471	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:167791471C>A	ENST00000397829.4	-	4	556	c.389G>T	c.(388-390)tGg>tTg	p.W130L	TCP10_ENST00000366827.2_Missense_Mutation_p.W130L	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	157						cytosol (GO:0005829)		p.W130L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTTAGATGACCATCTTTGTCC	0.493																																						uc003qvv.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(388-390)TGG>TTG		t-complex 10							180.0	192.0	188.0					6																	167791471		2203	4299	6502	SO:0001583	missense	6953					cytosol		g.chr6:167791471C>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.389G>T	6.37:g.167791471C>A	ENSP00000380929:p.Trp130Leu					TCP10_uc003qvu.2_Missense_Mutation_p.W130L|TCP10_uc003qvw.2_Missense_Mutation_p.W106L	p.W130L	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	4	601	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	157					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.389G>T	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.507782	0.00010	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000460930	T;T;T	0.32988	2.04;2.07;1.43	1.4	-2.81	0.05805	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.30446	-0.9978	9	0.10902	T	0.67	.	0.9623	0.01398	0.1503:0.3276:0.2025:0.3196	.	130;157;157	D1MPS5;Q12799;Q12799-2	.;TCP10_HUMAN;.	L	130;130;126	ENSP00000355792:W130L;ENSP00000380929:W130L;ENSP00000426065:W126L	ENSP00000355792:W130L	W	-	2	0	TCP10	167711461	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.449000	0.01008	-2.874000	0.00322	-0.647000	0.03941	TGG		PASS	0.493	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		18	71	18	71	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168352705	168352705	+	Missense_Mutation	SNP	C	C	G	rs373902959		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr6:168352705C>G	ENST00000447894.2	+	29	4650	c.4650C>G	c.(4648-4650)agC>agG	p.S1550R	MLLT4_ENST00000400822.3_Missense_Mutation_p.S1549R|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1550R|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1550R|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1557R|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1533R|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1550R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1550					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.S1534R(1)|p.S1550R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGGACCGCAGCGCCGAGGAGA	0.607			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(4645-4647)AGC>AGG		myeloid/lymphoid or mixed-lineage leukemia							50.0	51.0	50.0					6																	168352705		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352705C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4650C>G	6.37:g.168352705C>G	ENSP00000404595:p.Ser1550Arg					MLLT4_uc003qwb.1_Missense_Mutation_p.S1534R|MLLT4_uc003qwc.1_Missense_Mutation_p.S1550R|MLLT4_uc003qwg.1_Missense_Mutation_p.S859R	p.S1549R	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	29	4789	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1550			Potential.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4647C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.07|11.07	1.530000|1.530000	0.27387|0.27387	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000507704;ENST00000476946|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.41400	.|3.64;1.0;3.65;1.0;1.0;1.16;1.0	5.34|5.34	-10.7|-10.7	0.00240|0.00240	.|.	.|0.382752	.|0.28382	.|N	.|0.015546	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.33826	.|0.302;0.427;0.355;0.355	.|B;B;B;B	.|0.39503	.|0.151;0.289;0.301;0.24	T|T	0.08269|0.08269	-1.0730|-1.0730	5|10	.|0.42905	.|T	.|0.14	-18.2229|-18.2229	5.5482|5.5482	0.17076|0.17076	0.1086:0.0931:0.2535:0.5448|0.1086:0.0931:0.2535:0.5448	.|.	.|1550;1549;1550;1534	.|P55196;P55196-5;P55196-6;P55196-2	.|AFAD_HUMAN;.;.;.	G|R	41;26|1550;1557;1550;1550;1533;1550;1549;1550	.|ENSP00000341118:S1550R;ENSP00000252692:S1557R;ENSP00000375956:S1550R;ENSP00000355771:S1550R;ENSP00000375960:S1533R;ENSP00000383623:S1549R;ENSP00000404595:S1550R	.|ENSP00000345834:S1550R	A|S	+|+	2|3	0|2	MLLT4|MLLT4	168095554|168095554	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.732000|0.732000	0.41865|0.41865	-2.365000|-2.365000	0.01079|0.01079	-2.133000|-2.133000	0.00813|0.00813	0.655000|0.655000	0.94253|0.94253	GCG|AGC		PASS	0.607	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		5	19	5	19	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21630856	21630856	+	Silent	SNP	G	G	T	rs372387032		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:21630856G>T	ENST00000409508.3	+	14	2359	c.2328G>T	c.(2326-2328)acG>acT	p.T776T	DNAH11_ENST00000328843.6_Silent_p.T776T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	776	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T776T(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAAACAGACGCTCCTGGAAG	0.448									Kartagener syndrome																													uc003svc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2326-2328)ACG>ACT		dynein, axonemal, heavy chain 11							42.0	44.0	43.0					7																	21630856		1883	4103	5986	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21630856G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2328G>T	7.37:g.21630856G>T							p.T776T	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			14	2359	+			776			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2328G>T																																																																																					PASS	0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	17	10	17	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21775367	21775367	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:21775367C>A	ENST00000409508.3	+	46	7581	c.7550C>A	c.(7549-7551)aCa>aAa	p.T2517K	DNAH11_ENST00000328843.6_Missense_Mutation_p.T2524K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2524	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T2524K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGGAAAAACAGTCTTTGTA	0.433									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7570-7572)ACA>AAA		dynein, axonemal, heavy chain 11							166.0	165.0	165.0					7																	21775367		1916	4135	6051	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21775367C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7550C>A	7.37:g.21775367C>A	ENSP00000475939:p.Thr2517Lys						p.T2524K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			47	7602	+			2524			AAA 3 (By similarity).|ATP (Potential).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7571C>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.339172	0.81911	.	.	ENSG00000105877	ENST00000328843	T	0.65178	-0.14	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.050386	0.85682	N	0.000000	T	0.80889	0.4710	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83751	0.0209	9	0.87932	D	0	.	18.7331	0.91742	0.0:1.0:0.0:0.0	.	2524	Q96DT5	DYH11_HUMAN	K	2524	ENSP00000330671:T2524K	ENSP00000330671:T2524K	T	+	2	0	DNAH11	21741892	1.000000	0.71417	0.908000	0.35775	0.652000	0.38707	7.479000	0.81095	2.498000	0.84270	0.655000	0.94253	ACA		PASS	0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		18	34	18	34	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30915170	30915170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:30915170G>T	ENST00000265299.6	+	15	1947	c.1870G>T	c.(1870-1872)Gag>Tag	p.E624*	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Nonsense_Mutation_p.E87*	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	624								p.E624*(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGATGTGGTTGAGCTGGATTC	0.468																																						uc003tbt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1870-1872)GAG>TAG		hypothetical protein LOC84182							268.0	268.0	268.0					7																	30915170		2026	4186	6212	SO:0001587	stop_gained	84182							g.chr7:30915170G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1870G>T	7.37:g.30915170G>T	ENSP00000265299:p.Glu624*					FAM188B_uc010kwe.2_Nonsense_Mutation_p.E595*|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Nonsense_Mutation_p.E144*	p.E624*	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			15	1947	+			624					Q71AZ7|Q9H6D2	Nonsense_Mutation	SNP	ENST00000265299.6	37	c.1870G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	37	6.204708	0.97376	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.7808	17.2706	0.87101	0.0:0.0:1.0:0.0	.	.	.	.	X	624;144;87	.	ENSP00000265299:E624X	E	+	1	0	RP5-877J2.1;FAM188B	30881695	1.000000	0.71417	0.974000	0.42286	0.275000	0.26752	4.754000	0.62191	2.698000	0.92095	0.650000	0.86243	GAG		PASS	0.468	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		56	89	56	89	---	---	---	---
RALA	5898	broad.mit.edu	37	7	39730117	39730117	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:39730117G>A	ENST00000005257.2	+	3	631	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	84					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R84Q(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AACTACTTCCGAAGTGGGGAG	0.463																																						uc003thd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(250-252)CGA>CAA		ras related v-ral simian leukemia viral oncogene							85.0	85.0	85.0					7																	39730117		2203	4300	6503	SO:0001583	missense	5898				actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity	g.chr7:39730117G>A		CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.251G>A	7.37:g.39730117G>A	ENSP00000005257:p.Arg84Gln						p.R84Q	NM_005402	NP_005393	P11233	RALA_HUMAN			3	551	+			84					A4D1W3	Missense_Mutation	SNP	ENST00000005257.2	37	c.251G>A	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650299	0.96714	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	D;T	0.81821	-1.54;-0.63	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.92710	0.6182	10	0.87932	D	0	.	18.6095	0.91279	0.0:0.0:1.0:0.0	.	84	P11233	RALA_HUMAN	Q	84	ENSP00000005257:R84Q;ENSP00000388975:R84Q	ENSP00000005257:R84Q	R	+	2	0	RALA	39696642	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.601000	0.98297	2.631000	0.89168	0.467000	0.42956	CGA		PASS	0.463	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402		18	35	18	35	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40899991	40899991	+	Silent	SNP	C	C	T	rs368801829		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:40899991C>T	ENST00000335693.4	+	14	1274	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	C7orf10_ENST00000309930.5_Silent_p.H443H|C7orf10_ENST00000401647.2_Silent_p.H369H|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		417					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.H443H(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACACAACGCACATCCTGAAGG	0.577																																						uc003thn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1228-1230)CAC>CAT		dermal papilla derived protein 13		C	,,,	0,4240		0,0,2120	96.0	106.0	103.0		1329,1107,1251,1218	-1.5	0.2	7		103	1,8469		0,1,4234	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C7orf10	NM_001193311.1,NM_001193312.1,NM_001193313.1,NM_024728.2	,,,	0,1,6354	TT,TC,CC		0.0118,0.0,0.0079	,,,	443/472,369/398,417/446,406/435	40899991	1,12709	2120	4235	6355	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40899991C>T																												ENST00000335693.4:c.1251C>T	7.37:g.40899991C>T						C7orf10_uc003thm.1_Silent_p.H406H|C7orf10_uc003tho.1_Silent_p.H362H|C7orf10_uc003thp.1_RNA	p.H410H	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			14	1275	+			417					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.1230C>T	CCDS55105.1																																																																																				PASS	0.577	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			14	48	14	48	---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48026964	48026964	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:48026964C>A	ENST00000297325.4	-	10	1196	c.1037G>T	c.(1036-1038)cGa>cTa	p.R346L	SUN3_ENST00000395572.2_Missense_Mutation_p.R346L|SUN3_ENST00000412142.1_Missense_Mutation_p.R258L|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000453192.2_Missense_Mutation_p.R334L	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	346	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.R346L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCTGAATCGATATAAACA	0.383																																						uc003tof.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1036-1038)CGA>CTA		Sad1 and UNC84 domain containing 1							173.0	166.0	168.0					7																	48026964		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48026964C>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.1037G>T	7.37:g.48026964C>A	ENSP00000297325:p.Arg346Leu					SUN3_uc010kyq.2_Missense_Mutation_p.R258L|SUN3_uc003tog.2_Missense_Mutation_p.R346L|SUN3_uc011kcf.1_Missense_Mutation_p.R334L	p.R346L	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			11	1134	-			346			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.1037G>T	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.452562|4.452562	0.84209|0.84209	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000453071|ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	5.64|5.64	4.76|4.76	0.60689|0.60689	.|Sad1/UNC-like, C-terminal (2);	.|0.061237	.|0.64402	.|D	.|0.000005	T|T	0.71660|0.71660	0.3366|0.3366	M|M	0.93939|0.93939	3.475|3.475	0.51233|0.51233	D|D	0.99991|0.99991	.|D;D;D	.|0.89917	.|1.0;1.0;0.997	.|D;D;D	.|0.91635	.|0.999;0.993;0.95	T|T	0.79052|0.79052	-0.1961|-0.1961	5|10	.|0.87932	.|D	.|0	.|.	12.2879|12.2879	0.54803|0.54803	0.0:0.9177:0.0:0.0823|0.0:0.9177:0.0:0.0823	.|.	.|334;258;346	.|E7EWC8;Q8TAQ9-2;Q8TAQ9	.|.;.;SUN3_HUMAN	Y|L	270|346;258;346;334;258	.|ENSP00000297325:R346L;ENSP00000410204:R258L;ENSP00000378939:R346L;ENSP00000387525:R334L;ENSP00000409077:R258L	.|ENSP00000297325:R346L	D|R	-|-	1|2	0|0	SUN3|SUN3	47993489|47993489	1.000000|1.000000	0.71417|0.71417	0.841000|0.841000	0.33234|0.33234	0.785000|0.785000	0.44390|0.44390	7.237000|7.237000	0.78164|0.78164	1.383000|1.383000	0.46405|0.46405	0.585000|0.585000	0.79938|0.79938	GAT|CGA		PASS	0.383	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		4	76	4	76	---	---	---	---
SSC4D	136853	broad.mit.edu	37	7	76033672	76033672	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:76033672G>C	ENST00000275560.3	-	2	432	c.85C>G	c.(85-87)Cct>Gct	p.P29A	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.P29A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572																																						uc003ufb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(85-87)CCT>GCT		scavenger receptor cysteine rich domain							118.0	106.0	110.0					7																	76033672		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033672G>C																												ENST00000275560.3:c.85C>G	7.37:g.76033672G>C	ENSP00000275560:p.Pro29Ala					ZP3_uc003ufc.3_Intron	p.P29A	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			2	433	-			29						Missense_Mutation	SNP	ENST00000275560.3	37	c.85C>G	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	g	6.765	0.510125	0.12883	.	.	ENSG00000146700	ENST00000275560	T	0.01165	5.24	4.99	2.22	0.28083	.	0.382752	0.24757	N	0.035844	T	0.01353	0.0044	L	0.60455	1.87	0.09310	N	0.999998	B	0.23316	0.083	B	0.21546	0.035	T	0.45071	-0.9286	10	0.27785	T	0.31	.	4.2933	0.10888	0.185:0.0:0.6335:0.1815	.	29	Q8WTU2	SRB4D_HUMAN	A	29	ENSP00000275560:P29A	ENSP00000275560:P29A	P	-	1	0	SRCRB4D	75871608	0.001000	0.12720	0.003000	0.11579	0.067000	0.16453	0.253000	0.18296	0.837000	0.34925	-0.231000	0.12243	CCT		PASS	0.572	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3			3	20	3	20	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81331913	81331913	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:81331913T>A	ENST00000222390.5	-	18	2397	c.2171A>T	c.(2170-2172)aAg>aTg	p.K724M	HGF_ENST00000457544.2_Missense_Mutation_p.K719M	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	724					activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.K724M(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTGTGGTACCTTATATGTTAA	0.368																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2170-2172)AAG>ATG		hepatocyte growth factor isoform 1							131.0	128.0	129.0					7																	81331913		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81331913T>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2171A>T	7.37:g.81331913T>A	ENSP00000222390:p.Lys724Met					HGF_uc003uhm.2_Missense_Mutation_p.K719M	p.K724M	NM_000601	NP_000592	P14210	HGF_HUMAN			18	2336	-			724					A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.2171A>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859391	0.51376	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88896	-2.44;-2.41	5.3	5.3	0.74995	.	0.303370	0.34245	N	0.004127	D	0.88998	0.6590	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.61477	0.889;0.778	D	0.89704	0.3907	10	0.87932	D	0	.	10.3182	0.43749	0.0:0.0838:0.0:0.9162	.	719;724	P14210-3;P14210	.;HGF_HUMAN	M	724;719	ENSP00000222390:K724M;ENSP00000391238:K719M	ENSP00000222390:K724M	K	-	2	0	HGF	81169849	1.000000	0.71417	0.814000	0.32528	0.785000	0.44390	2.416000	0.44644	2.135000	0.66039	0.533000	0.62120	AAG		PASS	0.368	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		35	27	35	27	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89874839	89874839	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:89874839C>A	ENST00000389297.4	+	1	352	c.101C>A	c.(100-102)aCg>aAg	p.T34K	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.T34K|C7orf63_ENST00000316089.8_Missense_Mutation_p.T34K	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		34								p.T34K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGGGTGGTGACGGAGGACGAT	0.622																																						uc010lep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(100-102)ACG>AAG		hypothetical protein LOC79846 isoform 1							128.0	143.0	138.0					7																	89874839		2041	4208	6249	SO:0001583	missense	79846						binding	g.chr7:89874839C>A																												ENST00000389297.4:c.101C>A	7.37:g.89874839C>A	ENSP00000373948:p.Thr34Lys					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.T34K|C7orf63_uc010leo.2_Missense_Mutation_p.T34K	p.T34K	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			1	352	+			34					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.101C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698345	0.15106	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.42131	0.98;0.98;0.98	4.44	3.54	0.40534	.	.	.	.	.	T	0.36138	0.0956	L	0.54323	1.7	0.09310	N	1	B;P;P	0.43352	0.117;0.491;0.804	B;B;B	0.38712	0.04;0.144;0.28	T	0.23691	-1.0181	9	0.54805	T	0.06	0.0265	7.6138	0.28145	0.0:0.88:0.0:0.12	.	34;34;34	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	K	34	ENSP00000373948:T34K;ENSP00000321753:T34K;ENSP00000419549:T34K	ENSP00000321753:T34K	T	+	2	0	C7orf63	89712775	0.857000	0.29778	0.477000	0.27303	0.130000	0.20726	1.793000	0.38764	1.172000	0.42781	0.655000	0.94253	ACG		PASS	0.622	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			61	65	61	65	---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90419888	90419888	+	Splice_Site	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:90419888G>A	ENST00000380050.3	+	5	596	c.465G>A	c.(463-465)aaG>aaA	p.K155K	CDK14_ENST00000265741.3_Splice_Site_p.K137K|CDK14_ENST00000436577.2_Splice_Site_p.R26R|CDK14_ENST00000406263.1_Splice_Site_p.K109K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.K155K(1)|p.K137K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTTCTCACAGGGTAAATGGGA	0.358																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(1)	4						c.(463-465)AAG>AAA		PFTAIRE protein kinase 1							142.0	139.0	140.0					7																	90419888		2203	4300	6503	SO:0001630	splice_region_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90419888G>A		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.465-1G>A	7.37:g.90419888G>A						CDK14_uc003ukt.1_Silent_p.K109K|CDK14_uc003ukv.1_Silent_p.K109K|CDK14_uc003uku.1_Silent_p.K109K|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Silent_p.K137K|CDK14_uc010les.1_Silent_p.K109K|CDK14_uc011khl.1_Silent_p.R26R	p.K155K	NM_012395	NP_036527	O94921	CDK14_HUMAN			5	687	+			155			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	ENST00000380050.3	37	c.465G>A																																																																																					PASS	0.358	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	Silent	14	20	14	20	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92848755	92848755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:92848755G>T	ENST00000394468.2	-	2	166	c.89C>A	c.(88-90)tCg>tAg	p.S30*	HEPACAM2_ENST00000341723.4_Nonsense_Mutation_p.S18*|HEPACAM2_ENST00000453812.2_Nonsense_Mutation_p.S53*|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.S18*	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	30					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.S30*(1)|p.S18*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTCAGCCCCGAGCAAGCACC	0.517																																						uc003umm.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(88-90)TCG>TAG		HEPACAM family member 2 isoform 1							134.0	130.0	131.0					7																	92848755		2203	4300	6503	SO:0001587	stop_gained	253012					integral to membrane		g.chr7:92848755G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.89C>A	7.37:g.92848755G>T	ENSP00000377980:p.Ser30*					HEPACAM2_uc003uml.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc010lff.2_Nonsense_Mutation_p.S18*|HEPACAM2_uc011khy.1_Nonsense_Mutation_p.S53*	p.S30*	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			2	112	-			30					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	c.89C>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156931	0.94686	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	.	.	.	5.57	-0.532	0.11890	.	0.606203	0.17047	N	0.189070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	0.9851	10.2455	0.43339	0.3897:0.0:0.6103:0.0	.	.	.	.	X	30;18;18;53	.	ENSP00000340532:S18X	S	-	2	0	HEPACAM2	92686691	0.135000	0.22499	0.005000	0.12908	0.917000	0.54804	0.311000	0.19380	-0.315000	0.08703	0.650000	0.86243	TCG		PASS	0.517	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		5	114	5	114	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94058503	94058503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:94058503G>T	ENST00000297268.6	+	51	4186	c.3715G>T	c.(3715-3717)Gaa>Taa	p.E1239*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1239	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.E1239*(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTGTAGTTTGAATATAATGT	0.388										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Nonsense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3715-3717)GAA>TAA		alpha 2 type I collagen precursor	Collagenase(DB00048)						49.0	52.0	51.0					7																	94058503		2203	4300	6503	SO:0001587	stop_gained	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058503G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3715G>T	7.37:g.94058503G>T	ENSP00000297268:p.Glu1239*	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.E1239*	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4186	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1239			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Nonsense_Mutation	SNP	ENST00000297268.6	37	c.3715G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	44	10.682551	0.99449	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.09	5.09	0.68999	.	0.183015	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	19.3978	0.94614	0.0:0.0:1.0:0.0	.	.	.	.	X	1239;1240	.	ENSP00000297268:E1239X	E	+	1	0	COL1A2	93896439	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	5.425000	0.66470	2.756000	0.94617	0.655000	0.94253	GAA		PASS	0.388	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		17	21	17	21	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98601940	98601940	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:98601940C>A	ENST00000359863.4	+	67	10604	c.10395C>A	c.(10393-10395)tgC>tgA	p.C3465*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.C3436*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.C3454*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3465					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.C3465*(1)|p.C3436*(1)		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)			AGGAAAAGTGCCGGTTCTTGA	0.428																																						uc003upp.2																			2	Substitution - Nonsense(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.(10393-10395)TGC>TGA		transformation/transcription domain-associated							90.0	101.0	97.0					7																	98601940		2203	4300	6503	SO:0001587	stop_gained	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.chr7:98601940C>A	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.10395C>A	7.37:g.98601940C>A	ENSP00000352925:p.Cys3465*					TRRAP_uc011kis.1_Nonsense_Mutation_p.C3436*|TRRAP_uc003upr.2_Nonsense_Mutation_p.C3171*	p.C3465*	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		67	10604	+	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)		3465					A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	c.10395C>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	18.900031|18.900031	0.99912|0.99912	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|.	.|.	.|.	5.46|5.46	2.18|2.18	0.27775|0.27775	.|.	.|0.049803	.|0.85682	.|D	.|0.000000	T|.	0.23210|.	0.0561|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35475|.	-0.9787|.	3|.	.|0.02654	.|T	.|1	.|.	9.7164|9.7164	0.40276|0.40276	0.0:0.678:0.0:0.322|0.0:0.678:0.0:0.322	.|.	.|.	.|.	.|.	D|X	3194|3465;3436;3453	.|.	.|ENSP00000347733:C3436X	A|C	+|+	2|3	0|2	TRRAP|TRRAP	98439876|98439876	0.796000|0.796000	0.28864|0.28864	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	-0.056000|-0.056000	0.11787|0.11787	0.663000|0.663000	0.31027|0.31027	0.650000|0.650000	0.86243|0.86243	GCC|TGC		PASS	0.428	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		5	161	5	161	---	---	---	---
NYAP1	222950	broad.mit.edu	37	7	100086350	100086350	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:100086350C>A	ENST00000300179.2	+	4	1165	c.1006C>A	c.(1006-1008)Cca>Aca	p.P336T	NYAP1_ENST00000423930.1_Missense_Mutation_p.P336T|NYAP1_ENST00000454988.1_Missense_Mutation_p.P279T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	336	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.P336T(1)									GCACCGGCCTCCACTCCTGGC	0.667																																						uc003uvd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1006-1008)CCA>ACA		hypothetical protein FLJ37538							48.0	48.0	48.0					7																	100086350		2197	4290	6487	SO:0001583	missense	222950							g.chr7:100086350C>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1006C>A	7.37:g.100086350C>A	ENSP00000300179:p.Pro336Thr					C7orf51_uc003uve.1_Missense_Mutation_p.P118T	p.P336T	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			4	1165	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		336			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1006C>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452941	0.63290	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.79653	-1.29;-1.29;-1.29	4.97	4.97	0.65823	.	0.000000	0.48286	D	0.000183	D	0.87692	0.6241	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88981	0.3408	10	0.87932	D	0	-9.9501	15.7143	0.77655	0.0:1.0:0.0:0.0	.	279;336	C9JS30;Q6ZVC0	.;CG051_HUMAN	T	336;336;279	ENSP00000300179:P336T;ENSP00000411861:P336T;ENSP00000394424:P279T	ENSP00000300179:P336T	P	+	1	0	C7orf51	99924286	1.000000	0.71417	0.996000	0.52242	0.852000	0.48524	7.041000	0.76558	2.299000	0.77371	0.462000	0.41574	CCA		PASS	0.667	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		27	18	27	18	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100490928	100490928	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:100490928G>C	ENST00000412389.1	-	1	1081	c.926C>G	c.(925-927)gCg>gGg	p.A309G	ACHE_ENST00000411582.1_Missense_Mutation_p.A309G|ACHE_ENST00000428317.1_Missense_Mutation_p.A309G|ACHE_ENST00000419336.2_Missense_Mutation_p.A309G|ACHE_ENST00000302913.4_Missense_Mutation_p.A309G|ACHE_ENST00000241069.5_Missense_Mutation_p.A309G|ACHE_ENST00000497647.1_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	309					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.A309G(2)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CAGGACCTGCGCTGGTCGTGT	0.622																																						uc003uxd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(925-927)GCG>GGG		acetylcholinesterase isoform E4-E6 precursor	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						87.0	66.0	73.0					7																	100490928		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490928G>C		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.926C>G	7.37:g.100490928G>C	ENSP00000394976:p.Ala309Gly					ACHE_uc003uxe.2_Missense_Mutation_p.A309G|ACHE_uc003uxf.2_Missense_Mutation_p.A309G|ACHE_uc003uxg.2_Missense_Mutation_p.A309G|ACHE_uc003uxh.2_Missense_Mutation_p.A309G|ACHE_uc003uxi.2_Missense_Mutation_p.A309G|ACHE_uc003uxj.1_Missense_Mutation_p.A428G	p.A309G	NM_000665	NP_000656	P22303	ACES_HUMAN			1	1082	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		309					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.926C>G	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894355	0.52121	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	4.95	4.95	0.65309	Carboxylesterase, type B (1);	0.110415	0.64402	D	0.000010	T	0.39332	0.1074	M	0.67569	2.06	0.51767	D	0.999936	B;D;P;B	0.54601	0.367;0.967;0.715;0.246	B;P;B;B	0.50896	0.189;0.653;0.289;0.189	T	0.31081	-0.9956	10	0.54805	T	0.06	.	15.6562	0.77136	0.0:0.0:1.0:0.0	.	309;309;309;309	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	G	309	ENSP00000403474:A309G;ENSP00000241069:A309G;ENSP00000414858:A309G;ENSP00000303211:A309G;ENSP00000394976:A309G;ENSP00000397143:A309G;ENSP00000399725:A309G;ENSP00000404865:A309G	ENSP00000241069:A309G	A	-	2	0	ACHE	100328864	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.268000	0.78473	2.281000	0.76405	0.484000	0.47621	GCG		PASS	0.622	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		11	9	11	9	---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103004624	103004624	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:103004624C>A	ENST00000435765.1	+	9	1037	c.626C>A	c.(625-627)cCc>cAc	p.P209H	PSMC2_ENST00000292644.3_Missense_Mutation_p.P209H|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.P72H|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	209					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)|ATP catabolic process (GO:0006200)|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)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P209H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ATTGAGCCTCCCAAGGGCGTG	0.478																																						uc003vbs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)CCC>CAC		proteasome 26S ATPase subunit 2							103.0	89.0	94.0					7																	103004624		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103004624C>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.626C>A	7.37:g.103004624C>A	ENSP00000391211:p.Pro209His					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.P72H	p.P209H	NM_002803	NP_002794	P35998	PRS7_HUMAN			8	696	+			209					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.626C>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088080	0.94100	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.95238	-3.65;-3.65;-3.65	5.39	5.39	0.77823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98455	1.0593	10	0.87932	D	0	-11.1608	19.2179	0.93785	0.0:1.0:0.0:0.0	.	209	P35998	PRS7_HUMAN	H	209;209;72	ENSP00000391211:P209H;ENSP00000292644:P209H;ENSP00000445546:P72H	ENSP00000292644:P209H	P	+	2	0	PSMC2	102791860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.534000	0.85438	0.650000	0.86243	CCC		PASS	0.478	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		5	43	5	43	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122774567	122774567	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:122774567G>T	ENST00000194130.2	-	8	868	c.829C>A	c.(829-831)Cgt>Agt	p.R277S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	277			R -> H (in dbSNP:rs28364200).		transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.R277S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTGAGGCAACGACAGTCAGGA	0.483																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(829-831)CGT>AGT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						176.0	142.0	153.0					7																	122774567		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122774567G>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.829C>A	7.37:g.122774567G>T	ENSP00000194130:p.Arg277Ser					SLC13A1_uc010lks.2_Missense_Mutation_p.R153S	p.R277S	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			8	854	-			277					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.829C>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	g	0.390	-0.923791	0.02377	.	.	ENSG00000081800	ENST00000194130	T	0.02709	4.19	5.72	2.91	0.33838	.	1.240530	0.05113	N	0.489261	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.49163	-0.8968	10	0.13108	T	0.6	-19.8861	10.8828	0.46948	0.0:0.3992:0.4634:0.1375	.	277;277	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	277	ENSP00000194130:R277S	ENSP00000194130:R277S	R	-	1	0	SLC13A1	122561803	0.765000	0.28485	0.001000	0.08648	0.050000	0.14768	1.304000	0.33482	0.430000	0.26230	-0.121000	0.15023	CGT		PASS	0.483	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		39	23	39	23	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131817907	131817907	+	Silent	SNP	G	G	A	rs201396021		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:131817907G>A	ENST00000359827.3	-	31	6452	c.5490C>T	c.(5488-5490)aaC>aaT	p.N1830N	PLXNA4_ENST00000321063.4_Silent_p.N1830N			Q9HCM2	PLXA4_HUMAN	plexin A4	1830					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.N1830N(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGCGTTCATGTCTT	0.507																																						uc003vra.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(5488-5490)AAC>AAT		plexin A4 isoform 1		G		0,4394		0,0,2197	144.0	146.0	145.0		5490	-6.5	0.2	7		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA4	NM_020911.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1830/1895	131817907	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817907G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5490C>T	7.37:g.131817907G>A						PLXNA4_uc003vqz.3_Silent_p.N115N	p.N1830N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			31	5719	-			1830			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5490C>T	CCDS43646.1																																																																																				PASS	0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		28	56	28	56	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138591710	138591710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:138591710C>A	ENST00000422774.1	-	6	3463	c.3415G>T	c.(3415-3417)Gag>Tag	p.E1139*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.E1089*|KIAA1549_ENST00000440172.1_Nonsense_Mutation_p.E1139*			Q9HCM3	K1549_HUMAN	KIAA1549	1139						integral component of membrane (GO:0016021)		p.E1089*(1)|p.E1139*(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACTGAACTCCACCACACTC	0.537			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(3415-3417)GAG>TAG		hypothetical protein LOC57670 isoform 1							93.0	90.0	91.0					7																	138591710		1979	4151	6130	SO:0001587	stop_gained	57670					integral to membrane		g.chr7:138591710C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3415G>T	7.37:g.138591710C>A	ENSP00000416040:p.Glu1139*					KIAA1549_uc003vuk.3_Nonsense_Mutation_p.E1089*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.E1139*	p.E1139*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			6	3464	-			1139					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Nonsense_Mutation	SNP	ENST00000422774.1	37	c.3415G>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	43	10.317315	0.99382	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.8527	0.88752	0.0:1.0:0.0:0.0	.	.	.	.	X	1139;1089;1139	.	ENSP00000242365:E1089X	E	-	1	0	KIAA1549	138242250	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.291000	0.78721	2.683000	0.91414	0.655000	0.94253	GAG		PASS	0.537	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			46	56	46	56	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141722156	141722156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:141722156G>T	ENST00000549489.2	+	7	894	c.799G>T	c.(799-801)Gga>Tga	p.G267*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.G267*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	267	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G267*(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGGCCTGGGAGAGCATGT	0.502																																						uc003vwy.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(2)	2						c.(799-801)GGA>TGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						151.0	144.0	146.0					7																	141722156		2010	4187	6197	SO:0001587	stop_gained	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141722156G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.799G>T	7.37:g.141722156G>T	ENSP00000447378:p.Gly267*						p.G267*	NM_004668	NP_004659	O43451	MGA_HUMAN			7	853	+	Melanoma(164;0.0272)		267			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.799G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056168	0.98032	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.55	5.55	0.83447	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	.	.	.	X	267;267;144	.	ENSP00000316431:G144X	G	+	1	0	MGAM	141368625	1.000000	0.71417	0.980000	0.43619	0.770000	0.43624	9.460000	0.97641	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			66	75	66	75	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142562440	142562440	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:142562440A>T	ENST00000392957.2	+	7	1669	c.882A>T	c.(880-882)gtA>gtT	p.V294V	EPHB6_ENST00000442129.1_Silent_p.V294V|EPHB6_ENST00000411471.2_Splice_Site	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	294	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.V279V(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGTGGATGGTAGCTGTCGGGG	0.657																																						uc011kst.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(880-882)GTA>GTT		ephrin receptor EphB6 precursor							32.0	39.0	37.0					7																	142562440		2114	4197	6311	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562440A>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.882A>T	7.37:g.142562440A>T						EPHB6_uc011ksu.1_Silent_p.V294V|EPHB6_uc003wbs.2_Silent_p.V2V|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Silent_p.V2V|EPHB6_uc003wbv.2_5'Flank	p.V294V	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	1669	+	Melanoma(164;0.059)		294			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.882A>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	A	3.638	-0.074062	0.07184	.	.	ENSG00000106123	ENST00000411471	.	.	.	5.04	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3596	0.26739	0.121:0.2902:0.4931:0.0957	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB6	142272562	0.001000	0.12720	0.019000	0.16419	0.703000	0.40648	-1.651000	0.01989	-2.383000	0.00592	-0.429000	0.05907	.		PASS	0.657	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			9	11	9	11	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142609900	142609900	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:142609900G>T	ENST00000265310.1	-	13	1884	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	512					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.F512L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTCTGTCTGGAAAATGATAT	0.463																																						uc003wby.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1534-1536)TTC>TTA		transient receptor potential cation channel,							114.0	106.0	109.0					7																	142609900		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609900G>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1536C>A	7.37:g.142609900G>T	ENSP00000265310:p.Phe512Leu						p.F512L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			13	1800	-	Melanoma(164;0.059)		512			Helical; (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.1536C>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769805	0.69992	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.87103	-2.21;-2.21	5.52	4.63	0.57726	Ion transport (1);	0.107907	0.64402	D	0.000004	D	0.90511	0.7027	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86690	0.1922	10	0.18710	T	0.47	-17.377	12.9094	0.58171	0.1302:0.0:0.8698:0.0	.	512	Q9NQA5	TRPV5_HUMAN	L	512;457	ENSP00000265310:F512L;ENSP00000406361:F457L	ENSP00000265310:F512L	F	-	3	2	TRPV5	142320022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.803000	0.62546	2.751000	0.94390	0.655000	0.94253	TTC		PASS	0.463	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		9	83	9	83	---	---	---	---
OR2A7	401427	broad.mit.edu	37	7	143956017	143956017	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:143956017T>A	ENST00000493325.1	-	1	798	c.705A>T	c.(703-705)aaA>aaT	p.K235N	OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TGCAGAAGGCTTTCCTCTGAA	0.478																																						uc011kuc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(703-705)AAA>AAT		olfactory receptor, family 2, subfamily A,							185.0	188.0	187.0					7																	143956017		2203	4300	6503	SO:0001583	missense	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956017T>A		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.705A>T	7.37:g.143956017T>A	ENSP00000420502:p.Lys235Asn					OR2A9P_uc003wec.1_Intron|uc003wed.2_5'Flank	p.K235N	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN			1	705	-	Melanoma(164;0.14)		235			Cytoplasmic (Potential).		B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	c.705A>T	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	t	10.70	1.423851	0.25639	.	.	ENSG00000243896	ENST00000493325	T	0.00374	7.72	3.17	0.775	0.18527	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01287	0.0042	H	0.96208	3.785	0.28064	N	0.932853	D	0.89917	1.0	D	0.91635	0.999	T	0.25398	-1.0133	9	0.87932	D	0	.	6.2462	0.20818	0.0:0.2356:0.0:0.7644	.	235	Q96R45	OR2A7_HUMAN	N	235	ENSP00000420502:K235N	ENSP00000420502:K235N	K	-	3	2	OR2A7	143586950	0.005000	0.15991	0.980000	0.43619	0.037000	0.13140	-1.329000	0.02677	0.150000	0.19136	0.416000	0.27883	AAA		PASS	0.478	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			8	81	8	81	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149191124	149191124	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:149191124T>C	ENST00000340622.3	-	3	642	c.362A>G	c.(361-363)tAc>tGc	p.Y121C	ZNF746_ENST00000461958.2_Missense_Mutation_p.Y121C|ZNF746_ENST00000458143.2_Missense_Mutation_p.Y121C			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	121	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.Y121C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACGTGCTTGTAGAGCTCCTT	0.532																																						uc003wfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(361-363)TAC>TGC		zinc finger protein 746 isoform 2							211.0	175.0	187.0					7																	149191124		2203	4300	6503	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149191124T>C	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.362A>G	7.37:g.149191124T>C	ENSP00000345140:p.Tyr121Cys					ZNF746_uc010lpi.2_Missense_Mutation_p.Y121C	p.Y121C	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		3	633	-	Melanoma(164;0.165)		121			KRAB.		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.362A>G	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	.	14.95	2.688838	0.48097	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	T;T	0.07021	3.23;3.23	4.54	4.54	0.55810	Krueppel-associated box (4);	0.000000	0.42172	D	0.000741	T	0.34019	0.0883	M	0.89715	3.055	0.39021	D	0.959742	B;D	0.89917	0.357;1.0	B;D	0.87578	0.214;0.998	T	0.43147	-0.9409	10	0.87932	D	0	-11.1643	11.846	0.52385	0.0:0.0:0.0:1.0	.	121;121	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	C	121;121;108	ENSP00000345140:Y121C;ENSP00000395007:Y121C	ENSP00000345140:Y121C	Y	-	2	0	ZNF746	148822057	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.044000	0.64214	1.685000	0.51034	0.334000	0.21626	TAC		PASS	0.532	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		7	130	7	130	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149478003	149478003	+	RNA	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:149478003C>T	ENST00000378016.2	+	0	1774							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGCTACAGCCTGGTGCAGGT	0.642																																						uc010lpk.2																			0					0						c.(1774-1776)CTG>TTG		SCO-spondin precursor							43.0	49.0	47.0					7																	149478003		2130	4233	6363			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149478003C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149478003C>T						SSPO_uc010lpl.1_Intron	p.L592L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		13	1774	+	Melanoma(164;0.165)|Ovarian(565;0.177)		592			VWFD 2.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.1774C>T																																																																																					PASS	0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				15	7	15	7	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846205	150846205	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:150846205T>C	ENST00000297537.4	-	2	562	c.563A>G	c.(562-564)gAt>gGt	p.D188G	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	188					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D188G(1)		large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTCTCCTCATCTGAGCTGTA	0.572																																						uc011kvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAT>GGT		gastrulation brain homeo box 1							176.0	190.0	185.0					7																	150846205		2088	4220	6308	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846205T>C	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.563A>G	7.37:g.150846205T>C	ENSP00000297537:p.Asp188Gly						p.D188G	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	795	-			188						Missense_Mutation	SNP	ENST00000297537.4	37	c.563A>G	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708896	0.68615	.	.	ENSG00000164900	ENST00000297537	D	0.91577	-2.87	5.12	3.89	0.44902	.	0.000000	0.56097	U	0.000023	D	0.87386	0.6164	N	0.19112	0.55	0.80722	D	1	D	0.62365	0.991	P	0.55923	0.787	D	0.84395	0.0557	10	0.22706	T	0.39	-25.6995	11.2101	0.48793	0.0:0.0:0.261:0.7389	.	188	Q14549	GBX1_HUMAN	G	188	ENSP00000297537:D188G	ENSP00000297537:D188G	D	-	2	0	GBX1	150477138	1.000000	0.71417	0.960000	0.40013	0.995000	0.86356	2.565000	0.45939	1.943000	0.56356	0.482000	0.46254	GAT		PASS	0.572	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			55	181	55	181	---	---	---	---
ASB10	136371	broad.mit.edu	37	7	150883938	150883938	+	Silent	SNP	G	G	T	rs532203636		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:150883938G>T	ENST00000420175.2	-	1	304	c.280C>A	c.(280-282)Cga>Aga	p.R94R	ASB10_ENST00000275838.1_Silent_p.R94R|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000434669.1_Silent_p.R139R|ASB10_ENST00000422024.1_Silent_p.R139R			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	94			R -> Q (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R94R(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTCCATCGCTCTGGGTCG	0.642																																						uc003wjm.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(415-417)CGA>AGA		ankyrin repeat and SOCS box-containing 10							36.0	38.0	37.0					7																	150883938		2203	4300	6503	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150883938G>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.280C>A	7.37:g.150883938G>T						ASB10_uc003wjl.1_Silent_p.R139R|ASB10_uc003wjn.1_Intron	p.R139R	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	541	-			94					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.415C>A	CCDS47750.2																																																																																				PASS	0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		10	8	10	8	---	---	---	---
ASB10	136371	broad.mit.edu	37	7	150884185	150884185	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:150884185C>G	ENST00000420175.2	-	1	57	c.33G>C	c.(31-33)aaG>aaC	p.K11N	ASB10_ENST00000275838.1_Missense_Mutation_p.K11N|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000434669.1_Missense_Mutation_p.K56N|ASB10_ENST00000422024.1_Missense_Mutation_p.K56N			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	11					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K11N(2)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCCTGCCCCTTGCACTCTT	0.612																																						uc003wjm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(166-168)AAG>AAC		ankyrin repeat and SOCS box-containing 10							28.0	22.0	24.0					7																	150884185		2203	4298	6501	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150884185C>G	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.33G>C	7.37:g.150884185C>G	ENSP00000391137:p.Lys11Asn					ASB10_uc003wjl.1_Missense_Mutation_p.K56N|ASB10_uc003wjn.1_Intron	p.K56N	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	294	-			11					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.168G>C	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791531	0.31685	.	.	ENSG00000146926	ENST00000275838;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T	0.70045	-0.37;-0.43;-0.45;-0.35	4.51	2.64	0.31445	.	.	.	.	.	T	0.44180	0.1281	N	0.08118	0	0.21064	N	0.999794	B;B	0.19817	0.016;0.039	B;B	0.14578	0.011;0.006	T	0.37865	-0.9687	9	0.66056	D	0.02	-3.0316	7.4968	0.27494	0.0:0.7826:0.0:0.2174	.	11;56	Q8WXI3;D5MNW9	ASB10_HUMAN;.	N	11;56;56;11	ENSP00000275838:K11N;ENSP00000401369:K56N;ENSP00000398247:K56N;ENSP00000391137:K11N	ENSP00000275838:K11N	K	-	3	2	ASB10	150515118	0.035000	0.19736	0.997000	0.53966	0.935000	0.57460	0.577000	0.23758	1.009000	0.39289	0.591000	0.81541	AAG		PASS	0.612	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		4	1	4	1	---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151791434	151791434	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:151791434C>T	ENST00000434507.1	+	4	559	c.122C>T	c.(121-123)cCc>cTc	p.P41L	GALNT11_ENST00000415421.1_Missense_Mutation_p.P41L|GALNT11_ENST00000422997.2_Missense_Mutation_p.P41L|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Missense_Mutation_p.P41L|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.P41L			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	41					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P41L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAGAATGTGCCCGTCAAGGGG	0.473																																						uc010lqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)CCC>CTC		N-acetylgalactosaminyltransferase 11							138.0	141.0	140.0					7																	151791434		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791434C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.122C>T	7.37:g.151791434C>T	ENSP00000416787:p.Pro41Leu					GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.P41L|GALNT11_uc003wkv.1_Missense_Mutation_p.P41L|GALNT11_uc011kvn.1_RNA	p.P41L	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	2	352	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	41			Lumenal (Potential).		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.122C>T	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999577	0.93227	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.71	5.71	0.89125	.	.	.	.	.	D	0.95239	0.8456	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.938	D;P	0.65140	0.932;0.495	D	0.92966	0.6393	9	0.22706	T	0.39	.	19.8534	0.96748	0.0:1.0:0.0:0.0	.	41;41	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	L	41	ENSP00000395122:P41L;ENSP00000395020:P41L;ENSP00000414890:P41L;ENSP00000393892:P41L;ENSP00000416787:P41L;ENSP00000410093:P41L;ENSP00000315835:P41L;ENSP00000397581:P41L;ENSP00000412142:P41L;ENSP00000389449:P41L	ENSP00000315835:P41L	P	+	2	0	GALNT11	151422367	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.152000	0.71812	2.711000	0.92665	0.563000	0.77884	CCC		PASS	0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		6	106	6	106	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151851428	151851428	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:151851428C>A	ENST00000262189.6	-	47	12281	c.12063G>T	c.(12061-12063)ctG>ctT	p.L4021L	KMT2C_ENST00000355193.2_Silent_p.L4078L|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4021					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L4021L(1)|p.L4078L(1)									TGACCAATGACAGATCTGGAT	0.488																																						uc003wla.2										N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12061-12063)CTG>CTT		myeloid/lymphoid or mixed-lineage leukemia 3							146.0	143.0	144.0					7																	151851428		2203	4300	6503	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151851428C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12063G>T	7.37:g.151851428C>A						MLL3_uc003wkz.2_Silent_p.L3139L|MLL3_uc003wkx.2_Silent_p.L179L|MLL3_uc003wky.2_Silent_p.L1585L	p.L4021L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	47	12282	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4021					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.12063G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266632	0.23136	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73307	-0.4024	4	.	.	.	.	19.4956	0.95070	0.0:1.0:0.0:0.0	.	.	.	.	F	1582	.	.	V	-	1	0	MLL3	151482361	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	2.252000	0.43196	2.693000	0.91896	0.655000	0.94253	GTC		PASS	0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			34	82	34	82	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151962250	151962250	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:151962250G>A	ENST00000262189.6	-	8	1275	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L353F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	353					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L353F(2)									TGATCTAAGAGGTCTCCCGGG	0.403																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1057-1059)CTC>TTC		myeloid/lymphoid or mixed-lineage leukemia 3							178.0	164.0	169.0					7																	151962250		2203	4296	6499	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962250G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1057C>T	7.37:g.151962250G>A	ENSP00000262189:p.Leu353Phe						p.L353F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1276	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	353			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1057C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.615	1.132408	0.21041	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84944	-1.91;-1.92	4.65	3.77	0.43336	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.37715	U	0.001978	D	0.91710	0.7379	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.91128	0.4935	10	0.40728	T	0.16	.	13.0062	0.58705	0.0789:0.0:0.9211:0.0	.	353	Q8NEZ4	MLL3_HUMAN	F	353	ENSP00000262189:L353F;ENSP00000347325:L353F	ENSP00000262189:L353F	L	-	1	0	MLL3	151593183	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.930000	0.87610	1.072000	0.40860	-0.262000	0.10625	CTC		PASS	0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	202	8	202	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851599	1851599	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:1851599C>A	ENST00000398564.1	+	16	1878	c.1878C>A	c.(1876-1878)aaC>aaA	p.N626K	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.N587K|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.N625K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.N563K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.N601K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.N626K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	626					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N626K(1)|p.N378K(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCCATAAACGAAAGATACC	0.393																																						uc003wpr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1801-1803)AAC>AAA		Rho guanine nucleotide exchange factor 10							89.0	77.0	81.0					8																	1851599		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1851599C>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1878C>A	8.37:g.1851599C>A	ENSP00000381571:p.Asn626Lys					ARHGEF10_uc003wpq.1_Missense_Mutation_p.N625K|ARHGEF10_uc003wps.2_Missense_Mutation_p.N563K|ARHGEF10_uc003wpt.2_Missense_Mutation_p.N477K|ARHGEF10_uc003wpv.2_Missense_Mutation_p.N334K|ARHGEF10_uc010lre.2_Missense_Mutation_p.N281K	p.N601K	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	16	1981	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	626					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1803C>A		.	.	.	.	.	.	.	.	.	.	C	11.68	1.710082	0.30322	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.62788	0.36;0.41;0.36;0.0;0.36;0.35;0.5	5.06	-2.29	0.06805	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.76586	0.4008	M	0.84219	2.685	0.45567	D	0.998513	D;P;D;D	0.89917	1.0;0.627;1.0;0.987	D;P;D;P	0.91635	0.999;0.451;0.999;0.906	T	0.76198	-0.3047	10	0.59425	D	0.04	-52.5622	13.2241	0.59905	0.0:0.2246:0.0:0.7754	.	626;587;563;601	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	K	601;563;625;587;626;626;274	ENSP00000340297:N601K;ENSP00000427909:N563K;ENSP00000431012:N625K;ENSP00000381568:N587K;ENSP00000381571:N626K;ENSP00000262112:N626K;ENSP00000427768:N274K	ENSP00000262112:N626K	N	+	3	2	ARHGEF10	1839006	0.015000	0.18098	0.458000	0.27068	0.168000	0.22595	-1.218000	0.02976	-0.741000	0.04797	-1.301000	0.01330	AAC		PASS	0.393	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				13	47	13	47	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2796240	2796240	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:2796240C>T	ENST00000520002.1	-	71	11120	c.10565G>A	c.(10564-10566)gGc>gAc	p.G3522D	CSMD1_ENST00000542608.1_Missense_Mutation_p.G3344D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3345D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3521D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3522D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3345D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3522						integral component of membrane (GO:0016021)		p.G3521D(1)|p.G3250D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCAGCATAGCCATTGTATTG	0.418																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(10564-10566)GGC>GAC		CUB and Sushi multiple domains 1 precursor							213.0	185.0	194.0					8																	2796240		1905	4109	6014	SO:0001583	missense	64478					integral to membrane		g.chr8:2796240C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10565G>A	8.37:g.2796240C>T	ENSP00000430733:p.Gly3522Asp					CSMD1_uc011kwj.1_Missense_Mutation_p.G2836D|CSMD1_uc010lrg.2_Missense_Mutation_p.G1413D	p.G3522D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	70	10955	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3522			Cytoplasmic (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10565G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.247538|5.247538	0.95305|0.95305	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.39229|.	1.09;1.47;1.49;1.1|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76054|.	0.3934|.	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.996;1.0|.	T|.	0.72683|.	-0.4219|.	10|.	0.87932|.	D|.	0|.	.|.	20.3214|20.3214	0.98679|0.98679	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3522;3522;3344|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	D|X	3345;3522;3383;3521;3344|2923	ENSP00000383047:G3345D;ENSP00000430733:G3522D;ENSP00000441462:G3521D;ENSP00000446243:G3344D|.	ENSP00000320445:G3383D|.	G|W	-|-	2|3	0|0	CSMD1|CSMD1	2783647|2783647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.629000|7.629000	0.83207|0.83207	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	17	7	17	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2965277	2965277	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:2965277C>A	ENST00000520002.1	-	46	7356	c.6801G>T	c.(6799-6801)caG>caT	p.Q2267H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2266H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2267H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2266H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2267H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2267H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2267	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.Q1995H(1)|p.Q2266H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCATTTCTGCCTGTGGAACCG	0.358																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(6799-6801)CAG>CAT		CUB and Sushi multiple domains 1 precursor							148.0	140.0	143.0					8																	2965277		1852	4082	5934	SO:0001583	missense	64478					integral to membrane		g.chr8:2965277C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6801G>T	8.37:g.2965277C>A	ENSP00000430733:p.Gln2267His					CSMD1_uc011kwj.1_Missense_Mutation_p.Q1659H|CSMD1_uc010lrg.2_Missense_Mutation_p.Q335H	p.Q2267H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	45	7191	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2267			Extracellular (Potential).|Sushi 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6801G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.865|1.865	-0.461735|-0.461735	0.04508|0.04508	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09	5.24|5.24	0.0125|0.0125	0.14092|0.14092	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.247264	.|0.34435	.|N	.|0.003966	T|T	0.18964|0.18964	0.0455|0.0455	N|N	0.00926|0.00926	-1.1|-1.1	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.10450	.|0.001;0.003;0.005	T|T	0.02603|0.02603	-1.1135|-1.1135	5|10	.|0.29301	.|T	.|0.29	.|.	0.6922|0.6922	0.00893|0.00893	0.2558:0.2756:0.1134:0.3551|0.2558:0.2756:0.1134:0.3551	.|.	.|2267;2267;2266	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	C|H	1747|2267;2267;2128;2266;2266	.|ENSP00000383047:Q2267H;ENSP00000430733:Q2267H;ENSP00000441462:Q2266H;ENSP00000446243:Q2266H	.|ENSP00000320445:Q2128H	G|Q	-|-	1|3	0|2	CSMD1|CSMD1	2952684|2952684	0.933000|0.933000	0.31639|0.31639	0.037000|0.037000	0.18230|0.18230	0.066000|0.066000	0.16364|0.16364	0.029000|0.029000	0.13666|0.13666	-0.320000|-0.320000	0.08640|0.08640	-0.269000|-0.269000	0.10298|0.10298	GGC|CAG		PASS	0.358	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	53	8	53	---	---	---	---
BLK	640	broad.mit.edu	37	8	11403590	11403590	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:11403590G>T	ENST00000259089.4	+	3	745	c.153G>T	c.(151-153)ccG>ccT	p.P51P	BLK_ENST00000529894.1_5'UTR	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	51					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.P51P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTCCTCCACCGCCCGATGAAC	0.547																																						uc003wty.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(151-153)CCG>CCT		B lymphoid tyrosine kinase							180.0	165.0	170.0					8																	11403590		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11403590G>T	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.153G>T	8.37:g.11403590G>T						BLK_uc003wtz.2_5'UTR	p.P51P	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	3	734	+			51					Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.153G>T	CCDS5982.1																																																																																				PASS	0.547	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			18	117	18	117	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17822100	17822100	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:17822100C>G	ENST00000519253.1	+	18	2929	c.2678C>G	c.(2677-2679)tCt>tGt	p.S893C	PCM1_ENST00000524226.1_Missense_Mutation_p.S894C|PCM1_ENST00000325083.8_Missense_Mutation_p.S893C			Q15154	PCM1_HUMAN	pericentriolar material 1	893					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.S893C(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGGGGAGGGTCTACCCAGTGT	0.443			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(2677-2679)TCT>TGT		pericentriolar material 1							113.0	108.0	110.0					8																	17822100		1923	4144	6067	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17822100C>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2678C>G	8.37:g.17822100C>G	ENSP00000431099:p.Ser893Cys					PCM1_uc011kyh.1_Missense_Mutation_p.S893C|PCM1_uc003wyj.3_Missense_Mutation_p.S894C	p.S893C	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	18	3100	+			893					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2678C>G		.	.	.	.	.	.	.	.	.	.	C	28.7	4.947127	0.92593	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.15139	2.67;2.67;2.45	5.5	5.5	0.81552	.	0.094713	0.85682	D	0.000000	T	0.39886	0.1095	L	0.52364	1.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.994	T	0.08086	-1.0739	10	0.87932	D	0	-15.0534	19.769	0.96353	0.0:1.0:0.0:0.0	.	893;894;893	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	C	893;893;894	ENSP00000327077:S893C;ENSP00000431099:S893C;ENSP00000430521:S894C	ENSP00000327077:S893C	S	+	2	0	PCM1	17866380	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.967000	0.76079	2.754000	0.94517	0.650000	0.86243	TCT		PASS	0.443	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	41	5	41	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19700393	19700393	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:19700393G>T	ENST00000397977.3	+	14	2072	c.1674G>T	c.(1672-1674)aaG>aaT	p.K558N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	558					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.K558N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GTACCAGCAAGGCTATCATGC	0.348																																						uc003wzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1672-1674)AAG>AAT		integrator complex subunit 10							155.0	145.0	148.0					8																	19700393		1876	4122	5998	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19700393G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1674G>T	8.37:g.19700393G>T	ENSP00000381064:p.Lys558Asn						p.K558N	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	14	1805	+			558					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1674G>T	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.980143|1.980143	0.34942|0.34942	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000397977|ENST00000520670	T|.	0.51325|.	0.71|.	5.39|5.39	0.517|0.517	0.17025|0.17025	.|.	0.044668|.	0.85682|.	D|.	0.000000|.	T|T	0.54935|0.54935	0.1889|0.1889	L|L	0.50333|0.50333	1.59|1.59	0.41003|0.41003	D|D	0.984949|0.984949	P|.	0.35908|.	0.527|.	B|.	0.38954|.	0.286|.	T|T	0.47995|0.47995	-0.9073|-0.9073	9|5	.|.	.|.	.|.	-28.8636|-28.8636	8.409|8.409	0.32632|0.32632	0.5825:0.0:0.4174:0.0|0.5825:0.0:0.4174:0.0	.|.	558|.	Q9NVR2|.	INT10_HUMAN|.	N|M	558|48	ENSP00000381064:K558N|.	.|.	K|R	+|+	3|2	2|0	INTS10|INTS10	19744673|19744673	0.999000|0.999000	0.42202|0.42202	0.922000|0.922000	0.36590|0.36590	0.996000|0.996000	0.88848|0.88848	0.688000|0.688000	0.25422|0.25422	0.009000|0.009000	0.14813|0.14813	0.655000|0.655000	0.94253|0.94253	AAG|AGG		PASS	0.348	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		20	53	20	53	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25258515	25258515	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:25258515A>T	ENST00000276440.7	+	47	4903	c.4859A>T	c.(4858-4860)gAg>gTg	p.E1620V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1620	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1620V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGCTGCATGAGCGGTTGTCT	0.483																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4858-4860)GAG>GTG		dedicator of cytokinesis 5							164.0	170.0	168.0					8																	25258515		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25258515A>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4859A>T	8.37:g.25258515A>T	ENSP00000276440:p.Glu1620Val					PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	p.E1620V	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	47	4996	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1620			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4859A>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475229	0.63737	.	.	ENSG00000147459	ENST00000276440	T	0.19806	2.12	5.88	4.71	0.59529	.	0.443737	0.27358	N	0.019724	T	0.35038	0.0918	M	0.84846	2.72	0.39830	D	0.972964	B	0.20261	0.043	B	0.32289	0.143	T	0.23691	-1.0181	10	0.56958	D	0.05	.	13.4518	0.61176	0.8696:0.1304:0.0:0.0	.	1620	Q9H7D0	DOCK5_HUMAN	V	1620	ENSP00000276440:E1620V	ENSP00000276440:E1620V	E	+	2	0	DOCK5	25314432	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	7.496000	0.81526	1.014000	0.39417	0.533000	0.62120	GAG		PASS	0.483	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		13	104	13	104	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30700808	30700808	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:30700808G>C	ENST00000256246.2	-	1	5800	c.5726C>G	c.(5725-5727)tCa>tGa	p.S1909*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1909					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1909*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTCTTTTGTGAGTATTTTTT	0.323																																						uc003xil.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5725-5727)TCA>TGA		testis expressed 15							136.0	128.0	131.0					8																	30700808		2202	4300	6502	SO:0001587	stop_gained	56154							g.chr8:30700808G>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5726C>G	8.37:g.30700808G>C	ENSP00000256246:p.Ser1909*						p.S1909*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5726	-			1909						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.5726C>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	41	8.616105	0.98886	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.82	3.09	0.35607	.	0.613927	0.14635	N	0.307570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9846	0.35986	0.2306:0.0:0.7694:0.0	.	.	.	.	X	1909	.	ENSP00000256246:S1909X	S	-	2	0	TEX15	30820350	0.475000	0.25894	0.077000	0.20336	0.035000	0.12851	1.426000	0.34870	0.825000	0.34637	0.650000	0.86243	TCA		PASS	0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			10	46	10	46	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61693855	61693855	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:61693855G>T	ENST00000423902.2	+	3	2441	c.1962G>T	c.(1960-1962)aaG>aaT	p.K654N	CHD7_ENST00000525508.1_Missense_Mutation_p.K654N|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	654	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K654N(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGACCCGAAGGAACCGAAAG	0.438																																						uc003xue.2																			3	Substitution - Missense(2)|Insertion - In frame(1)	p.556_871dup(1)	lung(3)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1960-1962)AAG>AAT		chromodomain helicase DNA binding protein 7							33.0	35.0	34.0					8																	61693855		1786	4048	5834	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61693855G>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1962G>T	8.37:g.61693855G>T	ENSP00000392028:p.Lys654Asn						p.K654N	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		3	2439	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	654			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1962G>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636876	0.67130	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.82526	-1.62;-1.23	5.32	5.32	0.75619	.	0.000000	0.49916	D	0.000123	D	0.85035	0.5605	L	0.36672	1.1	0.53688	D	0.999973	D	0.57899	0.981	D	0.67231	0.95	T	0.81404	-0.0948	10	0.23302	T	0.38	-25.9937	13.6595	0.62359	0.0743:0.0:0.9257:0.0	.	654	Q9P2D1	CHD7_HUMAN	N	654	ENSP00000392028:K654N;ENSP00000436027:K654N	ENSP00000307304:K654N	K	+	3	2	CHD7	61856409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.940000	0.56599	2.665000	0.90641	0.650000	0.86243	AAG		PASS	0.438	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	20	8	20	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69688635	69688635	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:69688635G>T	ENST00000539993.1	+	11	1697	c.1148G>T	c.(1147-1149)gGa>gTa	p.G383V	C8orf34_ENST00000337103.4_Splice_Site_p.G358V|C8orf34_ENST00000518698.1_Splice_Site_p.G469V|C8orf34_ENST00000325233.3_Splice_Site_p.G127V			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	383								p.G358V(1)|p.G383V(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TACTTCTAGGGAGAAGCCTCC	0.398																																						uc010lyz.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1147-1149)GGA>GTA		hypothetical protein LOC116328							74.0	75.0	75.0					8																	69688635		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69688635G>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1147-1G>T	8.37:g.69688635G>T						C8orf34_uc003xyb.2_Missense_Mutation_p.G358V	p.G383V	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		11	1197	+			383					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1148G>T		.	.	.	.	.	.	.	.	.	.	G	10.28	1.305465	0.23736	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.51071	0.72;0.8;0.79;0.85	5.43	1.74	0.24563	.	0.457119	0.23164	N	0.051215	T	0.42607	0.1210	L	0.34521	1.04	0.52099	D	0.999947	P	0.35894	0.526	P	0.47915	0.561	T	0.13124	-1.0521	9	.	.	.	-6.2138	7.3818	0.26859	0.3372:0.0:0.6628:0.0	.	383	Q49A92	CH034_HUMAN	V	469;383;358;127	ENSP00000427820:G469V;ENSP00000438159:G383V;ENSP00000337174:G358V;ENSP00000319532:G127V	.	G	+	2	0	C8orf34	69851189	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	1.932000	0.40143	0.146000	0.19002	-0.794000	0.03295	GGA		PASS	0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Missense_Mutation	9	50	9	50	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765818	77765818	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:77765818G>C	ENST00000521891.2	+	10	7109	c.6661G>C	c.(6661-6663)Gat>Cat	p.D2221H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2176H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2195H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2176H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2176					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.D2205H(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)			TTACAAATCTGATGCATCATT	0.373										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6526-6528)GAT>CAT		zinc finger homeodomain 4							89.0	85.0	86.0					8																	77765818		1871	4107	5978	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765818G>C		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.6661G>C	8.37:g.77765818G>C	ENSP00000430497:p.Asp2221His	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.D2221H|ZFHX4_uc003yaw.1_Missense_Mutation_p.D2176H	p.D2176H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6913	+			2176					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6526G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672494	0.47781	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51817	0.69;0.74;0.71;0.71	4.05	4.05	0.47172	.	0.000000	0.45867	U	0.000331	T	0.58807	0.2148	L	0.40543	1.245	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.67548	0.896;0.919;0.952	T	0.61618	-0.7026	10	0.51188	T	0.08	.	16.7528	0.85490	0.0:0.0:1.0:0.0	.	2176;2176;2221	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	2221;2205;2176;2176;2195	ENSP00000430497:D2221H;ENSP00000399605:D2176H;ENSP00000050961:D2176H;ENSP00000430848:D2195H	ENSP00000050961:D2176H	D	+	1	0	ZFHX4	77928373	1.000000	0.71417	0.611000	0.29010	0.776000	0.43924	9.522000	0.98032	2.270000	0.75569	0.555000	0.69702	GAT		PASS	0.373	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	47	14	47	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81555340	81555340	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:81555340C>A	ENST00000327835.3	-	8	1288	c.1057G>T	c.(1057-1059)Ggc>Tgc	p.G353C		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	353							metal ion binding (GO:0046872)	p.G353C(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCCTGTGCCCACCGGATGA	0.527																																						uc003yby.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GGC>TGC		zinc finger protein 704							187.0	131.0	150.0					8																	81555340		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81555340C>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1057G>T	8.37:g.81555340C>A	ENSP00000331462:p.Gly353Cys						p.G353C	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		8	1289	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		353					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.1057G>T	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597863	0.66332	.	.	ENSG00000164684	ENST00000327835	T	0.32023	1.47	6.02	5.14	0.70334	.	0.469634	0.25613	N	0.029461	T	0.31513	0.0799	L	0.29908	0.895	0.53688	D	0.99997	D	0.62365	0.991	P	0.51016	0.656	T	0.03157	-1.1066	10	0.38643	T	0.18	-26.2378	12.3604	0.55199	0.0:0.9221:0.0:0.0779	.	353	Q6ZNC4	ZN704_HUMAN	C	353	ENSP00000331462:G353C	ENSP00000331462:G353C	G	-	1	0	ZNF704	81717895	0.478000	0.25917	0.454000	0.27019	0.802000	0.45316	1.376000	0.34306	1.559000	0.49555	-0.145000	0.13849	GGC		PASS	0.527	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		5	22	5	22	---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87423938	87423938	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:87423938C>G	ENST00000517970.1	+	9	1203	c.896C>G	c.(895-897)aCc>aGc	p.T299S	WWP1_ENST00000341922.2_Missense_Mutation_p.T169S|WWP1_ENST00000265428.4_Missense_Mutation_p.T299S|WWP1_ENST00000349423.2_Missense_Mutation_p.T81S	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	299					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T299S(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATTCCTTCTACCAGTGCAGAA	0.393																																						uc003ydt.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)	2						c.(895-897)ACC>AGC		WW domain containing E3 ubiquitin protein ligase							86.0	81.0	83.0					8																	87423938		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423938C>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.896C>G	8.37:g.87423938C>G	ENSP00000427793:p.Thr299Ser					WWP1_uc010mai.2_Missense_Mutation_p.T75S	p.T299S	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			9	1176	+			299					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.896C>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360951	0.05103	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.43688	0.95;0.95;0.96;0.94	5.83	-2.2	0.06994	.	1.484110	0.03739	N	0.254696	T	0.18593	0.0446	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.17137	-1.0379	10	0.06236	T	0.91	.	5.1463	0.14987	0.1164:0.6038:0.0817:0.1981	.	81;299	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	S	299;299;169;81	ENSP00000427793:T299S;ENSP00000265428:T299S;ENSP00000340564:T169S;ENSP00000342665:T81S	ENSP00000265428:T299S	T	+	2	0	WWP1	87493054	0.009000	0.17119	0.000000	0.03702	0.266000	0.26442	0.061000	0.14366	-0.830000	0.04262	-0.182000	0.12963	ACC		PASS	0.393	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		13	28	13	28	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885776	88885776	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:88885776G>A	ENST00000319675.3	-	1	520	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	142								p.L142F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CACAGCAGAAGGTGGGAATCC	0.567																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(424-426)CTT>TTT		WD repeat domain 21C							97.0	92.0	94.0					8																	88885776		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885776G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.424C>T	8.37:g.88885776G>A	ENSP00000316496:p.Leu142Phe						p.L142F	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	521	-			142						Missense_Mutation	SNP	ENST00000319675.3	37	c.424C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401519	0.25291	.	.	ENSG00000176566	ENST00000319675	T	0.72051	-0.62	1.39	-2.79	0.05841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.326922	0.36628	N	0.002491	T	0.50051	0.1593	L	0.29908	0.895	0.20307	N	0.999911	B	0.33512	0.415	B	0.35114	0.196	T	0.44003	-0.9356	10	0.72032	D	0.01	.	3.2715	0.06883	0.0:0.4106:0.2672:0.3222	.	142	Q8NA75	DC4L2_HUMAN	F	142	ENSP00000316496:L142F	ENSP00000316496:L142F	L	-	1	0	DCAF4L2	88954892	1.000000	0.71417	0.051000	0.19133	0.203000	0.24098	1.812000	0.38952	-0.993000	0.03467	-0.499000	0.04595	CTT		PASS	0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		4	50	4	50	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92378817	92378817	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:92378817C>A	ENST00000276609.3	+	14	1737	c.1498C>A	c.(1498-1500)Cag>Aag	p.Q500K	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.Q500K|SLC26A7_ENST00000523719.1_Missense_Mutation_p.Q500K	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.Q500K(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GGAAACCCTGCAGCAGGTGAA	0.318																																						uc003yex.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1498-1500)CAG>AAG		solute carrier family 26, member 7 isoform a							37.0	40.0	39.0					8																	92378817		2202	4298	6500	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378817C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1498C>A	8.37:g.92378817C>A	ENSP00000276609:p.Gln500Lys					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.Q500K|SLC26A7_uc003yfa.2_Missense_Mutation_p.Q500K	p.Q500K	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		15	1776	+			500			STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.1498C>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294859	0.23564	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93712	-3.27;-3.27;-3.27	5.33	4.45	0.53987	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.327983	0.25450	N	0.030589	D	0.87842	0.6279	N	0.25890	0.77	0.27268	N	0.958458	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.78204	-0.2295	10	0.36615	T	0.2	.	12.6126	0.56560	0.1665:0.8335:0.0:0.0	.	500;500	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	K	500	ENSP00000428849:Q500K;ENSP00000276609:Q500K;ENSP00000309504:Q500K	ENSP00000276609:Q500K	Q	+	1	0	SLC26A7	92447993	0.937000	0.31787	0.774000	0.31636	0.997000	0.91878	1.981000	0.40628	1.242000	0.43836	0.655000	0.94253	CAG		PASS	0.318	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			9	17	9	17	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103284843	103284843	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:103284843T>C	ENST00000520539.1	-	48	7493	c.6887A>G	c.(6886-6888)tAt>tGt	p.Y2296C	UBR5_ENST00000220959.4_Missense_Mutation_p.Y2296C|UBR5_ENST00000521922.1_Missense_Mutation_p.Y2290C|UBR5_ENST00000518205.1_Missense_Mutation_p.Y25C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2296					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.Y2296C(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATGGCTGTATAAAAACTTCG	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(6886-6888)TAT>TGT		ubiquitin protein ligase E3 component n-recognin							151.0	136.0	141.0					8																	103284843		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103284843T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6887A>G	8.37:g.103284843T>C	ENSP00000429084:p.Tyr2296Cys					UBR5_uc003yks.1_Missense_Mutation_p.Y2296C	p.Y2296C	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		48	6920	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2296					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6887A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332905	0.81801	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922;ENST00000521566	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.39	5.39	0.77823	HECT (1);	0.135639	0.51477	D	0.000094	T	0.68137	0.2968	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72283	-0.4339	10	0.87932	D	0	.	15.3852	0.74691	0.0:0.0:0.0:1.0	.	2290;2296	E7EMW7;O95071	.;UBR5_HUMAN	C	2296;2296;25;2290;121	ENSP00000429084:Y2296C;ENSP00000220959:Y2296C;ENSP00000428693:Y25C;ENSP00000427819:Y2290C	ENSP00000220959:Y2296C	Y	-	2	0	UBR5	103354019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.040000	0.60383	0.477000	0.44152	TAT		PASS	0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		17	35	17	35	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113569084	113569084	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:113569084C>A	ENST00000297405.5	-	25	4386	c.4142G>T	c.(4141-4143)tGc>tTc	p.C1381F	CSMD3_ENST00000455883.2_Missense_Mutation_p.C1277F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1381F|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1341F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1381	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C1381F(1)|p.C1341F(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						GCCTGGATTGCATCCATAAAT	0.483										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.(4141-4143)TGC>TTC		CUB and Sushi multiple domains 3 isoform 1							111.0	97.0	102.0					8																	113569084		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113569084C>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.4142G>T	8.37:g.113569084C>A	ENSP00000297405:p.Cys1381Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.C653F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1341F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1277F	p.C1381F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4301	-			1381			Extracellular (Potential).|Sushi 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4142G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504255	0.85176	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.11	5.11	0.69529	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	H	0.99516	4.605	0.53688	D	0.999974	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.91635	0.968;0.999;0.953	D	0.96070	0.9045	10	0.87932	D	0	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	1277;1381;1341	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1341;1381;721;1277;1381	ENSP00000345799:C1341F;ENSP00000297405:C1381F;ENSP00000341558:C721F;ENSP00000412263:C1277F;ENSP00000343124:C1381F	ENSP00000297405:C1381F	C	-	2	0	CSMD3	113638260	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.651000	0.83577	2.660000	0.90430	0.655000	0.94253	TGC		PASS	0.483	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		8	43	8	43	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697808	113697808	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:113697808G>C	ENST00000297405.5	-	15	2553	c.2309C>G	c.(2308-2310)tCc>tGc	p.S770C	CSMD3_ENST00000455883.2_Missense_Mutation_p.S666C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S770C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S730C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	770	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S730C(1)|p.S770C(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						ATCAAACTGGGATTCCAGGTC	0.428										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.(2308-2310)TCC>TGC		CUB and Sushi multiple domains 3 isoform 1							101.0	107.0	105.0					8																	113697808		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697808G>C	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.2309C>G	8.37:g.113697808G>C	ENSP00000297405:p.Ser770Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S42C|CSMD3_uc003ynt.2_Missense_Mutation_p.S730C|CSMD3_uc011lhx.1_Missense_Mutation_p.S666C	p.S770C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2468	-			770			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2309C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160719	0.78226	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.96	5.96	0.96718	CUB (5);	0.155053	0.44285	D	0.000464	T	0.14356	0.0347	N	0.04090	-0.28	0.34509	D	0.706911	P;P;D	0.71674	0.886;0.854;0.998	P;P;D	0.76071	0.753;0.811;0.987	T	0.36016	-0.9765	10	0.54805	T	0.06	.	13.5822	0.61909	0.0707:0.0:0.9293:0.0	.	666;770;730	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	730;770;110;666;770	ENSP00000345799:S730C;ENSP00000297405:S770C;ENSP00000341558:S110C;ENSP00000412263:S666C;ENSP00000343124:S770C	ENSP00000297405:S770C	S	-	2	0	CSMD3	113766984	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	TCC		PASS	0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	58	13	58	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114290852	114290852	+	Silent	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:114290852A>G	ENST00000297405.5	-	3	727	c.483T>C	c.(481-483)gtT>gtC	p.V161V	CSMD3_ENST00000455883.2_Silent_p.V161V|CSMD3_ENST00000352409.3_Silent_p.V161V|CSMD3_ENST00000343508.3_Silent_p.V121V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	161	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V121V(1)|p.V161V(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						CATGAGCACTAACTGCAAAAT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(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.(481-483)GTT>GTC		CUB and Sushi multiple domains 3 isoform 1							124.0	107.0	113.0					8																	114290852		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114290852A>G	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.483T>C	8.37:g.114290852A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.V121V|CSMD3_uc011lhx.1_Silent_p.V161V|CSMD3_uc010mcx.1_Silent_p.V161V	p.V161V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	642	-			161			Extracellular (Potential).|CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.483T>C	CCDS6315.1																																																																																				PASS	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	26	15	26	---	---	---	---
PHF20L1	51105	broad.mit.edu	37	8	133856422	133856422	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:133856422G>A	ENST00000395386.2	+	20	3069	c.2770G>A	c.(2770-2772)Gta>Ata	p.V924I	PHF20L1_ENST00000220847.7_Missense_Mutation_p.V311I|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.V899I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	924							zinc ion binding (GO:0008270)	p.V898I(1)|p.V924I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGGGAATACAGTATTTGTTTA	0.408																																						uc003ytt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2770-2772)GTA>ATA		PHD finger protein 20-like 1 isoform 1							107.0	100.0	102.0					8																	133856422		1887	4120	6007	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133856422G>A	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2770G>A	8.37:g.133856422G>A	ENSP00000378784:p.Val924Ile					PHF20L1_uc011lja.1_Missense_Mutation_p.V898I	p.V924I	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		20	3095	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		924					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2770G>A	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436713	0.25900	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.32988	1.44;1.43	5.62	0.434	0.16539	.	0.384147	0.19606	U	0.110268	T	0.19644	0.0472	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.14448	-1.0472	10	0.42905	T	0.14	-30.7341	5.6599	0.17662	0.2015:0.0:0.5627:0.2358	.	899;924	F8W9L8;A8MW92	.;P20L1_HUMAN	I	924;311;899	ENSP00000378784:V924I;ENSP00000378788:V899I	ENSP00000220847:V311I	V	+	1	0	PHF20L1	133925604	0.059000	0.20769	0.002000	0.10522	0.959000	0.62525	1.649000	0.37281	0.126000	0.18424	0.585000	0.79938	GTA		PASS	0.408	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		9	43	9	43	---	---	---	---
WISP1	8840	broad.mit.edu	37	8	134239682	134239682	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:134239682A>T	ENST00000250160.6	+	5	939	c.833A>T	c.(832-834)cAg>cTg	p.Q278L	WISP1_ENST00000220856.6_Missense_Mutation_p.Q191L|WISP1_ENST00000517423.1_Silent_p.P126P|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000519433.1_Missense_Mutation_p.Q33L|WISP1_ENST00000377863.2_Missense_Mutation_p.Q106L	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	278	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Q278L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCTGTGTACCAGCCAGAGGCA	0.537																																						uc003yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(832-834)CAG>CTG		WNT1 inducible signaling pathway protein 1							90.0	83.0	86.0					8																	134239682		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239682A>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.833A>T	8.37:g.134239682A>T	ENSP00000250160:p.Gln278Leu					WISP1_uc003yuc.2_Missense_Mutation_p.Q191L|WISP1_uc010meb.2_Missense_Mutation_p.Q106L|WISP1_uc010mec.2_Silent_p.P126P|WISP1_uc010med.2_Missense_Mutation_p.Q33L|WISP1_uc003yud.2_RNA	p.Q278L	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	909	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		278			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.833A>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725389	0.89298	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	T;D;T;T	0.83419	-1.27;-1.72;-1.44;-1.11	5.63	4.47	0.54385	Cystine knot, C-terminal (2);	0.046597	0.85682	D	0.000000	D	0.82481	0.5046	L	0.55990	1.75	0.45502	D	0.998466	P;P;P;D	0.55172	0.622;0.947;0.89;0.97	B;P;B;P	0.53401	0.275;0.725;0.364;0.725	T	0.83095	-0.0131	10	0.72032	D	0.01	-26.2095	5.3184	0.15868	0.7723:0.0:0.2277:0.0	.	33;106;191;278	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	L	278;33;106;191	ENSP00000250160:Q278L;ENSP00000429185:Q33L;ENSP00000367094:Q106L;ENSP00000220856:Q191L	ENSP00000220856:Q191L	Q	+	2	0	WISP1	134308864	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.352000	0.79404	2.271000	0.75665	0.533000	0.62120	CAG		PASS	0.537	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		16	16	16	16	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139180280	139180280	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:139180280G>A	ENST00000395297.1	-	12	1286	c.1116C>T	c.(1114-1116)caC>caT	p.H372H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	372								p.H372H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGCTGGCTGTGCGTCTGTA	0.592										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(1114-1116)CAC>CAT		hypothetical protein LOC51059							88.0	95.0	92.0					8																	139180280		2103	4227	6330	SO:0001819	synonymous_variant	51059							g.chr8:139180280G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1116C>T	8.37:g.139180280G>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.H273H|FAM135B_uc003yuz.2_RNA	p.H372H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		12	1287	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		372					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1116C>T	CCDS6375.2																																																																																				PASS	0.592	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	65	20	65	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139263259	139263259	+	Splice_Site	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:139263259T>A	ENST00000395297.1	-	6	539		c.e6-2			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B									p.?(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCCTCAACCTAGAAGGCAAG	0.587										HNSCC(54;0.14)																												uc003yuy.2																			2	Unknown(2)		lung(2)	ovary(7)|skin(2)	9						c.e6-1		hypothetical protein LOC51059							79.0	88.0	85.0					8																	139263259		2147	4248	6395	SO:0001630	splice_region_variant	51059							g.chr8:139263259T>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.369-2A>T	8.37:g.139263259T>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Splice_Site_p.Q24_splice|FAM135B_uc003yuz.2_Splice_Site	p.Q123_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	540	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B5MDB3|O95879|Q2WGJ7|Q3KP46	Splice_Site	SNP	ENST00000395297.1	37	c.369_splice	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	25.5	4.642563	0.87859	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.983	0.71324	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM135B	139332441	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.040000	0.89188	2.146000	0.66826	0.533000	0.62120	.		PASS	0.587	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Intron	6	30	6	30	---	---	---	---
MROH1	727957	broad.mit.edu	37	8	145278049	145278049	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr8:145278049C>T	ENST00000528919.1	+	13	1375	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	MROH1_ENST00000326134.5_Silent_p.A418A|MROH1_ENST00000398656.4_Silent_p.A418A|MROH1_ENST00000534366.1_Silent_p.A418A	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	418								p.A418A(1)									GCGCCATGGCCCACCACGGCT	0.642																																						uc003zbk.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1252-1254)GCC>GCT		HEAT repeat containing 7A isoform 1							37.0	43.0	41.0					8																	145278049		2178	4261	6439	SO:0001819	synonymous_variant	727957						binding	g.chr8:145278049C>T		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1254C>T	8.37:g.145278049C>T						HEATR7A_uc011lla.1_Silent_p.A418A|HEATR7A_uc010mft.2_Silent_p.A418A	p.A418A	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN			14	1491	+			418			HEAT 4.		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Silent	SNP	ENST00000528919.1	37	c.1254C>T	CCDS47938.1																																																																																				PASS	0.642	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386183.1	NM_032450		5	7	5	7	---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3898798	3898798	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:3898798G>T	ENST00000324333.10	-	6	1749	c.1556C>A	c.(1555-1557)aCa>aAa	p.T519K	GLIS3_ENST00000381971.3_Missense_Mutation_p.T674K|GLIS3-AS1_ENST00000451340.2_RNA|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	519					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T519K(1)|p.T674K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGGCAATCTGTGAGCAGGTC	0.597																																						uc003zhw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1555-1557)ACA>AAA		GLIS family zinc finger 3 isoform b							63.0	64.0	64.0					9																	3898798		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3898798G>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1556C>A	9.37:g.3898798G>T	ENSP00000325494:p.Thr519Lys					GLIS3_uc003zhx.1_Missense_Mutation_p.T674K|GLIS3_uc010mhf.1_Missense_Mutation_p.T68K|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.T452K|GLIS3_uc003zhz.1_Missense_Mutation_p.T452K|C9orf70_uc003zia.2_RNA	p.T519K	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	6	1750	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	519					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1556C>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602650	0.46423	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.43688	0.94;0.94	5.72	4.75	0.60458	.	0.255560	0.25866	N	0.027798	T	0.21145	0.0509	N	0.19112	0.55	0.24688	N	0.993321	P;B;B;B;P	0.41848	0.763;0.415;0.276;0.397;0.501	B;B;B;B;B	0.32624	0.121;0.104;0.104;0.149;0.039	T	0.11616	-1.0580	10	0.28530	T	0.3	.	7.5712	0.27909	0.0:0.2355:0.5136:0.2509	.	114;187;187;674;519	Q59FQ6;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	K	519;674	ENSP00000325494:T519K;ENSP00000371398:T674K	ENSP00000325494:T519K	T	-	2	0	GLIS3	3888798	0.876000	0.30132	0.845000	0.33349	0.837000	0.47467	1.424000	0.34848	2.695000	0.91970	0.655000	0.94253	ACA		PASS	0.597	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		4	27	4	27	---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15192619	15192619	+	Missense_Mutation	SNP	C	C	A	rs560744000	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:15192619C>A	ENST00000512701.2	-	9	935	c.899G>T	c.(898-900)gGt>gTt	p.G300V	TTC39B_ENST00000380850.4_Missense_Mutation_p.G300V|TTC39B_ENST00000297615.5_Missense_Mutation_p.G231V|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000355694.2_Missense_Mutation_p.G234V|TTC39B_ENST00000507285.1_Missense_Mutation_p.G135V|TTC39B_ENST00000507993.1_Missense_Mutation_p.G135V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	300								p.G234V(1)|p.G300V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAGCTTGACACCCCCTTCAAA	0.408																																						uc003zlr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(700-702)GGT>GTT		tetratricopeptide repeat domain 39B							95.0	95.0	95.0					9																	15192619		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15192619C>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.899G>T	9.37:g.15192619C>A	ENSP00000422496:p.Gly300Val					TTC39B_uc003zlq.1_Missense_Mutation_p.G203V|TTC39B_uc011lmp.1_Missense_Mutation_p.G135V|TTC39B_uc010mie.1_Missense_Mutation_p.G232V|TTC39B_uc011lmq.1_Missense_Mutation_p.G234V|TTC39B_uc011lmr.1_Missense_Mutation_p.G165V|TTC39B_uc010mif.1_Missense_Mutation_p.G234V|TTC39B_uc003zls.1_Missense_Mutation_p.G135V|TTC39B_uc010mig.1_Missense_Mutation_p.G203V|TTC39B_uc011lms.1_RNA	p.G234V	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			9	822	-			234					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.701G>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772585	0.90108	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.85537	0.1213	10	0.66056	D	0.02	-14.6308	19.8379	0.96666	0.0:1.0:0.0:0.0	.	231;300;300;232;234	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	V	300;231;234;300;135;135	ENSP00000370231:G300V;ENSP00000297615:G231V;ENSP00000347920:G234V;ENSP00000422496:G300V;ENSP00000426539:G135V;ENSP00000423392:G135V	ENSP00000297615:G231V	G	-	2	0	TTC39B	15182619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.288000	0.78691	2.765000	0.95021	0.655000	0.94253	GGT		PASS	0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		28	53	28	53	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974677	21974677	+	Splice_Site	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:21974677C>G	ENST00000304494.5	-	1	420	c.150G>C	c.(148-150)caG>caC	p.Q50H	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Splice_Site_p.Q50H|CDKN2A_ENST00000498124.1_Splice_Site_p.Q50H|CDKN2A_ENST00000579122.1_Splice_Site_p.Q50H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTCTACCCACCTGGATCGGCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1342	Whole gene deletion(1316)|Unknown(25)|Deletion - In frame(1)	p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(148-150)CAG>CAC		cyclin-dependent kinase inhibitor 2A isoform 1							90.0	106.0	100.0					9																	21974677		2203	4300	6503	SO:0001630	splice_region_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974677C>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+1G>C	9.37:g.21974677C>G		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Q50H|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.Q50H	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	362	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	50		Q -> R (in CMM2).	ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.150G>C	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966450	0.53507	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.79653	-1.29;-1.29	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.64438	0.2598	N	0.00224	-1.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.69800	-0.5047	9	0.05833	T	0.94	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	50;50	P42771;G3XAG3	CD2A1_HUMAN;.	H	50	ENSP00000307101:Q50H;ENSP00000394932:Q50H	ENSP00000307101:Q50H	Q	-	3	2	CDKN2A	21964677	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	3.896000	0.56266	2.681000	0.91329	0.655000	0.94253	CAG		PASS	0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Missense_Mutation	45	46	45	46	---	---	---	---
C9orf72	203228	broad.mit.edu	37	9	27567113	27567113	+	Silent	SNP	C	C	T	rs138028443		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:27567113C>T	ENST00000380003.3	-	2	69	c.6G>A	c.(4-6)tcG>tcA	p.S2S	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.S2S	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	2					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)	p.S2S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GGCAAAGAGTCGACATCACTG	0.403																																						uc003zqq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4-6)TCG>TCA		hypothetical protein LOC203228 isoform a		T	,	0,4406		0,0,2203	58.0	55.0	56.0		6,6	1.1	1.0	9	dbSNP_134	56	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	C9orf72	NM_018325.2,NM_145005.4	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	2/482,2/223	27567113	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	203228							g.chr9:27567113C>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.6G>A	9.37:g.27567113C>T						C9orf72_uc003zqr.1_Silent_p.S2S	p.S2S	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	103	-		all_neural(11;7.57e-10)	2					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	c.6G>A	CCDS6522.1																																																																																				PASS	0.403	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		14	21	14	21	---	---	---	---
ARID3C	138715	broad.mit.edu	37	9	34623546	34623546	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:34623546G>T	ENST00000378909.2	-	4	833	c.741C>A	c.(739-741)gaC>gaA	p.D247E		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	247	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D247E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCAAGGCTGGGTCCTGAGCGC	0.736																																						uc011lon.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(739-741)GAC>GAA		AT rich interactive domain 3C (BRIGHT- like)							13.0	18.0	16.0					9																	34623546		2162	4235	6397	SO:0001583	missense	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34623546G>T		CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.741C>A	9.37:g.34623546G>T	ENSP00000368189:p.Asp247Glu						p.D247E	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	4	741	-	all_epithelial(49;0.102)		247			Pro-rich.			Missense_Mutation	SNP	ENST00000378909.2	37	c.741C>A	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	G	9.467	1.094721	0.20471	.	.	ENSG00000205143	ENST00000378909	T	0.41065	1.01	4.62	-3.31	0.04988	.	4.039360	0.00725	N	0.000916	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38156	-0.9674	10	0.05959	T	0.93	-0.3936	10.304	0.43670	0.583:0.0:0.417:0.0	.	247	A6NKF2	ARI3C_HUMAN	E	247	ENSP00000368189:D247E	ENSP00000368189:D247E	D	-	3	2	ARID3C	34613546	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.558000	0.23469	-1.310000	0.02312	-0.707000	0.03653	GAC		PASS	0.736	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		6	5	6	5	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36100327	36100327	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:36100327G>T	ENST00000377966.3	+	11	1651		c.e11-1			NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs						blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTCTCTTTAGGCCAACAGAA	0.378																																						uc003zyv.2																			1	Unknown(1)		lung(1)	skin(2)|ovary(1)	3						c.e11-1		RECK protein precursor							43.0	39.0	41.0					9																	36100327		2203	4300	6503	SO:0001630	splice_region_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36100327G>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1086-1G>T	9.37:g.36100327G>T						RECK_uc003zyw.2_Splice_Site_p.R234_splice|RECK_uc003zyx.2_Splice_Site	p.R362_splice	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		11	1172	+								B2RNS1|Q5W0K6|Q8WX37	Splice_Site	SNP	ENST00000377966.3	37	c.1086_splice	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454379	0.84209	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5337	0.84367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RECK	36090327	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.534000	0.98061	2.498000	0.84270	0.655000	0.94253	.		PASS	0.378	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		Intron	4	16	4	16	---	---	---	---
CCIN	881	broad.mit.edu	37	9	36170237	36170237	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:36170237C>A	ENST00000335119.2	+	1	849	c.738C>A	c.(736-738)acC>acA	p.T246T		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	246					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T246T(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGAGAACACCTCATCCCATA	0.507																																						uc003zzb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(736-738)ACC>ACA		calicin							49.0	42.0	44.0					9																	36170237		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170237C>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.738C>A	9.37:g.36170237C>A							p.T246T	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	849	+			246					Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.738C>A	CCDS6599.1																																																																																				PASS	0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		9	24	9	24	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73151786	73151786	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:73151786A>G	ENST00000377110.3	-	25	4450	c.4207T>C	c.(4207-4209)Tat>Cat	p.Y1403H	TRPM3_ENST00000358082.3_Missense_Mutation_p.Y1265H|TRPM3_ENST00000396285.1_Missense_Mutation_p.Y1262H|TRPM3_ENST00000423814.3_Missense_Mutation_p.Y1430H|TRPM3_ENST00000360823.2_Missense_Mutation_p.Y1265H|TRPM3_ENST00000396292.4_Missense_Mutation_p.Y1275H|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Missense_Mutation_p.Y1275H|TRPM3_ENST00000408909.2_Missense_Mutation_p.Y1262H|TRPM3_ENST00000396280.5_Missense_Mutation_p.Y1252H|TRPM3_ENST00000377105.1_Missense_Mutation_p.Y1262H|TRPM3_ENST00000357533.2_Missense_Mutation_p.Y1407H			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1428					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.Y1407H(1)|p.Y1275H(1)|p.Y1403H(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCAGAGACATAGATGTCTATA	0.502																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(4207-4209)TAT>CAT		transient receptor potential cation channel,							108.0	102.0	104.0					9																	73151786		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151786A>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4207T>C	9.37:g.73151786A>G	ENSP00000366314:p.Tyr1403His					TRPM3_uc004ahu.2_Missense_Mutation_p.Y1245H|TRPM3_uc004ahv.2_Missense_Mutation_p.Y1205H|TRPM3_uc004ahw.2_Missense_Mutation_p.Y1275H|TRPM3_uc004ahx.2_Missense_Mutation_p.Y1262H|TRPM3_uc004ahy.2_Missense_Mutation_p.Y1265H|TRPM3_uc004ahz.2_Missense_Mutation_p.Y1252H|TRPM3_uc004aia.2_Missense_Mutation_p.Y1250H|TRPM3_uc004aib.2_Missense_Mutation_p.Y1240H|TRPM3_uc004aic.2_Intron	p.Y1403H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	4451	-			1428			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4207T>C	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.59|17.59	3.427035|3.427035	0.62733|0.62733	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.65549	.|-0.02;-0.14;-0.15;-0.15;-0.03;-0.15;-0.16;-0.14;-0.15;-0.04	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.125660	.|0.56097	.|D	.|0.000032	T|T	0.68238|0.68238	0.2979|0.2979	L|L	0.29908|0.29908	0.895|0.895	0.49798|0.49798	D|D	0.999827|0.999827	.|D;D;D;D;D;D;D	.|0.76494	.|0.999;0.998;0.989;0.998;0.986;0.994;0.998	.|D;D;P;D;P;P;D	.|0.83275	.|0.996;0.935;0.735;0.991;0.864;0.864;0.991	T|T	0.62756|0.62756	-0.6787|-0.6787	5|10	.|0.14656	.|T	.|0.56	-15.8593|-15.8593	16.5446|16.5446	0.84426|0.84426	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1403;1393;1407;1265;1262;1375;1262	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	P|H	1251|1403;1275;1265;1262;1407;1262;1262;1275;1265;1430	.|ENSP00000366314:Y1403H;ENSP00000366310:Y1275H;ENSP00000354066:Y1265H;ENSP00000366309:Y1262H;ENSP00000350140:Y1407H;ENSP00000386127:Y1262H;ENSP00000379581:Y1262H;ENSP00000379587:Y1275H;ENSP00000350791:Y1265H;ENSP00000389542:Y1430H	.|ENSP00000350140:Y1407H	L|Y	-|-	2|1	0|0	TRPM3|TRPM3	72341606|72341606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.730000|8.730000	0.91510|0.91510	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CTA|TAT		PASS	0.502	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		23	33	23	33	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77457212	77457212	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:77457212G>A	ENST00000360774.1	-	4	437	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TRPM6_ENST00000451710.3_Missense_Mutation_p.S67F|TRPM6_ENST00000376871.3_Missense_Mutation_p.S67F|TRPM6_ENST00000376864.4_Missense_Mutation_p.S67F|TRPM6_ENST00000359047.2_Missense_Mutation_p.S67F|TRPM6_ENST00000376872.3_Missense_Mutation_p.S67F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S62F|TRPM6_ENST00000449912.2_Missense_Mutation_p.S62F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	67					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S67F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATGGTCCAGGAATAATCTAT	0.393																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(199-201)TCC>TTC		transient receptor potential cation channel,							170.0	161.0	164.0					9																	77457212		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77457212G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.200C>T	9.37:g.77457212G>A	ENSP00000354006:p.Ser67Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.S62F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S67F|TRPM6_uc010mpd.1_Missense_Mutation_p.S67F|TRPM6_uc010mpe.1_Missense_Mutation_p.S67F|TRPM6_uc004ajn.1_Missense_Mutation_p.S67F	p.S67F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			4	438	-			67			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.200C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868316	0.72065	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;0.22;0.22;-0.34;-0.34;-0.34;0.22	5.35	-0.188	0.13264	.	2.452250	0.01626	N	0.023284	T	0.69628	0.3132	L	0.56199	1.76	0.09310	N	0.999995	B;B;B;P;P;P	0.44195	0.374;0.374;0.141;0.809;0.74;0.828	B;B;B;P;B;P	0.50490	0.203;0.132;0.132;0.642;0.304;0.5	T	0.55153	-0.8185	10	0.87932	D	0	.	4.1846	0.10392	0.0816:0.4448:0.2554:0.2183	.	67;67;67;67;67;62	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	F	67;67;67;67;62;62;66;67;67	ENSP00000354006:S67F;ENSP00000407341:S67F;ENSP00000366068:S67F;ENSP00000366067:S67F;ENSP00000396672:S62F;ENSP00000354962:S62F;ENSP00000366060:S67F;ENSP00000351942:S67F	ENSP00000351942:S67F	S	-	2	0	TRPM6	76647032	0.171000	0.23029	0.071000	0.20095	0.661000	0.39034	1.060000	0.30530	0.286000	0.22352	0.549000	0.68633	TCC		PASS	0.393	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		24	70	24	70	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79322427	79322427	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:79322427G>C	ENST00000376718.3	-	8	4886	c.4763C>G	c.(4762-4764)aCc>aGc	p.T1588S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1229S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1588					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T1588S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCCATCAGTGGTAATTAGTTC	0.408																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4762-4764)ACC>AGC		prune homolog 2							111.0	95.0	100.0					9																	79322427		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322427G>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4763C>G	9.37:g.79322427G>C	ENSP00000365908:p.Thr1588Ser						p.T1588S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	4887	-			1588					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4763C>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.676|2.676	-0.276360|-0.276360	0.05679|0.05679	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.40756|.	1.02;1.02|.	5.91|5.91	4.08|4.08	0.47627|0.47627	.|.	0.794342|.	0.11320|.	N|.	0.576108|.	T|.	0.36413|.	0.0966|.	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	0.999997|0.999997	B|.	0.27229|.	0.172|.	B|.	0.24155|.	0.051|.	T|.	0.22173|.	-1.0224|.	10|.	0.25106|.	T|.	0.35|.	-1.2138|-1.2138	6.9537|6.9537	0.24560|0.24560	0.1489:0.0:0.7024:0.1488|0.1489:0.0:0.7024:0.1488	.|.	1588|.	Q8WUY3|.	PRUN2_HUMAN|.	S|X	1588;1229;1587|909	ENSP00000365908:T1588S;ENSP00000397425:T1229S|.	ENSP00000365908:T1588S|.	T|Y	-|-	2|3	0|2	PRUNE2|PRUNE2	78512247|78512247	0.040000|0.040000	0.19996|0.19996	0.005000|0.005000	0.12908|0.12908	0.867000|0.867000	0.49689|0.49689	2.140000|2.140000	0.42159|0.42159	0.835000|0.835000	0.34877|0.34877	0.655000|0.655000	0.94253|0.94253	ACC|TAC		PASS	0.408	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		16	40	16	40	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79441626	79441626	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:79441626C>G	ENST00000376718.3	-	5	654	c.531G>C	c.(529-531)atG>atC	p.M177I	PRUNE2_ENST00000376713.3_Missense_Mutation_p.M177I|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	177					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.M177I(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCCATGGTCATCCACTTGA	0.418																																						uc010mpk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(529-531)ATG>ATC		prune homolog 2							85.0	86.0	86.0					9																	79441626		2203	4300	6503	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79441626C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.531G>C	9.37:g.79441626C>G	ENSP00000365908:p.Met177Ile					PRUNE2_uc004akn.2_Missense_Mutation_p.M177I	p.M177I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			5	655	-			177					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.531G>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978506	0.34942	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.14516	2.5;2.5	5.67	3.83	0.44106	.	0.222045	0.46758	D	0.000267	T	0.11623	0.0283	L	0.43152	1.355	0.80722	D	1	B;B	0.15141	0.012;0.0	B;B	0.15052	0.012;0.001	T	0.09400	-1.0676	10	0.22109	T	0.4	.	10.2373	0.43290	0.0:0.8481:0.0:0.1519	.	177;177	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	I	177;176;177	ENSP00000365908:M177I;ENSP00000365903:M177I	ENSP00000365903:M177I	M	-	3	0	PRUNE2	78631446	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	2.481000	0.45215	1.412000	0.46977	0.563000	0.77884	ATG		PASS	0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	57	6	57	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79441638	79441638	+	Silent	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:79441638A>G	ENST00000376718.3	-	5	642	c.519T>C	c.(517-519)ctT>ctC	p.L173L	PRUNE2_ENST00000376713.3_Silent_p.L173L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	173					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.L173L(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCACTTGAAAAGAATGCTAC	0.423																																						uc010mpk.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(517-519)CTT>CTC		prune homolog 2							77.0	78.0	78.0					9																	79441638		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79441638A>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.519T>C	9.37:g.79441638A>G						PRUNE2_uc004akn.2_Silent_p.L173L	p.L173L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			5	643	-			173					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.519T>C	CCDS47982.1																																																																																				PASS	0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	55	5	55	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96418814	96418814	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:96418814C>G	ENST00000359246.4	+	9	1451	c.1084C>G	c.(1084-1086)Cag>Gag	p.Q362E	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	362					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.Q362E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAGCCTGACTCAGTTTCCCAA	0.557																																						uc004aub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)CAG>GAG		PHD finger protein 2							132.0	141.0	138.0					9																	96418814		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418814C>G	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1084C>G	9.37:g.96418814C>G	ENSP00000352185:p.Gln362Glu					PHF2_uc011lug.1_Missense_Mutation_p.Q245E	p.Q362E	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1231	+		Myeloproliferative disorder(762;0.0255)	362					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1084C>G	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815792	0.50527	.	.	ENSG00000197724	ENST00000359246	T	0.41065	1.01	4.47	4.47	0.54385	.	0.055765	0.64402	D	0.000001	T	0.36358	0.0964	L	0.50333	1.59	0.80722	D	1	P	0.35124	0.485	B	0.20384	0.029	T	0.44174	-0.9345	10	0.66056	D	0.02	-29.4868	17.3192	0.87232	0.0:1.0:0.0:0.0	.	362	O75151	PHF2_HUMAN	E	362	ENSP00000352185:Q362E	ENSP00000352185:Q362E	Q	+	1	0	PHF2	95458635	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.852000	0.69488	2.300000	0.77407	0.305000	0.20034	CAG		PASS	0.557	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		35	70	35	70	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100119949	100119949	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:100119949C>A	ENST00000357054.1	+	36	4285	c.3350C>A	c.(3349-3351)tCt>tAt	p.S1117Y	CCDC180_ENST00000529487.1_Missense_Mutation_p.S1146Y|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.S1146Y|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1117Y(1)|p.S1146Y(1)									TTAAATTTCTCTCTGCAACAG	0.358																																						uc011lut.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(3853-3855)TCT>TAT		hypothetical protein LOC57653							126.0	138.0	134.0					9																	100119949		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100119949C>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3350C>A	9.37:g.100119949C>A	ENSP00000349562:p.Ser1117Tyr					KIAA1529_uc004axe.1_Missense_Mutation_p.S1117Y|KIAA1529_uc004axg.1_Missense_Mutation_p.S1146Y|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.S302Y	p.S1285Y	NM_020893	NP_065944					37	4627	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.3854C>A		.	.	.	.	.	.	.	.	.	.	C	4.040	0.004970	0.07866	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08984	3.03;3.03;3.03	5.3	0.896	0.19253	.	0.402443	0.29924	N	0.010860	T	0.06234	0.0161	L	0.41236	1.265	0.80722	D	1	B;B	0.30236	0.243;0.274	B;B	0.30316	0.073;0.114	T	0.33854	-0.9852	10	0.51188	T	0.08	-2.6744	3.8658	0.09016	0.1554:0.4552:0.3025:0.0869	.	1285;1117	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	Y	1117;1146;1146	ENSP00000349562:S1117Y;ENSP00000364348:S1146Y;ENSP00000434727:S1146Y	ENSP00000349562:S1117Y	S	+	2	0	C9orf174	99159770	0.994000	0.37717	0.997000	0.53966	0.053000	0.15095	0.116000	0.15561	0.273000	0.22049	-0.150000	0.13652	TCT		PASS	0.358	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		6	112	6	112	---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101518738	101518738	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:101518738T>A	ENST00000353234.4	-	12	2337	c.2290A>T	c.(2290-2292)Agt>Tgt	p.S764C	ANKS6_ENST00000375019.2_Missense_Mutation_p.S463C|ANKS6_ENST00000540940.1_Missense_Mutation_p.S569C|ANKS6_ENST00000375018.1_Missense_Mutation_p.S765C			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	764	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)		p.S764C(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GAGCCCCCACTGCTCTTGGAC	0.602																																						uc004ayu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2290-2292)AGT>TGT		ankyrin repeat and sterile alpha motif domain							87.0	87.0	87.0					9																	101518738		2056	4201	6257	SO:0001583	missense	203286							g.chr9:101518738T>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2290A>T	9.37:g.101518738T>A	ENSP00000297837:p.Ser764Cys					ANKS6_uc004ayt.2_Missense_Mutation_p.S463C|ANKS6_uc004ayv.1_Missense_Mutation_p.S227C|ANKS6_uc004ayw.1_Missense_Mutation_p.S347C|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.S764C	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			12	2311	-		Acute lymphoblastic leukemia(62;0.0527)	764			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2290A>T	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.4|23.4	4.414106|4.414106	0.83449|0.83449	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000444472|ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	.|T;T;T;T	.|0.72051	.|1.58;-0.62;-0.59;1.83	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.039514	.|0.85682	.|D	.|0.000000	T|T	0.79992|0.79992	0.4542|0.4542	M|M	0.63843|0.63843	1.955|1.955	0.50171|0.50171	D|D	0.999857|0.999857	.|D;D	.|0.71674	.|0.998;0.997	.|D;P	.|0.63113	.|0.911;0.817	T|T	0.82297|0.82297	-0.0527|-0.0527	5|10	.|0.87932	.|D	.|0	-16.9964|-16.9964	13.1409|13.1409	0.59434|0.59434	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|765;764	.|Q68DC2-4;Q68DC2	.|.;ANKS6_HUMAN	L|C	233|463;765;764;569	.|ENSP00000364159:S463C;ENSP00000364158:S765C;ENSP00000297837:S764C;ENSP00000442189:S569C	.|ENSP00000297837:S764C	Q|S	-|-	2|1	0|0	ANKS6|ANKS6	100558559|100558559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	7.345000|7.345000	0.79337|0.79337	2.006000|2.006000	0.58801|0.58801	0.397000|0.397000	0.26171|0.26171	CAG|AGT		PASS	0.602	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		13	24	13	24	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767117	105767117	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:105767117G>T	ENST00000374798.3	+	4	391	c.321G>T	c.(319-321)gtG>gtT	p.V107V	CYLC2_ENST00000487798.1_Silent_p.V107V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	107	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.V107V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTGTCGAGGTGGATTCTAAAG	0.363																																						uc004bbs.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(319-321)GTG>GTT		cylicin 2							59.0	58.0	59.0					9																	105767117		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767117G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.321G>T	9.37:g.105767117G>T							p.V107V	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	391	+		all_hematologic(171;0.125)	107			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.321G>T	CCDS35085.1																																																																																				PASS	0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		4	19	4	19	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112918631	112918631	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:112918631C>G	ENST00000259318.7	+	3	2542	c.2335C>G	c.(2335-2337)Ccc>Gcc	p.P779A	AKAP2_ENST00000555236.1_Missense_Mutation_p.P1010A|AKAP2_ENST00000434623.2_Missense_Mutation_p.P868A|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P1010A|AKAP2_ENST00000510514.5_Missense_Mutation_p.P1010A|AKAP2_ENST00000374525.1_Missense_Mutation_p.P868A|AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P1010A	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	779								p.P868A(1)|p.P1010A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCCTCCATCCCCCACCACTGA	0.498																																						uc004bej.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(3028-3030)CCC>GCC		PALM2-AKAP2 protein isoform 1							72.0	79.0	76.0					9																	112918631		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112918631C>G	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2335C>G	9.37:g.112918631C>G	ENSP00000259318:p.Pro779Ala					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.P1010A|AKAP2_uc011lwi.1_Missense_Mutation_p.P868A|AKAP2_uc004bem.2_Missense_Mutation_p.P868A|AKAP2_uc011lwj.1_Missense_Mutation_p.P779A|PALM2-AKAP2_uc004ben.2_Intron	p.P1010A	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN			9	3208	+			779					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3028C>G	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250550	0.80024	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.48	5.48	0.80851	.	0.187468	0.48286	D	0.000185	T	0.50922	0.1644	M	0.63843	1.955	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.995;0.995	D;D;P;P;P	0.85130	0.994;0.997;0.862;0.894;0.894	T	0.48210	-0.9055	10	0.66056	D	0.02	-27.8098	18.7114	0.91658	0.0:1.0:0.0:0.0	.	779;868;869;1010;1010	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	A	1010;1010;1010;1010;868;868;779	ENSP00000363654:P1010A;ENSP00000305861:P1010A;ENSP00000451476:P1010A;ENSP00000421522:P1010A;ENSP00000404782:P868A;ENSP00000363649:P868A;ENSP00000259318:P779A	ENSP00000259318:P779A	P	+	1	0	PALM2-AKAP2;AKAP2	111958452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.422000	0.66453	2.730000	0.93505	0.655000	0.94253	CCC		PASS	0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		8	52	8	52	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117103916	117103916	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:117103916G>T	ENST00000307564.4	-	21	4125	c.3964C>A	c.(3964-3966)Ccc>Acc	p.P1322T	AKNA_ENST00000374079.4_Missense_Mutation_p.P267T|AKNA_ENST00000374088.3_Missense_Mutation_p.P1322T|AKNA_ENST00000223791.3_Missense_Mutation_p.P782T|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P1241T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P1322T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGTCCGGGGGGTGGGCGTGGC	0.637																																						uc004biq.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3964-3966)CCC>ACC		AT-hook transcription factor							59.0	63.0	62.0					9																	117103916		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117103916G>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3964C>A	9.37:g.117103916G>T	ENSP00000303769:p.Pro1322Thr					AKNA_uc004bin.3_Missense_Mutation_p.P569T|AKNA_uc004bio.3_Missense_Mutation_p.P782T|AKNA_uc004bip.3_Missense_Mutation_p.P1241T|AKNA_uc004bir.3_Missense_Mutation_p.P1322T|AKNA_uc004bis.3_Missense_Mutation_p.P1322T|AKNA_uc010mve.2_Missense_Mutation_p.P1203T	p.P1322T	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN			20	4099	-			1322					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.3964C>A	CCDS6805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.75|10.75	1.437256|1.437256	0.25900|0.25900	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.20463	.|2.42;2.07;2.42;2.19;2.41	5.26|5.26	3.4|3.4	0.38934|0.38934	.|.	.|0.450236	.|0.21001	.|N	.|0.081874	T|T	0.19366|0.19366	0.0465|0.0465	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.50272	.|0.89;0.933	.|B;P	.|0.44811	.|0.272;0.461	T|T	0.04347|0.04347	-1.0958|-1.0958	6|10	0.31617|0.44086	T|T	0.26|0.13	-11.4025|-11.4025	12.6632|12.6632	0.56826|0.56826	0.0:0.3161:0.6839:0.0|0.0:0.3161:0.6839:0.0	.|.	.|1322;1241	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	Q|T	332|1322;267;1322;782;1241	.|ENSP00000303769:P1322T;ENSP00000363192:P267T;ENSP00000363201:P1322T;ENSP00000223791:P782T;ENSP00000363188:P1241T	ENSP00000314538:H332Q|ENSP00000223791:P782T	H|P	-|-	3|1	2|0	AKNA|AKNA	116143737|116143737	0.706000|0.706000	0.27856|0.27856	0.053000|0.053000	0.19242|0.19242	0.045000|0.045000	0.14185|0.14185	1.348000|1.348000	0.33987|0.33987	0.695000|0.695000	0.31675|0.31675	-0.150000|-0.150000	0.13652|0.13652	CAC|CCC		PASS	0.637	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		4	23	4	23	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117810681	117810681	+	Silent	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:117810681C>G	ENST00000350763.4	-	16	5121	c.4710G>C	c.(4708-4710)ctG>ctC	p.L1570L	TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Silent_p.L1206L|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1570	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L1570L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGGGGGTCCAGCAGCTTCC	0.512																																						uc004bjj.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(4708-4710)CTG>CTC		tenascin C precursor							73.0	69.0	71.0					9																	117810681		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117810681C>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4710G>C	9.37:g.117810681C>G						TNC_uc010mvf.2_Intron	p.L1570L	NM_002160	NP_002151	P24821	TENA_HUMAN			16	5072	-			1570			Fibronectin type-III 11.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.4710G>C	CCDS6811.1																																																																																				PASS	0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	37	5	37	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	120176822	120176822	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:120176822G>T	ENST00000313400.4	-	1	495	c.395C>A	c.(394-396)gCg>gAg	p.A132E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.A132E|ASTN2_ENST00000361209.2_Missense_Mutation_p.A132E			O75129	ASTN2_HUMAN	astrotactin 2	132					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.A132E(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCCTGCACCGCGATGCGCCC	0.726																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(394-396)GCG>GAG		astrotactin 2 isoform c							36.0	35.0	35.0					9																	120176822		2203	4299	6502	SO:0001583	missense	23245					integral to membrane		g.chr9:120176822G>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.395C>A	9.37:g.120176822G>T	ENSP00000314038:p.Ala132Glu					ASTN2_uc004bjr.1_Missense_Mutation_p.A132E|ASTN2_uc004bjt.1_Missense_Mutation_p.A132E	p.A132E	NM_198187	NP_937830	O75129	ASTN2_HUMAN			1	496	-			132			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.395C>A		.	.	.	.	.	.	.	.	.	.	G	16.10	3.026761	0.54683	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11169	2.84;2.84;2.8	3.13	3.13	0.36017	.	0.406175	0.18974	N	0.126050	T	0.05777	0.0151	N	0.14661	0.345	0.35930	D	0.832475	P;P;B	0.41748	0.761;0.649;0.074	B;B;B	0.35182	0.197;0.141;0.008	T	0.47598	-0.9105	9	.	.	.	-17.8969	12.0492	0.53498	0.0:0.0:1.0:0.0	.	132;132;132	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	E	132	ENSP00000314038:A132E;ENSP00000363108:A132E;ENSP00000354504:A132E	.	A	-	2	0	ASTN2	119216643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.186000	0.50942	1.723000	0.51488	0.455000	0.32223	GCG		PASS	0.726	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		6	7	6	7	---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125613661	125613661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr9:125613661C>A	ENST00000373670.1	-	18	3772	c.3172G>T	c.(3172-3174)Gag>Tag	p.E1058*	RC3H2_ENST00000357244.2_Nonsense_Mutation_p.E1058*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1058					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1058*(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGCTCTAACTCGATATCCCTA	0.393																																						uc010mwc.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)	4						c.(3172-3174)GAG>TAG		ring finger and CCCH-type zinc finger domains 2							115.0	115.0	115.0					9																	125613661		1892	4113	6005	SO:0001587	stop_gained	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613661C>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3172G>T	9.37:g.125613661C>A	ENSP00000362774:p.Glu1058*					uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Nonsense_Mutation_p.E1058*	p.E1058*	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			19	3413	-			1058					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Nonsense_Mutation	SNP	ENST00000373670.1	37	c.3172G>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	43	10.011474	0.99317	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-9.3239	17.3358	0.87280	0.0:1.0:0.0:0.0	.	.	.	.	X	1058	.	ENSP00000349783:E1058X	E	-	1	0	RC3H2	124653482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.316000	0.59178	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		12	31	12	31	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8055717	8055717	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:8055717G>T	ENST00000344293.5	+	6	2798	c.2592G>T	c.(2590-2592)caG>caT	p.Q864H		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	864					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.Q864H(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGGGCAATCAGATCTGGATCT	0.517																																						uc010qbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2590-2592)CAG>CAT		RNA polymerase II transcription factor TAFII140							146.0	151.0	149.0					10																	8055717		1988	4166	6154	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8055717G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2592G>T	10.37:g.8055717G>T	ENSP00000340271:p.Gln864His						p.Q864H	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			6	2592	+			864					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2592G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860948	0.91433	.	.	ENSG00000165632	ENST00000344293	T	0.20069	2.1	5.87	4.96	0.65561	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	T	0.37046	0.0989	M	0.77616	2.38	0.80722	D	1	D	0.53151	0.958	P	0.50791	0.65	T	0.12142	-1.0559	10	0.52906	T	0.07	-23.6067	14.7909	0.69841	0.0689:0.0:0.9311:0.0	.	864	Q5VWG9	TAF3_HUMAN	H	864	ENSP00000340271:Q864H	ENSP00000340271:Q864H	Q	+	3	2	TAF3	8095723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.672000	0.68102	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.517	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		28	41	28	41	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	11997498	11997498	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:11997498T>C	ENST00000356352.2	-	13	3056	c.2583A>G	c.(2581-2583)caA>caG	p.Q861Q	UPF2_ENST00000357604.5_Silent_p.Q861Q|UPF2_ENST00000397053.2_Silent_p.Q861Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	861	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.Q861Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAAATTTAGGTTGATTAACCT	0.343																																						uc001ila.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2581-2583)CAA>CAG		UPF2 regulator of nonsense transcripts homolog							48.0	48.0	48.0					10																	11997498		2203	4300	6503	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11997498T>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2583A>G	10.37:g.11997498T>C						UPF2_uc001ilb.2_Silent_p.Q861Q|UPF2_uc001ilc.2_Silent_p.Q861Q|UPF2_uc009xiz.1_Silent_p.Q861Q	p.Q861Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			13	3057	-		Renal(717;0.228)	861			Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.2583A>G	CCDS7086.1																																																																																				PASS	0.343	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			12	32	12	32	---	---	---	---
RPP38	10557	broad.mit.edu	37	10	15145543	15145543	+	Missense_Mutation	SNP	G	G	T	rs141142473		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:15145543G>T	ENST00000378197.4	+	3	744	c.230G>T	c.(229-231)aGa>aTa	p.R77I	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.R77I	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	77					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)	p.R77I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						AAAGAAAGCAGAGAGAAATGC	0.418																																					GBM(118;1591 1611 9649 34378 50720)	uc001iny.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(229-231)AGA>ATA		ribonuclease P/MRP 38 subunit							51.0	53.0	52.0					10																	15145543		2203	4300	6503	SO:0001583	missense	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145543G>T	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.230G>T	10.37:g.15145543G>T	ENSP00000367439:p.Arg77Ile					RPP38_uc009xjm.2_Missense_Mutation_p.R77I|RPP38_uc001inx.3_Missense_Mutation_p.R77I	p.R77I	NM_183005	NP_892117	P78345	RPP38_HUMAN			3	943	+			77					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.230G>T	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355469	0.11239	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.24350	2.88;2.88;2.88;1.86	4.97	-1.02	0.10135	.	0.712402	0.14232	N	0.332653	T	0.12944	0.0314	L	0.36672	1.1	0.23023	N	0.998419	B	0.34181	0.44	B	0.27262	0.078	T	0.14531	-1.0469	10	0.40728	T	0.16	-1.8582	1.4384	0.02349	0.3475:0.142:0.3673:0.1432	.	77	P78345	RPP38_HUMAN	I	77	ENSP00000367445:R77I;ENSP00000367444:R77I;ENSP00000367439:R77I;ENSP00000402635:R77I	ENSP00000367439:R77I	R	+	2	0	RPP38	15185549	0.328000	0.24687	0.001000	0.08648	0.005000	0.04900	0.814000	0.27239	-0.044000	0.13491	-0.355000	0.07637	AGA		PASS	0.418	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		5	9	5	9	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21115440	21115440	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:21115440C>T	ENST00000377122.4	-	18	2201	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	602					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.G602D(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACTGCAGTGCCAGCTCCCAC	0.343																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1804-1806)GGC>GAC		nebulette sarcomeric isoform							144.0	155.0	151.0					10																	21115440		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21115440C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1805G>A	10.37:g.21115440C>T	ENSP00000366326:p.Gly602Asp					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.G602D	NM_006393	NP_006384	O76041	NEBL_HUMAN			18	2202	-			602			Nebulin 17.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1805G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584229	0.65992	.	.	ENSG00000078114	ENST00000377122	T	0.05649	3.41	6.06	6.06	0.98353	.	0.110333	0.64402	D	0.000009	T	0.29556	0.0737	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00150	-1.1986	10	0.37606	T	0.19	.	20.2233	0.98332	0.0:1.0:0.0:0.0	.	602	O76041	NEBL_HUMAN	D	602	ENSP00000366326:G602D	ENSP00000366326:G602D	G	-	2	0	NEBL	21155446	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	4.525000	0.60559	2.871000	0.98454	0.655000	0.94253	GGC		PASS	0.343	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		32	42	32	42	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27306604	27306604	+	Nonsense_Mutation	SNP	C	C	A	rs539628999		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:27306604C>A	ENST00000376087.4	-	30	4498	c.4333G>T	c.(4333-4335)Gaa>Taa	p.E1445*	ANKRD26_ENST00000436985.2_Nonsense_Mutation_p.E1461*|ANKRD26_ENST00000376070.3_Nonsense_Mutation_p.E1002*	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1444					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E1445*(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTAGTTTTTCACATTTCTTT	0.343																																						uc001ith.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4330-4332)GAA>TAA		ankyrin repeat domain 26							85.0	76.0	79.0					10																	27306604		1800	4069	5869	SO:0001587	stop_gained	22852					centrosome		g.chr10:27306604C>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4333G>T	10.37:g.27306604C>A	ENSP00000365255:p.Glu1445*					ANKRD26_uc001itg.2_Nonsense_Mutation_p.E1131*|ANKRD26_uc009xku.1_Nonsense_Mutation_p.E1445*	p.E1444*	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			30	4502	-			1444			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonsense_Mutation	SNP	ENST00000376087.4	37	c.4330G>T	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	41	8.861654	0.98982	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	4.82	3.91	0.45181	.	0.224072	0.28470	N	0.015237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	11.1586	0.48501	0.0:0.9081:0.0:0.0919	.	.	.	.	X	1002;1445;1461	.	ENSP00000365238:E1002X	E	-	1	0	ANKRD26	27346610	1.000000	0.71417	0.016000	0.15963	0.009000	0.06853	5.973000	0.70456	1.165000	0.42670	-0.391000	0.06502	GAA		PASS	0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			20	16	20	16	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31809581	31809581	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:31809581G>A	ENST00000320985.10	+	7	1428	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZEB1_ENST00000361642.5_Missense_Mutation_p.E441K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E373K|ZEB1_ENST00000446923.2_Missense_Mutation_p.E424K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E420K|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	440					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E440K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGCATCCAAAGAACAAGAAAC	0.368																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(1318-1320)GAA>AAA		zinc finger E-box binding homeobox 1 isoform b							80.0	76.0	78.0					10																	31809581		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809581G>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1318G>A	10.37:g.31809581G>A	ENSP00000319248:p.Glu440Lys					ZEB1_uc001ivr.3_Missense_Mutation_p.E222K|ZEB1_uc010qee.1_Missense_Mutation_p.E222K|ZEB1_uc010qef.1_Missense_Mutation_p.E222K|ZEB1_uc009xlj.1_Missense_Mutation_p.E366K|ZEB1_uc010qeg.1_Missense_Mutation_p.E299K|ZEB1_uc009xlk.1_Missense_Mutation_p.E222K|ZEB1_uc001ivt.3_Missense_Mutation_p.E222K|ZEB1_uc001ivu.3_Missense_Mutation_p.E441K|ZEB1_uc001ivv.3_Missense_Mutation_p.E420K|ZEB1_uc010qeh.1_Missense_Mutation_p.E373K|ZEB1_uc009xlo.1_Missense_Mutation_p.E423K|ZEB1_uc009xlp.2_Missense_Mutation_p.E424K	p.E440K	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1381	+		Prostate(175;0.0156)	440					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1318G>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912452	0.33721	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.87	5.87	0.94306	.	0.090025	0.48286	D	0.000200	T	0.61813	0.2377	L	0.35414	1.06	0.58432	D	0.999996	B;P;B;B;B;B;P;B	0.36616	0.007;0.554;0.038;0.047;0.418;0.004;0.561;0.047	B;B;B;B;B;B;B;B	0.33521	0.011;0.165;0.01;0.014;0.079;0.005;0.157;0.014	T	0.57248	-0.7844	10	0.20046	T	0.44	-25.4985	20.5827	0.99408	0.0:0.0:1.0:0.0	.	373;440;424;440;440;420;441;440	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	K	222;440;441;440;373;440;420;299;331;424	ENSP00000444282:E222K;ENSP00000354487:E441K;ENSP00000444891:E373K;ENSP00000319248:E440K;ENSP00000391612:E424K	ENSP00000319248:E440K	E	+	1	0	ZEB1	31849587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.948000	0.93006	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.368	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		15	13	15	13	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508167	37508167	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:37508167C>G	ENST00000602533.1	+	34	3458	c.3359C>G	c.(3358-3360)aCa>aGa	p.T1120R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1120R|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T1239R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1176					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1120R(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTGAGAACACAATGCTCACT	0.383																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3358-3360)ACA>AGA		ankyrin repeat domain 30A							107.0	107.0	107.0					10																	37508167		1848	4084	5932	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508167C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3359C>G	10.37:g.37508167C>G	ENSP00000473551:p.Thr1120Arg						p.T1120R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3458	+			1176			Potential.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3359C>G		.	.	.	.	.	.	.	.	.	.	c	7.559	0.664275	0.14710	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.18338	2.22;2.22	2.81	1.8	0.24995	.	.	.	.	.	T	0.30386	0.0763	M	0.76574	2.34	0.24440	N	0.994538	D	0.54964	0.969	P	0.53760	0.734	T	0.07868	-1.0750	9	0.87932	D	0	.	8.6386	0.33964	0.2269:0.7731:0.0:0.0	.	1176	Q9BXX3	AN30A_HUMAN	R	1120;1239	ENSP00000354432:T1120R;ENSP00000363792:T1239R	ENSP00000354432:T1120R	T	+	2	0	ANKRD30A	37548173	0.988000	0.35896	0.064000	0.19789	0.021000	0.10359	3.069000	0.50026	1.402000	0.46780	0.465000	0.42564	ACA		PASS	0.383	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		45	79	45	79	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48413941	48413941	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:48413941A>T	ENST00000249598.1	-	2	1086	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	309					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A309A(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCGACCCCGCAGCCACGTGGC	0.612																																						uc001jfa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(925-927)GCT>GCA		growth differentiation factor 2 precursor							66.0	59.0	61.0					10																	48413941		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413941A>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.927T>A	10.37:g.48413941A>T							p.A309A	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	1090	-			309					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.927T>A	CCDS7219.1																																																																																				PASS	0.612	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		11	12	11	12	---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49628312	49628313	+	Missense_Mutation	DNP	CG	CG	TT	rs202013888		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:49628312_49628313CG>TT	ENST00000374189.1	+	6	746_747	c.565_566CG>TT	c.(565-567)CGc>TTc	p.R189F	MAPK8_ENST00000374182.3_Missense_Mutation_p.R189F|MAPK8_ENST00000360332.3_Missense_Mutation_p.R189F|MAPK8_ENST00000374174.1_Missense_Mutation_p.R189F|MAPK8_ENST00000395611.3_Missense_Mutation_p.R189F			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.R189C(2)|p.R189H(2)|p.R189L(2)|p.R189S(2)|p.R189F(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGTAGTGACTCGCTACTACAGA	0.406																																						uc009xnz.2																			10	Substitution - Missense(10)		lung(8)|endometrium(2)	central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(565-567)CGC>TGC|c.(565-567)CGC>CTC		mitogen-activated protein kinase 8 isoform JNK1																																				SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49628312C>T|g.chr10:49628313G>T	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	Exception_encountered	10.37:g.49628312_49628313delinsTT	ENSP00000363304:p.Arg189Phe					MAPK8_uc001jgl.2_Missense_Mutation_p.R189C|MAPK8_uc001jgm.2_Missense_Mutation_p.R189C|MAPK8_uc001jgo.2_Missense_Mutation_p.R189C|MAPK8_uc009xoa.2_Missense_Mutation_p.R189C|MAPK8_uc001jgn.2_Missense_Mutation_p.R189C|MAPK8_uc010qgk.1_Missense_Mutation_p.R189C|MAPK8_uc001jgp.2_Missense_Mutation_p.R189C|MAPK8_uc001jgq.2_Missense_Mutation_p.R189C|MAPK8_uc001jgl.2_Missense_Mutation_p.R189L|MAPK8_uc001jgm.2_Missense_Mutation_p.R189L|MAPK8_uc001jgo.2_Missense_Mutation_p.R189L|MAPK8_uc009xoa.2_Missense_Mutation_p.R189L|MAPK8_uc001jgn.2_Missense_Mutation_p.R189L|MAPK8_uc010qgk.1_Missense_Mutation_p.R189L|MAPK8_uc001jgp.2_Missense_Mutation_p.R189L|MAPK8_uc001jgq.2_Missense_Mutation_p.R189L	p.R189C|p.R189L	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	6	789|790	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	189			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.565C>T|c.566G>T	CCDS7224.1																																																																																				PASS	0.406	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			22	35	22	35	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50530641	50530641	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:50530641C>G	ENST00000374144.3	+	3	339	c.51C>G	c.(49-51)agC>agG	p.S17R	C10orf71_ENST00000323868.4_Missense_Mutation_p.S17R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	17								p.S17R(2)		endometrium(1)	1						ACTCCTCCAGCATCGGCAGCG	0.552																																						uc010qgp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(49-51)AGC>AGG		hypothetical protein LOC118461 isoform 2							37.0	40.0	39.0					10																	50530641		2155	4260	6415	SO:0001583	missense	118461							g.chr10:50530641C>G	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.51C>G	10.37:g.50530641C>G	ENSP00000363259:p.Ser17Arg						p.S17R	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	390	+			17					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.51C>G	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174071	0.57692	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.33216	1.42;2.48	5.13	3.24	0.37175	.	0.000000	0.64402	D	0.000009	T	0.49218	0.1544	M	0.68952	2.095	0.38285	D	0.942543	D	0.89917	1.0	D	0.87578	0.998	T	0.54906	-0.8223	10	0.87932	D	0	.	8.7321	0.34505	0.0:0.6835:0.0:0.3165	.	17	Q711Q0-3	.	R	17	ENSP00000318713:S17R;ENSP00000363259:S17R	ENSP00000318713:S17R	S	+	3	2	C10orf71	50200647	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.175000	0.31944	1.154000	0.42482	0.557000	0.71058	AGC		PASS	0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		6	15	6	15	---	---	---	---
AGAP7P	653268	broad.mit.edu	37	10	51465367	51465367	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:51465367G>C	ENST00000374095.5	-	7	1214	c.1089C>G	c.(1087-1089)atC>atG	p.I363M		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		363	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.I363M(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TGAGCTTGGGGATGGTGGTGC	0.517																																						uc001jio.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)ATC>ATG		ArfGAP with GTPase domain, ankyrin repeat and PH							69.0	84.0	79.0					10																	51465367		2200	4281	6481	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465367G>C																												ENST00000374095.5:c.1089C>G	10.37:g.51465367G>C	ENSP00000363208:p.Ile363Met					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron	p.I363M	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			7	1215	-			363			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1089C>G	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	3.878	-0.026510	0.07589	.	.	ENSG00000204169	ENST00000374095	T	0.52983	0.64	.	.	.	Pleckstrin homology domain (3);	0.198180	0.52532	D	0.000079	T	0.37183	0.0994	L	0.29908	0.895	0.21256	N	0.999749	P	0.37176	0.586	P	0.46419	0.516	T	0.23868	-1.0176	9	0.66056	D	0.02	.	2.6662	0.05051	0.4759:0.0:0.524:0.0	.	363	Q5VUJ5	AGAP7_HUMAN	M	363	ENSP00000363208:I363M	ENSP00000363208:I363M	I	-	3	3	AGAP7	51135373	1.000000	0.71417	0.035000	0.18076	0.035000	0.12851	2.087000	0.41653	0.172000	0.19760	0.175000	0.17021	ATC		PASS	0.517	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			4	96	4	96	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75290488	75290488	+	Missense_Mutation	SNP	G	G	A	rs374804749		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:75290488G>A	ENST00000339859.4	-	12	1521	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.P474L|USP54_ENST00000319786.7_Missense_Mutation_p.P474L|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.P324L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	474					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.P474L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CGAGGCCTGGGGCTCATCGCC	0.502																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(2)|kidney(1)	6						c.(1420-1422)CCC>CTC		ubiquitin specific peptidase 54							133.0	137.0	136.0					10																	75290488		1971	4156	6127	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75290488G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1421C>T	10.37:g.75290488G>A	ENSP00000345216:p.Pro474Leu					USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.P474L|USP54_uc010qkl.1_Missense_Mutation_p.P474L	p.P474L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			11	1438	-	Prostate(51;0.0112)		474					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.1421C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480617	0.63849	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.23552	1.91;1.91;1.9	5.96	3.08	0.35506	.	0.458722	0.19124	U	0.122084	T	0.21427	0.0516	L	0.47716	1.5	0.37258	D	0.906864	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.14578	0.001;0.011;0.005	T	0.07139	-1.0788	10	0.33940	T	0.23	0.0038	8.8806	0.35372	0.1283:0.0:0.7491:0.1226	.	474;474;474	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	L	474;474;324;474	ENSP00000345216:P474L;ENSP00000386080:P474L;ENSP00000408714:P324L	ENSP00000326547:P474L	P	-	2	0	USP54	74960494	0.998000	0.40836	0.459000	0.27081	0.973000	0.67179	2.976000	0.49289	0.405000	0.25532	0.655000	0.94253	CCC		PASS	0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		9	31	9	31	---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85992438	85992438	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:85992438C>A	ENST00000372105.3	-	4	1138	c.1117G>T	c.(1117-1119)Gct>Tct	p.A373S		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	373						integral component of endoplasmic reticulum membrane (GO:0030176)		p.A373S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TTGTTGTAAGCAGCAGCTTCC	0.587																																						uc001kcz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GCT>TCT		retina specific protein PAL							69.0	51.0	57.0					10																	85992438		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85992438C>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1117G>T	10.37:g.85992438C>A	ENSP00000361177:p.Ala373Ser						p.A373S	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1139	-			373			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1117G>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941508	0.34283	.	.	ENSG00000148602	ENST00000372105	T	0.35789	1.29	5.8	4.84	0.62591	.	0.156037	0.56097	D	0.000022	T	0.24236	0.0587	L	0.34521	1.04	0.39535	D	0.968736	P	0.36874	0.572	B	0.31101	0.124	T	0.06320	-1.0833	10	0.13853	T	0.58	.	14.6016	0.68445	0.1466:0.8533:0.0:0.0	.	373	Q9P2V4	LRIT1_HUMAN	S	373	ENSP00000361177:A373S	ENSP00000361177:A373S	A	-	1	0	LRIT1	85982418	0.968000	0.33430	0.051000	0.19133	0.033000	0.12548	2.882000	0.48546	2.749000	0.94314	0.655000	0.94253	GCT		PASS	0.587	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		3	7	3	7	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91405006	91405006	+	Silent	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:91405006C>G	ENST00000307534.4	-	1	209	c.54G>C	c.(52-54)gcG>gcC	p.A18A	RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000371774.2_5'Flank|PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|RP11-80H5.6_ENST00000428166.1_lincRNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	18					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.A18A(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GACTGGTCCCCGCCACTGAGC	0.692																																						uc001kgp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(52-54)GCG>GCC		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						15.0	17.0	16.0					10																	91405006		1852	3787	5639	SO:0001819	synonymous_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91405006C>G	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.54G>C	10.37:g.91405006C>G						PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank	p.A18A	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			1	210	-			18					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	c.54G>C	CCDS31244.1																																																																																				PASS	0.692	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	4	4	4	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104854165	104854165	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:104854165C>A	ENST00000404739.3	-	11	884	c.861G>T	c.(859-861)ttG>ttT	p.L287F	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000343289.5_Missense_Mutation_p.L287F|NT5C2_ENST00000423468.2_Missense_Mutation_p.L258F			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	287					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.L287F(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GTGCATCCACCAAGATCAAGT	0.473																																						uc001kwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)TTG>TTT		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						128.0	105.0	113.0					10																	104854165		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104854165C>A	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.861G>T	10.37:g.104854165C>A	ENSP00000383960:p.Leu287Phe					NT5C2_uc010qqp.1_Missense_Mutation_p.L258F|NT5C2_uc001kwq.2_Missense_Mutation_p.L287F|NT5C2_uc001kwp.2_Missense_Mutation_p.L134F	p.L287F	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	13	1047	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	287					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.861G>T	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517958	0.44763	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468	T;T;T	0.23348	1.91;1.91;1.91	5.2	3.23	0.37069	HAD-like domain (1);	0.062767	0.64402	D	0.000006	T	0.28466	0.0704	L	0.37630	1.12	0.53005	D	0.999963	P;D;P	0.58970	0.95;0.984;0.95	P;P;P	0.55391	0.602;0.775;0.676	T	0.02958	-1.1089	10	0.59425	D	0.04	-14.9928	6.1976	0.20557	0.2237:0.6252:0.0:0.1511	.	258;134;287	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	F	287;287;258	ENSP00000339479:L287F;ENSP00000383960:L287F;ENSP00000392236:L258F	ENSP00000339479:L287F	L	-	3	2	NT5C2	104844155	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.566000	0.23593	1.569000	0.49696	0.555000	0.69702	TTG		PASS	0.473	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		4	27	4	27	---	---	---	---
GPAM	57678	broad.mit.edu	37	10	113924340	113924340	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:113924340G>A	ENST00000348367.4	-	13	1447	c.1250C>T	c.(1249-1251)cCg>cTg	p.P417L	GPAM_ENST00000369425.1_Missense_Mutation_p.P417L|GPAM_ENST00000423155.1_Missense_Mutation_p.P417L			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	417					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.P417L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AGCAGACACCGGTTTCTGACT	0.368																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1249-1251)CCG>CTG		mitochondrial glycerol 3-phosphate							67.0	70.0	69.0					10																	113924340		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113924340G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1250C>T	10.37:g.113924340G>A	ENSP00000265276:p.Pro417Leu					GPAM_uc001kzp.2_Missense_Mutation_p.P417L|GPAM_uc001kzq.1_Missense_Mutation_p.P417L	p.P417L	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	13	1448	-			417					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1250C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990400	0.35131	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69306	-0.39;-0.39;-0.39	5.25	4.31	0.51392	.	0.188167	0.48767	D	0.000177	T	0.45696	0.1355	L	0.34521	1.04	0.50039	D	0.999849	P;P	0.41131	0.739;0.524	B;B	0.25614	0.062;0.043	T	0.42732	-0.9434	10	0.11182	T	0.66	-15.8771	13.1613	0.59547	0.0:0.0:0.84:0.16	.	417;417	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	L	417	ENSP00000265276:P417L;ENSP00000409242:P417L;ENSP00000358433:P417L	ENSP00000265276:P417L	P	-	2	0	GPAM	113914330	1.000000	0.71417	0.884000	0.34674	0.674000	0.39518	5.342000	0.65970	1.122000	0.41944	0.643000	0.83706	CCG		PASS	0.368	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		13	25	13	25	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115348836	115348836	+	3'UTR	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:115348836C>G	ENST00000351270.3	+	0	2487				NRAP_ENST00000369360.3_Silent_p.R1670R|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000359988.3_Silent_p.R1697R|NRAP_ENST00000360478.3_Silent_p.R1662R|NRAP_ENST00000369358.4_Silent_p.R1705R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.R1697R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CTTCTGCCCCCCGCTGCTGAA	0.562																																						uc001laj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(5089-5091)CGG>CGC		nebulin-related anchoring protein isoform S							80.0	79.0	79.0					10																	115348836		2203	4300	6503	SO:0001624	3_prime_UTR_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115348836C>G		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*708C>G	10.37:g.115348836C>G						HABP2_uc001lai.3_3'UTR|NRAP_uc009xyb.2_Silent_p.R450R|NRAP_uc001lak.2_Silent_p.R1662R|NRAP_uc001lal.3_Silent_p.R1698R	p.R1697R	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	42	5255	-		Colorectal(252;0.0233)|Breast(234;0.188)	1697	R -> Q (in Ref. 3; CAD89899).				A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	ENST00000351270.3	37	c.5091G>C	CCDS7577.1																																																																																				PASS	0.562	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		12	14	12	14	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127685989	127685989	+	Splice_Site	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:127685989G>A	ENST00000368693.1	+	6	578	c.474G>A	c.(472-474)agG>agA	p.R158R	FANK1_ENST00000368695.1_Splice_Site_p.R152R			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	158						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R158R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TTTCCTTTAGGCTTGTGAAAA	0.408																																						uc001ljh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)AGG>AGA		fibronectin type III and ankyrin repeat domains							218.0	196.0	203.0					10																	127685989		2203	4300	6503	SO:0001630	splice_region_variant	92565					cytoplasm|nucleus		g.chr10:127685989G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.474-1G>A	10.37:g.127685989G>A						FANK1_uc009yan.2_Silent_p.R184R|FANK1_uc001lji.2_Silent_p.R152R	p.R158R	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			6	578	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	158			ANK 2.		Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.474G>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009214	0.35415	.	.	ENSG00000203780	ENST00000456942	.	.	.	5.23	2.08	0.27032	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42361	-0.9456	4	.	.	.	.	5.1838	0.15174	0.2384:0.173:0.5886:0.0	.	.	.	.	D	53	.	.	G	+	2	0	FANK1	127675979	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	0.241000	0.18065	0.740000	0.32651	0.655000	0.94253	GGC		PASS	0.408	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	Silent	12	26	12	26	---	---	---	---
PPP2R2D	55844	broad.mit.edu	37	10	133769242	133769242	+	3'UTR	SNP	G	G	T	rs181341303		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr10:133769242G>T	ENST00000470416.1	+	0	627				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.T152T(1)|p.T348T(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ATAGAGACACGCGGAGGGATG	0.582																																						uc001lks.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1036-1038)ACG>ACT		protein phosphatase 2, regulatory subunit B,							50.0	55.0	54.0					10																	133769242		2087	4227	6314	SO:0001624	3_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769242G>T	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*624G>T	10.37:g.133769242G>T						PPP2R2D_uc001lkr.2_Silent_p.T152T|PPP2R2D_uc001lkt.2_Silent_p.T152T|PPP2R2D_uc009yay.2_Silent_p.T214T	p.T346T	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	7	1281	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	379			WD 6.		A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000470416.1	37	c.1038G>T																																																																																					PASS	0.582	PPP2R2D-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000051038.1	NM_018461		4	16	4	16	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267049	1267049	+	Missense_Mutation	SNP	C	C	T	rs199518432	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:1267049C>T	ENST00000529681.1	+	31	8997	c.8939C>T	c.(8938-8940)aCg>aTg	p.T2980M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2983M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2980	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2959M(2)|p.T2980M(2)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.617													-|||	3	0.000599042	0.0008	0.0014	5008	,	,		16919	0.0		0.001	False		,,,				2504	0.0					uc009ycr.1																			4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(10687-10689)ACG>ATG		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;			MET/THR	3,4113		0,3,2055	104.0	130.0	122.0		8939	0.5	0.0	11		122	8,8352		0,8,4172	no	missense	MUC5B	NM_002458.2	81	0,11,6227	TT,TC,CC		0.0957,0.0729,0.0882	probably-damaging	2980/5763	1267049	11,12465	2058	4180	6238	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267049C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8939C>T	11.37:g.1267049C>T	ENSP00000436812:p.Thr2980Met					MUC5B_uc001ltb.2_Missense_Mutation_p.T2983M	p.T3563M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	10814	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2980	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10688C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	0.736	-0.778048	0.02929	7.29E-4	9.57E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22945	1.93;2.12	1.42	0.481	0.16809	.	.	.	.	.	T	0.14270	0.0345	L	0.36672	1.1	0.09310	N	1	D;D	0.54772	0.968;0.968	B;B	0.35039	0.194;0.194	T	0.19160	-1.0314	9	0.87932	D	0	.	4.9544	0.14031	0.3552:0.6448:0.0:0.0	.	3563;2983	A7Y9J9;E9PBJ0	.;.	M	2980;2983;2952;2940	ENSP00000436812:T2980M;ENSP00000415793:T2983M	ENSP00000343037:T2952M	T	+	2	0	MUC5B	1223625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.100000	0.15231	0.200000	0.20447	-0.780000	0.03373	ACG		PASS	0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	100	11	100	---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2167579	2167580	+	Intron	DNP	CC	CC	AA	rs377373434		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:2167579_2167580CC>AA	ENST00000300632.5	-	2	720				INS-IGF2_ENST00000481781.1_5'Flank|IGF2-AS_ENST00000381363.4_RNA|IGF2-AS_ENST00000381361.3_RNA|IGF2-AS_ENST00000445504.2_RNA	NM_001007139.4	NP_001007140.2	P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)	p.P137H(1)|p.P137T(1)		central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCGTCACCCCCTGCAGGGCGC	0.678																																						uc010qxi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(409-411)CCT>ACT|c.(409-411)CCT>CAT		RecName: Full=Putative insulin-like growth factor 2 antisense gene protein;          Short=IGF2-AS; AltName: Full=PEG8/IGF2AS protein;																																				SO:0001627	intron_variant	51214							g.chr11:2167579C>A|g.chr11:2167580C>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000300632.5:c.1_1delinsAA	11.37:g.2167579_2167580delinsAA						IGF2_uc001lvh.2_Intron|INS-IGF2_uc001lvi.2_Intron|IGF2AS_uc001lvk.1_RNA|IGF2AS_uc001lvl.1_Intron	p.P137T|p.P137H	NM_016412	NP_057496			Colorectal(5;0.00388)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	2	546|547	+		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)						B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000300632.5	37	c.409C>A|c.410C>A	CCDS7728.1																																																																																				PASS	0.678	IGF2-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000612		15	21|20	15	20	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020998	5020998	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:5020998G>C	ENST00000321543.1	+	1	786	c.786G>C	c.(784-786)atG>atC	p.M262I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M262I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGTGTCAATGGTCCATCGCT	0.463																																						uc010qyu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(784-786)ATG>ATC		olfactory receptor, family 51, subfamily L,							216.0	185.0	196.0					11																	5020998		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020998G>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.786G>C	11.37:g.5020998G>C	ENSP00000322156:p.Met262Ile						p.M262I	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	786	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	262			Extracellular (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.786G>C	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	7.770	0.707171	0.15239	.	.	ENSG00000176798	ENST00000321543	T	0.32988	1.43	5.43	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.13798	0.0334	N	0.10645	0.015	0.25272	N	0.989508	B	0.02656	0.0	B	0.08055	0.003	T	0.12426	-1.0548	10	0.30078	T	0.28	.	5.9258	0.19112	0.1636:0.1571:0.6793:0.0	.	262	Q8NGJ5	O51L1_HUMAN	I	262	ENSP00000322156:M262I	ENSP00000322156:M262I	M	+	3	0	OR51L1	4977574	0.853000	0.29707	0.998000	0.56505	0.967000	0.64934	0.981000	0.29526	1.531000	0.49152	-0.143000	0.13931	ATG		PASS	0.463	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		4	30	4	30	---	---	---	---
OR52A4	390053	broad.mit.edu	37	11	5142501	5142501	+	RNA	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:5142501A>G	ENST00000498233.1	-	0	897							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F103S(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCACATCTGAAAGAGGCAAGC	0.463																																						uc001lzz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)TTT>TCT		olfactory receptor, family 52, subfamily A,							56.0	51.0	52.0					11																	5142501		2201	4298	6499			390053							g.chr11:5142501A>G			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142501A>G						OR52A4_uc001maa.2_RNA	p.F103S	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	308	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.308T>C		.	.	.	.	.	.	.	.	.	.	A	12.72	2.023853	0.35701	.	.	ENSG00000248953	ENST00000380369	.	.	.	3.89	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49881	0.1583	.	.	.	0.23550	N	0.997431	P	0.51449	0.945	P	0.50082	0.63	T	0.60939	-0.7163	6	0.52906	T	0.07	.	8.139	0.31071	0.9001:0.0:0.0999:0.0	.	103	A6NMU1	O52A4_HUMAN	S	103	.	ENSP00000369727:F103S	F	-	2	0	OR52A4	5099077	0.000000	0.05858	0.672000	0.29872	0.997000	0.91878	0.620000	0.24403	0.657000	0.30906	0.528000	0.53228	TTT		PASS	0.463	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		5	40	5	40	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537174	5537174	+	Silent	SNP	C	C	A	rs553557959		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:5537174C>A	ENST00000380184.1	-	1	761	c.498G>T	c.(496-498)gtG>gtT	p.V166V	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	166								p.V166V(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGGGTGGCTCACTTCCAAGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21487	0.0		0.0	False		,,,				2504	0.001					uc001maz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(496-498)GTG>GTT		ubiquilin-like							136.0	132.0	133.0					11																	5537174		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537174C>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.498G>T	11.37:g.5537174C>A						HBG2_uc001mak.1_Intron	p.V166V	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	783	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	166					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.498G>T	CCDS31385.1																																																																																				PASS	0.507	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		16	40	16	40	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6238899	6238899	+	Silent	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:6238899T>A	ENST00000449352.2	-	9	2180	c.1917A>T	c.(1915-1917)ccA>ccT	p.P639P	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Silent_p.P653P|FAM160A2_ENST00000524416.1_Silent_p.P639P			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	639					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.P653P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCATGATCCTGGCACTCCAT	0.672																																						uc001mcl.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1915-1917)CCA>CCT		hypothetical protein LOC84067 isoform 2							36.0	38.0	37.0					11																	6238899		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238899T>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1917A>T	11.37:g.6238899T>A						FAM160A2_uc001mck.3_Silent_p.P653P|FAM160A2_uc001mcm.2_Silent_p.P639P	p.P639P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			9	2276	-			639					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1917A>T	CCDS44530.1																																																																																				PASS	0.672	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		8	18	8	18	---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6243821	6243821	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:6243821T>A	ENST00000449352.2	-	6	1305	c.1042A>T	c.(1042-1044)Atc>Ttc	p.I348F	FAM160A2_ENST00000265978.4_Missense_Mutation_p.I348F|FAM160A2_ENST00000524416.1_Missense_Mutation_p.I348F			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	348					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.I348F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTACTGGCGATCATCTCCTCC	0.502																																						uc001mcl.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1042-1044)ATC>TTC		hypothetical protein LOC84067 isoform 2							106.0	90.0	96.0					11																	6243821		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6243821T>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1042A>T	11.37:g.6243821T>A	ENSP00000416918:p.Ile348Phe					FAM160A2_uc001mck.3_Missense_Mutation_p.I348F|FAM160A2_uc001mcm.2_Missense_Mutation_p.I348F	p.I348F	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			6	1401	-			348					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1042A>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525698	0.85600	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.31769	1.48;1.48;1.48	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	L	0.54323	1.7	0.80722	D	1	P;P;D	0.89917	0.771;0.749;1.0	P;P;D	0.83275	0.667;0.57;0.996	T	0.43261	-0.9402	10	0.39692	T	0.17	-0.4166	14.6219	0.68592	0.0:0.0:0.0:1.0	.	348;348;348	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	F	348;273;348;348	ENSP00000416918:I348F;ENSP00000265978:I348F;ENSP00000431773:I348F	ENSP00000265978:I348F	I	-	1	0	FAM160A2	6200397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.052000	0.64263	2.117000	0.64856	0.459000	0.35465	ATC		PASS	0.502	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		9	29	9	29	---	---	---	---
CCKBR	887	broad.mit.edu	37	11	6290904	6290904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:6290904G>T	ENST00000334619.2	+	2	350	c.157G>T	c.(157-159)Gag>Tag	p.E53*	CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Nonsense_Mutation_p.E53*|CCKBR_ENST00000525462.1_Nonsense_Mutation_p.E53*	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	53					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.E53*(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCCAGAATTGGAGCTGGCCAT	0.537																																						uc001mcp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(157-159)GAG>TAG		cholecystokinin B receptor	Pentagastrin(DB00183)						85.0	79.0	81.0					11																	6290904		2201	4296	6497	SO:0001587	stop_gained	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6290904G>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.157G>T	11.37:g.6290904G>T	ENSP00000335544:p.Glu53*					CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Nonsense_Mutation_p.E53*|CCKBR_uc001mcs.2_Nonsense_Mutation_p.E53*	p.E53*	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	350	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	53			Extracellular (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Nonsense_Mutation	SNP	ENST00000334619.2	37	c.157G>T	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739334	0.69304	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	.	.	.	4.61	4.61	0.57282	.	0.343837	0.26474	N	0.024167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.101	0.53783	0.0:0.1737:0.8263:0.0	.	.	.	.	X	53	.	ENSP00000335544:E53X	E	+	1	0	CCKBR	6247480	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.866000	0.48420	2.398000	0.81561	0.563000	0.77884	GAG		PASS	0.537	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		8	20	8	20	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661842	6661842	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:6661842G>T	ENST00000299441.3	-	2	1414	c.1003C>A	c.(1003-1005)Cga>Aga	p.R335R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R335R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCATCTCGTGCTTGCACC	0.587																																						uc001mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(1003-1005)CGA>AGA		dachsous 1 precursor							104.0	98.0	100.0					11																	6661842		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661842G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1003C>A	11.37:g.6661842G>T							p.R335R	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1413	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	335			Extracellular (Potential).|Cadherin 3.		O15098	Silent	SNP	ENST00000299441.3	37	c.1003C>A	CCDS7771.1																																																																																				PASS	0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		12	54	12	54	---	---	---	---
OR6A2	8590	broad.mit.edu	37	11	6816414	6816414	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:6816414G>T	ENST00000332601.3	-	1	714	c.526C>A	c.(526-528)Ccc>Acc	p.P176T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	176					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P176T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGATGTTGGGGCCACAGTAA	0.493																																						uc001mes.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(526-528)CCC>ACC		olfactory receptor, family 6, subfamily A,							121.0	123.0	122.0					11																	6816414		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816414G>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.526C>A	11.37:g.6816414G>T	ENSP00000330384:p.Pro176Thr						p.P176T	NM_003696	NP_003687	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	726	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	176			Extracellular (Potential).		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.526C>A	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286656	0.40494	.	.	ENSG00000184933	ENST00000332601	T	0.00107	8.72	4.97	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00300	0.0009	L	0.48935	1.535	0.25520	N	0.987376	D	0.89917	1.0	D	0.97110	1.0	T	0.51772	-0.8663	10	0.49607	T	0.09	.	7.8401	0.29393	0.0863:0.0:0.7522:0.1614	.	176	O95222	OR6A2_HUMAN	T	176	ENSP00000330384:P176T	ENSP00000330384:P176T	P	-	1	0	OR6A2	6772990	0.002000	0.14202	0.976000	0.42696	0.780000	0.44128	0.735000	0.26115	0.776000	0.33473	0.655000	0.94253	CCC		PASS	0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		14	86	14	86	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033705	30033705	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:30033705C>A	ENST00000328224.6	-	2	1754	c.521G>T	c.(520-522)tGt>tTt	p.C174F	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	174					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.C174F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACGTTCACAACAGTCACTGTA	0.502																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(520-522)TGT>TTT		potassium voltage-gated channel, shaker-related							71.0	70.0	71.0					11																	30033705		2150	4239	6389	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033705C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.521G>T	11.37:g.30033705C>A	ENSP00000328511:p.Cys174Phe						p.C174F	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1673	-			174						Missense_Mutation	SNP	ENST00000328224.6	37	c.521G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828716	0.50845	.	.	ENSG00000182255	ENST00000328224	D	0.96885	-4.16	4.66	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.92267	0.7547	N	0.24115	0.695	0.80722	D	1	B	0.21452	0.056	B	0.20384	0.029	D	0.89189	0.3549	10	0.22109	T	0.4	.	17.5713	0.87935	0.0:1.0:0.0:0.0	.	174	P22459	KCNA4_HUMAN	F	174	ENSP00000328511:C174F	ENSP00000328511:C174F	C	-	2	0	KCNA4	29990281	1.000000	0.71417	0.754000	0.31244	0.647000	0.38526	6.060000	0.71141	2.145000	0.66743	0.561000	0.74099	TGT		PASS	0.502	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	24	7	24	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31822244	31822244	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:31822244G>A	ENST00000379132.3	-	6	798	c.518C>T	c.(517-519)aCg>aTg	p.T173M	PAX6_ENST00000379107.2_Missense_Mutation_p.T187M|PAX6_ENST00000379111.2_Missense_Mutation_p.T173M|PAX6_ENST00000379123.5_Missense_Mutation_p.T173M|PAX6_ENST00000241001.8_Missense_Mutation_p.T173M|PAX6_ENST00000379129.2_Missense_Mutation_p.T187M|PAX6_ENST00000379115.4_Missense_Mutation_p.T187M|PAX6_ENST00000419022.1_Missense_Mutation_p.T187M|PAX6_ENST00000533156.1_5'Flank			P26367	PAX6_HUMAN	paired box 6	173	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.T187M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TTTACCTTGCGTAGGTTGCCC	0.572									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(517-519)ACG>ATG		paired box gene 6 isoform a							152.0	155.0	154.0					11																	31822244		2202	4299	6501	SO:0001583	missense	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31822244G>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.518C>T	11.37:g.31822244G>A	ENSP00000368427:p.Thr173Met					PAX6_uc001mte.3_Missense_Mutation_p.T173M|PAX6_uc001mtg.3_Missense_Mutation_p.T187M|PAX6_uc001mtf.3_Missense_Mutation_p.T173M|PAX6_uc001mth.3_Missense_Mutation_p.T173M|PAX6_uc009yjr.2_Missense_Mutation_p.T173M	p.T173M	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			6	1408	-	Lung SC(675;0.225)		173			Gln/Gly-rich.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.518C>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248252	0.39697	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303;ENST00000455099	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99023	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-3.35;-2.81;-2.81;-3.35;-3.09;-2.77;-3.58;-5.34	4.35	4.35	0.52113	.	0.645915	0.16034	N	0.232737	D	0.95592	0.8567	N	0.11560	0.145	0.25780	N	0.98474	B;P	0.34757	0.187;0.467	B;B	0.26310	0.046;0.068	D	0.91373	0.5121	10	0.48119	T	0.1	.	16.845	0.85978	0.0:0.0:1.0:0.0	.	187;173	F1T0F8;P26367	.;PAX6_HUMAN	M	187;173;187;187;173;187;173;173;37;37;173;128;37;37;120	ENSP00000404100:T187M;ENSP00000368427:T173M;ENSP00000368424:T187M;ENSP00000368401:T187M;ENSP00000241001:T173M;ENSP00000368410:T187M;ENSP00000368406:T173M;ENSP00000368418:T173M;ENSP00000451901:T37M;ENSP00000450775:T37M;ENSP00000368403:T173M;ENSP00000451372:T128M;ENSP00000452558:T37M;ENSP00000435884:T37M;ENSP00000397384:T120M	ENSP00000241001:T173M	T	-	2	0	PAX6	31778820	1.000000	0.71417	0.708000	0.30435	0.816000	0.46133	6.777000	0.75028	2.130000	0.65690	0.561000	0.74099	ACG		PASS	0.572	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		41	74	41	74	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49214371	49214371	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:49214371C>A	ENST00000256999.2	-	4	747	c.487G>T	c.(487-489)Gct>Tct	p.A163S	FOLH1_ENST00000533034.1_Missense_Mutation_p.A148S|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Missense_Mutation_p.A148S|FOLH1_ENST00000356696.3_Missense_Mutation_p.A163S	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	163					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.A163S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGAGAGAAAGCACTGAAAGGT	0.348																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(487-489)GCT>TCT		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						105.0	110.0	108.0					11																	49214371		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49214371C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.487G>T	11.37:g.49214371C>A	ENSP00000256999:p.Ala163Ser					FOLH1_uc001ngz.2_Missense_Mutation_p.A163S|FOLH1_uc009yly.2_Missense_Mutation_p.A148S|FOLH1_uc009ylz.2_Missense_Mutation_p.A148S|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Missense_Mutation_p.A148S	p.A163S	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			4	748	-			163			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.487G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348428	0.82132	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	3.45	3.45	0.39498	.	0.000000	0.49305	D	0.000160	T	0.74291	0.3697	M	0.93375	3.41	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.997;0.98;1.0;0.806	D;D;D;D;P	0.97110	1.0;0.994;0.97;0.999;0.79	T	0.81627	-0.0847	10	0.87932	D	0	.	12.5174	0.56040	0.0:1.0:0.0:0.0	.	148;148;148;163;163	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	S	163;163;148;148;163	ENSP00000256999:A163S;ENSP00000349129:A163S;ENSP00000344131:A148S;ENSP00000431463:A148S	ENSP00000256999:A163S	A	-	1	0	FOLH1	49170947	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.696000	0.74598	1.781000	0.52344	0.400000	0.26472	GCT		PASS	0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		11	41	11	41	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541493	55541493	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:55541493C>A	ENST00000361760.1	+	1	580	c.580C>A	c.(580-582)Ccc>Acc	p.P194T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P194T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTACTCAGACCCCTATATCAG	0.353																																						uc010ril.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(580-582)CCC>ACC		olfactory receptor, family 5, subfamily D,							120.0	117.0	118.0					11																	55541493		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541493C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.580C>A	11.37:g.55541493C>A	ENSP00000354800:p.Pro194Thr						p.P194T	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	580	+		all_epithelial(135;0.196)	194			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.580C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.932258	0.00488	.	.	ENSG00000198877	ENST00000361760	T	0.00020	9.05	3.3	-2.06	0.07298	GPCR, rhodopsin-like superfamily (1);	1.390070	0.05401	U	0.540720	T	0.00039	0.0001	N	0.02368	-0.58	0.09310	N	1	B	0.19935	0.04	B	0.24006	0.05	T	0.16512	-1.0400	10	0.02654	T	1	-6.2305	2.817	0.05458	0.5271:0.2337:0.1373:0.102	.	194	Q8NGL4	OR5DD_HUMAN	T	194	ENSP00000354800:P194T	ENSP00000354800:P194T	P	+	1	0	OR5D13	55298069	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.505000	0.06367	-0.098000	0.12285	-0.499000	0.04595	CCC		PASS	0.353	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		23	73	23	73	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761640	55761640	+	Silent	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:55761640C>T	ENST00000278409.1	-	1	461	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	154					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCATGAAGTTCAGCAACCCTG	0.507																																						uc010riv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(460-462)CTG>CTA		olfactory receptor, family 5, subfamily F,							54.0	53.0	53.0					11																	55761640		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761640C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.462G>A	11.37:g.55761640C>T							p.L154L	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	462	-	Esophageal squamous(21;0.00448)		154			Helical; Name=4; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.462G>A	CCDS31515.1																																																																																				PASS	0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		14	34	14	34	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55926940	55926940	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:55926940A>G	ENST00000313447.1	-	1	853	c.854T>C	c.(853-855)cTt>cCt	p.L285P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285P(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CAAAGGGTTAAGCATGGGGAT	0.353																																						uc010rja.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(853-855)CTT>CCT		olfactory receptor, family 8, subfamily K,							91.0	81.0	84.0					11																	55926940		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926940A>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.854T>C	11.37:g.55926940A>G	ENSP00000323853:p.Leu285Pro						p.L285P	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	854	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	285			Helical; Name=7; (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.854T>C	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167719	0.57476	.	.	ENSG00000181752	ENST00000313447	T	0.50813	0.73	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000127	T	0.78400	0.4277	H	0.98738	4.315	0.24263	N	0.995278	D	0.76494	0.999	D	0.65987	0.94	T	0.74788	-0.3546	10	0.87932	D	0	.	11.4098	0.49919	1.0:0.0:0.0:0.0	.	285	Q8NH50	OR8K5_HUMAN	P	285	ENSP00000323853:L285P	ENSP00000323853:L285P	L	-	2	0	OR8K5	55683516	0.591000	0.26824	0.975000	0.42487	0.878000	0.50629	6.048000	0.71046	1.748000	0.51833	0.381000	0.24937	CTT		PASS	0.353	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		4	43	4	43	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043811	56043811	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:56043811A>T	ENST00000313033.2	+	1	783	c.697A>T	c.(697-699)Att>Ttt	p.I233F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I233F(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTATGGTTTTATTCTGTTGGC	0.428																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(697-699)ATT>TTT		olfactory receptor, family 5, subfamily T,							203.0	190.0	194.0					11																	56043811		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043811A>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.697A>T	11.37:g.56043811A>T	ENSP00000323612:p.Ile233Phe						p.I233F	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	697	+	Esophageal squamous(21;0.00448)		233			Cytoplasmic (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.697A>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296751	0.23650	.	.	ENSG00000181698	ENST00000313033	T	0.00414	7.52	3.44	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.124595	0.34700	N	0.003750	T	0.01592	0.0051	H	0.96142	3.775	0.09310	N	1	D	0.67145	0.996	D	0.77557	0.99	T	0.22138	-1.0225	10	0.87932	D	0	.	8.0814	0.30748	0.896:0.0:0.104:0.0	.	233	Q8NG75	OR5T1_HUMAN	F	233	ENSP00000323612:I233F	ENSP00000323612:I233F	I	+	1	0	OR5T1	55800387	0.997000	0.39634	0.007000	0.13788	0.023000	0.10783	3.660000	0.54496	0.478000	0.27488	0.381000	0.24937	ATT		PASS	0.428	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		43	119	43	119	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886523	57886523	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:57886523A>G	ENST00000302610.1	-	1	393	c.394T>C	c.(394-396)Tat>Cat	p.Y132H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y132H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCCACGGTATAGAGCAGTGGG	0.552																																						uc001nml.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(394-396)TAT>CAT		olfactory receptor, family 9, subfamily I,							48.0	45.0	46.0					11																	57886523		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886523A>G	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.394T>C	11.37:g.57886523A>G	ENSP00000302606:p.Tyr132His					OR9Q1_uc001nmj.2_Intron	p.Y132H	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	394	-		Breast(21;0.0589)	132			Cytoplasmic (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.394T>C	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970481	0.53614	.	.	ENSG00000172377	ENST00000302610	T	0.33438	1.41	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000492	T	0.67202	0.2868	H	0.95950	3.745	0.45930	D	0.998766	D	0.89917	1.0	D	0.74348	0.983	T	0.78553	-0.2160	10	0.87932	D	0	-23.4326	14.0976	0.65034	1.0:0.0:0.0:0.0	.	132	Q8NGQ6	OR9I1_HUMAN	H	132	ENSP00000302606:Y132H	ENSP00000302606:Y132H	Y	-	1	0	OR9I1	57643099	1.000000	0.71417	0.974000	0.42286	0.177000	0.22998	7.093000	0.76937	2.267000	0.75376	0.383000	0.25322	TAT		PASS	0.552	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		11	22	11	22	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206843	58206843	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:58206843T>A	ENST00000302572.2	-	1	803	c.782A>T	c.(781-783)aAc>aTc	p.N261I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N261I(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGCTGGAGTTAGGTCGTAA	0.458																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)AAC>ATC		olfactory receptor, family 5, subfamily B,							88.0	82.0	84.0					11																	58206843		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206843T>A	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.782A>T	11.37:g.58206843T>A	ENSP00000306657:p.Asn261Ile						p.N261I	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	782	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	261			Extracellular (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.782A>T	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	T	8.686	0.906363	0.17833	.	.	ENSG00000172362	ENST00000302572	T	0.00145	8.67	4.3	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.105627	0.42420	D	0.000707	T	0.00109	0.0003	N	0.21617	0.685	0.22842	N	0.998663	B	0.21071	0.051	B	0.24155	0.051	T	0.27571	-1.0070	10	0.87932	D	0	0.124	7.2501	0.26144	0.0:0.625:0.2775:0.0975	.	261	Q96R08	OR5BC_HUMAN	I	261	ENSP00000306657:N261I	ENSP00000306657:N261I	N	-	2	0	OR5B12	57963419	0.000000	0.05858	1.000000	0.80357	0.429000	0.31625	-0.252000	0.08806	1.152000	0.42452	-0.414000	0.06135	AAC		PASS	0.458	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		11	40	11	40	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60102436	60102436	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:60102436A>T	ENST00000300182.4	+	1	133	c.68A>T	c.(67-69)cAa>cTa	p.Q23L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	23						integral component of membrane (GO:0016021)		p.Q23L(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AACTTCTCCCAAGCAGAGAAA	0.423																																						uc001npd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CAA>CTA		membrane-spanning 4-domains, subfamily A, member							156.0	138.0	144.0					11																	60102436		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60102436A>T	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.68A>T	11.37:g.60102436A>T	ENSP00000300182:p.Gln23Leu						p.Q23L	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			1	82	+			23			Cytoplasmic (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.68A>T	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233972	0.39498	.	.	ENSG00000166926	ENST00000300182	T	0.14266	2.52	2.4	2.4	0.29515	.	1.257820	0.06336	U	0.707103	T	0.15003	0.0362	M	0.64404	1.975	0.09310	N	1	D	0.59357	0.985	B	0.38616	0.277	T	0.32348	-0.9910	10	0.87932	D	0	.	6.553	0.22444	1.0:0.0:0.0:0.0	.	23	Q96DS6	M4A6E_HUMAN	L	23	ENSP00000300182:Q23L	ENSP00000300182:Q23L	Q	+	2	0	MS4A6E	59859012	0.073000	0.21202	0.022000	0.16811	0.425000	0.31504	2.019000	0.41001	1.081000	0.41110	0.254000	0.18369	CAA		PASS	0.423	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			36	54	36	54	---	---	---	---
MS4A6E	245802	broad.mit.edu	37	11	60102450	60102450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:60102450G>T	ENST00000300182.4	+	1	147	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	28						integral component of membrane (GO:0016021)		p.E28*(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443																																						uc001npd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(82-84)GAA>TAA		membrane-spanning 4-domains, subfamily A, member							148.0	130.0	136.0					11																	60102450		2203	4300	6503	SO:0001587	stop_gained	245802					integral to membrane	receptor activity	g.chr11:60102450G>T	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.82G>T	11.37:g.60102450G>T	ENSP00000300182:p.Glu28*						p.E28*	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			1	96	+			28			Cytoplasmic (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Nonsense_Mutation	SNP	ENST00000300182.4	37	c.82G>T	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868139	0.72065	.	.	ENSG00000166926	ENST00000300182	.	.	.	2.4	-4.09	0.03951	.	2.704650	0.01354	N	0.012000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.3416	0.11113	0.2879:0.215:0.4971:0.0	.	.	.	.	X	28	.	ENSP00000300182:E28X	E	+	1	0	MS4A6E	59859026	0.000000	0.05858	0.003000	0.11579	0.428000	0.31595	-1.468000	0.02350	-0.833000	0.04245	0.305000	0.20034	GAA		PASS	0.443	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			25	57	25	57	---	---	---	---
MS4A7	58475	broad.mit.edu	37	11	60150658	60150658	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:60150658C>A	ENST00000300184.3	+	2	240	c.44C>A	c.(43-45)aCa>aAa	p.T15K	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.T15K|MS4A7_ENST00000358246.1_Missense_Mutation_p.T15K|MS4A7_ENST00000530234.2_Missense_Mutation_p.T15K	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	15						integral component of membrane (GO:0016021)		p.T15K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CACAGCTTTACACCAAAGGGC	0.458																																						uc001npe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(43-45)ACA>AAA		membrane-spanning 4-domains, subfamily A, member							119.0	106.0	110.0					11																	60150658		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150658C>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.44C>A	11.37:g.60150658C>A	ENSP00000300184:p.Thr15Lys					MS4A7_uc001npf.2_Missense_Mutation_p.T15K|MS4A7_uc001npg.2_Missense_Mutation_p.T15K|MS4A7_uc001nph.2_Missense_Mutation_p.T15K|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.T15K	p.T15K	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN			2	189	+			15			Cytoplasmic (Potential).		A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.44C>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886235	0.51908	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.48836	3.18;2.29;2.29;2.32;2.52;0.8	3.8	-3.42	0.04825	.	2.926210	0.01185	N	0.007193	T	0.54679	0.1873	L	0.59436	1.845	0.09310	N	1	P;D;P	0.61697	0.879;0.99;0.94	B;P;P	0.61201	0.176;0.885;0.462	T	0.50541	-0.8816	10	0.38643	T	0.18	-48.7161	1.0643	0.01608	0.154:0.2684:0.1524:0.4252	.	15;15;15	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	K	15	ENSP00000300184:T15K;ENSP00000350983:T15K;ENSP00000434637:T15K;ENSP00000433861:T15K;ENSP00000434819:T15K;ENSP00000433184:T15K	ENSP00000300184:T15K	T	+	2	0	MS4A7	59907234	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.157000	0.10085	-0.707000	0.05022	0.655000	0.94253	ACA		PASS	0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			19	62	19	62	---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62568599	62568599	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:62568599G>T	ENST00000532297.1	-	10	1502	c.873C>A	c.(871-873)ccC>ccA	p.P291P	NXF1_ENST00000531709.2_Silent_p.P291P|NXF1_ENST00000294172.2_Silent_p.P291P|NXF1_ENST00000531131.1_Silent_p.P154P|NXF1_ENST00000439713.2_Silent_p.P291P			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	291					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P291P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTCAGGTTGGGTGCCTTCT	0.453																																						uc001nvf.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(871-873)CCC>CCA		nuclear RNA export factor 1 isoform 1							120.0	106.0	111.0					11																	62568599		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62568599G>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.873C>A	11.37:g.62568599G>T						NXF1_uc001nvg.1_Silent_p.P291P|NXF1_uc009yog.1_Silent_p.P334P|NXF1_uc010rmh.1_Silent_p.P154P	p.P291P	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			9	1009	-			291			Interaction with THOC4.|LRR 1.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.873C>A	CCDS8037.1																																																																																				PASS	0.453	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		16	28	16	28	---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63175607	63175607	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:63175607T>A	ENST00000279178.3	+	8	1561	c.1312T>A	c.(1312-1314)Ttg>Atg	p.L438M	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	438					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L438M(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GCGTGAGGTTTTGGCAACACT	0.478																																						uc001nww.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(1312-1314)TTG>ATG		solute carrier family 22 (organic anion/cation							101.0	93.0	96.0					11																	63175607		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63175607T>A	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1312T>A	11.37:g.63175607T>A	ENSP00000279178:p.Leu438Met					SLC22A9_uc001nwx.2_Intron	p.L438M	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			8	1580	+			438			Helical; (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.1312T>A	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583674	0.46006	.	.	ENSG00000149742	ENST00000279178	T	0.62639	0.01	2.46	-0.344	0.12628	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.318883	0.30003	N	0.010648	T	0.71341	0.3328	M	0.87269	2.87	0.09310	N	1	D	0.56521	0.976	P	0.61070	0.883	T	0.61168	-0.7117	10	0.54805	T	0.06	.	2.5059	0.04645	0.0:0.209:0.2817:0.5094	.	438	Q8IVM8	S22A9_HUMAN	M	438	ENSP00000279178:L438M	ENSP00000279178:L438M	L	+	1	2	SLC22A9	62932183	0.000000	0.05858	0.001000	0.08648	0.436000	0.31835	-0.310000	0.08135	-0.071000	0.12886	0.172000	0.16884	TTG		PASS	0.478	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		21	14	21	14	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75442217	75442217	+	Silent	SNP	G	G	A	rs369041843		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:75442217G>A	ENST00000198801.5	+	6	961	c.891G>A	c.(889-891)tcG>tcA	p.S297S	MOGAT2_ENST00000526712.1_Silent_p.S215S	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	297					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.S297S(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGCATCCCTCGGAGGAGGAGG	0.572																																						uc010rru.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(889-891)TCG>TCA		monoacylglycerol O-acyltransferase 2							103.0	87.0	92.0					11																	75442217		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442217G>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.891G>A	11.37:g.75442217G>A						MOGAT2_uc010rrv.1_Silent_p.S215S	p.S297S	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			6	891	+	Ovarian(111;0.103)		297					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.891G>A	CCDS8240.1																																																																																				PASS	0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		25	32	25	32	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88338018	88338018	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:88338018C>A	ENST00000305447.4	-	4	1411	c.1262G>T	c.(1261-1263)gGc>gTc	p.G421V	GRM5_ENST00000455756.2_Missense_Mutation_p.G421V|GRM5_ENST00000393297.1_Missense_Mutation_p.G421V|GRM5_ENST00000418177.2_Missense_Mutation_p.G421V|GRM5_ENST00000305432.5_Missense_Mutation_p.G421V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	421					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.G421V(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCCTGCATAGCCTGGGCAGAG	0.463																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1261-1263)GGC>GTC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						89.0	79.0	82.0					11																	88338018		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88338018C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1262G>T	11.37:g.88338018C>A	ENSP00000306138:p.Gly421Val					GRM5_uc009yvm.2_Missense_Mutation_p.G421V	p.G421V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			4	1462	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	421			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1262G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107345	0.56291	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.89	5.89	0.94794	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;0.971	D;D	0.81914	0.995;0.921	D	0.90977	0.4824	9	.	.	.	.	20.2637	0.98458	0.0:1.0:0.0:0.0	.	421;421	P41594-2;P41594	.;GRM5_HUMAN	V	421	ENSP00000402912:G421V;ENSP00000405690:G421V;ENSP00000305905:G421V;ENSP00000306138:G421V;ENSP00000376975:G421V	.	G	-	2	0	GRM5	87977666	1.000000	0.71417	0.705000	0.30386	0.330000	0.28571	4.903000	0.63272	2.798000	0.96311	0.544000	0.68410	GGC		PASS	0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		15	22	15	22	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89059961	89059961	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:89059961C>A	ENST00000263317.4	-	18	1938	c.1700G>T	c.(1699-1701)gGg>gTg	p.G567V	NOX4_ENST00000424319.1_Missense_Mutation_p.G543V|NOX4_ENST00000343727.5_Missense_Mutation_p.G543V|NOX4_ENST00000525196.1_Missense_Mutation_p.G331V|NOX4_ENST00000534731.1_Missense_Mutation_p.G527V|NOX4_ENST00000527956.1_Missense_Mutation_p.G543V|NOX4_ENST00000413594.2_Missense_Mutation_p.G588V|NOX4_ENST00000527626.1_Missense_Mutation_p.G380V|NOX4_ENST00000375979.3_Missense_Mutation_p.G260V|NOX4_ENST00000542487.1_Missense_Mutation_p.G543V|NOX4_ENST00000528341.1_Missense_Mutation_p.G542V|NOX4_ENST00000535633.1_Missense_Mutation_p.G543V|NOX4_ENST00000532825.1_Missense_Mutation_p.G503V|NOX4_ENST00000531342.1_Missense_Mutation_p.G220V			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	567	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.G567V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAATCTTGTCCCATATGAGTT	0.373																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1699-1701)GGG>GTG		NADPH oxidase 4 isoform a							106.0	103.0	104.0					11																	89059961		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89059961C>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1700G>T	11.37:g.89059961C>A	ENSP00000263317:p.Gly567Val					NOX4_uc009yvr.2_Missense_Mutation_p.G542V|NOX4_uc001pcu.2_Missense_Mutation_p.G493V|NOX4_uc001pcw.2_Missense_Mutation_p.G260V|NOX4_uc001pcx.2_Missense_Mutation_p.G220V|NOX4_uc001pcv.2_Missense_Mutation_p.G527V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.G380V|NOX4_uc009yvp.2_Missense_Mutation_p.G331V|NOX4_uc010rtv.1_Missense_Mutation_p.G503V|NOX4_uc009yvq.2_Missense_Mutation_p.G543V	p.G567V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			18	1939	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	567			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1700G>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	c	14.29	2.492308	0.44352	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95821	-3.73;-3.73;-3.73;-3.73;-3.74;-3.67;-3.82;-3.73;-3.73;-3.48;-3.7;-3.78;-3.14;-3.08	4.4	3.49	0.39957	.	0.287829	0.32328	N	0.006247	D	0.97390	0.9146	M	0.83384	2.64	0.58432	D	0.999999	P;P;P;D;D;D;D;B	0.89917	0.882;0.586;0.868;0.999;1.0;1.0;0.999;0.399	P;P;B;D;D;D;D;B	0.91635	0.76;0.501;0.432;0.958;0.999;0.982;0.979;0.247	D	0.97054	0.9766	9	.	.	.	-2.0014	12.4757	0.55811	0.0:0.9175:0.0:0.0825	.	503;380;542;331;220;260;527;567	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	V	543;543;543;527;331;567;503;543;543;380;542;588;220;260	ENSP00000412446:G543V;ENSP00000440172:G543V;ENSP00000344747:G543V;ENSP00000436892:G527V;ENSP00000436716:G331V;ENSP00000263317:G567V;ENSP00000434924:G503V;ENSP00000433797:G543V;ENSP00000439373:G543V;ENSP00000436093:G380V;ENSP00000436970:G542V;ENSP00000405705:G588V;ENSP00000435039:G220V;ENSP00000365146:G260V	.	G	-	2	0	NOX4	88699609	1.000000	0.71417	0.997000	0.53966	0.405000	0.30901	4.784000	0.62411	0.850000	0.35239	-0.349000	0.07799	GGG		PASS	0.373	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		18	16	18	16	---	---	---	---
MTNR1B	4544	broad.mit.edu	37	11	92715302	92715302	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:92715302G>A	ENST00000257068.2	+	2	919	c.913G>A	c.(913-915)Gcc>Acc	p.A305T		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	305					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.A305T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTGCCTGAATGCCATTGTCTA	0.512																																						uc001pdk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(913-915)GCC>ACC		melatonin receptor 1B	Ramelteon(DB00980)						197.0	207.0	204.0					11																	92715302		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715302G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.913G>A	11.37:g.92715302G>A	ENSP00000257068:p.Ala305Thr						p.A305T	NM_005959	NP_005950	P49286	MTR1B_HUMAN			2	1016	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	305			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000257068.2	37	c.913G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437851	0.62955	.	.	ENSG00000134640	ENST00000257068	T	0.71817	-0.6	4.0	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.064020	0.64402	N	0.000007	D	0.83271	0.5218	M	0.87827	2.91	0.58432	D	0.999995	D	0.71674	0.998	D	0.76575	0.988	D	0.83385	0.0014	10	0.87932	D	0	-19.7473	9.6801	0.40065	0.1702:0.0:0.8298:0.0	.	305	P49286	MTR1B_HUMAN	T	305	ENSP00000257068:A305T	ENSP00000257068:A305T	A	+	1	0	MTNR1B	92354950	1.000000	0.71417	0.066000	0.19879	0.768000	0.43524	7.041000	0.76558	0.466000	0.27193	-0.339000	0.08088	GCC		PASS	0.512	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			14	210	14	210	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93797542	93797542	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:93797542A>G	ENST00000315765.9	+	4	682	c.674A>G	c.(673-675)gAg>gGg	p.E225G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	225	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E226G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGGATCGAGAGTTTGTTATA	0.378																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(673-675)GAG>GGG		hephaestin-like 1 precursor							159.0	148.0	151.0					11																	93797542		1876	4100	5976	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797542A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.674A>G	11.37:g.93797542A>G	ENSP00000313699:p.Glu225Gly						p.E225G	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			4	831	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	225			Plastocyanin-like 2.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.674A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425973	0.62733	.	.	ENSG00000181333	ENST00000315765	D	0.98666	-5.06	5.04	5.04	0.67666	Cupredoxin (2);	0.160556	0.52532	D	0.000065	D	0.98197	0.9404	M	0.91354	3.2	0.42318	D	0.992244	P	0.43431	0.807	B	0.39904	0.313	D	0.98567	1.0644	10	0.72032	D	0.01	.	11.7066	0.51601	0.8418:0.1582:0.0:0.0	.	225	Q6MZM0	HPHL1_HUMAN	G	225	ENSP00000313699:E225G	ENSP00000313699:E225G	E	+	2	0	HEPHL1	93437190	1.000000	0.71417	0.957000	0.39632	0.959000	0.62525	4.648000	0.61425	1.905000	0.55150	0.533000	0.62120	GAG		PASS	0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		10	32	10	32	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103325989	103325989	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:103325989A>T	ENST00000375735.2	+	86	12676	c.12532A>T	c.(12532-12534)Aca>Tca	p.T4178S	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.T791S|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T4185S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T791S(1)|p.T1618S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATCCAGACACATTTCTTAA	0.383																																						uc001pho.2																			2	Substitution - Missense(2)		lung(2)		0						c.(12532-12534)ACA>TCA		dynein, cytoplasmic 2, heavy chain 1							87.0	82.0	83.0					11																	103325989		1829	4080	5909	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103325989A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12532A>T	11.37:g.103325989A>T	ENSP00000364887:p.Thr4178Ser					DYNC2H1_uc001phn.1_Missense_Mutation_p.T4185S|DYNC2H1_uc009yxe.1_Missense_Mutation_p.T791S	p.T4178S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	86	12676	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	4178					O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.12532A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	31	5.090644	0.94149	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.84	5.84	0.93424	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	M	0.79805	2.47	0.58432	D	0.999997	D;P;P	0.76494	0.999;0.873;0.84	D;P;P	0.71184	0.972;0.752;0.767	T	0.01007	-1.1483	10	0.56958	D	0.05	.	15.867	0.79071	1.0:0.0:0.0:0.0	.	791;4178;4185	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	S	4178;791;4185;424;95	ENSP00000364887:T4178S;ENSP00000334021:T791S;ENSP00000381167:T4185S;ENSP00000436736:T95S	ENSP00000334021:T791S	T	+	1	0	DYNC2H1	102831199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.464000	0.73534	2.226000	0.72624	0.482000	0.46254	ACA		PASS	0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		25	31	25	31	---	---	---	---
APOC3	345	broad.mit.edu	37	11	116703578	116703578	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:116703578C>A	ENST00000227667.3	+	4	340	c.278C>A	c.(277-279)cCa>cAa	p.P93Q	APOC3_ENST00000375345.1_Missense_Mutation_p.P111Q	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	93	Lipid-binding.				cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)	p.P93Q(1)		endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGGTCAGACCAACTTCAGCC	0.572																																					GBM(81;259 1650 7161 35190)	uc001ppt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(277-279)CCA>CAA		apolipoprotein C-III precursor							99.0	89.0	92.0					11																	116703578		2201	4296	6497	SO:0001583	missense	345				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding	g.chr11:116703578C>A	X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"""Apolipoproteins"""	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.278C>A	11.37:g.116703578C>A	ENSP00000227667:p.Pro93Gln						p.P93Q	NM_000040	NP_000031	P02656	APOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	4	324	+	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	93			Lipid-binding.		Q08E83|Q6Q786	Missense_Mutation	SNP	ENST00000227667.3	37	c.278C>A	CCDS8377.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478391	0.44044	.	.	ENSG00000110245	ENST00000227667;ENST00000375345	D;D	0.90261	-2.58;-2.64	4.82	1.74	0.24563	.	0.777094	0.10616	N	0.653877	T	0.81024	0.4737	.	.	.	0.09310	N	1	B	0.30914	0.3	B	0.25405	0.06	T	0.67726	-0.5596	9	0.29301	T	0.29	-1.9819	5.6465	0.17592	0.343:0.563:0.0:0.094	.	93	P02656	APOC3_HUMAN	Q	93;111	ENSP00000227667:P93Q;ENSP00000364494:P111Q	ENSP00000227667:P93Q	P	+	2	0	APOC3	116208788	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	1.110000	0.31147	0.630000	0.30394	0.555000	0.69702	CCA		PASS	0.572	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106284.2	NM_000040		11	10	11	10	---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119215587	119215587	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:119215587G>T	ENST00000530681.1	-	6	913	c.769C>A	c.(769-771)Cgc>Agc	p.R257S	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.R257S|MFRP_ENST00000360167.4_Missense_Mutation_p.R257S|MFRP_ENST00000529147.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.R257S	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	257					embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R257S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CACTCACCGCGCCCAGGGGCC	0.602																																						uc001pwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CGC>AGC		membrane frizzled-related protein							41.0	33.0	36.0					11																	119215587		2198	4295	6493	SO:0001583	missense	83552					collagen		g.chr11:119215587G>T	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.769C>A	11.37:g.119215587G>T	ENSP00000456533:p.Arg257Ser					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.R257S	p.R257S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	6	929	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.769C>A	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674454	0.29693	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.67171	-0.25;-0.25;1.94	4.89	1.46	0.22682	.	0.365178	0.31156	N	0.008147	T	0.37945	0.1022	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.003;0.007	B;B	0.15052	0.001;0.012	T	0.19712	-1.0297	10	0.09843	T	0.71	.	8.1723	0.31262	0.0:0.2216:0.5464:0.232	.	257;257	B4DHN8;Q9BY79	.;MFRP_HUMAN	S	257	ENSP00000450509:R257S;ENSP00000391664:R257S;ENSP00000353291:R257S	ENSP00000353291:R257S	R	-	1	0	MFRP	118720797	0.999000	0.42202	0.430000	0.26722	0.760000	0.43138	3.560000	0.53763	0.529000	0.28599	0.561000	0.74099	CGC		PASS	0.602	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		8	4	8	4	---	---	---	---
UBASH3B	84959	broad.mit.edu	37	11	122678809	122678809	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:122678809C>A	ENST00000284273.5	+	13	2112	c.1737C>A	c.(1735-1737)tcC>tcA	p.S579S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	579	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.S579S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ACGCATCTTCCCTTGAAGCGT	0.463																																						uc001pyi.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1735-1737)TCC>TCA		ubiquitin associated and SH3 domain containing,							338.0	323.0	328.0					11																	122678809		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122678809C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1737C>A	11.37:g.122678809C>A							p.S579S	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	13	2097	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	579			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.1737C>A	CCDS31694.1																																																																																				PASS	0.463	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		10	328	10	328	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909083	123909083	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:123909083C>A	ENST00000330487.5	-	1	634	c.626G>T	c.(625-627)tGc>tTc	p.C209F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C209F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGGACAAAGCAGCCCGAGGC	0.562																																						uc001pzq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(625-627)TGC>TTC		olfactory receptor, family 10, subfamily G,							197.0	170.0	179.0					11																	123909083		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909083C>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.626G>T	11.37:g.123909083C>A	ENSP00000329689:p.Cys209Phe						p.C209F	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	626	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	209			Helical; Name=5; (Potential).		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.626G>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586237	0.28268	.	.	ENSG00000182634	ENST00000330487	T	0.36878	1.23	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000054	T	0.65133	0.2662	M	0.92367	3.3	0.34018	D	0.652345	D	0.89917	1.0	D	0.97110	1.0	T	0.78934	-0.2008	10	0.87932	D	0	.	10.3676	0.44033	0.1963:0.8037:0.0:0.0	.	209	Q8NGN6	O10G7_HUMAN	F	209	ENSP00000329689:C209F	ENSP00000329689:C209F	C	-	2	0	OR10G7	123414293	0.000000	0.05858	0.976000	0.42696	0.365000	0.29674	0.307000	0.19296	1.898000	0.54952	0.557000	0.71058	TGC		PASS	0.562	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		37	41	37	41	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440836	124440836	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:124440836C>G	ENST00000284287.3	+	1	944	c.872C>G	c.(871-873)tCt>tGt	p.S291C		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	291					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S291C(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AATGTGGCCTCTGTGTTCTAC	0.493																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(871-873)TCT>TGT		olfactory receptor, family 8, subfamily A,							84.0	74.0	78.0					11																	124440836		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440836C>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.872C>G	11.37:g.124440836C>G	ENSP00000284287:p.Ser291Cys						p.S291C	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	872	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	291			Helical; Name=7; (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.872C>G	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068015	0.55539	.	.	ENSG00000196119	ENST00000284287	T	0.00277	8.34	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000312	T	0.01320	0.0043	H	0.96576	3.845	0.25956	N	0.982681	D	0.89917	1.0	D	0.87578	0.998	T	0.16600	-1.0397	10	0.87932	D	0	.	18.1414	0.89641	0.0:1.0:0.0:0.0	.	291	Q8NGG7	OR8A1_HUMAN	C	291	ENSP00000284287:S291C	ENSP00000284287:S291C	S	+	2	0	OR8A1	123946046	0.599000	0.26891	1.000000	0.80357	0.995000	0.86356	3.917000	0.56424	2.596000	0.87737	0.650000	0.86243	TCT		PASS	0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		6	42	6	42	---	---	---	---
PANX3	116337	broad.mit.edu	37	11	124481592	124481592	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:124481592T>C	ENST00000284288.2	+	1	207	c.140T>C	c.(139-141)tTg>tCg	p.L47S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	47					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.L47S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GGCTCCCCCTTGTTGCTGATG	0.602																																						uc001qah.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)TTG>TCG		pannexin 3							96.0	99.0	98.0					11																	124481592		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124481592T>C	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.140T>C	11.37:g.124481592T>C	ENSP00000284288:p.Leu47Ser						p.L47S	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	1	140	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	47			Helical; (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.140T>C	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.120077	0.77323	.	.	ENSG00000154143	ENST00000284288	T	0.35973	1.28	4.78	4.78	0.61160	.	0.073220	0.56097	D	0.000036	T	0.59756	0.2217	M	0.75615	2.305	0.29311	N	0.868022	D	0.89917	1.0	D	0.76071	0.987	T	0.61287	-0.7093	10	0.87932	D	0	-8.1026	14.4924	0.67660	0.0:0.0:0.0:1.0	.	47	Q96QZ0	PANX3_HUMAN	S	47	ENSP00000284288:L47S	ENSP00000284288:L47S	L	+	2	0	PANX3	123986802	0.999000	0.42202	0.918000	0.36340	0.953000	0.61014	7.661000	0.83786	2.004000	0.58718	0.533000	0.62120	TTG		PASS	0.602	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			10	21	10	21	---	---	---	---
GLB1L2	89944	broad.mit.edu	37	11	134212647	134212647	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:134212647G>T	ENST00000535456.2	+	2	274		c.e2-1		GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000389881.3_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGTCTTTCCAGGCTGGACTGG	0.637																																						uc001qhp.2																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e2-1		galactosidase, beta 1-like 2 precursor							41.0	44.0	43.0					11																	134212647		2201	4297	6498	SO:0001630	splice_region_variant	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134212647G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.87-1G>T	11.37:g.134212647G>T							p.R29_splice	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	2	275	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)						A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Splice_Site	SNP	ENST00000535456.2	37	c.87_splice	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127430	0.37533	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.345	0.83120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLB1L2	133717857	1.000000	0.71417	0.327000	0.25402	0.007000	0.05969	6.140000	0.71738	2.529000	0.85273	0.655000	0.94253	.		PASS	0.637	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342	Intron	10	10	10	10	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247987	247987	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:247987G>T	ENST00000538872.1	+	4	1576	c.1458G>T	c.(1456-1458)cgG>cgT	p.R486R	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.R486R|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.R183R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	486					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R183R(1)|p.R486R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGCTTTCCGGGACGTCACGG	0.736																																						uc001qhw.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(547-549)CGG>CGT		IQ motif and Sec7 domain 3							36.0	33.0	34.0					12																	247987		2203	4300	6503	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247987G>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1458G>T	12.37:g.247987G>T						IQSEC3_uc001qhu.1_Silent_p.R183R|IQSEC3_uc001qht.1_Silent_p.R268R|uc001qhv.1_Intron	p.R183R	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	555	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		486					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.549G>T	CCDS53728.1																																																																																				PASS	0.736	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		7	7	7	7	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	330116	330116	+	Nonstop_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:330116A>G	ENST00000343164.4	-	15	1859	c.1807T>C	c.(1807-1809)Tag>Cag	p.*603Q	SLC6A13_ENST00000445055.2_Nonstop_Mutation_p.*511Q|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.*603Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTGCCCCCTAGCAGTGAGAC	0.677																																						uc001qic.1																			1	Nonstop extension(1)		lung(1)		0						c.(1807-1809)TAG>CAG		solute carrier family 6 (neurotransmitter							58.0	51.0	53.0					12																	330116		2203	4300	6503	SO:0001578	stop_lost	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330116A>G	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1807T>C	12.37:g.330116A>G	ENSP00000339260:p.*603Gluext*75					SLC6A13_uc009zdj.1_Nonstop_Mutation_p.*593Q|SLC6A13_uc010sdl.1_Nonstop_Mutation_p.*511Q	p.*603Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1860	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		603					B4DJL1|Q8TCC2|Q8WW56	Nonstop_Mutation	SNP	ENST00000343164.4	37	c.1807T>C	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	8.938	0.965117	0.18583	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9041	0.52701	1.0:0.0:0.0:0.0	.	.	.	.	Q	511;582;603	.	.	X	-	1	0	SLC6A13	200377	1.000000	0.71417	0.632000	0.29296	0.203000	0.24098	5.467000	0.66737	1.754000	0.51921	0.368000	0.22195	TAG		PASS	0.677	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	12	4	12	---	---	---	---
LAG3	3902	broad.mit.edu	37	12	6884475	6884475	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:6884475G>T	ENST00000203629.2	+	5	1151	c.818G>T	c.(817-819)gGa>gTa	p.G273V	LAG3_ENST00000441671.2_Missense_Mutation_p.G273V	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	273	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)	p.G273V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTGTACGCTGGAGCAGGTTCC	0.627																																						uc001qqt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GGA>GTA		lymphocyte-activation protein 3 precursor							87.0	93.0	91.0					12																	6884475		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884475G>T		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.818G>T	12.37:g.6884475G>T	ENSP00000203629:p.Gly273Val					LAG3_uc001qqs.2_Missense_Mutation_p.G273V|LAG3_uc001qqu.2_Missense_Mutation_p.G103V	p.G273V	NM_002286	NP_002277	P18627	LAG3_HUMAN			5	1167	+			273			Extracellular (Potential).|Ig-like C2-type 2.		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.818G>T	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869042	0.51588	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.11821	2.74;2.74	5.55	-0.0881	0.13674	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.604415	0.16464	N	0.213275	T	0.19366	0.0465	L	0.56769	1.78	0.28094	N	0.931702	B;D	0.60160	0.298;0.987	B;P	0.58620	0.169;0.842	T	0.18967	-1.0320	10	0.12766	T	0.61	0.2294	5.82	0.18522	0.0798:0.4814:0.3109:0.1279	.	273;273	P18627;Q7Z643	LAG3_HUMAN;.	V	273	ENSP00000413825:G273V;ENSP00000203629:G273V	ENSP00000203629:G273V	G	+	2	0	LAG3	6754736	0.863000	0.29885	0.036000	0.18154	0.899000	0.52679	0.086000	0.14935	-0.317000	0.08677	-0.521000	0.04368	GGA		PASS	0.627	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			26	58	26	58	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174863	11174863	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:11174863C>A	ENST00000390673.2	-	1	356	c.308G>T	c.(307-309)aGc>aTc	p.S103I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	103					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S103I(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACAAAATATGCTGAGGCTAGC	0.408																																						uc010shj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(307-309)AGC>ATC		taste receptor, type 2, member 19							81.0	83.0	82.0					12																	11174863		2203	4299	6502	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174863C>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.308G>T	12.37:g.11174863C>A	ENSP00000375091:p.Ser103Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.S103I	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	308	-			103			Helical; Name=3; (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.308G>T	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805174	0.50315	.	.	ENSG00000212124	ENST00000390673	T	0.52754	0.65	2.55	2.55	0.30701	.	0.295625	0.26796	U	0.022445	T	0.76572	0.4006	H	0.97365	3.99	0.28634	N	0.907534	D	0.89917	1.0	D	0.79108	0.992	T	0.73161	-0.4070	10	0.87932	D	0	.	10.8555	0.46796	0.0:1.0:0.0:0.0	.	103	P59542	T2R19_HUMAN	I	103	ENSP00000375091:S103I	ENSP00000375091:S103I	S	-	2	0	TAS2R19	11066130	0.008000	0.16893	0.203000	0.23512	0.183000	0.23260	0.616000	0.24344	1.442000	0.47568	0.194000	0.17425	AGC		PASS	0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		24	72	24	72	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546701	11546701	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:11546701T>A	ENST00000389362.4	-	3	346	c.311A>T	c.(310-312)cAa>cTa	p.Q104L	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	104	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.Q83L(1)|p.Q104L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTCTCCTTGTGGGGGTGG	0.617																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(310-312)CAA>CTA		proline-rich protein BstNI subfamily 2							285.0	309.0	301.0					12																	11546701		2203	4300	6503	SO:0001583	missense	653247							g.chr12:11546701T>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.311A>T	12.37:g.11546701T>A	ENSP00000374013:p.Gln104Leu						p.Q104L	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	346	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.311A>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.055	-1.238081	0.01493	.	.	ENSG00000121335	ENST00000389362	T	0.06528	3.29	1.0	1.0	0.19881	.	.	.	.	.	T	0.05823	0.0152	M	0.73962	2.25	0.09310	N	1	P	0.46020	0.871	B	0.34722	0.188	T	0.31916	-0.9926	9	0.11485	T	0.65	.	4.2927	0.10886	0.0:0.0:0.352:0.648	.	104	P02812	PRB2_HUMAN	L	104	ENSP00000374013:Q104L	ENSP00000374013:Q104L	Q	-	2	0	PRB2	11437968	0.005000	0.15991	0.002000	0.10522	0.038000	0.13279	0.237000	0.17985	0.455000	0.26910	0.000000	0.15137	CAA		PASS	0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		9	450	9	450	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21069129	21069129	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:21069129C>G	ENST00000381545.3	+	16	2276	c.2057C>G	c.(2056-2058)aCa>aGa	p.T686R	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T686R|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	686					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.T686R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCTGCTGGAACAGATAGTAAA	0.353																																						uc001rek.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2056-2058)ACA>AGA		solute carrier organic anion transporter family,							97.0	95.0	96.0					12																	21069129		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069129C>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.2057C>G	12.37:g.21069129C>G	ENSP00000370956:p.Thr686Arg					SLCO1B3_uc001rel.2_Missense_Mutation_p.T686R|SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	p.T686R	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			15	2183	+	Esophageal squamous(101;0.149)		686			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.2057C>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	2.441	-0.328559	0.05314	.	.	ENSG00000111700	ENST00000261196;ENST00000381545	T;T	0.36340	1.26;1.26	3.48	-6.29	0.02013	.	8.768500	0.00741	N	0.001012	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.12993	-1.0526	10	0.16420	T	0.52	.	3.4334	0.07437	0.4504:0.2412:0.0:0.3084	.	686	Q9NPD5	SO1B3_HUMAN	R	686	ENSP00000261196:T686R;ENSP00000370956:T686R	ENSP00000261196:T686R	T	+	2	0	SLCO1B3	20960396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.589000	0.02104	-1.836000	0.01190	-0.397000	0.06425	ACA		PASS	0.353	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		13	29	13	29	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26775186	26775186	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:26775186T>C	ENST00000381340.3	-	25	3691	c.3275A>G	c.(3274-3276)cAg>cGg	p.Q1092R	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1092					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.Q1092R(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTAAATGCCTGTAAAACCTC	0.488																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(3274-3276)CAG>CGG		inositol 1,4,5-triphosphate receptor, type 2							107.0	103.0	104.0					12																	26775186		1907	4124	6031	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26775186T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3275A>G	12.37:g.26775186T>C	ENSP00000370744:p.Gln1092Arg						p.Q1092R	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			25	3692	-	Colorectal(261;0.0847)		1092			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3275A>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705564	0.68615	.	.	ENSG00000123104	ENST00000381340	D	0.91996	-2.95	5.25	5.25	0.73442	.	0.057667	0.64402	D	0.000001	D	0.91938	0.7447	M	0.80183	2.485	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	D	0.89713	0.3913	10	0.48119	T	0.1	.	15.3369	0.74263	0.0:0.0:0.0:1.0	.	1092	Q14571	ITPR2_HUMAN	R	1092	ENSP00000370744:Q1092R	ENSP00000370744:Q1092R	Q	-	2	0	ITPR2	26666453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.855000	0.62925	2.204000	0.70986	0.528000	0.53228	CAG		PASS	0.488	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		3	42	3	42	---	---	---	---
CCDC91	55297	broad.mit.edu	37	12	28515395	28515395	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:28515395G>T	ENST00000545336.1	+	10	1020	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	CCDC91_ENST00000539107.1_Missense_Mutation_p.D201Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D201Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.D201Y|CCDC91_ENST00000306172.5_Missense_Mutation_p.D171Y			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	201					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D201Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AGAATTGGAAGACATGAGGAA	0.318																																						uc001riq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(601-603)GAC>TAC		GGA binding partner							94.0	99.0	97.0					12																	28515395		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28515395G>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.601G>T	12.37:g.28515395G>T	ENSP00000438040:p.Asp201Tyr					CCDC91_uc001rio.2_Missense_Mutation_p.D171Y|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.D201Y|CCDC91_uc001rir.2_Missense_Mutation_p.D39Y|CCDC91_uc009zjl.2_Missense_Mutation_p.D39Y	p.D201Y	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			6	617	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		201			Potential.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.601G>T	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.911969	0.72983	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.44083	0.93;1.07;1.11;1.08;1.11;0.93;1.08	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	T	0.52338	0.1728	L	0.27053	0.805	0.37385	D	0.91219	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.60120	-0.7325	10	0.87932	D	0	-15.2073	15.1624	0.72795	0.0:0.0:1.0:0.0	.	201;201;171	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2	.;CCD91_HUMAN;.	Y	201;201;201;201;201;201;171	ENSP00000440513:D201Y;ENSP00000445660:D201Y;ENSP00000438040:D201Y;ENSP00000442544:D201Y;ENSP00000370658:D201Y;ENSP00000370655:D201Y;ENSP00000305075:D171Y	ENSP00000305075:D171Y	D	+	1	0	CCDC91	28406662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.580000	0.67464	2.637000	0.89404	0.585000	0.79938	GAC		PASS	0.318	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		6	4	6	4	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	39967558	39967558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:39967558C>A	ENST00000308666.3	-	9	2098	c.1963G>T	c.(1963-1965)Gga>Tga	p.G655*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	655	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.G655*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGGAAATTCCAGCCCCTTTT	0.368																																						uc001rmb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1963-1965)GGA>TGA		ATP-binding cassette, sub-family D, member 2							123.0	110.0	114.0					12																	39967558		2203	4300	6503	SO:0001587	stop_gained	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39967558C>A	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1963G>T	12.37:g.39967558C>A	ENSP00000310688:p.Gly655*						p.G655*	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			9	2389	-			655			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Nonsense_Mutation	SNP	ENST00000308666.3	37	c.1963G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	40	8.416573	0.98801	.	.	ENSG00000173208	ENST00000308666	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2232	18.7232	0.91703	0.0:1.0:0.0:0.0	.	.	.	.	X	655	.	.	G	-	1	0	ABCD2	38253825	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.668000	0.83897	2.482000	0.83794	0.563000	0.77884	GGA		PASS	0.368	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		10	67	10	67	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41318436	41318436	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:41318436C>A	ENST00000551295.2	+	6	595	c.478C>A	c.(478-480)Ccc>Acc	p.P160T	CNTN1_ENST00000348761.2_Missense_Mutation_p.P149T|CNTN1_ENST00000360099.3_Missense_Mutation_p.P160T|CNTN1_ENST00000547849.1_Missense_Mutation_p.P160T|CNTN1_ENST00000547702.1_Missense_Mutation_p.P160T|CNTN1_ENST00000347616.1_Missense_Mutation_p.P160T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	160	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P160T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCTCTGTGACCCCCCATACCA	0.383																																						uc001rmm.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(478-480)CCC>ACC		contactin 1 isoform 1 precursor							121.0	102.0	109.0					12																	41318436		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41318436C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.478C>A	12.37:g.41318436C>A	ENSP00000447006:p.Pro160Thr					CNTN1_uc009zjy.1_Missense_Mutation_p.P160T|CNTN1_uc001rmn.1_Missense_Mutation_p.P149T|CNTN1_uc001rmo.2_Missense_Mutation_p.P160T	p.P160T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			6	591	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	160			Ig-like C2-type 2.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.478C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376048	0.82682	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.04678	-1.0934	10	0.66056	D	0.02	.	20.3075	0.98634	0.0:1.0:0.0:0.0	.	160;149;160	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	T	160;160;160;160;160;149	ENSP00000448004:P160T;ENSP00000447006:P160T;ENSP00000448653:P160T;ENSP00000325660:P160T;ENSP00000353213:P160T;ENSP00000261160:P149T	ENSP00000325660:P160T	P	+	1	0	CNTN1	39604703	1.000000	0.71417	0.938000	0.37757	0.909000	0.53808	5.089000	0.64492	2.880000	0.98712	0.650000	0.86243	CCC		PASS	0.383	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		8	28	8	28	---	---	---	---
RPAP3	79657	broad.mit.edu	37	12	48090107	48090107	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:48090107T>G	ENST00000005386.3	-	5	612	c.497A>C	c.(496-498)aAt>aCt	p.N166T	RPAP3_ENST00000380650.4_Missense_Mutation_p.N166T|RPAP3_ENST00000432584.3_Missense_Mutation_p.N7T	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	166								p.N166T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					CAACACGGGATTATATGGATC	0.358																																						uc001rpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)AAT>ACT		RNA polymerase II associated protein 3 isoform							159.0	140.0	147.0					12																	48090107		2203	4300	6503	SO:0001583	missense	79657						binding	g.chr12:48090107T>G	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.497A>C	12.37:g.48090107T>G	ENSP00000005386:p.Asn166Thr					RPAP3_uc010slk.1_Missense_Mutation_p.N7T|RPAP3_uc001rps.2_Missense_Mutation_p.N166T	p.N166T	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN			5	613	-	Lung SC(27;0.192)		166			TPR 2.		B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	c.497A>C	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742767	0.69418	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.61274	0.12;2.38;0.12	6.02	6.02	0.97574	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.047856	0.85682	D	0.000000	T	0.75591	0.3870	M	0.76170	2.325	0.54753	D	0.999984	D;D	0.76494	0.999;0.994	D;D	0.73708	0.981;0.98	T	0.77247	-0.2658	10	0.54805	T	0.06	.	15.7232	0.77732	0.0:0.0:0.0:1.0	.	166;166	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	T	166;7;166	ENSP00000005386:N166T;ENSP00000401823:N7T;ENSP00000370024:N166T	ENSP00000005386:N166T	N	-	2	0	RPAP3	46376374	1.000000	0.71417	0.975000	0.42487	0.184000	0.23303	5.910000	0.69931	2.304000	0.77564	0.528000	0.53228	AAT		PASS	0.358	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		17	50	17	50	---	---	---	---
KANSL2	54934	broad.mit.edu	37	12	49048286	49048286	+	Intron	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:49048286C>T	ENST00000420613.2	-	10	1395				KANSL2_ENST00000548701.1_Intron|SNORA34_ENST00000408564.2_RNA|KANSL2_ENST00000553086.1_Intron|SNORA2A_ENST00000383885.1_RNA|KANSL2_ENST00000550347.1_Intron	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AACTGCTGGTCTTCAGTCAGG	0.478																																						hsa-mir-1291|MI0006353																			0					0															66.0	57.0	60.0					12																	49048286		1568	3582	5150	SO:0001627	intron_variant	100302221							g.chr12:49048286C>T	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1348-328G>A	12.37:g.49048286C>T						C12orf41_uc001rrw.2_Intron|C12orf41_uc001rrz.2_Intron|C12orf41_uc001rrx.2_Intron|C12orf41_uc001rry.2_Intron|C12orf41_uc001rru.2_Intron|C12orf41_uc001rrv.2_Intron|SNORA34_uc001rsa.1_RNA										-								Q8N3B5|Q96CV0|Q9NX51	RNA	SNP	ENST00000420613.2	37	c.28C>T	CCDS44869.1																																																																																				PASS	0.478	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		7	29	7	29	---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49952448	49952448	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:49952448G>T	ENST00000550165.1	-	16	1633	c.1367C>A	c.(1366-1368)gCt>gAt	p.A456D	MCRS1_ENST00000357123.4_Missense_Mutation_p.A469D|MCRS1_ENST00000343810.4_Missense_Mutation_p.A456D|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000546244.1_Missense_Mutation_p.A265D			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	456					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A469D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GATCTTGGCAGCCTCAGCCCT	0.602																																						uc001ruk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1366-1368)GCT>GAT		microspherule protein 1 isoform 1							82.0	72.0	75.0					12																	49952448		2203	4300	6503	SO:0001583	missense	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49952448G>T	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.1367C>A	12.37:g.49952448G>T	ENSP00000448056:p.Ala456Asp					MCRS1_uc001rui.1_Missense_Mutation_p.A469D|MCRS1_uc001ruj.1_Missense_Mutation_p.A443D|MCRS1_uc001rul.1_Missense_Mutation_p.A456D|MCRS1_uc009zlj.1_Missense_Mutation_p.A265D|MCRS1_uc001rum.1_Missense_Mutation_p.A443D	p.A456D	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN			15	1558	-			456					O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	c.1367C>A	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819102	0.90873	.	.	ENSG00000187778	ENST00000546244;ENST00000343810;ENST00000550165;ENST00000357123	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.66716	0.946;0.91	T	0.79266	-0.1874	9	0.72032	D	0.01	-15.1894	16.444	0.83910	0.0:0.0:1.0:0.0	.	456;469	Q96EZ8;Q96EZ8-2	MCRS1_HUMAN;.	D	265;456;456;469	.	ENSP00000345358:A456D	A	-	2	0	MCRS1	48238715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.020000	0.93667	2.755000	0.94549	0.655000	0.94253	GCT		PASS	0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		22	30	22	30	---	---	---	---
KRT3	3850	broad.mit.edu	37	12	53189723	53189723	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:53189723G>T	ENST00000417996.2	-	1	178	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	KRT3_ENST00000309505.3_Missense_Mutation_p.S35Y	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	35	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S35Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGCTCCCCCAGAGTGGGCCAC	0.647																																						uc001say.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TCT>TAT		keratin 3							38.0	49.0	45.0					12																	53189723		2203	4299	6502	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189723G>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.104C>A	12.37:g.53189723G>T	ENSP00000413479:p.Ser35Tyr						p.S35Y	NM_057088	NP_476429	P12035	K2C3_HUMAN			1	170	-			35			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.104C>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630381	0.14322	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91124	-2.79;-2.79	5.16	4.27	0.50696	.	0.336217	0.21869	N	0.067912	D	0.90249	0.6951	M	0.83852	2.665	0.09310	N	1	P	0.48407	0.91	B	0.40534	0.332	D	0.85024	0.0913	10	0.72032	D	0.01	.	11.8017	0.52130	0.0862:0.0:0.9138:0.0	.	35	P12035	K2C3_HUMAN	Y	35	ENSP00000413479:S35Y;ENSP00000312206:S35Y	ENSP00000312206:S35Y	S	-	2	0	KRT3	51475990	0.098000	0.21812	0.003000	0.11579	0.016000	0.09150	-0.659000	0.05323	1.318000	0.45170	0.555000	0.69702	TCT		PASS	0.647	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		10	25	10	25	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53410353	53410353	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:53410353C>A	ENST00000262056.9	+	2	436	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.P37Q|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.P37Q|RP11-983P16.2_ENST00000435621.3_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.P37Q(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GTTTCCAAACCAGTCAGCTGG	0.423																																						uc001sbh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(109-111)CCA>CAA		eukaryotic translation initiation factor 4B							127.0	123.0	125.0					12																	53410353		1841	4090	5931	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53410353C>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.110C>A	12.37:g.53410353C>A	ENSP00000262056:p.Pro37Gln					EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.P37Q|EIF4B_uc010snv.1_Missense_Mutation_p.P37Q|EIF4B_uc001sbi.2_5'UTR	p.P37Q	NM_001417	NP_001408	P23588	IF4B_HUMAN			2	316	+			37					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.110C>A	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451717	0.43531	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43	4.65	4.65	0.58169	.	0.116356	0.64402	D	0.000015	D	0.95968	0.8687	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.991;0.991	D;P;P	0.63877	0.919;0.831;0.831	D	0.96374	0.9276	10	0.72032	D	0.01	.	16.9794	0.86323	0.0:1.0:0.0:0.0	.	37;37;37	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	Q	37	ENSP00000262056:P37Q;ENSP00000388806:P37Q;ENSP00000412530:P37Q;ENSP00000449746:P37Q;ENSP00000450324:P37Q	ENSP00000262056:P37Q	P	+	2	0	EIF4B	51696620	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.559000	0.82265	2.511000	0.84671	0.561000	0.74099	CCA		PASS	0.423	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		7	54	7	54	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421039	55421039	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:55421039C>A	ENST00000242994.3	+	2	1194	c.816C>A	c.(814-816)gaC>gaA	p.D272E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	272					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D272E(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGTCTCCTGACCTAGAAAAAT	0.522																																						uc001sgp.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(814-816)GAC>GAA		neurogenic differentiation 4							168.0	162.0	164.0					12																	55421039		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421039C>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.816C>A	12.37:g.55421039C>A	ENSP00000242994:p.Asp272Glu						p.D272E	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	1194	+			272					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.816C>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756589	0.15846	.	.	ENSG00000123307	ENST00000242994	D	0.95272	-3.66	5.85	0.855	0.19013	.	0.145674	0.64402	D	0.000011	D	0.87128	0.6100	L	0.37561	1.115	0.37683	D	0.923566	B	0.12013	0.005	B	0.11329	0.006	T	0.74509	-0.3642	10	0.12766	T	0.61	0.053	5.3075	0.15811	0.0:0.48:0.1362:0.3838	.	272	Q9HD90	NDF4_HUMAN	E	272	ENSP00000242994:D272E	ENSP00000242994:D272E	D	+	3	2	NEUROD4	53707306	0.001000	0.12720	0.999000	0.59377	0.994000	0.84299	-1.083000	0.03397	0.168000	0.19655	0.655000	0.94253	GAC		PASS	0.522	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			41	146	41	146	---	---	---	---
OR10P1	121130	broad.mit.edu	37	12	56031355	56031355	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:56031355T>C	ENST00000309675.2	+	1	712	c.680T>C	c.(679-681)cTa>cCa	p.L227P	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L227P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGTGCCATCCTAGCAATGGCC	0.552																																						uc010spq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(679-681)CTA>CCA		olfactory receptor, family 10, subfamily P,							113.0	96.0	101.0					12																	56031355		2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031355T>C	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.680T>C	12.37:g.56031355T>C	ENSP00000308082:p.Leu227Pro						p.L227P	NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN			1	680	+			227			Cytoplasmic (Potential).		B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.680T>C	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	T	8.731	0.916573	0.17907	.	.	ENSG00000175398	ENST00000309675	T	0.00321	8.11	4.15	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35151	N	0.003408	T	0.01156	0.0038	H	0.99104	4.43	0.19945	N	0.999942	D	0.89917	1.0	D	0.80764	0.994	T	0.32241	-0.9914	10	0.87932	D	0	.	8.0516	0.30581	0.0:0.1003:0.0:0.8997	.	227	Q8NGE3	O10P1_HUMAN	P	227	ENSP00000308082:L227P	ENSP00000308082:L227P	L	+	2	0	OR10P1	54317622	0.007000	0.16637	0.384000	0.26145	0.002000	0.02628	1.304000	0.33482	0.746000	0.32786	0.459000	0.35465	CTA		PASS	0.552	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			19	53	19	53	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57957891	57957891	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:57957891G>T	ENST00000455537.2	+	4	566	c.292G>T	c.(292-294)Gga>Tga	p.G98*	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	98	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.G98*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CACTCGCCAGGGAAAGCTGCA	0.488																																						uc001sor.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(292-294)GGA>TGA		kinesin family member 5A							78.0	66.0	70.0					12																	57957891		2203	4300	6503	SO:0001630	splice_region_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957891G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.292-1G>T	12.37:g.57957891G>T						KIF5A_uc010srr.1_Intron	p.G98*	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			4	500	+			98			Kinesin-motor.		A6H8M5|Q4LE26	Nonsense_Mutation	SNP	ENST00000455537.2	37	c.292G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	39	7.364041	0.98238	.	.	ENSG00000155980	ENST00000455537	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	.	G	+	1	0	KIF5A	56244158	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.431000	0.97494	2.691000	0.91804	0.655000	0.94253	GGA		PASS	0.488	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	Nonsense_Mutation	4	33	4	33	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700314	67700314	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:67700314G>C	ENST00000545606.1	+	10	3303	c.2866G>C	c.(2866-2868)Gga>Cga	p.G956R		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	956					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.G956R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAATGTCTAGGAAAACTCAC	0.393																																						uc001stn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2866-2868)GGA>CGA		TIP120 protein							95.0	97.0	97.0					12																	67700314		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700314G>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2866G>C	12.37:g.67700314G>C	ENSP00000442318:p.Gly956Arg					CAND1_uc001sto.2_Missense_Mutation_p.G466R	p.G956R	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3303	+			956			HEAT 22.		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2866G>C	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814473	0.70912	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.56611	0.45;0.45	5.76	5.76	0.90799	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86183	0.1607	9	.	.	.	-12.5374	19.9635	0.97259	0.0:0.0:1.0:0.0	.	788;956	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	R	956;956;496	ENSP00000442318:G956R;ENSP00000444089:G496R	.	G	+	1	0	CAND1	65986581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.788000	0.99064	2.714000	0.92807	0.591000	0.81541	GGA		PASS	0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		17	35	17	35	---	---	---	---
RAB3IP	117177	broad.mit.edu	37	12	70150440	70150440	+	Missense_Mutation	SNP	G	G	T	rs370305587		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:70150440G>T	ENST00000247833.7	+	3	883	c.507G>T	c.(505-507)caG>caT	p.Q169H	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.Q169H|RAB3IP_ENST00000362025.5_Missense_Mutation_p.Q185H|RAB3IP_ENST00000550536.1_Missense_Mutation_p.Q185H|RAB3IP_ENST00000378815.6_Missense_Mutation_p.Q169H					RAB3A interacting protein									p.Q185H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAAAAGCTCAGAGGGTAAGAA	0.373																																						uc001svp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)CAG>CAT		RAB3A interacting protein isoform alpha 2							76.0	75.0	76.0					12																	70150440		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70150440G>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.507G>T	12.37:g.70150440G>T	ENSP00000247833:p.Gln169His					RAB3IP_uc001svl.1_Missense_Mutation_p.Q169H|RAB3IP_uc001svm.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svn.2_Missense_Mutation_p.Q169H|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.Q185H|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	p.Q185H	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		3	1002	+	Esophageal squamous(21;0.187)		185			Potential.			Missense_Mutation	SNP	ENST00000247833.7	37	c.555G>T	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.399871|3.399871	0.62177|0.62177	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000550647|ENST00000247833;ENST00000378815;ENST00000483530;ENST00000550536;ENST00000362025;ENST00000547055	.|T;T;T;T;T;T	.|0.47528	.|0.84;0.96;0.84;0.84;0.84;0.84	5.82|5.82	4.0|4.0	0.46444|0.46444	.|.	.|0.102974	.|0.64402	.|D	.|0.000001	.|T	.|0.52256	.|0.1723	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.67145	.|0.996;0.976;0.996;0.993	.|D;P;D;P	.|0.68621	.|0.959;0.459;0.959;0.858	.|T	.|0.43180	.|-0.9407	.|10	.|0.30854	.|T	.|0.27	.|.	10.054|10.054	0.42233|0.42233	0.2058:0.0:0.7942:0.0|0.2058:0.0:0.7942:0.0	.|.	.|185;185;169;169	.|Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.|.;RAB3I_HUMAN;.;.	X|H	59|169;169;169;185;185;46	.|ENSP00000247833:Q169H;ENSP00000368092:Q169H;ENSP00000419216:Q169H;ENSP00000447300:Q185H;ENSP00000355381:Q185H;ENSP00000448688:Q46H	.|ENSP00000247833:Q169H	E|Q	+|+	1|3	0|2	RAB3IP|RAB3IP	68436707|68436707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.343000|1.343000	0.33930|0.33930	0.807000|0.807000	0.34208|0.34208	0.655000|0.655000	0.94253|0.94253	GAG|CAG		PASS	0.373	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		8	57	8	57	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71833879	71833879	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:71833879G>C	ENST00000266674.5	+	1	330	c.19G>C	c.(19-21)Ggt>Cgt	p.G7R	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000536515.1_Missense_Mutation_p.G7R|LGR5_ENST00000540815.2_Missense_Mutation_p.G7R			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	7					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.G7R(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCCGGCTCGGTGTGCTCCT	0.711																																						uc001swl.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(19-21)GGT>CGT		leucine-rich repeat-containing G protein-coupled							45.0	42.0	43.0					12																	71833879		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71833879G>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.19G>C	12.37:g.71833879G>C	ENSP00000266674:p.Gly7Arg					TSPAN8_uc001swk.1_Intron|LGR5_uc001swm.2_Missense_Mutation_p.G7R|LGR5_uc001swn.1_RNA	p.G7R	NM_003667	NP_003658	O75473	LGR5_HUMAN			1	67	+			7					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.19G>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636999	0.29157	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57273	0.44;0.41;0.54	4.24	-0.179	0.13299	.	1.086990	0.07090	N	0.838597	T	0.27866	0.0686	N	0.08118	0	0.23003	N	0.998444	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.17961	-1.0352	10	0.44086	T	0.13	.	2.3216	0.04212	0.1637:0.2938:0.4014:0.1411	.	7;7	O75473-2;O75473	.;LGR5_HUMAN	R	7	ENSP00000266674:G7R;ENSP00000443033:G7R;ENSP00000441035:G7R	ENSP00000266674:G7R	G	+	1	0	LGR5	70120146	0.000000	0.05858	0.508000	0.27688	0.865000	0.49528	-0.128000	0.10531	0.030000	0.15379	-0.311000	0.09066	GGT		PASS	0.711	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		4	9	4	9	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72893378	72893378	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:72893378A>T	ENST00000261180.4	+	6	1646	c.1550A>T	c.(1549-1551)gAt>gTt	p.D517V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	517					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D517V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGGCAACAGATATTGACAGG	0.423																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1549-1551)GAT>GTT		thyrotropin-releasing hormone degrading enzyme							156.0	130.0	139.0					12																	72893378		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72893378A>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1550A>T	12.37:g.72893378A>T	ENSP00000261180:p.Asp517Val						p.D517V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			6	1580	+			517			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1550A>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626773	0.87560	.	.	ENSG00000072657	ENST00000261180	T	0.02944	4.1	5.46	5.46	0.80206	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00283	-1.1849	10	0.87932	D	0	.	15.5278	0.75925	1.0:0.0:0.0:0.0	.	517	Q9UKU6	TRHDE_HUMAN	V	517	ENSP00000261180:D517V	ENSP00000261180:D517V	D	+	2	0	TRHDE	71179645	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.265000	0.95647	2.068000	0.61886	0.528000	0.53228	GAT		PASS	0.423	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	17	11	17	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78513023	78513023	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:78513023C>A	ENST00000397909.2	+	15	3220	c.3047C>A	c.(3046-3048)aCc>aAc	p.T1016N	NAV3_ENST00000536525.2_Missense_Mutation_p.T1016N|NAV3_ENST00000228327.6_Missense_Mutation_p.T1016N|NAV3_ENST00000266692.7_Missense_Mutation_p.T1016N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1016						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1016N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTAGGGAAAACCGATGATGCC	0.388										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3046-3048)ACC>AAC		neuron navigator 3							116.0	110.0	111.0					12																	78513023		1851	4098	5949	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513023C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3047C>A	12.37:g.78513023C>A	ENSP00000381007:p.Thr1016Asn	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T1016N|NAV3_uc010sub.1_Missense_Mutation_p.T516N|NAV3_uc009zsf.2_Missense_Mutation_p.T24N	p.T1016N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3220	+			1016					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3047C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.506789|4.506789	0.85282|0.85282	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.32023	.|1.47;1.47;1.47;1.47	6.0|6.0	6.0|6.0	0.97389|0.97389	.|.	.|0.000000	.|0.41294	.|U	.|0.000917	T|T	0.57710|0.57710	0.2072|0.2072	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.928;1.0;1.0;1.0	.|P;D;D;D	.|0.87578	.|0.831;0.998;0.997;0.997	T|T	0.54043|0.54043	-0.8352|-0.8352	5|10	.|0.56958	.|D	.|0.05	-20.3248|-20.3248	20.483|20.483	0.99199|0.99199	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1016;1016;1016;1016	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	K|N	87|1016	.|ENSP00000446132:T1016N;ENSP00000381007:T1016N;ENSP00000228327:T1016N;ENSP00000266692:T1016N	.|ENSP00000228327:T1016N	N|T	+|+	3|2	2|0	NAV3|NAV3	77037154|77037154	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.940000|0.940000	0.58332|0.58332	7.590000|7.590000	0.82653|0.82653	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	AAC|ACC		PASS	0.388	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		29	94	29	94	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81112685	81112685	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:81112685C>G	ENST00000228644.3	+	3	775	c.623C>G	c.(622-624)tCc>tGc	p.S208C		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	208					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S208C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GATTGCTTATCCAACATAGTG	0.453																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)TCC>TGC		myogenic factor 5							108.0	108.0	108.0					12																	81112685		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112685C>G		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.623C>G	12.37:g.81112685C>G	ENSP00000228644:p.Ser208Cys						p.S208C	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	758	+			208					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.623C>G	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625718	0.87560	.	.	ENSG00000111049	ENST00000228644	D	0.99311	-5.73	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98645	1.0677	10	0.87932	D	0	-17.6747	19.3923	0.94587	0.0:1.0:0.0:0.0	.	208	P13349	MYF5_HUMAN	C	208	ENSP00000228644:S208C	ENSP00000228644:S208C	S	+	2	0	MYF5	79636816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.725000	0.74752	2.882000	0.98803	0.655000	0.94253	TCC		PASS	0.453	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		18	53	18	53	---	---	---	---
SLC6A15	55117	broad.mit.edu	37	12	85255584	85255584	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:85255584T>A	ENST00000266682.5	-	12	2561	c.2020A>T	c.(2020-2022)Aca>Tca	p.T674S	SLC6A15_ENST00000552192.1_Missense_Mutation_p.T567S|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	674					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.T674S(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAGGCTTGTATCATCGCCC	0.423																																						uc001szv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(2020-2022)ACA>TCA		solute carrier family 6, member 15 isoform 1							128.0	125.0	126.0					12																	85255584		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255584T>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.2020A>T	12.37:g.85255584T>A	ENSP00000266682:p.Thr674Ser					SLC6A15_uc010sul.1_Missense_Mutation_p.T567S|SLC6A15_uc001szw.1_3'UTR	p.T674S	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			12	2513	-			674			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.2020A>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835286	0.32421	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000548267	T;T	0.74737	-0.68;-0.87	5.85	4.02	0.46733	.	0.372090	0.32753	N	0.005684	T	0.56381	0.1981	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42749	-0.9433	10	0.11794	T	0.64	.	8.5472	0.33429	0.0:0.7035:0.0:0.2965	.	674	Q9H2J7	S6A15_HUMAN	S	674;567;152	ENSP00000266682:T674S;ENSP00000450145:T567S	ENSP00000266682:T674S	T	-	1	0	SLC6A15	83779715	0.046000	0.20272	0.993000	0.49108	0.921000	0.55340	0.011000	0.13264	0.784000	0.33661	-0.242000	0.12053	ACA		PASS	0.423	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		18	60	18	60	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85674127	85674127	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:85674127C>T	ENST00000316824.3	+	1	243	c.88C>T	c.(88-90)Cac>Tac	p.H30Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	30					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H30Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCCTCTGGAGCACGTTATGGA	0.552																																						uc001tae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(88-90)CAC>TAC		cartilage paired-class homeoprotein 1							68.0	67.0	67.0					12																	85674127		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674127C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.88C>T	12.37:g.85674127C>T	ENSP00000315417:p.His30Tyr						p.H30Y	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	92	+			30					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.88C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602560	0.66445	.	.	ENSG00000180318	ENST00000316824	D	0.92752	-3.1	5.48	5.48	0.80851	.	0.188987	0.64402	D	0.000020	D	0.85159	0.5633	N	0.14661	0.345	0.58432	D	0.999996	P	0.39282	0.666	B	0.32090	0.14	D	0.87183	0.2229	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:1.0:0.0:0.0	.	30	Q15699	ALX1_HUMAN	Y	30	ENSP00000315417:H30Y	ENSP00000315417:H30Y	H	+	1	0	ALX1	84198258	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.076000	0.76806	2.562000	0.86427	0.650000	0.86243	CAC		PASS	0.552	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		9	56	9	56	---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98989309	98989309	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:98989309C>A	ENST00000228318.3	+	3	376	c.256C>A	c.(256-258)Cta>Ata	p.L86I	SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L86I|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000552981.1_Intron	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	86					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.L86I(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ATTGGTTCCTCTAGATCTGGT	0.398																																						uc001tfo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(256-258)CTA>ATA		solute carrier family 25 member 3 isoform a							203.0	182.0	189.0					12																	98989309		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98989309C>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.256C>A	12.37:g.98989309C>A	ENSP00000228318:p.Leu86Ile					SLC25A3_uc001tfm.2_Intron|SLC25A3_uc001tfn.2_Intron|SLC25A3_uc001tfp.2_Intron|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.L86I|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Intron|SLC25A3_uc001tft.2_Intron	p.L86I	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	3	376	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	86			Helical; Name=1; (Potential).|Solcar 1.		B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.256C>A	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715601	0.89112	.	.	ENSG00000075415	ENST00000228318;ENST00000551917;ENST00000548046;ENST00000550695	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.27	5.27	0.74061	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	M	0.66378	2.025	0.80722	D	1	D	0.65815	0.995	P	0.61477	0.889	D	0.88664	0.3191	10	0.62326	D	0.03	-10.0817	12.2578	0.54633	0.0:0.9223:0.0:0.0777	.	86	Q00325	MPCP_HUMAN	I	86	ENSP00000228318:L86I;ENSP00000447310:L86I;ENSP00000447339:L86I;ENSP00000449479:L86I	ENSP00000228318:L86I	L	+	1	2	SLC25A3	97513440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.064000	0.57506	2.467000	0.83353	0.655000	0.94253	CTA		PASS	0.398	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		5	67	5	67	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100732317	100732317	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:100732317G>A	ENST00000360820.2	+	18	2594	c.2157G>A	c.(2155-2157)ttG>ttA	p.L719L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	719	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.L723L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CTAAGGACTTGACAGACACAC	0.323																																						uc001thn.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2155-2157)TTG>TTA		SCY1-like 2 protein							106.0	101.0	102.0					12																	100732317		2203	4300	6503	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732317G>A	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2157G>A	12.37:g.100732317G>A							p.L719L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			18	2207	+			719			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.2157G>A	CCDS9076.1																																																																																				PASS	0.323	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		17	35	17	35	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100806574	100806574	+	Missense_Mutation	SNP	C	C	A	rs138338989		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:100806574C>A	ENST00000323346.5	+	10	1526	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L355M	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	405					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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.L405M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AACCTTACTCCTGGTGGTTGG	0.423																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1213-1215)CTG>ATG		solute carrier family 17 (sodium-dependent							257.0	228.0	238.0					12																	100806574		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100806574C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1213C>A	12.37:g.100806574C>A	ENSP00000316909:p.Leu405Met					SLC17A8_uc009ztx.2_Missense_Mutation_p.L355M	p.L405M	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			10	1526	+			405			Helical; (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1213C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440491	0.63067	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.63096	0.26;-0.02	6.03	2.89	0.33648	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.70842	2.15	0.58432	D	0.999995	P;D	0.69078	0.944;0.997	P;D	0.69142	0.85;0.962	T	0.70368	-0.4891	10	0.49607	T	0.09	.	6.8271	0.23889	0.0:0.5965:0.0:0.4035	.	405;355	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	M	405;355	ENSP00000316909:L405M;ENSP00000376715:L355M	ENSP00000316909:L405M	L	+	1	2	SLC17A8	99330705	0.944000	0.32072	1.000000	0.80357	0.999000	0.98932	0.437000	0.21543	0.883000	0.36040	0.655000	0.94253	CTG		PASS	0.423	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		11	53	11	53	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102468805	102468805	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:102468805G>T	ENST00000552283.1	-	9	980	c.841C>A	c.(841-843)Caa>Aaa	p.Q281K	NUP37_ENST00000251074.1_Missense_Mutation_p.Q281K|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	281					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.Q281K(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TGATGAATTTGAAACTGGCTT	0.348																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)CAA>AAA		nucleoporin 37kDa							89.0	82.0	85.0					12																	102468805		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102468805G>T	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.841C>A	12.37:g.102468805G>T	ENSP00000448054:p.Gln281Lys						p.Q281K	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			8	906	-			281					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.841C>A	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	G	6.867	0.529255	0.13127	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.27720	1.65;1.65;2.82	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.235802	0.44688	D	0.000436	T	0.09512	0.0234	N	0.00621	-1.32	0.34744	D	0.731104	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	10	0.05959	T	0.93	-11.7551	14.9951	0.71425	0.0:0.1422:0.8578:0.0	.	281	Q8NFH4	NUP37_HUMAN	K	281;281;190	ENSP00000448054:Q281K;ENSP00000251074:Q281K;ENSP00000448086:Q190K	ENSP00000251074:Q281K	Q	-	1	0	NUP37	100992935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.076000	0.57591	2.695000	0.91970	0.561000	0.74099	CAA		PASS	0.348	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		15	26	15	26	---	---	---	---
RNFT2	84900	broad.mit.edu	37	12	117287248	117287248	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:117287248T>C	ENST00000257575.4	+	11	1563	c.1330T>C	c.(1330-1332)Tac>Cac	p.Y444H	RNFT2_ENST00000392549.2_Missense_Mutation_p.Y444H|RNFT2_ENST00000407967.3_Intron|RNFT2_ENST00000551251.1_Intron|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	444						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Y444H(1)		endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CTTCCAGGTGTACTAGGACCG	0.667																																						uc009zwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)TAC>CAC		transmembrane protein 118 isoform 1							17.0	20.0	19.0					12																	117287248		2117	4210	6327	SO:0001583	missense	84900					integral to membrane	zinc ion binding	g.chr12:117287248T>C	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.1330T>C	12.37:g.117287248T>C	ENSP00000257575:p.Tyr444His					RNFT2_uc001twb.3_Intron|RNFT2_uc001twa.3_Intron|RNFT2_uc001twc.3_Missense_Mutation_p.Y192H|RNFT2_uc001twd.2_5'Flank	p.Y444H	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	11	1563	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		444			Extracellular (Potential).		E9PAM7|Q96SU5	Missense_Mutation	SNP	ENST00000257575.4	37	c.1330T>C	CCDS44987.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378595	0.82682	.	.	ENSG00000135119	ENST00000257575;ENST00000392549	T;T	0.60920	0.15;0.15	4.89	4.89	0.63831	.	.	.	.	.	T	0.67878	0.2940	L	0.39898	1.24	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.71580	-0.4550	9	0.87932	D	0	-20.987	14.4508	0.67385	0.0:0.0:0.0:1.0	.	444	Q96EX2	RNFT2_HUMAN	H	444	ENSP00000257575:Y444H;ENSP00000376332:Y444H	ENSP00000257575:Y444H	Y	+	1	0	RNFT2	115771631	1.000000	0.71417	0.990000	0.47175	0.704000	0.40688	7.295000	0.78780	1.946000	0.56461	0.448000	0.29417	TAC		PASS	0.667	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		5	6	5	6	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117672400	117672400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:117672400C>A	ENST00000338101.4	-	21	3311	c.3307G>T	c.(3307-3309)Gaa>Taa	p.E1103*	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Nonsense_Mutation_p.E1069*			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E1069*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCCAGCAGTTCCACTTTCACC	0.607																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3205-3207)GAA>TAA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						53.0	56.0	55.0					12																	117672400		2017	4168	6185	SO:0001587	stop_gained	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672400C>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3307G>T	12.37:g.117672400C>A	ENSP00000337459:p.Glu1103*						p.E1069*	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3891	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1069			FAD-binding FR-type.			Nonsense_Mutation	SNP	ENST00000338101.4	37	c.3205G>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	47	13.745514	0.99760	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-40.0621	18.583	0.91178	0.0:1.0:0.0:0.0	.	.	.	.	X	964;1069;1069;1103	.	ENSP00000320758:E1069X	E	-	1	0	NOS1	116156783	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	5.746000	0.68681	2.615000	0.88500	0.561000	0.74099	GAA		PASS	0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			8	30	8	30	---	---	---	---
SLC15A4	121260	broad.mit.edu	37	12	129299466	129299466	+	Nonsense_Mutation	SNP	G	G	T	rs201921716		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:129299466G>T	ENST00000266771.5	-	2	735	c.696C>A	c.(694-696)tgC>tgA	p.C232*	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	232					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.C232C(1)|p.C232*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAGGCCGACGCAGACAGTGG	0.517																																						uc001uhu.2																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(694-696)TGC>TGA		solute carrier family 15, member 4							198.0	180.0	186.0					12																	129299466		2203	4300	6503	SO:0001587	stop_gained	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129299466G>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.696C>A	12.37:g.129299466G>T	ENSP00000266771:p.Cys232*					SLC15A4_uc001uhv.2_RNA|MGC16384_uc001uhw.2_5'Flank	p.C232*	NM_145648	NP_663623	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	2	749	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		232			Helical; (Potential).		A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Nonsense_Mutation	SNP	ENST00000266771.5	37	c.696C>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356265	0.61293	.	.	ENSG00000139370	ENST00000266771	.	.	.	5.7	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	8.6354	0.33945	0.294:0.0:0.706:0.0	.	.	.	.	X	232	.	ENSP00000266771:C232X	C	-	3	2	SLC15A4	127865419	1.000000	0.71417	0.478000	0.27316	0.213000	0.24496	2.437000	0.44828	0.331000	0.23511	0.591000	0.81541	TGC		PASS	0.517	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		31	81	31	81	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129569127	129569127	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:129569127G>A	ENST00000422113.2	-	6	1890	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.P60S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	522					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P522S(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGAAGCCGGGGCACCCACACC	0.577																																						uc009zyl.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1564-1566)CCC>TCC		transmembrane protein 132D precursor							103.0	77.0	86.0					12																	129569127		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569127G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1564C>T	12.37:g.129569127G>A	ENSP00000408581:p.Pro522Ser					TMEM132D_uc001uia.2_Missense_Mutation_p.P60S	p.P522S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1892	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	522			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1564C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366915	0.82463	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.28895	1.59;1.59	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.64249	0.2581	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73448	-0.3979	9	.	.	.	-38.7823	17.8232	0.88656	0.0:0.0:1.0:0.0	.	522;60	Q14C87;Q14C87-2	T132D_HUMAN;.	S	60;522	ENSP00000374092:P60S;ENSP00000408581:P522S	.	P	-	1	0	TMEM132D	128135080	1.000000	0.71417	0.995000	0.50966	0.541000	0.35023	9.618000	0.98365	2.185000	0.69588	0.561000	0.74099	CCC		PASS	0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		6	20	6	20	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129822289	129822289	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr12:129822289G>C	ENST00000422113.2	-	4	1515	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	397					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q397E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGACCAGCTGTGTGGCTGGC	0.572																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1189-1191)CAG>GAG		transmembrane protein 132D precursor							154.0	137.0	143.0					12																	129822289		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822289G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1189C>G	12.37:g.129822289G>C	ENSP00000408581:p.Gln397Glu						p.Q397E	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1517	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	397			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1189C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972186	0.53614	.	.	ENSG00000151952	ENST00000422113	T	0.13420	2.59	5.31	5.31	0.75309	.	0.206007	0.33382	N	0.004971	T	0.41858	0.1177	M	0.83953	2.67	0.32634	N	0.521588	D	0.56035	0.974	D	0.70487	0.969	T	0.55592	-0.8117	9	.	.	.	-15.8962	17.2156	0.86943	0.0:0.0:1.0:0.0	.	397	Q14C87	T132D_HUMAN	E	397	ENSP00000408581:Q397E	.	Q	-	1	0	TMEM132D	128388242	1.000000	0.71417	0.955000	0.39395	0.462000	0.32619	6.466000	0.73543	2.478000	0.83669	0.650000	0.86243	CAG		PASS	0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	91	16	91	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671601	25671601	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:25671601T>C	ENST00000281589.3	+	1	1302	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	422					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.I422T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCTAGCCAAATTGCTCGACTA	0.537																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1264-1266)ATT>ACT		poly(A) binding protein, cytoplasmic 3							167.0	162.0	164.0					13																	25671601		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671601T>C	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1265T>C	13.37:g.25671601T>C	ENSP00000281589:p.Ile422Thr						p.I422T	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1326	+		Lung SC(185;0.0225)|Breast(139;0.0602)	422					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1265T>C	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	T	6.236	0.411631	0.11812	.	.	ENSG00000151846	ENST00000281589	T	0.27720	1.65	0.875	0.875	0.19130	.	0.137339	0.30201	U	0.010169	T	0.15305	0.0369	N	0.21097	0.63	0.31744	N	0.635408	B	0.02656	0.0	B	0.04013	0.001	T	0.15521	-1.0434	10	0.18276	T	0.48	.	5.8995	0.18957	0.0:0.0:0.0:1.0	.	422	Q9H361	PABP3_HUMAN	T	422	ENSP00000281589:I422T	ENSP00000281589:I422T	I	+	2	0	PABPC3	24569601	1.000000	0.71417	0.906000	0.35671	0.030000	0.12068	3.774000	0.55341	0.632000	0.30432	0.260000	0.18958	ATT		PASS	0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		48	98	48	98	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911471	32911471	+	Missense_Mutation	SNP	G	G	C	rs80358544		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:32911471G>C	ENST00000380152.3	+	11	3212	c.2979G>C	c.(2977-2979)tgG>tgC	p.W993C	BRCA2_ENST00000544455.1_Missense_Mutation_p.W993C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	993	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.W993C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGAACAAATGGGCAGGACTCT	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(2977-2979)TGG>TGC	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							52.0	59.0	56.0					13																	32911471		2203	4294	6497	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32911471G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2979G>C	13.37:g.32911471G>C	ENSP00000369497:p.Trp993Cys	TCGA Ovarian(8;0.087)					p.W993C	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3206	+		Lung SC(185;0.0262)	993			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.2979G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805665	0.02819	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01126	5.3;5.3	5.89	2.14	0.27477	.	1.076730	0.07054	N	0.832500	T	0.01627	0.0052	L	0.49778	1.585	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.46925	-0.9156	10	0.49607	T	0.09	.	5.8013	0.18416	0.3109:0.0:0.5605:0.1286	.	993	P51587	BRCA2_HUMAN	C	993	ENSP00000369497:W993C;ENSP00000439902:W993C	ENSP00000369497:W993C	W	+	3	0	BRCA2	31809471	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.222000	0.17699	0.385000	0.24970	0.650000	0.86243	TGG		PASS	0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		18	32	18	32	---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409740	47409740	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:47409740C>A	ENST00000378688.4	-	3	779	c.648G>T	c.(646-648)caG>caT	p.Q216H	HTR2A_ENST00000542664.1_Missense_Mutation_p.Q216H|HTR2A_ENST00000543956.1_Missense_Mutation_p.Q132H			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	216					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.Q216H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGAATCGTCCTGTAGCCCAA	0.403																																						uc001vbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(646-648)CAG>CAT		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						60.0	61.0	60.0					13																	47409740		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409740C>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.648G>T	13.37:g.47409740C>A	ENSP00000367959:p.Gln216His					HTR2A_uc001vbr.2_Missense_Mutation_p.Q116H|HTR2A_uc010acr.2_Missense_Mutation_p.Q216H	p.Q216H	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	782	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	216			Extracellular (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.648G>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345348	0.24426	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.60797	0.16;0.16;0.16	6.08	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.125626	0.53938	D	0.000043	T	0.31827	0.0809	N	0.11313	0.125	0.43141	D	0.994895	B;B	0.15141	0.012;0.002	B;B	0.15052	0.012;0.012	T	0.05733	-1.0867	10	0.21540	T	0.41	.	7.0729	0.25189	0.0:0.5575:0.0:0.4425	.	132;216	F5GWE8;P28223	.;5HT2A_HUMAN	H	216;132;216	ENSP00000367959:Q216H;ENSP00000441861:Q132H;ENSP00000437737:Q216H	ENSP00000367959:Q216H	Q	-	3	2	HTR2A	46307741	0.995000	0.38212	1.000000	0.80357	0.898000	0.52572	0.279000	0.18771	0.914000	0.36822	0.591000	0.81541	CAG		PASS	0.403	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		6	44	6	44	---	---	---	---
PCDH8	5100	broad.mit.edu	37	13	53422133	53422133	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:53422133C>A	ENST00000377942.3	-	1	642	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C	PCDH8_ENST00000338862.4_Missense_Mutation_p.G147C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G147C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		ACTGCCGCACCCTCGGACACC	0.716																																					GBM(36;25 841 9273 49207)	uc001vhi.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(439-441)GGT>TGT		protocadherin 8 isoform 1 precursor							26.0	26.0	26.0					13																	53422133		2192	4289	6481	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422133C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.439G>T	13.37:g.53422133C>A	ENSP00000367177:p.Gly147Cys					PCDH8_uc001vhj.2_Missense_Mutation_p.G147C	p.G147C	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	642	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	147			Extracellular (Potential).|Cadherin 2.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.439G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980712	0.53827	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.53857	0.6;0.6	4.59	1.63	0.23807	Cadherin (3);Cadherin-like (1);	0.458179	0.18489	N	0.139698	T	0.53142	0.1778	L	0.49571	1.57	0.25443	N	0.98807	D;P	0.58620	0.983;0.901	P;P	0.54706	0.754;0.759	T	0.42582	-0.9443	10	0.66056	D	0.02	.	5.3238	0.15895	0.0:0.4488:0.0:0.5512	.	147;147	O95206-2;O95206	.;PCDH8_HUMAN	C	147	ENSP00000367177:G147C;ENSP00000341350:G147C	ENSP00000341350:G147C	G	-	1	0	PCDH8	52320134	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	3.975000	0.56859	0.555000	0.29079	-0.226000	0.12346	GGT		PASS	0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		10	6	10	6	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99489835	99489835	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:99489835C>A	ENST00000376460.1	-	39	4238	c.4158G>T	c.(4156-4158)ctG>ctT	p.L1386L	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Silent_p.L1387L|DOCK9-AS1_ENST00000439367.1_RNA	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1387					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1386L(1)|p.L1387L(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATGACTGGTGCAGAACATCTG	0.478																																						uc001vnt.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(4159-4161)CTG>CTT		dedicator of cytokinesis 9 isoform a							101.0	102.0	102.0					13																	99489835		2066	4196	6262	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99489835C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4158G>T	13.37:g.99489835C>A						DOCK9_uc001vnw.2_Silent_p.L1386L|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.L1387L|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Silent_p.L30L|DOCK9_uc010tin.1_Silent_p.L30L|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Silent_p.L79L|DOCK9_uc010tip.1_Silent_p.L97L|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Silent_p.L365L	p.L1387L	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			39	4216	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1387					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.4161G>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680733	0.14907	.	.	ENSG00000088387	ENST00000450257	.	.	.	5.63	-8.21	0.01041	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.66002	-0.6031	4	.	.	.	.	14.4575	0.67425	0.7743:0.0906:0.135:0.0	.	.	.	.	F	83	.	.	C	-	2	0	DOCK9	98287836	0.001000	0.12720	0.027000	0.17364	0.887000	0.51463	-1.477000	0.02331	-1.674000	0.01461	-0.274000	0.10170	TGC		PASS	0.478	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		10	21	10	21	---	---	---	---
BIVM	54841	broad.mit.edu	37	13	103492203	103492204	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:103492203_103492204TG>AT	ENST00000257336.1	+	11	2179_2180	c.1500_1501TG>AT	c.(1498-1503)gaTGgg>gaATgg	p.500_501DG>EW	BIVM_ENST00000448849.2_Missense_Mutation_p.278_279DG>EW|BIVM-ERCC5_ENST00000602836.1_Intron	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	500						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.G501W(1)|p.D500_G501>EW(1)|p.D500E(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTGATTACGATGGGAATGATTG	0.406																																						uc001vps.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(1498-1500)GAT>GAA|c.(1501-1503)GGG>TGG		basic, immunoglobulin-like variable motif																																				SO:0001583	missense	54841					cytoplasm|nucleus		g.chr13:103492203T>A|g.chr13:103492204G>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	Exception_encountered	13.37:g.103492203_103492204delinsAT	ENSP00000257336:p.D500_G501delinsEW					BIVM_uc010agc.2_Missense_Mutation_p.D278E|ERCC5_uc001vpu.1_Intron|BIVM_uc001vpv.2_Missense_Mutation_p.D271E|BIVM_uc010agc.2_Missense_Mutation_p.G279W|ERCC5_uc001vpu.1_Intron|BIVM_uc001vpv.2_Missense_Mutation_p.G272W	p.D500E|p.G501W	NM_017693	NP_060163	Q86UB2	BIVM_HUMAN			11	2179|2180	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		500|501					Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	c.1500T>A|c.1501G>T	CCDS9505.1																																																																																				PASS	0.406	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			29|30	59|57	29	57	---	---	---	---
ABHD13	84945	broad.mit.edu	37	13	108882199	108882199	+	Silent	SNP	A	A	C	rs199907641		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:108882199A>C	ENST00000375898.3	+	2	934	c.633A>C	c.(631-633)tcA>tcC	p.S211S		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	211						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.S211S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAGGATTTCAGCCATTATGG	0.388													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20487	0.0		0.0	False		,,,				2504	0.0				Pancreas(22;506 789 38166 45896 51596)	uc001vqq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(631-633)TCA>TCC		abhydrolase domain containing 13							110.0	106.0	107.0					13																	108882199		2203	4300	6503	SO:0001819	synonymous_variant	84945					integral to membrane	hydrolase activity	g.chr13:108882199A>C	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.633A>C	13.37:g.108882199A>C							p.S211S	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN			2	898	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		211					B3KWE7|Q8NBW1|Q96JX9	Silent	SNP	ENST00000375898.3	37	c.633A>C	CCDS32007.1																																																																																				PASS	0.388	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		17	16	17	16	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114784270	114784270	+	Missense_Mutation	SNP	C	C	A	rs151265782		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr13:114784270C>A	ENST00000334062.7	-	10	1032	c.911G>T	c.(910-912)cGg>cTg	p.R304L	RASA3_ENST00000389544.4_Missense_Mutation_p.R272L|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	304					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.R304L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CAGCAGGTCCCGCAGAGGGCT	0.612																																						uc001vui.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|skin(1)	4						c.(910-912)CGG>CTG		RAS p21 protein activator 3							90.0	83.0	85.0					13																	114784270		2203	4300	6503	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114784270C>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.911G>T	13.37:g.114784270C>A	ENSP00000335029:p.Arg304Leu					RASA3_uc010tkk.1_Missense_Mutation_p.R272L|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA	p.R304L	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		10	1042	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	304					A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.911G>T	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906073	0.33628	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.71817	-0.6;-0.6	4.78	4.78	0.61160	Rho GTPase activation protein (1);C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.37800	1.135	0.80722	D	1	B	0.25772	0.134	B	0.26310	0.068	T	0.58132	-0.7690	9	.	.	.	.	16.5685	0.84605	0.0:1.0:0.0:0.0	.	304	Q14644	RASA3_HUMAN	L	304;272	ENSP00000335029:R304L;ENSP00000374195:R272L	.	R	-	2	0	RASA3	113802372	0.992000	0.36948	0.968000	0.41197	0.045000	0.14185	3.782000	0.55401	2.153000	0.67306	0.591000	0.81541	CGG		PASS	0.612	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		15	15	15	15	---	---	---	---
OXA1L	5018	broad.mit.edu	37	14	23239049	23239049	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:23239049G>C	ENST00000604262.1	+	4	512	c.489G>C	c.(487-489)caG>caC	p.Q163H	OXA1L_ENST00000412791.1_Missense_Mutation_p.Q163H|OXA1L_ENST00000285848.5_Missense_Mutation_p.Q223H|OXA1L_ENST00000358043.5_Missense_Mutation_p.Q147H			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	163					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.Q223H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TGACGGGCCAGCGAGAGGCAG	0.483																																						uc001wgn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(667-669)CAG>CAC		oxidase (cytochrome c) assembly 1-like							657.0	628.0	638.0					14																	23239049		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239049G>C		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.489G>C	14.37:g.23239049G>C	ENSP00000474623:p.Gln163His					OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.Q223H|OXA1L_uc001wgp.2_Missense_Mutation_p.Q147H|OXA1L_uc001wgq.2_5'UTR	p.Q223H	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	669	+	all_cancers(95;8.44e-05)		163			Mitochondrial intermembrane (Potential).		B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.669G>C		.	.	.	.	.	.	.	.	.	.	G	21.2	4.117025	0.77323	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.34275	1.37;1.41;1.39	5.99	-0.743	0.11105	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.74467	2.265	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.91635	0.996;0.97;0.999	T	0.62464	-0.6849	10	0.72032	D	0.01	-16.0409	14.4955	0.67683	0.1197:0.0:0.8803:0.0	.	163;163;223	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	H	223;32;163;147	ENSP00000285848:Q223H;ENSP00000387601:Q163H;ENSP00000350740:Q147H	ENSP00000285848:Q223H	Q	+	3	2	OXA1L	22308889	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.506000	0.35747	-0.046000	0.13446	0.655000	0.94253	CAG		PASS	0.483	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		13	428	13	428	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745067	23745067	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:23745067G>C	ENST00000357460.5	-	2	1534	c.1370C>G	c.(1369-1371)cCt>cGt	p.P457R	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P459R|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P459R	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	457	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P433R(1)|p.P457R(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGGGTGGAGGGATCGGCAG	0.557																																						uc001wja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1369-1371)CCT>CGT		homeodomain leucine zipper protein							98.0	97.0	97.0					14																	23745067		2029	4184	6213	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745067G>C	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1370C>G	14.37:g.23745067G>C	ENSP00000350049:p.Pro457Arg					HOMEZ_uc001wjb.2_Missense_Mutation_p.P459R	p.P457R	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1518	-	all_cancers(95;5.54e-06)		457			Pro-rich.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1370C>G	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443166	0.43429	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.22945	1.93;1.93	5.56	5.56	0.83823	.	0.500736	0.17706	U	0.164743	T	0.17959	0.0431	N	0.25647	0.755	0.43141	D	0.99489	B;B	0.29232	0.2;0.238	B;B	0.28638	0.056;0.092	T	0.04005	-1.0985	10	0.08837	T	0.75	-6.3208	14.9085	0.70737	0.0:0.0:1.0:0.0	.	459;457	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	R	457;459	ENSP00000350049:P457R;ENSP00000406579:P459R	ENSP00000350049:P457R	P	-	2	0	HOMEZ	22814907	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.840000	0.62817	2.899000	0.99337	0.655000	0.94253	CCT		PASS	0.557	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		5	18	5	18	---	---	---	---
DHRS4L1	728635	broad.mit.edu	37	14	24517437	24517437	+	RNA	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:24517437T>A	ENST00000558293.1	+	0	510					NR_102693.1																						GAAACGAGGGTACAGAGAGTG	0.527																																						uc010alc.2																			0					0						c.e6+2		dehydrogenase/reductase (SDR family) member 4							143.0	146.0	145.0					14																	24517437		2203	4300	6503			728635						binding|oxidoreductase activity	g.chr14:24517437T>A																													14.37:g.24517437T>A						DHRS4L1_uc010tnu.1_RNA	p.G163_splice	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			6	488	+									Splice_Site	SNP	ENST00000558293.1	37	c.488_splice		.	.	.	.	.	.	.	.	.	.	T	16.55	3.155949	0.57259	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2315	0.48914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL136295.1	23587277	1.000000	0.71417	0.936000	0.37596	0.704000	0.40688	5.866000	0.69590	1.807000	0.52817	0.329000	0.21502	.		PASS	0.527	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			7	35	7	35	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31055950	31055950	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:31055950G>A	ENST00000206595.6	+	3	218	c.64G>A	c.(64-66)Gac>Aac	p.D22N	G2E3_ENST00000553504.1_Missense_Mutation_p.D52N|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_5'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	22					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D22N(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAAACATGATGACTGTCCTAA	0.279																																						uc001wqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(64-66)GAC>AAC		G2/M-phase specific E3 ubiquitin ligase							29.0	30.0	29.0					14																	31055950		2203	4273	6476	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31055950G>A	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.64G>A	14.37:g.31055950G>A	ENSP00000206595:p.Asp22Asn					G2E3_uc010tpe.1_5'UTR|G2E3_uc010tpf.1_5'UTR	p.D22N	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			3	218	+			22					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.64G>A	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619112	0.46736	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000553504;ENST00000554714;ENST00000547532;ENST00000555429	D;D;T;T;T;D	0.89196	-1.51;-1.9;-0.96;-1.16;-1.14;-2.48	5.59	5.59	0.84812	.	0.137618	0.64402	D	0.000004	T	0.81640	0.4865	L	0.32530	0.975	0.40171	D	0.977171	B	0.28900	0.227	B	0.21360	0.034	T	0.77981	-0.2383	10	0.30078	T	0.28	-16.0295	12.1396	0.53991	0.0799:0.0:0.9201:0.0	.	22	Q7L622	G2E3_HUMAN	N	22;22;52;22;22;22	ENSP00000206595:D22N;ENSP00000448745:D22N;ENSP00000451653:D52N;ENSP00000451147:D22N;ENSP00000446615:D22N;ENSP00000452275:D22N	ENSP00000206595:D22N	D	+	1	0	G2E3	30125701	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.088000	0.50175	2.788000	0.95919	0.585000	0.79938	GAC		PASS	0.279	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		6	19	6	19	---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39514366	39514366	+	Splice_Site	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:39514366C>A	ENST00000307712.6	-	16	2417		c.e16+1		SEC23A_ENST00000536508.1_Splice_Site|SEC23A_ENST00000537403.1_Splice_Site|SEC23A_ENST00000545328.2_Splice_Site	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.?(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTCCCTCTTACCTCTGGTGGT	0.333																																						uc001wup.1																			1	Unknown(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.e16+1		SEC23-related protein A							93.0	88.0	90.0					14																	39514366		2203	4300	6503	SO:0001630	splice_region_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39514366C>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1899+1G>T	14.37:g.39514366C>A						SEC23A_uc010tqa.1_Splice_Site_p.E519_splice|SEC23A_uc010tqb.1_Splice_Site_p.E604_splice	p.E633_splice	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	16	2122	-	Hepatocellular(127;0.213)							B2R5P4|B3KXI2|Q8NE16	Splice_Site	SNP	ENST00000307712.6	37	c.1899_splice	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623552	0.87460	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEC23A	38584117	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.760000	0.85248	2.690000	0.91761	0.655000	0.94253	.		PASS	0.333	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2		Intron	7	37	7	37	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975700	44975700	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:44975700A>G	ENST00000340446.4	-	1	782	c.491T>C	c.(490-492)aTa>aCa	p.I164T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	164						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.I164T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AATAACCACTATTTCTGATTC	0.428																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(490-492)ATA>ACA		fibrous sheath CABYR binding protein							182.0	183.0	183.0					14																	44975700		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975700A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.491T>C	14.37:g.44975700A>G	ENSP00000344579:p.Ile164Thr						p.I164T	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	800	-			164					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.491T>C	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324057	0.24080	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.22743	1.94	5.4	4.22	0.49857	.	.	.	.	.	T	0.15435	0.0372	L	0.38838	1.175	0.09310	N	1	P	0.42941	0.794	B	0.39258	0.295	T	0.13629	-1.0502	9	0.42905	T	0.14	0.1888	5.39	0.16240	0.7622:0.0:0.0839:0.1539	.	164	Q5H9T9	FSCB_HUMAN	T	164	ENSP00000344579:I164T	ENSP00000344579:I164T	I	-	2	0	FSCB	44045450	0.004000	0.15560	0.006000	0.13384	0.072000	0.16883	1.626000	0.37039	0.961000	0.38030	0.533000	0.62120	ATA		PASS	0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		15	75	15	75	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45687519	45687519	+	Silent	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:45687519A>G	ENST00000310806.4	-	12	3266	c.2808T>C	c.(2806-2808)acT>acC	p.T936T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	936					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T936T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GCTTCTTCTTAGTGACATGTT	0.428																																						uc001wwf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2806-2808)ACT>ACC		chromosome 14 open reading frame 106							123.0	120.0	121.0					14																	45687519		2203	4300	6503	SO:0001819	synonymous_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687519A>G	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2808T>C	14.37:g.45687519A>G							p.T936T	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			12	3267	-			936					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2808T>C	CCDS9684.1																																																																																				PASS	0.428	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			4	37	4	37	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47530539	47530539	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:47530539C>A	ENST00000399232.2	-	7	1595	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	MDGA2_ENST00000357362.3_Missense_Mutation_p.D182Y|MDGA2_ENST00000426342.1_Missense_Mutation_p.D182Y|MDGA2_ENST00000439988.3_Missense_Mutation_p.D480Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	411	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D182Y(2)|p.D480Y(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTCCCAAAATCCGTGAATTTT	0.418																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1231-1233)GAT>TAT		MAM domain containing 1 isoform 1							156.0	143.0	147.0					14																	47530539		1887	4108	5995	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530539C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1231G>T	14.37:g.47530539C>A	ENSP00000382178:p.Asp411Tyr					MDGA2_uc001wwi.3_Missense_Mutation_p.D182Y|MDGA2_uc010ani.2_5'UTR	p.D411Y	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1427	-			411			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1231G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.458200|4.458200	0.84317|0.84317	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	D;D;D;D|.	0.81821|.	-1.54;-1.54;-1.54;-1.54|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	U|.	0.000068|.	D|D	0.88481|0.88481	0.6448|0.6448	H|H	0.96720|0.96720	3.87|3.87	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91955|0.91955	0.5574|0.5574	10|5	0.87932|.	D|.	0|.	.|.	18.2795|18.2795	0.90094|0.90094	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	411|.	Q7Z553|.	MDGA2_HUMAN|.	Y|V	411;182;480;182|185	ENSP00000400011:D411Y;ENSP00000405456:D182Y;ENSP00000382178:D480Y;ENSP00000349925:D182Y|.	ENSP00000349925:D182Y|.	D|G	-|-	1|2	0|0	MDGA2|MDGA2	46600289|46600289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.770000|7.770000	0.85390|0.85390	2.658000|2.658000	0.90341|0.90341	0.655000|0.655000	0.94253|0.94253	GAT|GGA		PASS	0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		19	66	19	66	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51223968	51223968	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:51223968G>T	ENST00000382041.3	-	18	3970	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.D1260E|NIN_ENST00000245441.5_Missense_Mutation_p.D1260E|NIN_ENST00000530997.2_Missense_Mutation_p.D1260E|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.D1260E	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1260					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D1260E(2)|p.D1266E(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCTGAAGGCAGTCATTTTCTC	0.433			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(3778-3780)GAC>GAA		ninein isoform 5							168.0	171.0	170.0					14																	51223968		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51223968G>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3780C>A	14.37:g.51223968G>T	ENSP00000371472:p.Asp1260Glu					NIN_uc001wyi.2_Missense_Mutation_p.D1260E|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.D1266E|NIN_uc001wyo.2_Missense_Mutation_p.D1260E	p.D1260E	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			18	3971	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1260			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.3780C>A	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.615|0.615	-0.823623|-0.823623	0.02755|0.02755	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.06142|.	3.61;3.34;3.34;3.34|.	6.06|6.06	3.26|3.26	0.37387|0.37387	.|.	0.835013|.	0.11104|.	N|.	0.599367|.	T|T	0.17023|0.17023	0.0409|0.0409	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.10296|.	0.003;0.002;0.003;0.001|.	B;B;B;B|.	0.09377|.	0.004;0.002;0.004;0.004|.	T|T	0.22591|0.22591	-1.0212|-1.0212	10|5	0.02654|.	T|.	1|.	-9.3235|-9.3235	3.8891|3.8891	0.09111|0.09111	0.1342:0.2537:0.4918:0.1203|0.1342:0.2537:0.4918:0.1203	.|.	1266;1260;1260;1260|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	E|M	1260;1243;1266;1260;1260;1260|751	ENSP00000245441:D1260E;ENSP00000371472:D1260E;ENSP00000324210:D1260E;ENSP00000412391:D1260E|.	ENSP00000245441:D1260E|.	D|L	-|-	3|1	2|2	NIN|NIN	50293718|50293718	0.002000|0.002000	0.14202|0.14202	0.998000|0.998000	0.56505|0.56505	0.876000|0.876000	0.50452|0.50452	0.160000|0.160000	0.16462|0.16462	0.447000|0.447000	0.26695|0.26695	0.655000|0.655000	0.94253|0.94253	GAC|CTG		PASS	0.433	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		12	77	12	77	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52520461	52520461	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:52520461G>T	ENST00000216286.5	-	5	1264	c.1265C>A	c.(1264-1266)cCc>cAc	p.P422H	NID2_ENST00000541773.1_Missense_Mutation_p.P369H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	422					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.P422H(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCTGGGTAGGGCTGGATGCT	0.547																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1264-1266)CCC>CAC		nidogen 2 precursor							94.0	88.0	90.0					14																	52520461		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520461G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1265C>A	14.37:g.52520461G>T	ENSP00000216286:p.Pro422His					NID2_uc010tqs.1_Missense_Mutation_p.P422H|NID2_uc010tqt.1_Missense_Mutation_p.P422H|NID2_uc001wzp.2_Missense_Mutation_p.P422H	p.P422H	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1499	-	Breast(41;0.0639)|all_epithelial(31;0.123)		422					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1265C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693435	0.48202	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83591	-1.74;-1.64	4.97	3.08	0.35506	.	0.466412	0.23065	N	0.052339	T	0.74427	0.3715	N	0.14661	0.345	0.09310	N	1	D;D;B	0.63880	0.993;0.98;0.039	P;P;B	0.53593	0.73;0.635;0.016	T	0.63915	-0.6529	10	0.40728	T	0.16	.	5.9278	0.19122	0.1681:0.1635:0.6685:0.0	.	369;424;422	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	H	422;369;424	ENSP00000216286:P422H;ENSP00000443730:P369H	ENSP00000216286:P422H	P	-	2	0	NID2	51590211	0.222000	0.23652	0.052000	0.19188	0.153000	0.21895	0.752000	0.26362	1.038000	0.40049	0.563000	0.77884	CCC		PASS	0.547	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			7	34	7	34	---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70245071	70245071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:70245071C>A	ENST00000216540.4	-	4	1055	c.922G>T	c.(922-924)Gag>Tag	p.E308*		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	308					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.E308*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	TTGAATTTCTCATAGCACCAA	0.448																																						uc001xlr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(922-924)GAG>TAG		solute carrier family 10, member 1							124.0	127.0	126.0					14																	70245071		2203	4300	6503	SO:0001587	stop_gained	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70245071C>A	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.922G>T	14.37:g.70245071C>A	ENSP00000216540:p.Glu308*						p.E308*	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	4	1056	-			308					B9EGB6|Q2TU29	Nonsense_Mutation	SNP	ENST00000216540.4	37	c.922G>T	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117311	0.77323	.	.	ENSG00000100652	ENST00000216540	.	.	.	4.72	-2.8	0.05823	.	1.185490	0.05805	N	0.612894	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6476	2.6452	0.04982	0.1983:0.3549:0.3002:0.1465	.	.	.	.	X	308	.	ENSP00000216540:E308X	E	-	1	0	SLC10A1	69314824	0.000000	0.05858	0.407000	0.26434	0.900000	0.52787	-0.105000	0.10907	-0.345000	0.08325	0.491000	0.48974	GAG		PASS	0.448	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			6	118	6	118	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72944990	72944990	+	Missense_Mutation	SNP	C	C	A	rs376111851		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:72944990C>A	ENST00000553530.1	+	12	1014	c.807C>A	c.(805-807)aaC>aaA	p.N269K	RGS6_ENST00000355512.6_Missense_Mutation_p.N269K|RGS6_ENST00000554782.1_Missense_Mutation_p.N130K|RGS6_ENST00000556437.1_Missense_Mutation_p.N269K|RGS6_ENST00000555571.1_Missense_Mutation_p.N269K|RGS6_ENST00000402788.2_Missense_Mutation_p.N269K|RGS6_ENST00000407322.4_Missense_Mutation_p.N269K|RGS6_ENST00000434263.2_Missense_Mutation_p.N200K|RGS6_ENST00000406236.4_Missense_Mutation_p.N269K|RGS6_ENST00000343854.6_Missense_Mutation_p.N269K|RGS6_ENST00000553525.1_Missense_Mutation_p.N269K|RGS6_ENST00000404301.2_Missense_Mutation_p.N269K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	269	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.N269K(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CATTTTTGAACGCACAGATCG	0.343																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(805-807)AAC>AAA		regulator of G-protein signalling 6							133.0	132.0	133.0					14																	72944990		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72944990C>A	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.807C>A	14.37:g.72944990C>A	ENSP00000452331:p.Asn269Lys					RGS6_uc010ttn.1_Missense_Mutation_p.N269K|RGS6_uc001xmx.3_Missense_Mutation_p.N269K|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.N269K|RGS6_uc010ttp.1_Missense_Mutation_p.N200K|RGS6_uc001xmz.1_Missense_Mutation_p.N130K	p.N269K	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	12	1330	+			269			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.807C>A	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	C	0.583	-0.836403	0.02692	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.25250	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;1.81;2.33;2.33	5.56	-0.241	0.13043	G-protein gamma domain (4);	0.081344	0.85682	D	0.000000	T	0.14874	0.0359	N	0.11845	0.185	0.46725	D	0.999179	P;B;P;B	0.47191	0.891;0.003;0.712;0.002	P;B;B;B	0.51055	0.657;0.007;0.441;0.012	T	0.22452	-1.0216	10	0.09843	T	0.71	-0.1483	5.8059	0.18440	0.1142:0.2848:0.0:0.601	.	200;269;274;269	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	K	269;269;269;269;269;269;269;269;269;269;241;200;130;130	ENSP00000451030:N269K;ENSP00000450936:N269K;ENSP00000452331:N269K;ENSP00000451855:N269K;ENSP00000347699:N269K;ENSP00000385243:N269K;ENSP00000384218:N269K;ENSP00000384612:N269K;ENSP00000383953:N269K;ENSP00000341199:N269K;ENSP00000412144:N200K;ENSP00000451912:N130K	ENSP00000341199:N269K	N	+	3	2	RGS6	72014743	0.893000	0.30496	0.987000	0.45799	0.771000	0.43674	0.029000	0.13666	-0.227000	0.09884	-0.459000	0.05422	AAC		PASS	0.343	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			5	20	5	20	---	---	---	---
PROX2	283571	broad.mit.edu	37	14	75329286	75329286	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:75329286C>T	ENST00000445876.1	-	1	1251	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000556489.2_Missense_Mutation_p.E418K			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	418					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E418K(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CCTCTCTGTTCCATCTTCACC	0.512																																						uc001xqr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)GAA>AAA		prospero homeobox 2							97.0	99.0	98.0					14																	75329286		2008	4168	6176	SO:0001583	missense	283571				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:75329286C>T		CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1252G>A	14.37:g.75329286C>T	ENSP00000405932:p.Glu418Lys					PROX2_uc001xqq.1_Intron	p.E418K	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)	1	1252	-			418					C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	c.1252G>A	CCDS45136.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974371	0.74246	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.54279	0.59;0.58	5.34	5.34	0.76211	.	0.719415	0.12237	N	0.486855	T	0.72203	0.3431	M	0.65498	2.005	0.43642	D	0.996045	D	0.76494	0.999	D	0.71656	0.974	T	0.71540	-0.4562	10	0.72032	D	0.01	-4.9694	16.8653	0.86027	0.0:1.0:0.0:0.0	.	418	G3V3G0	.	K	418	ENSP00000451223:E418K;ENSP00000405932:E418K	ENSP00000374315:E418K	E	-	1	0	PROX2	74399039	1.000000	0.71417	0.430000	0.26722	0.425000	0.31504	6.114000	0.71560	2.491000	0.84063	0.555000	0.69702	GAA		PASS	0.512	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	60	7	60	---	---	---	---
CEP128	145508	broad.mit.edu	37	14	80993276	80993276	+	Missense_Mutation	SNP	C	C	A	rs370431744		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:80993276C>A	ENST00000555265.1	-	23	3384	c.3009G>T	c.(3007-3009)agG>agT	p.R1003S	CEP128_ENST00000281129.3_Missense_Mutation_p.R1003S|CEP128_ENST00000553717.1_5'UTR			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	1003						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R1003S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTGCGAACCCTGTATTTGG	0.348																																						uc001xux.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3007-3009)AGG>AGT		hypothetical protein LOC145508							89.0	89.0	89.0					14																	80993276		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:80993276C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.3009G>T	14.37:g.80993276C>A	ENSP00000451162:p.Arg1003Ser					C14orf145_uc010asz.1_RNA	p.R1003S	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	22	3180	-			1003					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.3009G>T	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.301|0.301	-0.973669|-0.973669	0.02215|0.02215	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000556061|ENST00000281129;ENST00000555265	.|T;T	.|0.31769	.|1.48;1.48	5.64|5.64	-1.09|-1.09	0.09904|0.09904	.|.	.|0.499549	.|0.19117	.|N	.|0.122298	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	0.999998|0.999998	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.16394|0.16394	-1.0404|-1.0404	5|10	.|0.22109	.|T	.|0.4	.|.	1.9747|1.9747	0.03413|0.03413	0.1225:0.2792:0.1204:0.478|0.1225:0.2792:0.1204:0.478	.|.	.|1003	.|Q6ZU80	.|CE128_HUMAN	C|S	69|1003	.|ENSP00000281129:R1003S;ENSP00000451162:R1003S	.|ENSP00000281129:R1003S	G|R	-|-	1|3	0|2	CEP128|CEP128	80063029|80063029	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.008000|0.008000	0.06430|0.06430	-0.315000|-0.315000	0.08081|0.08081	-0.434000|-0.434000	0.07275|0.07275	-2.596000|-2.596000	0.00163|0.00163	GGT|AGG		PASS	0.348	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		7	19	7	19	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92488010	92488010	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:92488010C>T	ENST00000267622.4	-	4	851	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	160					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.D160N(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCATGTCATCGTCATGGAAA	0.438			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(478-480)GAT>AAT		thyroid hormone receptor interactor 11							84.0	80.0	82.0					14																	92488010		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92488010C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.478G>A	14.37:g.92488010C>T	ENSP00000267622:p.Asp160Asn						p.D160N	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	4	1266	-			160			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.478G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	c	19.52	3.843993	0.71488	.	.	ENSG00000100815	ENST00000267622	T	0.69175	-0.38	5.42	4.53	0.55603	.	0.180634	0.47455	D	0.000228	T	0.72922	0.3521	L	0.34521	1.04	0.42010	D	0.99093	D	0.89917	1.0	D	0.79784	0.993	T	0.75935	-0.3142	10	0.66056	D	0.02	.	13.6866	0.62520	0.0:0.9262:0.0:0.0738	.	160	Q15643	TRIPB_HUMAN	N	160	ENSP00000267622:D160N	ENSP00000267622:D160N	D	-	1	0	TRIP11	91557763	0.998000	0.40836	0.717000	0.30585	0.239000	0.25481	3.712000	0.54875	1.285000	0.44548	0.655000	0.94253	GAT		PASS	0.438	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			15	25	15	25	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96775918	96775918	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:96775918C>A	ENST00000359933.4	-	29	5068	c.4175G>T	c.(4174-4176)gGt>gTt	p.G1392V	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1392					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.G1392V(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGATGATCGACCACTGGAATC	0.368																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(4174-4176)GGT>GTT		ATG2 autophagy related 2 homolog B							141.0	117.0	125.0					14																	96775918		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96775918C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4175G>T	14.37:g.96775918C>A	ENSP00000353010:p.Gly1392Val						p.G1392V	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	29	4540	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1392					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4175G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	6.216	0.407967	0.11754	.	.	ENSG00000066739	ENST00000359933	T	0.46063	0.88	5.58	2.61	0.31194	.	0.864769	0.10342	N	0.686213	T	0.29783	0.0744	L	0.36672	1.1	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	10	0.27082	T	0.32	.	5.7227	0.17996	0.1309:0.5303:0.268:0.0708	.	1392	Q96BY7	ATG2B_HUMAN	V	1392	ENSP00000353010:G1392V	ENSP00000261834:G36V	G	-	2	0	ATG2B	95845671	0.096000	0.21769	0.003000	0.11579	0.391000	0.30476	2.075000	0.41538	0.743000	0.32719	0.655000	0.94253	GGT		PASS	0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	45	8	45	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101515983	101515983	+	lincRNA	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:101515983C>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA|AL132709.3_ENST00000577219.1_RNA|MIR889_ENST00000401280.1_RNA|MIR655_ENST00000362159.2_RNA|MIR539_ENST00000365690.2_RNA|MIR487A_ENST00000384827.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		ATATCAGACTCTGCCTCGGAG	0.517																																						hsa-mir-655|MI0003677																			0					0															78.0	71.0	73.0					14																	101515983		1568	3582	5150			724025							g.chr14:101515983C>T	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101515983C>T						MIR487A_hsa-mir-487a|MI0002471_5'Flank										+									RNA	SNP	ENST00000553692.1	37	c.97C>T																																																																																					PASS	0.517	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			7	11	7	11	---	---	---	---
MOK	5891	broad.mit.edu	37	14	102698904	102698904	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:102698904C>A	ENST00000361847.2	-	9	1065	c.834G>T	c.(832-834)caG>caT	p.Q278H	MOK_ENST00000522874.1_Missense_Mutation_p.Q277H|MOK_ENST00000520266.1_Intron|MOK_ENST00000522867.1_Missense_Mutation_p.R11M|MOK_ENST00000519058.1_Missense_Mutation_p.R11M|MOK_ENST00000522534.1_Missense_Mutation_p.R11M|MOK_ENST00000517966.1_Missense_Mutation_p.R11M|MOK_ENST00000523231.1_Missense_Mutation_p.R11M|MOK_ENST00000524214.1_Missense_Mutation_p.Q248H|MOK_ENST00000561150.1_Missense_Mutation_p.R11M|MOK_ENST00000524370.1_Missense_Mutation_p.R11M|MOK_ENST00000193029.6_Missense_Mutation_p.Q44H	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q278H(1)									GCTGCAGGGCCTGGTGGGCGG	0.572																																						uc001ylm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(832-834)CAG>CAT		MAPK/MAK/MRK overlapping kinase							131.0	135.0	134.0					14																	102698904		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102698904C>A	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.834G>T	14.37:g.102698904C>A	ENSP00000355304:p.Gln278His					RAGE_uc010txv.1_Missense_Mutation_p.Q248H|RAGE_uc001yln.2_Missense_Mutation_p.Q96H|RAGE_uc001ylh.2_RNA|RAGE_uc001yli.2_RNA|RAGE_uc001yll.2_RNA|RAGE_uc001ylj.2_RNA|RAGE_uc001ylk.2_RNA	p.Q278H	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			9	1060	-			278			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.834G>T	CCDS9971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.60|12.60	1.986333|1.986333	0.35036|0.35036	.|.	.|.	ENSG00000080823|ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214|ENST00000519058	T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78|.	5.5|5.5	4.6|4.6	0.57074|0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.133111|.	0.52532|.	D|.	0.000066|.	T|T	0.68833|0.68833	0.3044|0.3044	M|M	0.83603|0.83603	2.65|2.65	0.39836|0.39836	D|D	0.973039|0.973039	B;P|.	0.37158|.	0.368;0.585|.	B;B|.	0.40009|.	0.316;0.316|.	T|T	0.72991|0.72991	-0.4123|-0.4123	10|6	0.87932|0.87932	D|D	0|0	-1.3851|-1.3851	6.2414|6.2414	0.20793|0.20793	0.0:0.6713:0.0:0.3287|0.0:0.6713:0.0:0.3287	.|.	248;278|.	E7ERR8;Q9UQ07|.	.;MOK_HUMAN|.	H|M	44;277;278;248|11	ENSP00000193029:Q44H;ENSP00000429469:Q277H;ENSP00000355304:Q278H;ENSP00000428942:Q248H|.	ENSP00000193029:Q44H|ENSP00000429672:R11M	Q|R	-|-	3|2	2|0	RAGE|RAGE	101768657|101768657	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	0.969000|0.969000	0.29370|0.29370	1.301000|1.301000	0.44836|0.44836	0.462000|0.462000	0.41574|0.41574	CAG|AGG		PASS	0.572	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			22	44	22	44	---	---	---	---
IGHV2-5	28457	broad.mit.edu	37	14	106494219	106494220	+	RNA	DNP	GG	GG	AT	rs569991253		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:106494219_106494220GG>AT	ENST00000390597.2	-	0	291_292									immunoglobulin heavy variable 2-5																		AGGTGTCCTTGGTGATGGTGAG	0.52																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																						8755							g.chr14:106494219G>A|g.chr14:106494220G>T	X62111		14q32.33	2012-02-08			ENSG00000211937	ENSG00000211937		"""Immunoglobulins / IGH locus"""	5576	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152287	Exception_encountered	14.37:g.106494219_106494220delinsAT														1760		-									RNA	SNP	ENST00000390597.2	37	c.34779C>T|c.34778C>A																																																																																					PASS	0.520	IGHV2-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325675.1	NG_001019		16	46|44	16	44	---	---	---	---
IGHV1-45	28466	broad.mit.edu	37	14	106963072	106963072	+	RNA	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:106963072G>T	ENST00000390621.2	-	0	267									immunoglobulin heavy variable 1-45																		TGAAAGGTGTGATCCATCCCA	0.542																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							158.0	158.0	158.0					14																	106963072		2016	4184	6200			8755							g.chr14:106963072G>T	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963072G>T														207		-									RNA	SNP	ENST00000390621.2	37	c.9612C>A																																																																																					PASS	0.542	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		25	63	25	63	---	---	---	---
NIPA1	123606	broad.mit.edu	37	15	23048951	23048951	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:23048951C>G	ENST00000337435.4	-	5	892	c.868G>C	c.(868-870)Gac>Cac	p.D290H	NIPA1_ENST00000538684.1_Missense_Mutation_p.D120H|NIPA1_ENST00000437912.2_Missense_Mutation_p.D215H|NIPA1_ENST00000561183.1_Missense_Mutation_p.D215H	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	290					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.D290H(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCAAGAAGTCCACCAGGCCC	0.557																																						uc001yvc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)GAC>CAC		non-imprinted in Prader-Willi/Angelman syndrome							92.0	77.0	82.0					15																	23048951		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23048951C>G	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.868G>C	15.37:g.23048951C>G	ENSP00000337452:p.Asp290His					NIPA1_uc001yvd.2_Missense_Mutation_p.D120H|NIPA1_uc001yve.2_Missense_Mutation_p.D215H	p.D290H	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	893	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	290			Extracellular (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.868G>C	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903106	0.92035	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.90676	-2.71;-2.71;-2.71	5.74	5.74	0.90152	.	0.197804	0.52532	D	0.000076	D	0.95962	0.8685	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.96010	0.9001	10	0.87932	D	0	-33.1303	19.9111	0.97025	0.0:1.0:0.0:0.0	.	290	Q7RTP0	NIPA1_HUMAN	H	290;215;120	ENSP00000337452:D290H;ENSP00000393962:D215H;ENSP00000440957:D120H	ENSP00000337452:D290H	D	-	1	0	NIPA1	20600392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.722000	0.93159	0.591000	0.81541	GAC		PASS	0.557	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		13	7	13	7	---	---	---	---
RASGRP1	10125	broad.mit.edu	37	15	38794623	38794623	+	Splice_Site	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:38794623C>T	ENST00000310803.5	-	12	1606		c.e12-1		RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000450598.2_Splice_Site|RASGRP1_ENST00000561180.1_Splice_Site|RASGRP1_ENST00000539159.1_Splice_Site|RASGRP1_ENST00000559830.1_Splice_Site|RASGRP1_ENST00000558164.1_Splice_Site	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)						activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAAGACAGACTGTGAAAAAG	0.398																																						uc001zke.3																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.e12-1		RAS guanyl releasing protein 1 isoform a							72.0	64.0	66.0					15																	38794623		1827	4087	5914	SO:0001630	splice_region_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38794623C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1429-1G>A	15.37:g.38794623C>T						RASGRP1_uc010bbe.2_Splice_Site|RASGRP1_uc010bbf.2_Splice_Site_p.S304_splice|RASGRP1_uc010bbg.2_Splice_Site_p.S304_splice|RASGRP1_uc001zkd.3_Splice_Site_p.S442_splice	p.S477_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	12	1607	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)						Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Splice_Site	SNP	ENST00000310803.5	37	c.1429_splice	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162132	0.78226	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5176	0.90941	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASGRP1	36581915	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	7.320000	0.79064	2.602000	0.87976	0.650000	0.86243	.		PASS	0.398	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	Intron	7	21	7	21	---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40564857	40564857	+	Missense_Mutation	SNP	C	C	A	rs369042481		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:40564857C>A	ENST00000542403.2	+	4	1402	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.R431S|PAK6_ENST00000441369.1_Missense_Mutation_p.R431S|PAK6_ENST00000260404.4_Missense_Mutation_p.R431S|PAK6_ENST00000560346.1_Missense_Mutation_p.R431S|PAK6_ENST00000453867.1_Missense_Mutation_p.R431S	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R431S(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCACTCGGGCCGCCAGGTGGC	0.662																																						uc010bbl.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(1)|ovary(1)|skin(1)	8						c.(1291-1293)CGC>AGC		p21-activated kinase 6							22.0	24.0	23.0					15																	40564857		2203	4299	6502	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564857C>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1291C>A	15.37:g.40564857C>A	ENSP00000439597:p.Arg431Ser					PAK6_uc010bbm.2_Missense_Mutation_p.R431S|PAK6_uc001zky.3_Missense_Mutation_p.R431S|PAK6_uc010bbn.2_Missense_Mutation_p.R431S|PAK6_uc001zlb.2_Missense_Mutation_p.R431S	p.R431S	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	1731	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	431			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1291C>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128485	0.77549	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050467	0.85682	D	0.000000	T	0.73598	0.3607	L	0.45744	1.44	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	T	0.75912	-0.3150	10	0.87932	D	0	.	15.4371	0.75155	0.1391:0.8608:0.0:0.0	.	431;431	Q9NQU5;G5E9R2	PAK6_HUMAN;.	S	431	ENSP00000406873:R431S;ENSP00000401153:R431S;ENSP00000409465:R431S;ENSP00000260404:R431S;ENSP00000439597:R431S	ENSP00000260404:R431S	R	+	1	0	PAK6	38352149	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.614000	0.36911	2.495000	0.84180	0.655000	0.94253	CGC		PASS	0.662	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			3	6	3	6	---	---	---	---
TMEM87A	25963	broad.mit.edu	37	15	42519099	42519099	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:42519099C>A	ENST00000389834.4	-	15	1572	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	RP11-546B15.1_ENST00000563846.1_RNA|TMEM87A_ENST00000448392.1_Silent_p.R375R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	436						integral component of membrane (GO:0016021)		p.R436R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CCCACAGCTCCCGCCAGTCCT	0.448																																						uc010udd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1306-1308)CGG>CGT		transmembrane protein 87A isoform 1							117.0	107.0	110.0					15																	42519099		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42519099C>A	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1308G>T	15.37:g.42519099C>A							p.R436R	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	15	1467	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	436					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1308G>T	CCDS32205.1																																																																																				PASS	0.448	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		5	55	5	55	---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43574172	43574172	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:43574172C>G	ENST00000452443.2	-	9	1225	c.1221G>C	c.(1219-1221)tgG>tgC	p.W407C		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	407					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.W407C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCCCAAGGAGCCAAATGACTT	0.587																																						uc001zrf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1219-1221)TGG>TGC		transglutaminase 7	L-Glutamine(DB00130)						97.0	71.0	80.0					15																	43574172		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574172C>G	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1221G>C	15.37:g.43574172C>G	ENSP00000389466:p.Trp407Cys						p.W407C	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	9	1226	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	407						Missense_Mutation	SNP	ENST00000452443.2	37	c.1221G>C	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824278	0.50739	.	.	ENSG00000159495	ENST00000452443	T	0.56611	0.45	5.22	5.22	0.72569	.	0.262387	0.38605	N	0.001640	T	0.79581	0.4470	M	0.93678	3.445	0.53005	D	0.999966	D	0.89917	1.0	D	0.78314	0.991	D	0.85269	0.1055	10	0.87932	D	0	-10.7655	16.2557	0.82516	0.0:1.0:0.0:0.0	.	407	Q96PF1	TGM7_HUMAN	C	407	ENSP00000389466:W407C	ENSP00000389466:W407C	W	-	3	0	TGM7	41361464	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.112000	0.64634	2.439000	0.82584	0.655000	0.94253	TGG		PASS	0.587	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		5	22	5	22	---	---	---	---
CYP19A1	1588	broad.mit.edu	37	15	51503140	51503140	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:51503140G>T	ENST00000396402.1	-	10	1530	c.1377C>A	c.(1375-1377)caC>caA	p.H459Q	CYP19A1_ENST00000260433.2_Missense_Mutation_p.H459Q|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.H459Q|CYP19A1_ENST00000396404.4_Missense_Mutation_p.H459Q	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	459					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.H459Q(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	ATGTCTTCACGTGGAATCGTC	0.468																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1375-1377)CAC>CAA		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						218.0	165.0	183.0					15																	51503140		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51503140G>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1377C>A	15.37:g.51503140G>T	ENSP00000379683:p.His459Gln					CYP19A1_uc001zza.3_Missense_Mutation_p.H459Q	p.H459Q	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	11	1628	-			459					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1377C>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	G	4.206	0.037069	0.08148	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.68025	-0.3;-0.3;-0.3	5.46	-5.72	0.02406	.	0.529823	0.23250	N	0.050249	T	0.46814	0.1412	L	0.55834	1.745	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.36792	-0.9733	10	0.17369	T	0.5	-6.5392	3.7098	0.08416	0.3899:0.2272:0.3055:0.0774	.	459	P11511	CP19A_HUMAN	Q	459	ENSP00000379683:H459Q;ENSP00000260433:H459Q;ENSP00000379685:H459Q	ENSP00000260433:H459Q	H	-	3	2	CYP19A1	49290432	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-2.215000	0.01222	-1.409000	0.02038	-0.797000	0.03246	CAC		PASS	0.468	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			15	27	15	27	---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58891797	58891797	+	Splice_Site	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:58891797C>A	ENST00000260408.3	-	15	2595	c.2152G>T	c.(2152-2154)Ggc>Tgc	p.G718C	ADAM10_ENST00000396140.2_Splice_Site_p.G417C|ADAM10_ENST00000561288.1_Intron|snoU13_ENST00000458913.1_RNA|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	718					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.G718C(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ATATTCTTACCTGGAAGTGGT	0.348																																						uc002afd.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2152-2154)GGC>TGC		ADAM metallopeptidase domain 10 precursor							123.0	125.0	124.0					15																	58891797		2192	4292	6484	SO:0001630	splice_region_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58891797C>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.2152+1G>T	15.37:g.58891797C>A						ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.G417C|ADAM10_uc002afe.1_Intron	p.G718C	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	15	2596	-			718			Cytoplasmic (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.2152G>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718425	0.89205	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.26223	1.75;3.05	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.14839	-1.0458	9	.	.	.	-3.5229	19.1791	0.93615	0.0:1.0:0.0:0.0	.	417;718	B4DU28;O14672	.;ADA10_HUMAN	C	718;537;417	ENSP00000260408:G718C;ENSP00000379444:G417C	.	G	-	1	0	ADAM10	56679089	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.404000	0.79996	2.521000	0.84997	0.585000	0.79938	GGC		PASS	0.348	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	Missense_Mutation	5	88	5	88	---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65771329	65771329	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:65771329C>T	ENST00000341861.5	-	11	2973	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K	DPP8_ENST00000321118.7_Missense_Mutation_p.E465K|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000321147.6_Missense_Mutation_p.E465K|DPP8_ENST00000559233.1_Missense_Mutation_p.E465K|DPP8_ENST00000300141.6_Missense_Mutation_p.E449K|DPP8_ENST00000358939.4_Missense_Mutation_p.E449K	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	465					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.E449K(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAATAAACTCAATTTCCTCT	0.308																																						uc002aov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1393-1395)GAG>AAG		dipeptidyl peptidase 8 isoform 1							67.0	67.0	67.0					15																	65771329		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65771329C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1393G>A	15.37:g.65771329C>T	ENSP00000339208:p.Glu465Lys					DPP8_uc002aow.2_Missense_Mutation_p.E465K|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E449K|DPP8_uc002aoy.2_Missense_Mutation_p.E465K|DPP8_uc002aoz.2_Missense_Mutation_p.E449K|DPP8_uc010bhj.2_Missense_Mutation_p.E465K|DPP8_uc002apa.2_Missense_Mutation_p.E362K|DPP8_uc010bhk.1_Intron	p.E465K	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			11	2971	-			465					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.1393G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486957	0.26686	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000395652	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.82	5.82	0.92795	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.069956	0.64402	D	0.000014	T	0.19644	0.0472	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.28291	0.022;0.206;0.05;0.027	B;B;B;B	0.28011	0.015;0.085;0.022;0.038	T	0.04565	-1.0942	10	0.07030	T	0.85	-26.7323	15.561	0.76244	0.0:0.8627:0.1372:0.0	.	449;449;465;465	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	K	465;449;449;465;465;465	ENSP00000339208:E465K;ENSP00000351817:E449K;ENSP00000300141:E449K;ENSP00000318111:E465K;ENSP00000316373:E465K;ENSP00000379013:E465K	ENSP00000300141:E449K	E	-	1	0	DPP8	63558382	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.278000	0.51662	2.744000	0.94065	0.650000	0.86243	GAG		PASS	0.308	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		5	12	5	12	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66857146	66857146	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:66857146G>A	ENST00000341509.5	-	2	281	c.150C>T	c.(148-150)taC>taT	p.Y50Y	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	50					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.Y50Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCCGTCTGGTAGGCAGAAC	0.647																																						uc002aqc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(148-150)TAC>TAT		lactase-like precursor							106.0	94.0	98.0					15																	66857146		2201	4299	6500	SO:0001819	synonymous_variant	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66857146G>A	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.150C>T	15.37:g.66857146G>A						LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR	p.Y50Y	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			2	282	-			50			Extracellular (Potential).		B3KQY0	Silent	SNP	ENST00000341509.5	37	c.150C>T	CCDS10220.1																																																																																				PASS	0.647	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		8	40	8	40	---	---	---	---
FAH	2184	broad.mit.edu	37	15	80478522	80478522	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:80478522A>T	ENST00000407106.1	+	15	1386	c.1231A>T	c.(1231-1233)Aaa>Taa	p.K411*	FAH_ENST00000561421.1_Nonsense_Mutation_p.K411*|FAH_ENST00000261755.5_Nonsense_Mutation_p.K411*|FAH_ENST00000539156.1_Nonsense_Mutation_p.K341*			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	411					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.K411*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGTGCTGGAAAAGTGCTGCC	0.562									Tyrosinemia, type 1																													uc002bfj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1231-1233)AAA>TAA		fumarylacetoacetase							160.0	134.0	143.0					15																	80478522		2203	4300	6503	SO:0001587	stop_gained	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80478522A>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1231A>T	15.37:g.80478522A>T	ENSP00000385080:p.Lys411*					FAH_uc002bfk.1_Nonsense_Mutation_p.K411*|FAH_uc002bfm.1_Nonsense_Mutation_p.K411*|FAH_uc002bfn.1_Nonsense_Mutation_p.K341*	p.K411*	NM_000137	NP_000128	P16930	FAAA_HUMAN			15	1313	+			411					B2R9X1|D3DW95|Q53XA7	Nonsense_Mutation	SNP	ENST00000407106.1	37	c.1231A>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	A	36	5.863170	0.97043	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	.	.	.	4.94	2.36	0.29203	.	0.129315	0.50627	D	0.000115	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4234	10.8736	0.46899	0.7027:0.2973:0.0:0.0	.	.	.	.	X	411;411;341	.	ENSP00000261755:K411X	K	+	1	0	FAH	78265577	0.989000	0.36119	0.866000	0.34008	0.832000	0.47134	3.432000	0.52824	0.799000	0.34018	0.482000	0.46254	AAA		PASS	0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			20	30	20	30	---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83218354	83218354	+	Missense_Mutation	SNP	G	G	T	rs200654665		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:83218354G>T	ENST00000562019.1	-	9	1586	c.1270C>A	c.(1270-1272)Cag>Aag	p.Q424K	CPEB1_ENST00000568757.1_Missense_Mutation_p.Q344K|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.Q422K|CPEB1_ENST00000563800.1_Missense_Mutation_p.Q446K|CPEB1_ENST00000568128.1_Missense_Mutation_p.Q419K|RP11-152F13.10_ENST00000562833.1_Silent_p.L153L|CPEB1_ENST00000423133.2_Missense_Mutation_p.Q344K|CPEB1_ENST00000398592.2_Missense_Mutation_p.Q193K|CPEB1_ENST00000450751.2_Missense_Mutation_p.Q344K|CPEB1_ENST00000398591.2_Missense_Mutation_p.Q349K|CPEB1_ENST00000564522.1_Missense_Mutation_p.Q344K			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	424	Necessary for stress granule assembly and correct localization in dcp1 bodies.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.Q349K(1)|p.Q419K(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCAAGCCTCTGAGATGGGCTC	0.552																																						uc002bit.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1450-1452)CAG>AAG		cytoplasmic polyadenylation element binding							62.0	63.0	62.0					15																	83218354		2000	4167	6167	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83218354G>T	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1270C>A	15.37:g.83218354G>T	ENSP00000457836:p.Gln424Lys					CPEB1_uc002biq.2_Missense_Mutation_p.Q344K|CPEB1_uc002bir.2_Missense_Mutation_p.Q349K|CPEB1_uc002bis.2_Missense_Mutation_p.Q344K|CPEB1_uc010uod.1_Missense_Mutation_p.Q193K|CPEB1_uc010uoe.1_Missense_Mutation_p.Q422K|CPEB1_uc002biu.2_Missense_Mutation_p.Q446K|CPEB1_uc010uof.1_Missense_Mutation_p.Q344K|CPEB1_uc002biv.2_Missense_Mutation_p.Q419K|CPEB1_uc002bip.2_Missense_Mutation_p.Q193K	p.Q484K	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		9	1587	-			424			Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1450C>A		.	.	.	.	.	.	.	.	.	.	G	23.8	4.454382	0.84209	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	T	0.24431	0.0592	M	0.69823	2.125	0.80722	D	1	D;D;B;D	0.62365	0.991;0.991;0.216;0.991	P;P;B;P	0.53593	0.73;0.73;0.171;0.73	T	0.00040	-1.2238	10	0.59425	D	0.04	-9.184	20.5407	0.99260	0.0:0.0:1.0:0.0	.	422;419;424;419	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	K	419;419;344;349;422;193	ENSP00000397526:Q344K;ENSP00000381591:Q349K;ENSP00000261723:Q422K;ENSP00000381592:Q193K	ENSP00000261723:Q422K	Q	-	1	0	CPEB1	81015409	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.793000	0.99091	2.865000	0.98341	0.655000	0.94253	CAG		PASS	0.552	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		26	31	26	31	---	---	---	---
ACAN	176	broad.mit.edu	37	15	89400176	89400176	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:89400176G>A	ENST00000561243.1	+	11	4360	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R	ACAN_ENST00000439576.2_Missense_Mutation_p.G1454R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1454R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1454R			P16112	PGCA_HUMAN	aggrecan	1457	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.G1340R(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTTCCTTCTGGAGAAGTTCT	0.517																																						uc010upo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(4360-4362)GGA>AGA		aggrecan isoform 2 precursor							103.0	103.0	103.0					15																	89400176		1835	4086	5921	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400176G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4360G>A	15.37:g.89400176G>A	ENSP00000453342:p.Gly1454Arg					ACAN_uc010upp.1_Missense_Mutation_p.G1454R|ACAN_uc002bna.2_RNA	p.G1454R	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4734	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1454					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.4360G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	-	17.36	3.370815	0.61624	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97016	-4.21;-4.21	3.53	2.6	0.31112	.	.	.	.	.	D	0.97695	0.9244	M	0.85373	2.75	0.26862	N	0.967934	P;D	0.89917	0.609;1.0	B;D	0.97110	0.235;1.0	D	0.92160	0.5735	9	0.56958	D	0.05	1.7998	7.761	0.28953	0.124:0.0:0.876:0.0	.	1454;1454	E7ENV9;E7EX88	.;.	R	1454;1454;1340	ENSP00000387356:G1454R;ENSP00000341615:G1454R	ENSP00000268134:G1340R	G	+	1	0	ACAN	87201180	0.495000	0.26051	0.212000	0.23672	0.102000	0.19082	1.336000	0.33850	0.798000	0.33994	0.313000	0.20887	GGA		PASS	0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		60	102	60	102	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91157683	91157683	+	Splice_Site	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:91157683A>G	ENST00000268184.6	+	7	581		c.e7-1		CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000420329.2_Splice_Site			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3						energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.?(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTTTCCCGCTAGGTTTCTGTG	0.333			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	1	Unknown(1)		lung(1)	salivary_gland(26)|ovary(1)	27						c.e7-2		transducer of regulated CREB protein 3 isoform							178.0	156.0	163.0					15																	91157683		2198	4298	6496	SO:0001630	splice_region_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91157683A>G		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.578-1A>G	15.37:g.91157683A>G						CRTC3_uc002bpo.2_Splice_Site_p.G193_splice	p.G193_splice	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		7	684	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)							Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Splice_Site	SNP	ENST00000268184.6	37	c.578_splice	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343666	0.24339	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8049	0.40786	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRTC3	88958687	0.991000	0.36638	0.900000	0.35374	0.442000	0.32017	3.873000	0.56093	1.903000	0.55091	0.397000	0.26171	.		PASS	0.333	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769	Intron	19	32	19	32	---	---	---	---
ARRDC4	91947	broad.mit.edu	37	15	98512595	98512595	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:98512595G>T	ENST00000268042.6	+	5	1032	c.868G>T	c.(868-870)Gac>Tac	p.D290Y	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D203Y	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	290					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.D290Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATCAGAGTGGACTATTCCTT	0.403																																						uc010bom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)GAC>TAC		arrestin domain containing 4							95.0	85.0	89.0					15																	98512595		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98512595G>T	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.868G>T	15.37:g.98512595G>T	ENSP00000268042:p.Asp290Tyr					ARRDC4_uc002bui.3_Missense_Mutation_p.D203Y	p.D290Y	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	1027	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		290					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.868G>T	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692795	0.68271	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.17854	2.25;2.25	5.11	4.18	0.49190	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.230996	0.38005	N	0.001842	T	0.29524	0.0736	M	0.79011	2.435	0.45634	D	0.998561	P;B	0.34562	0.457;0.402	B;B	0.40101	0.319;0.213	T	0.19484	-1.0304	10	0.87932	D	0	-48.9129	15.7399	0.77887	0.0:0.1373:0.8627:0.0	.	290;203	Q8NCT1;F5H824	ARRD4_HUMAN;.	Y	203;290	ENSP00000443774:D203Y;ENSP00000268042:D290Y	ENSP00000268042:D290Y	D	+	1	0	ARRDC4	96313599	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.671000	0.74472	1.254000	0.44035	0.591000	0.81541	GAC		PASS	0.403	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		6	39	6	39	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101598339	101598339	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:101598339G>A	ENST00000388948.3	+	29	5031	c.4672G>A	c.(4672-4674)Gag>Aag	p.E1558K	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.E1555K	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.E1558K(1)|p.E1570K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAAAAGAGGAGTCCAGGTA	0.557																																						uc002bwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(4672-4674)GAG>AAG		leucine-rich repeat kinase 1							53.0	53.0	53.0					15																	101598339		1934	4127	6061	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101598339G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4672G>A	15.37:g.101598339G>A	ENSP00000373600:p.Glu1558Lys					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	p.E1558K	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		29	4991	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1558						Missense_Mutation	SNP	ENST00000388948.3	37	c.4672G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320760	0.60634	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70282	-0.47;-0.47	4.57	4.57	0.56435	.	0.281688	0.33753	N	0.004583	T	0.50394	0.1613	N	0.24115	0.695	0.29752	N	0.836253	P	0.38922	0.651	B	0.33521	0.165	T	0.49093	-0.8975	10	0.13853	T	0.58	.	11.2955	0.49276	0.0844:0.0:0.9156:0.0	.	1558	Q38SD2	LRRK1_HUMAN	K	1558;1555;249;112	ENSP00000373600:E1558K;ENSP00000284395:E1555K	ENSP00000284395:E1555K	E	+	1	0	LRRK1	99415862	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	5.354000	0.66040	2.261000	0.74972	0.561000	0.74099	GAG		PASS	0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		5	21	5	21	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2156207	2156207	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:2156207C>A	ENST00000262304.4	-	19	7796	c.7588G>T	c.(7588-7590)Ggc>Tgc	p.G2530C	PKD1_ENST00000423118.1_Missense_Mutation_p.G2530C|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2530	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.G2530C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAGAGGCTGCCCTTGTAGACA	0.692																																						uc002cos.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(7588-7590)GGC>TGC		polycystin 1 isoform 1 precursor							22.0	28.0	26.0					16																	2156207		2172	4273	6445	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2156207C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7588G>T	16.37:g.2156207C>A	ENSP00000262304:p.Gly2530Cys					PKD1_uc002cot.1_Missense_Mutation_p.G2530C|PKD1_uc010bse.1_5'Flank	p.G2530C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			19	7797	-			2530			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.7588G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.340246	0.81911	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.76578	-1.03;-1.03	5.14	5.14	0.70334	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90434	0.4426	10	0.87932	D	0	.	18.6836	0.91556	0.0:1.0:0.0:0.0	.	2530;2530	P98161-3;P98161	.;PKD1_HUMAN	C	2530;2530;1881;809	ENSP00000262304:G2530C;ENSP00000399501:G2530C	ENSP00000262304:G2530C	G	-	1	0	PKD1	2096208	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.317000	0.79018	2.404000	0.81709	0.544000	0.68410	GGC		PASS	0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	1	4	1	---	---	---	---
USP7	7874	broad.mit.edu	37	16	8993508	8993508	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:8993508C>A	ENST00000344836.4	-	22	2614	c.2416G>T	c.(2416-2418)Gat>Tat	p.D806Y	USP7_ENST00000381886.4_Missense_Mutation_p.D790Y|USP7_ENST00000535863.1_Missense_Mutation_p.D707Y	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	806					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D806Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AATCCAGGATCATTAGGGATT	0.373																																						uc002czl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2416-2418)GAT>TAT		ubiquitin specific peptidase 7							137.0	130.0	132.0					16																	8993508		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8993508C>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2416G>T	16.37:g.8993508C>A	ENSP00000343535:p.Asp806Tyr					USP7_uc010uyk.1_Missense_Mutation_p.D707Y|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.D707Y|USP7_uc002czk.2_Missense_Mutation_p.D790Y	p.D806Y	NM_003470	NP_003461	Q93009	UBP7_HUMAN			22	2615	-			806					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2416G>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991762	0.93106	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08193	3.12;3.13	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.00571	-1.1665	10	0.30078	T	0.28	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	806;790	Q93009;B7Z815	UBP7_HUMAN;.	Y	806;814;707;707	ENSP00000343535:D806Y;ENSP00000443646:D707Y	ENSP00000343535:D806Y	D	-	1	0	USP7	8901009	1.000000	0.71417	0.846000	0.33378	0.983000	0.72400	7.524000	0.81866	2.674000	0.91012	0.555000	0.69702	GAT		PASS	0.373	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			13	34	13	34	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9862768	9862768	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:9862768C>A	ENST00000396573.2	-	13	2844	c.2535G>T	c.(2533-2535)ctG>ctT	p.L845L	GRIN2A_ENST00000330684.3_Silent_p.L845L|GRIN2A_ENST00000396575.2_Silent_p.L845L|GRIN2A_ENST00000404927.2_Silent_p.L845L|GRIN2A_ENST00000535259.1_Silent_p.L688L|GRIN2A_ENST00000562109.1_Silent_p.L845L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	845					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.L845L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACAGAAGCGCAGCTTCCAGT	0.577																																						uc002czo.3																			1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2533-2535)CTG>CTT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						88.0	81.0	83.0					16																	9862768		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862768C>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2535G>T	16.37:g.9862768C>A						GRIN2A_uc010uym.1_Silent_p.L845L|GRIN2A_uc010uyn.1_Silent_p.L688L|GRIN2A_uc002czr.3_Silent_p.L845L	p.L845L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	3083	-			845			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2535G>T	CCDS10539.1																																																																																				PASS	0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			9	37	9	37	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18826808	18826808	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:18826808G>T	ENST00000446231.2	-	59	10880	c.10468C>A	c.(10468-10470)Cag>Aag	p.Q3490K	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3491K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3490					DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q3490K(1)|p.Q3486K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGATTTCCTGGAGCATTTCA	0.383																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10468-10470)CAG>AAG		PI-3-kinase-related kinase SMG-1							172.0	151.0	158.0					16																	18826808		1872	4112	5984	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18826808G>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10468C>A	16.37:g.18826808G>T	ENSP00000402515:p.Gln3490Lys					SMG1_uc010bwb.2_Missense_Mutation_p.Q3350K|SMG1_uc010bwa.2_Missense_Mutation_p.Q2221K	p.Q3490K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			59	10831	-			3490					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10468C>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.229966	0.58777	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01015	5.44;5.44	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000008	T	0.01222	0.0040	L	0.43152	1.355	0.42205	D	0.991782	B	0.30914	0.3	B	0.26094	0.066	T	0.55872	-0.8072	10	0.02654	T	1	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	3490	Q96Q15	SMG1_HUMAN	K	3490;3491	ENSP00000402515:Q3490K;ENSP00000374118:Q3491K	ENSP00000374118:Q3491K	Q	-	1	0	SMG1	18734309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.125000	0.77193	2.835000	0.97688	0.650000	0.86243	CAG		PASS	0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	61	5	61	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18856853	18856853	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:18856853C>A	ENST00000446231.2	-	39	6529	c.6117G>T	c.(6115-6117)tgG>tgT	p.W2039C	SMG1_ENST00000389467.3_Missense_Mutation_p.W2039C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2039					DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.W2039C(1)|p.W2035C(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TATCCTGAAACCATTTTTCAT	0.458																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6115-6117)TGG>TGT		PI-3-kinase-related kinase SMG-1							111.0	102.0	105.0					16																	18856853		1864	4104	5968	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18856853C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6117G>T	16.37:g.18856853C>A	ENSP00000402515:p.Trp2039Cys					SMG1_uc010bwb.2_Missense_Mutation_p.W1899C|SMG1_uc010bwa.2_Missense_Mutation_p.W770C|SMG1_uc002dfo.3_Missense_Mutation_p.W337C	p.W2039C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			39	6480	-			2039					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6117G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410350	0.62399	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01172	5.23;5.23	5.98	5.98	0.97165	Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	T	0.07818	0.0196	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	T	0.01935	-1.1244	10	0.51188	T	0.08	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	1899;2039	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	C	2039	ENSP00000402515:W2039C;ENSP00000374118:W2039C	ENSP00000374118:W2039C	W	-	3	0	SMG1	18764354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.838000	0.97847	0.655000	0.94253	TGG		PASS	0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		23	40	23	40	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043574	20043574	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:20043574A>G	ENST00000570682.1	-	2	845	c.545T>C	c.(544-546)gTc>gCc	p.V182A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	182					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)	p.V182A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCAGATGAGGACGTGATGCAC	0.488																																						uc002dgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)GTC>GCC		G protein-coupled receptor 139							131.0	101.0	111.0					16																	20043574		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043574A>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.545T>C	16.37:g.20043574A>G	ENSP00000458791:p.Val182Ala					GPR139_uc010vaw.1_Missense_Mutation_p.V89A	p.V182A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN			2	707	-			182			Helical; Name=5; (Potential).		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.545T>C	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.697183	0.30142	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.328049	0.32563	N	0.005922	T	0.29749	0.0743	N	0.08118	0	0.40338	D	0.979003	B	0.15473	0.013	B	0.21151	0.033	T	0.08597	-1.0714	9	0.11794	T	0.64	-53.8162	10.9208	0.47163	0.9267:0.0:0.0733:0.0	.	182	Q6DWJ6	GP139_HUMAN	A	182	.	ENSP00000370779:V182A	V	-	2	0	GPR139	19951075	1.000000	0.71417	0.888000	0.34837	0.614000	0.37383	6.946000	0.75953	1.002000	0.39104	0.533000	0.62120	GTC		PASS	0.488	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		11	21	11	21	---	---	---	---
CHP2	63928	broad.mit.edu	37	16	23768853	23768853	+	Silent	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:23768853C>G	ENST00000300113.2	+	7	963	c.540C>G	c.(538-540)tcC>tcG	p.S180S		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	180	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S180S(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TCCCTCAGTCCTTAGAGAAGA	0.522																																						uc002dmb.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(538-540)TCC>TCG		hepatocellular carcinoma antigen gene 520							200.0	182.0	188.0					16																	23768853		2197	4300	6497	SO:0001819	synonymous_variant	63928						calcium ion binding	g.chr16:23768853C>G		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.540C>G	16.37:g.23768853C>G							p.S180S	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	7	963	+			180			EF-hand 4.		A8K2I8	Silent	SNP	ENST00000300113.2	37	c.540C>G	CCDS10617.1																																																																																				PASS	0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		49	113	49	113	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29906726	29906726	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:29906726C>G	ENST00000308713.5	-	5	1234	c.707G>C	c.(706-708)gGa>gCa	p.G236A	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G166A|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G192A|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	236	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G236A(1)|p.G166A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGGGGATCCCCCACCAGC	0.627																																						uc002duq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(706-708)GGA>GCA		seizure related 6 homolog (mouse)-like 2 isoform							41.0	50.0	47.0					16																	29906726		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29906726C>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.707G>C	16.37:g.29906726C>G	ENSP00000312550:p.Gly236Ala					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dur.3_Missense_Mutation_p.G166A|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.G236A|SEZ6L2_uc010ved.1_Missense_Mutation_p.G192A	p.G236A	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			5	947	-			236			CUB 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.707G>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	18.13	3.555933	0.65425	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.41758	0.99;0.99;0.99	5.22	5.22	0.72569	CUB (5);	0.000000	0.48767	D	0.000179	T	0.55114	0.1900	L	0.50333	1.59	0.53005	D	0.999969	D;P;D;D;P	0.76494	0.982;0.945;0.999;0.995;0.932	P;P;D;D;P	0.69307	0.854;0.706;0.963;0.949;0.582	T	0.53201	-0.8472	10	0.45353	T	0.12	.	11.7866	0.52045	0.0:0.9146:0.0:0.0854	.	192;236;166;236;166	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	A	166;236;192	ENSP00000310206:G166A;ENSP00000312550:G236A;ENSP00000439412:G192A	ENSP00000312550:G236A	G	-	2	0	SEZ6L2	29814227	0.925000	0.31364	0.954000	0.39281	0.377000	0.30045	3.354000	0.52254	2.434000	0.82447	0.586000	0.80456	GGA		PASS	0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		7	12	7	12	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30522395	30522395	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:30522395G>T	ENST00000356798.6	+	24	2904	c.2724G>T	c.(2722-2724)ctG>ctT	p.L908L	ITGAL_ENST00000433423.2_Silent_p.L142L|ITGAL_ENST00000358164.5_Silent_p.L824L	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	908					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.L908L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CAGACCTCCTGGAGGACAACT	0.562																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(2722-2724)CTG>CTT		integrin alpha L isoform a precursor	Efalizumab(DB00095)						192.0	166.0	175.0					16																	30522395		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522395G>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2724G>T	16.37:g.30522395G>T						ITGAL_uc002dyj.3_Silent_p.L824L|ITGAL_uc010vev.1_Silent_p.L142L	p.L908L	NM_002209	NP_002200	P20701	ITAL_HUMAN			24	2900	+			908			Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.2724G>T	CCDS32433.1																																																																																				PASS	0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			26	39	26	39	---	---	---	---
FBXL19	54620	broad.mit.edu	37	16	30941629	30941629	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:30941629G>T	ENST00000380310.2	+	7	1243	c.1085G>T	c.(1084-1086)gGc>gTc	p.G362V	FBXL19_ENST00000471231.2_Missense_Mutation_p.G50V|FBXL19_ENST00000338343.4_Missense_Mutation_p.G342V|FBXL19_ENST00000562319.1_Missense_Mutation_p.G342V|FBXL19_ENST00000565690.1_Missense_Mutation_p.G226V	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	362					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G192V(1)|p.G362V(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGCAGCTCTGGCGAGAAGGAG	0.736																																						uc002eab.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)	4						c.(1084-1086)GGC>GTC		F-box and leucine-rich repeat protein 19							12.0	13.0	13.0					16																	30941629		1635	3734	5369	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30941629G>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1085G>T	16.37:g.30941629G>T	ENSP00000369666:p.Gly362Val					FBXL19_uc002dzz.1_Missense_Mutation_p.G50V|FBXL19_uc002eaa.1_Missense_Mutation_p.G261V	p.G362V	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			7	1243	+			362					A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1085G>T	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826234|3.826234	0.71143|0.71143	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000338343;ENST00000380310|ENST00000427128	T;T|.	0.23348|.	1.91;2.23|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.435149|.	0.24014|.	N|.	0.042355|.	T|T	0.49643|0.49643	0.1569|0.1569	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	P;P|.	0.43477|.	0.808;0.764|.	B;B|.	0.39027|.	0.288;0.226|.	T|T	0.43491|0.43491	-0.9388|-0.9388	10|5	0.36615|.	T|.	0.2|.	-15.5671|-15.5671	11.9234|11.9234	0.52806|0.52806	0.0841:0.0:0.9159:0.0|0.0841:0.0:0.9159:0.0	.|.	362;319|.	Q6PCT2;Q6PCT2-2|.	FXL19_HUMAN;.|.	V|C	342;362|253	ENSP00000339712:G342V;ENSP00000369666:G362V|.	ENSP00000339712:G342V|.	G|W	+|+	2|3	0|0	FBXL19|FBXL19	30849130|30849130	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.976000|2.976000	0.49289|0.49289	2.490000|2.490000	0.84030|0.84030	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.736	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		6	7	6	7	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55530863	55530863	+	Missense_Mutation	SNP	C	C	A	rs371281054		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:55530863C>A	ENST00000219070.4	+	10	2007	c.1498C>A	c.(1498-1500)Cgt>Agt	p.R500S	MMP2_ENST00000437642.2_Missense_Mutation_p.R450S|MMP2_ENST00000570308.1_Missense_Mutation_p.R424S|MMP2_ENST00000543485.1_Missense_Mutation_p.R424S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	500	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R500S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTGACGCCACGTGACAAGCC	0.602																																						uc002ehz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1498-1500)CGT>AGT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						63.0	57.0	59.0					16																	55530863		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55530863C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1498C>A	16.37:g.55530863C>A	ENSP00000219070:p.Arg500Ser					MMP2_uc010vhd.1_Missense_Mutation_p.R424S|MMP2_uc010ccc.2_Missense_Mutation_p.R450S|MMP2_uc002eia.3_5'UTR	p.R500S	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	10	1809	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	500			Required for inhibitor TIMP2 binding.|Hemopexin-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1498C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365971	0.41902	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02656	4.21;4.21;4.21	6.07	-4.53	0.03462	Hemopexin/matrixin (2);	0.340948	0.33092	N	0.005289	T	0.03136	0.0092	L	0.58510	1.815	0.09310	N	0.999992	B;P	0.38565	0.082;0.637	B;B	0.38156	0.069;0.266	T	0.38628	-0.9652	10	0.22109	T	0.4	.	11.9414	0.52903	0.362:0.3099:0.3281:0.0	.	450;500	E9PE45;P08253	.;MMP2_HUMAN	S	500;424;450	ENSP00000219070:R500S;ENSP00000444143:R424S;ENSP00000394237:R450S	ENSP00000219070:R500S	R	+	1	0	MMP2	54088364	0.003000	0.15002	0.000000	0.03702	0.826000	0.46750	0.245000	0.18142	-0.423000	0.07394	0.655000	0.94253	CGT		PASS	0.602	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			11	21	11	21	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	69074319	69074319	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:69074319A>T	ENST00000261778.1	+	17	3115	c.3103A>T	c.(3103-3105)Act>Tct	p.T1035S	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1035						integral component of membrane (GO:0016021)		p.T564S(1)|p.T1035S(1)									CCAGAAAGCTACTGAGGTCAG	0.483																																						uc002ewi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3103-3105)ACT>TCT		transmembrane and coiled-coil domains 7							108.0	101.0	103.0					16																	69074319		1998	4182	6180	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:69074319A>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3103A>T	16.37:g.69074319A>T	ENSP00000261778:p.Thr1035Ser						p.T1035S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	17	3115	+		Ovarian(137;0.0568)	1035					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.3103A>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282578	0.59867	.	.	ENSG00000103047	ENST00000261778	T	0.62788	0.0	5.81	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.097990	0.64402	D	0.000001	T	0.65585	0.2705	L	0.46157	1.445	0.44946	D	0.997963	D	0.76494	0.999	D	0.63793	0.918	T	0.62086	-0.6928	10	0.08837	T	0.75	-6.8449	9.9367	0.41556	0.8291:0.1709:0.0:0.0	.	1035	Q9C0B7	TMCO7_HUMAN	S	1035	ENSP00000261778:T1035S	ENSP00000261778:T1035S	T	+	1	0	TMCO7	67631820	0.970000	0.33590	0.987000	0.45799	0.980000	0.70556	2.364000	0.44187	0.989000	0.38761	0.523000	0.50628	ACT		PASS	0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		9	4	9	4	---	---	---	---
ZNF23	7571	broad.mit.edu	37	16	71483409	71483409	+	Silent	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:71483409T>C	ENST00000393539.2	-	6	1332	c.519A>G	c.(517-519)ttA>ttG	p.L173L	ZNF23_ENST00000357254.4_Silent_p.L173L|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.L115L|ZNF23_ENST00000417828.1_Silent_p.L173L|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Silent_p.L115L|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	173					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.L173L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGGGCTCTACTAATTCTTCAC	0.403																																						uc002faf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)TTA>TTG		zinc finger protein 23							74.0	80.0	78.0					16																	71483409		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483409T>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.519A>G	16.37:g.71483409T>C						ZNF23_uc002fad.2_Silent_p.L115L|ZNF23_uc002fae.2_Silent_p.L115L|ZNF23_uc010vmf.1_Silent_p.L115L|ZNF23_uc002fag.2_Silent_p.L115L|ZNF23_uc002fah.2_Silent_p.L173L|ZNF23_uc002fai.2_Silent_p.L212L	p.L173L	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1333	-		Ovarian(137;0.00768)	173			C2H2-type 1; degenerate.		Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.519A>G	CCDS10900.1																																																																																				PASS	0.403	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		15	25	15	25	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72141386	72141386	+	Silent	SNP	G	G	T	rs561045095		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:72141386G>T	ENST00000268482.3	+	20	3257	c.2748G>T	c.(2746-2748)ccG>ccT	p.P916P	DHX38_ENST00000536867.1_Silent_p.P228P	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	916					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P916P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACCCGCCCCCGGAGGACAACA	0.632																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2746-2748)CCG>CCT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							43.0	43.0	43.0					16																	72141386		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72141386G>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2748G>T	16.37:g.72141386G>T						DHX38_uc010vmp.1_Silent_p.P228P	p.P916P	NM_014003	NP_054722	Q92620	PRP16_HUMAN			20	3103	+		Ovarian(137;0.125)	916					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2748G>T	CCDS10907.1																																																																																				PASS	0.632	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		15	11	15	11	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821528	72821528	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:72821528C>A	ENST00000268489.5	-	10	11319	c.10647G>T	c.(10645-10647)gaG>gaT	p.E3549D	ZFHX3_ENST00000397992.5_Missense_Mutation_p.E2635D|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3549					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.E3549D(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)				GCAAGGCCGACTCGAGATGTT	0.627																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(10645-10647)GAG>GAT		zinc finger homeobox 3 isoform A							364.0	283.0	311.0					16																	72821528		2198	4300	6498	SO:0001583	missense	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.chr16:72821528C>A	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.10647G>T	16.37:g.72821528C>A	ENSP00000268489:p.Glu3549Asp					uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Missense_Mutation_p.E2635D	p.E3549D	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11320	-		Ovarian(137;0.13)	3549			C2H2-type 22.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.10647G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	4.957	0.177760	0.09443	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.82619	-1.63;-1.63	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.50627	D	0.000111	T	0.70806	0.3266	N	0.12182	0.205	0.47374	D	0.999409	B	0.12630	0.006	B	0.06405	0.002	T	0.66874	-0.5813	10	0.39692	T	0.17	.	16.949	0.86239	0.0:1.0:0.0:0.0	.	3549	Q15911	ZFHX3_HUMAN	D	3549;2635	ENSP00000268489:E3549D;ENSP00000438926:E2635D	ENSP00000268489:E3549D	E	-	3	2	ZFHX3	71379029	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	2.764000	0.47613	2.058000	0.61347	0.557000	0.71058	GAG		PASS	0.627	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		43	78	43	78	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75149456	75149456	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:75149456A>T	ENST00000450168.2	-	2	225	c.175T>A	c.(175-177)Tcg>Acg	p.S59T	LDHD_ENST00000300051.4_Missense_Mutation_p.S59T	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.S59T(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CTGTGCACCGACTCATCGCGC	0.647																																						uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)TCG>ACG		D-lactate dehydrogenase isoform 1 precursor							28.0	33.0	32.0					16																	75149456		2196	4300	6496	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149456A>T	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.175T>A	16.37:g.75149456A>T	ENSP00000417011:p.Ser59Thr					LDHD_uc002fdn.2_Missense_Mutation_p.S59T	p.S59T	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			2	222	-			59						Missense_Mutation	SNP	ENST00000450168.2	37	c.175T>A	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254969	0.59321	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	T;T	0.41758	0.99;0.99	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.35593	1.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.939	T	0.42766	-0.9432	10	0.26408	T	0.33	-15.4576	14.4869	0.67624	1.0:0.0:0.0:0.0	.	59;59	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	T	59	ENSP00000417011:S59T;ENSP00000300051:S59T	ENSP00000300051:S59T	S	-	1	0	LDHD	73706957	1.000000	0.71417	0.985000	0.45067	0.591000	0.36615	6.573000	0.74009	1.921000	0.55644	0.459000	0.35465	TCG		PASS	0.647	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		3	4	3	4	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78198080	78198080	+	Splice_Site	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:78198080G>T	ENST00000566780.1	+	5	776	c.410G>T	c.(409-411)gGg>gTg	p.G137V	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Splice_Site_p.G137V|WWOX_ENST00000355860.3_Splice_Site_p.G137V|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000408984.3_Splice_Site_p.G137V|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	137	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.G137V(2)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TAAACCATAGGGTTCGAAACC	0.453																																						uc002ffk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(409-411)GGG>GTG		WW domain-containing oxidoreductase isoform 1							108.0	104.0	105.0					16																	78198080		1947	4138	6085	SO:0001630	splice_region_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78198080G>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.410-1G>T	16.37:g.78198080G>T						WWOX_uc010vnk.1_Missense_Mutation_p.G24V|WWOX_uc002ffl.2_Missense_Mutation_p.G137V|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.G137V	p.G137V	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	5	535	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	137			NADP (By similarity).|Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.410G>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690118	0.29962	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000406884	T;D;D	0.90504	-1.27;-2.68;-2.68	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.124464	0.56097	D	0.000039	D	0.97779	0.9271	H	0.99545	4.62	0.80722	D	1	P;D;D	0.89917	0.521;1.0;0.994	B;D;D	0.91635	0.158;0.999;0.941	D	0.99482	1.0948	9	.	.	.	.	18.3289	0.90262	0.0:0.0:1.0:0.0	.	137;137;137	Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;WWOX_HUMAN;.	V	137	ENSP00000386161:G137V;ENSP00000348119:G137V;ENSP00000384495:G137V	.	G	+	2	0	WWOX	76755581	1.000000	0.71417	0.820000	0.32676	0.155000	0.21991	7.051000	0.76627	2.623000	0.88846	0.655000	0.94253	GGG		PASS	0.453	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		Missense_Mutation	10	16	10	16	---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84486818	84486818	+	Nonsense_Mutation	SNP	G	G	T	rs375405912		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr16:84486818G>T	ENST00000262429.4	+	19	1995	c.1906G>T	c.(1906-1908)Gag>Tag	p.E636*	ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.E636*|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	636					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E636*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGAGAAGGGCGAGCTGGCCGA	0.622																																						uc002fhx.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1906-1908)GAG>TAG		ATPase, Ca++ transporting, type 2C, member 2							63.0	72.0	69.0					16																	84486818		2061	4188	6249	SO:0001587	stop_gained	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84486818G>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1906G>T	16.37:g.84486818G>T	ENSP00000262429:p.Glu636*					ATP2C2_uc010chj.2_Nonsense_Mutation_p.E636*|ATP2C2_uc002fhy.2_Nonsense_Mutation_p.E653*|ATP2C2_uc002fhz.2_Nonsense_Mutation_p.E485*	p.E636*	NM_014861	NP_055676	O75185	AT2C2_HUMAN			19	1995	+			636			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	ENST00000262429.4	37	c.1906G>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	38	6.875309	0.97904	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	5.22	-0.845	0.10737	.	0.545543	0.18604	N	0.136364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	5.0402	0.14454	0.3276:0.2846:0.3878:0.0	.	.	.	.	X	636;636;485	.	ENSP00000262429:E636X	E	+	1	0	ATP2C2	83044319	0.042000	0.20092	0.005000	0.12908	0.009000	0.06853	0.312000	0.19397	-0.403000	0.07622	-0.311000	0.09066	GAG		PASS	0.622	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		3	15	3	15	---	---	---	---
OR1G1	8390	broad.mit.edu	37	17	3030761	3030761	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:3030761C>T	ENST00000328890.2	-	1	114	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	29					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.G29R(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGGAAGGACCCAAAGAGGGGC	0.493																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GGG>AGG		olfactory receptor, family 1, subfamily G,							97.0	94.0	95.0					17																	3030761		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030761C>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.85G>A	17.37:g.3030761C>T	ENSP00000331545:p.Gly29Arg						p.G29R	NM_003555	NP_003546	P47890	OR1G1_HUMAN			1	85	-			29			Helical; Name=1; (Potential).		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.85G>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156831	0.38119	.	.	ENSG00000183024	ENST00000328890	T	0.00433	7.43	4.4	-0.35	0.12606	.	.	.	.	.	T	0.00524	0.0017	H	0.94462	3.54	0.09310	N	1	B	0.29716	0.255	B	0.24394	0.053	T	0.44314	-0.9336	9	0.72032	D	0.01	.	1.334	0.02141	0.3935:0.3016:0.1325:0.1723	.	29	P47890	OR1G1_HUMAN	R	29	ENSP00000331545:G29R	ENSP00000331545:G29R	G	-	1	0	OR1G1	2977511	0.000000	0.05858	0.002000	0.10522	0.660000	0.38997	-1.100000	0.03339	0.129000	0.18514	0.530000	0.56133	GGG		PASS	0.493	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			48	49	48	49	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7644287	7644287	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:7644287C>G	ENST00000572933.1	+	11	3126	c.1666C>G	c.(1666-1668)Cgt>Ggt	p.R556G	DNAH2_ENST00000570791.1_Missense_Mutation_p.R638G|DNAH2_ENST00000082259.3_Missense_Mutation_p.R638G|DNAH2_ENST00000389173.2_Missense_Mutation_p.R556G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	556	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R556G(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATCCTCCGGCGTCGCATCGA	0.607																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1666-1668)CGT>GGT		dynein heavy chain domain 3							81.0	77.0	78.0					17																	7644287		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644287C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1666C>G	17.37:g.7644287C>G	ENSP00000458355:p.Arg556Gly					DNAH2_uc002git.2_Missense_Mutation_p.R638G|DNAH2_uc010vuk.1_Missense_Mutation_p.R556G	p.R556G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			10	1680	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	556			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.1666C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259025	0.23051	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.57595	0.39;0.39	5.23	4.26	0.50523	Dynein heavy chain, domain-1 (1);	0.455031	0.23159	N	0.051274	T	0.60869	0.2302	M	0.72894	2.215	0.22050	N	0.999395	B;D	0.55800	0.053;0.973	B;P	0.50896	0.175;0.653	T	0.57057	-0.7876	10	0.52906	T	0.07	.	12.9477	0.58382	0.0:0.9197:0.0:0.0803	.	556;638	Q9P225;Q9P225-3	DYH2_HUMAN;.	G	556;556;638	ENSP00000373825:R556G;ENSP00000082259:R638G	ENSP00000082259:R638G	R	+	1	0	DNAH2	7585012	0.444000	0.25649	0.937000	0.37676	0.029000	0.11900	2.048000	0.41278	1.225000	0.43566	-0.252000	0.11476	CGT		PASS	0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	33	26	33	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9923211	9923211	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:9923211G>T	ENST00000432992.2	-	2	347	c.187C>A	c.(187-189)Cct>Act	p.P63T	GAS7_ENST00000585266.1_Missense_Mutation_p.P3T|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000323816.4_Missense_Mutation_p.P3T|GAS7_ENST00000540214.1_5'UTR|GAS7_ENST00000542249.1_5'UTR|GAS7_ENST00000437099.2_5'UTR|GAS7_ENST00000396115.2_5'UTR|GAS7_ENST00000579158.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	63					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P63T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ACCATTCCAGGCTTCTGTTGG	0.532			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(187-189)CCT>ACT		growth arrest-specific 7 isoform c							37.0	42.0	40.0					17																	9923211		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923211G>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.187C>A	17.37:g.9923211G>T	ENSP00000407552:p.Pro63Thr					GAS7_uc010vvd.1_Missense_Mutation_p.P15T|GAS7_uc002gmi.2_5'UTR|GAS7_uc002gmj.1_Missense_Mutation_p.P3T|GAS7_uc010coh.1_Missense_Mutation_p.P3T	p.P63T	NM_201433	NP_958839	O60861	GAS7_HUMAN			2	348	-			63					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.187C>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813545	0.70912	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000537970	T;T	0.20598	2.15;2.06	5.02	5.02	0.67125	Src homology-3 domain (1);	0.000000	0.35585	U	0.003119	T	0.34164	0.0888	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73708	0.981;0.981;0.981	T	0.01496	-1.1340	9	.	.	.	-1.4544	15.3829	0.74673	0.0:0.0:1.0:0.0	.	15;3;63	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	T	63;3;2;3	ENSP00000322608:P63T;ENSP00000379421:P3T	.	P	-	1	0	GAS7	9863936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.023000	0.57211	2.620000	0.88729	0.563000	0.77884	CCT		PASS	0.532	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		8	21	8	21	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10303705	10303705	+	Splice_Site	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:10303705A>G	ENST00000403437.2	-	27	3830		c.e27+1		RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.?(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTATTGGGTACCTTGGCTTT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Unknown(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.e27+1		myosin, heavy chain 8, skeletal muscle,							190.0	182.0	185.0					17																	10303705		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303705A>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3735+1T>C	17.37:g.10303705A>G						uc002gml.1_Intron	p.K1245_splice	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3830	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37	c.3735_splice	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416924	0.42918	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7623	0.78096	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10244430	1.000000	0.71417	0.972000	0.41901	0.427000	0.31564	8.814000	0.91968	2.311000	0.77944	0.533000	0.62120	.		PASS	0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	5	119	5	119	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10360881	10360881	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:10360881A>C	ENST00000255381.2	-	16	1863	c.1753T>G	c.(1753-1755)Tat>Gat	p.Y585D	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	585	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.Y585D(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGCCGGCATAGTGCACCAGT	0.522																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(1753-1755)TAT>GAT		myosin, heavy polypeptide 4, skeletal muscle							141.0	140.0	140.0					17																	10360881		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10360881A>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1753T>G	17.37:g.10360881A>C	ENSP00000255381:p.Tyr585Asp					uc002gml.1_Intron	p.Y585D	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			16	1864	-			585			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.1753T>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214875	0.58452	.	.	ENSG00000141048	ENST00000255381	D	0.93247	-3.19	5.01	5.01	0.66863	Myosin head, motor domain (2);	0.000000	0.34245	U	0.004121	D	0.98541	0.9513	H	0.99963	5.08	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	D	0.99116	1.0848	10	0.87932	D	0	.	15.0281	0.71684	1.0:0.0:0.0:0.0	.	585	Q9Y623	MYH4_HUMAN	D	585	ENSP00000255381:Y585D	ENSP00000255381:Y585D	Y	-	1	0	MYH4	10301606	1.000000	0.71417	0.997000	0.53966	0.223000	0.24884	9.004000	0.93583	2.020000	0.59435	0.459000	0.35465	TAT		PASS	0.522	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		52	21	52	21	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10432170	10432170	+	Missense_Mutation	SNP	G	G	T	rs368068850		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:10432170G>T	ENST00000245503.5	-	27	3965	c.3581C>A	c.(3580-3582)aCa>aAa	p.T1194K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1194K|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1194					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1194K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTGGCCGCTGTGGCTTCATG	0.577																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3580-3582)ACA>AAA		myosin heavy chain IIa							109.0	107.0	108.0					17																	10432170		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432170G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3581C>A	17.37:g.10432170G>T	ENSP00000245503:p.Thr1194Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1194K|MYH2_uc010coj.2_Intron	p.T1194K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			27	3709	-			1194			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3581C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862546	0.71949	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.78481	-1.18;-1.18	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.40385	U	0.001106	D	0.91590	0.7343	H	0.96398	3.815	0.80722	D	1	P	0.42735	0.788	P	0.58520	0.84	D	0.93486	0.6831	10	0.87932	D	0	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	1194	Q9UKX2	MYH2_HUMAN	K	1194	ENSP00000245503:T1194K;ENSP00000380367:T1194K	ENSP00000245503:T1194K	T	-	2	0	MYH2	10372895	1.000000	0.71417	0.962000	0.40283	0.653000	0.38743	7.552000	0.82192	2.707000	0.92482	0.655000	0.94253	ACA		PASS	0.577	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		15	71	15	71	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11572467	11572467	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:11572467G>A	ENST00000262442.4	+	16	2886	c.2818G>A	c.(2818-2820)Gga>Aga	p.G940R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G940R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	940	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G940R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGAGTCTGGAGTGAAGGG	0.483																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2818-2820)GGA>AGA		dynein, axonemal, heavy chain 9 isoform 2							152.0	150.0	151.0					17																	11572467		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572467G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2818G>A	17.37:g.11572467G>A	ENSP00000262442:p.Gly940Arg					DNAH9_uc010coo.2_Missense_Mutation_p.G234R	p.G940R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2886	+		Breast(5;0.0122)|all_epithelial(5;0.131)	940			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2818G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	6.541	0.468051	0.12461	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25250	1.85;1.81	5.41	3.31	0.37934	.	0.212991	0.38663	N	0.001609	T	0.20455	0.0492	L	0.47716	1.5	0.24320	N	0.995048	B	0.12013	0.005	B	0.13407	0.009	T	0.09574	-1.0668	10	0.19147	T	0.46	.	11.1043	0.48193	0.0709:0.0:0.7994:0.1298	.	940	Q9NYC9	DYH9_HUMAN	R	940	ENSP00000262442:G940R;ENSP00000414874:G940R	ENSP00000262442:G940R	G	+	1	0	DNAH9	11513192	1.000000	0.71417	0.063000	0.19743	0.063000	0.16089	3.770000	0.55310	2.530000	0.85305	0.655000	0.94253	GGA		PASS	0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	120	8	120	---	---	---	---
ZNF18	7566	broad.mit.edu	37	17	11896038	11896038	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:11896038G>A	ENST00000322748.3	-	4	713	c.109C>T	c.(109-111)Cct>Tct	p.P37S	ZNF18_ENST00000454073.3_Missense_Mutation_p.P37S|ZNF18_ENST00000580306.2_Missense_Mutation_p.P37S	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	37					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P37S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GCGGTCTCAGGGCTGGAGAGT	0.582																																						uc002gng.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(109-111)CCT>TCT		zinc finger protein 18							83.0	78.0	80.0					17																	11896038		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11896038G>A	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.109C>T	17.37:g.11896038G>A	ENSP00000315664:p.Pro37Ser					ZNF18_uc002gnh.1_Missense_Mutation_p.P37S|ZNF18_uc002gni.1_Missense_Mutation_p.P37S	p.P37S	NM_144680	NP_653281	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	4	714	-			37					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.109C>T	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024822	0.35701	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.05786	3.39;3.39	5.29	3.31	0.37934	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.45361	D	0.000379	T	0.11410	0.0278	L	0.49513	1.565	0.30395	N	0.780613	P;P	0.51933	0.949;0.911	P;P	0.58013	0.755;0.831	T	0.03818	-1.1001	10	0.11182	T	0.66	-3.7427	8.091	0.30801	0.1851:0.0:0.8149:0.0	.	37;37	P17022-2;P17022	.;ZNF18_HUMAN	S	37	ENSP00000391376:P37S;ENSP00000315664:P37S	ENSP00000315664:P37S	P	-	1	0	ZNF18	11836763	0.993000	0.37304	0.706000	0.30403	0.990000	0.78478	1.343000	0.33930	0.631000	0.30412	0.655000	0.94253	CCT		PASS	0.582	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		38	23	38	23	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	11984822	11984822	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:11984822C>A	ENST00000353533.5	+	3	431	c.368C>A	c.(367-369)cCa>cAa	p.P123Q	MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.P134Q	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.P123Q(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTCCACAAACCAAGTGGGCAA	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	uc002gnj.2				Rec	yes		17	17p11.2	6416	D|Mis|N	mitogen-activated protein kinase kinase 4			E			pancreatic|breast|colorectal		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.?(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1)	58						c.(367-369)CCA>CAA		mitogen-activated protein kinase kinase 4							82.0	72.0	75.0					17																	11984822		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11984822C>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.368C>A	17.37:g.11984822C>A	ENSP00000262445:p.Pro123Gln					MAP2K4_uc002gnk.2_Missense_Mutation_p.P134Q|MAP2K4_uc010vvi.1_Missense_Mutation_p.P5Q|MAP2K4_uc010vvj.1_Intron|MIR744_hsa-mir-744|MI0005559_5'Flank	p.P123Q	NM_003010	NP_003001	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	3	437	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	123			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.368C>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423709	0.25639	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.64438	-0.1;-0.1	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099160	0.64402	D	0.000001	T	0.49525	0.1562	L	0.31526	0.94	0.80722	D	1	B;B	0.15930	0.005;0.015	B;B	0.19148	0.009;0.024	T	0.45454	-0.9260	10	0.07482	T	0.82	.	18.0133	0.89231	0.0:1.0:0.0:0.0	.	134;123	P45985-2;P45985	.;MP2K4_HUMAN	Q	123;134;100	ENSP00000262445:P123Q;ENSP00000410402:P134Q	ENSP00000262445:P123Q	P	+	2	0	MAP2K4	11925547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.628000	0.89032	0.561000	0.74099	CCA		PASS	0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			5	48	5	48	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12664015	12664015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:12664015G>T	ENST00000343344.4	+	12	2236	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	MYOCD_ENST00000425538.1_Nonsense_Mutation_p.E794*|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	746					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.E746*(1)|p.E794*(1)		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)		CGTGCTTATTGAAAGCGGAGG	0.458																																						uc002gnn.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2236-2238)GAA>TAA		myocardin isoform 2							131.0	111.0	118.0					17																	12664015		2203	4300	6503	SO:0001587	stop_gained	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.chr17:12664015G>T	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.2236G>T	17.37:g.12664015G>T	ENSP00000341835:p.Glu746*					MYOCD_uc002gno.2_Nonsense_Mutation_p.E794*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.E470*	p.E746*	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	12	2535	+			746					Q5UBU5|Q8N7Q1	Nonsense_Mutation	SNP	ENST00000343344.4	37	c.2236G>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	38	7.256838	0.98168	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	.	.	.	5.16	5.16	0.70880	.	0.051673	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-14.1966	17.7842	0.88532	0.0:0.0:1.0:0.0	.	.	.	.	X	470;794;746;456	.	ENSP00000341835:E746X	E	+	1	0	MYOCD	12604740	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.164000	0.94755	2.578000	0.87016	0.561000	0.74099	GAA		PASS	0.458	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		5	7	5	7	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26084309	26084309	+	Missense_Mutation	SNP	G	G	A	rs200748226		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:26084309G>A	ENST00000313735.6	-	27	3658	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1142					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.A1142V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GGGCTGCACCGCCACCCTGTC	0.532											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gzu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(3424-3426)GCG>GTG		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	71.0	62.0	65.0		3425	-2.8	0.0	17		65	0,8600		0,0,4300	no	missense	NOS2	NM_000625.4	64	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	1142/1154	26084309	3,13003	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26084309G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3425C>T	17.37:g.26084309G>A	ENSP00000327251:p.Ala1142Val		OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97		p.A1142V	NM_000625	NP_000616	P35228	NOS2_HUMAN			27	3689	-			1142					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.3425C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	1.169	-0.641411	0.03531	6.81E-4	0.0	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.01685	4.69	4.68	-2.78	0.05859	.	1.065590	0.07393	N	0.889517	T	0.01287	0.0042	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.48969	-0.8987	10	0.40728	T	0.16	.	0.8444	0.01157	0.3023:0.1155:0.3468:0.2354	.	1142	P35228	NOS2_HUMAN	V	1142;1103	ENSP00000327251:A1142V	ENSP00000327251:A1142V	A	-	2	0	NOS2	23108436	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.240000	0.32731	-0.559000	0.06110	-0.253000	0.11424	GCG		PASS	0.532	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		13	31	13	31	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27075299	27075299	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:27075299C>T	ENST00000262395.5	+	5	611	c.482C>T	c.(481-483)cCc>cTc	p.P161L	TRAF4_ENST00000444415.3_Missense_Mutation_p.P161L|TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	161					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)	p.P161L(1)		endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGTATGTGCCCCCAGGAGAGT	0.602																																						uc002hcs.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(481-483)CCC>CTC		TNF receptor-associated factor 4							54.0	51.0	52.0					17																	27075299		2203	4300	6503	SO:0001583	missense	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27075299C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.482C>T	17.37:g.27075299C>T	ENSP00000262395:p.Pro161Leu					TRAF4_uc002hcq.1_Intron	p.P161L	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		5	590	+	Lung NSC(42;0.01)		161			TRAF-type 2.		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	ENST00000262395.5	37	c.482C>T	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408335	0.62399	.	.	ENSG00000076604	ENST00000262395;ENST00000422344;ENST00000444415	T;T;T	0.28666	1.6;1.62;1.6	5.67	4.7	0.59300	Zinc finger, TRAF-type (1);	0.053645	0.85682	N	0.000000	T	0.46521	0.1397	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.44787	-0.9305	10	0.72032	D	0.01	.	12.1519	0.54053	0.0:0.917:0.0:0.083	.	161	Q9BUZ4	TRAF4_HUMAN	L	161;168;161	ENSP00000262395:P161L;ENSP00000415789:P168L;ENSP00000438154:P161L	ENSP00000262395:P161L	P	+	2	0	TRAF4	24099426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.471000	0.66762	1.386000	0.46466	0.561000	0.74099	CCC		PASS	0.602	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		11	26	11	26	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33498366	33498366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:33498366C>A	ENST00000268876.5	+	13	1818	c.1721C>A	c.(1720-1722)tCg>tAg	p.S574*	UNC45B_ENST00000591048.1_Nonsense_Mutation_p.S493*|UNC45B_ENST00000378449.1_Nonsense_Mutation_p.S493*|UNC45B_ENST00000433649.1_Nonsense_Mutation_p.S572*|UNC45B_ENST00000394570.2_Nonsense_Mutation_p.S572*	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	574					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S574*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCCTGTACTCGGTGGCCACC	0.557											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hja.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1720-1722)TCG>TAG		cardiomyopathy associated 4 isoform 1							132.0	107.0	116.0					17																	33498366		2203	4300	6503	SO:0001587	stop_gained	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33498366C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1721C>A	17.37:g.33498366C>A	ENSP00000268876:p.Ser574*		OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840	UNC45B_uc002hjb.2_Nonsense_Mutation_p.S572*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.S572*|UNC45B_uc010cto.2_Nonsense_Mutation_p.S493*	p.S574*	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			13	1818	+		Ovarian(249;0.17)	574					Q495Q8|Q495Q9	Nonsense_Mutation	SNP	ENST00000268876.5	37	c.1721C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	40	8.131383	0.98670	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	.	.	.	5.87	5.87	0.94306	.	0.170331	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-9.072	19.5705	0.95413	0.0:1.0:0.0:0.0	.	.	.	.	X	574;574;572;493	.	ENSP00000268876:S574X	S	+	2	0	UNC45B	30522479	1.000000	0.71417	0.158000	0.22627	0.994000	0.84299	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCG		PASS	0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		4	51	4	51	---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33501267	33501267	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:33501267A>T	ENST00000268876.5	+	14	1940	c.1843A>T	c.(1843-1845)Aag>Tag	p.K615*	UNC45B_ENST00000591048.1_Nonsense_Mutation_p.K534*|UNC45B_ENST00000378449.1_Nonsense_Mutation_p.K534*|UNC45B_ENST00000433649.1_Nonsense_Mutation_p.K613*|UNC45B_ENST00000394570.2_Nonsense_Mutation_p.K613*	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	615					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K615*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAGGACAAGAAGGACTTTAT	0.522																																						uc002hja.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|breast(1)	6						c.(1843-1845)AAG>TAG		cardiomyopathy associated 4 isoform 1							134.0	131.0	132.0					17																	33501267		2203	4300	6503	SO:0001587	stop_gained	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33501267A>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1843A>T	17.37:g.33501267A>T	ENSP00000268876:p.Lys615*					UNC45B_uc002hjb.2_Nonsense_Mutation_p.K613*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.K613*|UNC45B_uc010cto.2_Nonsense_Mutation_p.K534*	p.K615*	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			14	1940	+		Ovarian(249;0.17)	615					Q495Q8|Q495Q9	Nonsense_Mutation	SNP	ENST00000268876.5	37	c.1843A>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	40	7.984467	0.98596	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-34.0558	14.0882	0.64973	1.0:0.0:0.0:0.0	.	.	.	.	X	615;615;613;534	.	ENSP00000268876:K615X	K	+	1	0	UNC45B	30525380	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.058000	0.76676	2.106000	0.64143	0.482000	0.46254	AAG		PASS	0.522	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		25	86	25	86	---	---	---	---
CWC25	54883	broad.mit.edu	37	17	36959000	36959000	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:36959000C>A	ENST00000225428.5	-	9	1413	c.1116G>T	c.(1114-1116)cgG>cgT	p.R372R	CWC25_ENST00000536127.1_Silent_p.R309R|PIP4K2B_ENST00000269554.3_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	372								p.R372R(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GCCTCTGCTCCCGTTCCTCAT	0.522																																						uc002hqu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)CGG>CGT		coiled-coil domain containing 49							168.0	173.0	171.0					17																	36959000		1997	4176	6173	SO:0001819	synonymous_variant	54883							g.chr17:36959000C>A	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1116G>T	17.37:g.36959000C>A						CWC25_uc010wdv.1_Silent_p.R309R|CWC25_uc010wdw.1_RNA|PIP4K2B_uc002hqs.2_5'Flank|PIP4K2B_uc010wdt.1_5'Flank	p.R372R	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN			9	1269	-			372			Potential.		A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.1116G>T	CCDS45663.1																																																																																				PASS	0.522	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		24	74	24	74	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421393	38421393	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:38421393G>T	ENST00000323571.4	+	5	1205	c.965G>T	c.(964-966)gGa>gTa	p.G322V	WIPF2_ENST00000585043.1_Missense_Mutation_p.G322V|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.G322V	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	322					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)		p.G322V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCCAGTCGGGGAGCAGGTAAG	0.542										HNSCC(43;0.11)																												uc002hug.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(964-966)GGA>GTA		WIRE protein							38.0	42.0	41.0					17																	38421393		2193	4288	6481	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421393G>T	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.965G>T	17.37:g.38421393G>T	ENSP00000320924:p.Gly322Val	HNSCC(43;0.11)				WIPF2_uc002huh.1_Missense_Mutation_p.G172V|WIPF2_uc010cww.1_Missense_Mutation_p.G172V|WIPF2_uc002hui.1_Missense_Mutation_p.G322V|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.G322V	p.G322V	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN			5	1205	+			322					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.965G>T	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665505	0.67700	.	.	ENSG00000171475	ENST00000323571	T	0.31247	1.5	5.82	5.82	0.92795	.	0.173152	0.52532	D	0.000068	T	0.47002	0.1422	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	P	0.60949	0.881	T	0.14896	-1.0456	10	0.41790	T	0.15	-8.614	19.7529	0.96275	0.0:0.0:1.0:0.0	.	322	Q8TF74	WIPF2_HUMAN	V	322	ENSP00000320924:G322V	ENSP00000320924:G322V	G	+	2	0	WIPF2	35674919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.590000	0.67530	2.767000	0.95098	0.555000	0.69702	GGA		PASS	0.542	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		9	37	9	37	---	---	---	---
KRT33B	3884	broad.mit.edu	37	17	39521219	39521219	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:39521219G>A	ENST00000251646.3	-	6	958	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	303	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S303S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGCGGGCCTCGCTCTCTGTCA	0.582																																						uc002hwl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(907-909)AGC>AGT		type I hair keratin 3B							47.0	53.0	51.0					17																	39521219		2192	4300	6492	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521219G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.909C>T	17.37:g.39521219G>A							p.S303S	NM_002279	NP_002270	Q14525	KT33B_HUMAN			6	954	-		Breast(137;0.000496)	303			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.909C>T	CCDS11389.1																																																																																				PASS	0.582	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		12	38	12	38	---	---	---	---
PTRF	284119	broad.mit.edu	37	17	40574766	40574766	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:40574766A>T	ENST00000357037.5	-	1	769	c.350T>A	c.(349-351)gTc>gAc	p.V117D		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.V117D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GTTGACGCTGACCTTGCGCAC	0.667																																						uc002hzo.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(349-351)GTC>GAC		polymerase I and transcript release factor							44.0	30.0	35.0					17																	40574766		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40574766A>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.350T>A	17.37:g.40574766A>T	ENSP00000349541:p.Val117Asp					PTRF_uc010wgi.1_Missense_Mutation_p.V99D	p.V117D	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	1	509	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	117						Missense_Mutation	SNP	ENST00000357037.5	37	c.350T>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	A	34	5.396440	0.96009	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.70869	-0.52	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	D	0.86379	0.1728	10	0.87932	D	0	-34.4548	14.9286	0.70898	1.0:0.0:0.0:0.0	.	99;117	B4DNU9;Q6NZI2	.;PTRF_HUMAN	D	117;72	ENSP00000349541:V117D	ENSP00000349541:V117D	V	-	2	0	PTRF	37828292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.209000	0.95087	1.921000	0.55644	0.459000	0.35465	GTC		PASS	0.667	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		3	5	3	5	---	---	---	---
IGF2BP1	10642	broad.mit.edu	37	17	47120878	47120878	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:47120878G>T	ENST00000290341.3	+	10	1500	c.1166G>T	c.(1165-1167)aGc>aTc	p.S389I	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.S250I	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	389	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.S389I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCCCAGCAGCGTTACTGGG	0.577																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1165-1167)AGC>ATC		insulin-like growth factor 2 mRNA binding							52.0	49.0	50.0					17																	47120878		2203	4300	6503	SO:0001583	missense	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.chr17:47120878G>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.1166G>T	17.37:g.47120878G>T	ENSP00000290341:p.Ser389Ile					IGF2BP1_uc010dbj.2_Missense_Mutation_p.S250I	p.S389I	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			10	1500	+			389			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1166G>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696185	0.48202	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.16;1.4	5.28	5.28	0.74379	.	0.162035	0.56097	D	0.000033	T	0.47284	0.1437	L	0.38175	1.15	0.47094	D	0.999315	P;B	0.45531	0.86;0.016	P;B	0.58391	0.838;0.011	T	0.09443	-1.0674	10	0.22109	T	0.4	-28.1169	18.6936	0.91592	0.0:0.0:1.0:0.0	.	250;389	C9JT33;Q9NZI8	.;IF2B1_HUMAN	I	389;250	ENSP00000290341:S389I;ENSP00000389135:S250I	ENSP00000290341:S389I	S	+	2	0	IGF2BP1	44475877	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	3.240000	0.51368	2.739000	0.93911	0.563000	0.77884	AGC		PASS	0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		10	35	10	35	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48216853	48216853	+	Nonsense_Mutation	SNP	C	C	A	rs540772325		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:48216853C>A	ENST00000316878.6	-	8	1956	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	652	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.E651*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGTGCATCCTCGTTCTCCGCT	0.612																																						uc002iqh.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1960-1962)GAG>TAG		protein phosphatase 1, regulatory subunit 9B							157.0	171.0	166.0					17																	48216853		2173	4261	6434	SO:0001587	stop_gained	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216853C>A	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1954G>T	17.37:g.48216853C>A	ENSP00000475417:p.Glu652*						p.E654*	NM_032595	NP_115984	Q96SB3	NEB2_HUMAN			8	1963	-			652			Interacts with TGN38 (By similarity).		Q8TCR9	Nonsense_Mutation	SNP	ENST00000316878.6	37	c.1960G>T																																																																																					PASS	0.612	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		5	157	5	157	---	---	---	---
TMEM100	55273	broad.mit.edu	37	17	53798268	53798268	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:53798268C>A	ENST00000575734.1	-	4	972	c.164G>T	c.(163-165)cGc>cTc	p.R55L	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.R55L	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	55					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R55L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GATGATGCAGCGGTAGCAGGA	0.537																																						uc002iuj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)CGC>CTC		transmembrane protein 100							124.0	119.0	120.0					17																	53798268		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798268C>A	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.164G>T	17.37:g.53798268C>A	ENSP00000465638:p.Arg55Leu					TMEM100_uc002iuk.3_Missense_Mutation_p.R55L	p.R55L	NM_018286	NP_060756	Q9NV29	TM100_HUMAN			2	475	-			55					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.164G>T	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892649	0.91889	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81127	-0.1074	9	0.72032	D	0.01	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	55	Q9NV29	TM100_HUMAN	L	55	.	ENSP00000299377:R55L	R	-	2	0	TMEM100	51153267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.733000	0.93635	0.655000	0.94253	CGC		PASS	0.537	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		35	66	35	66	---	---	---	---
ANKFN1	162282	broad.mit.edu	37	17	54520245	54520245	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:54520245A>T	ENST00000318698.2	+	9	1094	c.1059A>T	c.(1057-1059)aaA>aaT	p.K353N	ANKFN1_ENST00000566473.2_Missense_Mutation_p.K353N	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	353	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.K353N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAATATGAAAGGATGGGGAC	0.458																																						uc002iun.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1057-1059)AAA>AAT		ankyrin-repeat and fibronectin type III domain							126.0	117.0	120.0					17																	54520245		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54520245A>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1059A>T	17.37:g.54520245A>T	ENSP00000321627:p.Lys353Asn						p.K353N	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			9	1094	+			353			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.1059A>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057550	0.76074	.	.	ENSG00000153930	ENST00000318698	T	0.35605	1.3	5.51	3.3	0.37823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.086995	0.85682	D	0.000000	T	0.45736	0.1357	L	0.48174	1.505	0.49582	D	0.999803	D	0.60575	0.988	P	0.60473	0.875	T	0.39683	-0.9602	10	0.66056	D	0.02	-17.5377	9.454	0.38743	0.8563:0.0:0.1437:0.0	.	353	Q8N957	ANKF1_HUMAN	N	353	ENSP00000321627:K353N	ENSP00000321627:K353N	K	+	3	2	ANKFN1	51875244	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.533000	0.45667	0.908000	0.36671	0.460000	0.39030	AAA		PASS	0.458	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		13	54	13	54	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65162609	65162609	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:65162609G>T	ENST00000358691.5	-	15	2046	c.1880C>A	c.(1879-1881)cCa>cAa	p.P627Q	HELZ_ENST00000580168.1_Missense_Mutation_p.P627Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	627						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P627Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGACTCCATGGTATGGTGGG	0.358																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1879-1881)CCA>CAA		helicase with zinc finger domain							143.0	132.0	135.0					17																	65162609		1856	4114	5970	SO:0001583	missense	9931							g.chr17:65162609G>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1880C>A	17.37:g.65162609G>T	ENSP00000351524:p.Pro627Gln					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P627Q	p.P627Q	NM_014877	NP_055692					15	2067	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1880C>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364026	0.41902	.	.	ENSG00000198265	ENST00000358691	D	0.84298	-1.83	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89563	0.6751	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.77557	0.99;0.658	D	0.90092	0.4178	10	0.66056	D	0.02	-14.8357	19.6559	0.95842	0.0:0.0:1.0:0.0	.	627;627	B7ZLW2;P42694	.;HELZ_HUMAN	Q	627	ENSP00000351524:P627Q	ENSP00000351524:P627Q	P	-	2	0	HELZ	62593071	1.000000	0.71417	0.989000	0.46669	0.776000	0.43924	9.307000	0.96226	2.657000	0.90304	0.491000	0.48974	CCA		PASS	0.358	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		5	84	5	84	---	---	---	---
PITPNC1	26207	broad.mit.edu	37	17	65688927	65688927	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:65688927G>T	ENST00000581322.1	+	9	922	c.922G>T	c.(922-924)Gac>Tac	p.D308Y	PITPNC1_ENST00000335257.6_Missense_Mutation_p.D308Y|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	308					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.D308Y(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CACACTTCCAGACCCTGAGAA	0.502																																						uc002jgc.2																			1	Substitution - Missense(1)	p.D308D(1)	lung(1)	skin(1)	1						c.(922-924)GAC>TAC		phosphatidylinositol transfer protein,							92.0	93.0	93.0					17																	65688927		1837	4081	5918	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688927G>T	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.922G>T	17.37:g.65688927G>T	ENSP00000464006:p.Asp308Tyr					PITPNC1_uc002jgb.2_3'UTR	p.D308Y	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1269	+	all_cancers(12;3.03e-10)		308					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.922G>T	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608509	0.87258	.	.	ENSG00000154217	ENST00000335257	T	0.54479	0.57	5.87	5.87	0.94306	.	0.129918	0.64402	D	0.000002	T	0.56352	0.1979	L	0.27053	0.805	0.80722	D	1	D	0.55385	0.971	P	0.52710	0.707	T	0.58532	-0.7620	10	0.87932	D	0	2.0E-4	20.5827	0.99408	0.0:0.0:1.0:0.0	.	308	Q9UKF7	PITC1_HUMAN	Y	308	ENSP00000335618:D308Y	ENSP00000335618:D308Y	D	+	1	0	PITPNC1	63119389	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.282000	0.95840	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.502	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		35	122	35	122	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65955663	65955663	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:65955663C>A	ENST00000321892.4	+	26	8372	c.8311C>A	c.(8311-8313)Ctg>Atg	p.L2771M	BPTF_ENST00000335221.5_Missense_Mutation_p.L2628M|BPTF_ENST00000424123.3_Missense_Mutation_p.L2489M|BPTF_ENST00000306378.6_Missense_Mutation_p.L2645M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2771					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L2645M(1)|p.L2628M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGGAAGAGCTGAAGAGAGA	0.458																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(7933-7935)CTG>ATG		bromodomain PHD finger transcription factor							55.0	59.0	58.0					17																	65955663		2202	4298	6500	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65955663C>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8311C>A	17.37:g.65955663C>A	ENSP00000315454:p.Leu2771Met					BPTF_uc002jge.2_Missense_Mutation_p.L2628M|BPTF_uc002jgg.2_Missense_Mutation_p.L302M|BPTF_uc002jgh.2_Missense_Mutation_p.L104M	p.L2645M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		24	7994	+	all_cancers(12;6e-11)		2771					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.7933C>A		.	.	.	.	.	.	.	.	.	.	C	15.15	2.747752	0.49257	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	T;T;T	0.72615	1.96;-0.67;1.96	5.12	5.12	0.69794	.	.	.	.	.	T	0.80199	0.4579	L	0.55834	1.745	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.81835	-0.0750	9	0.87932	D	0	-5.4651	12.948	0.58384	0.0:0.9223:0.0:0.0777	.	449;2645;2628	B4DJV8;Q12830-2;Q12830-4	.;.;.	M	2645;2628;2771;299	ENSP00000307208:L2645M;ENSP00000334351:L2628M;ENSP00000315454:L2771M	ENSP00000307208:L2645M	L	+	1	2	BPTF	63386125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.781000	0.55394	2.376000	0.81061	0.491000	0.48974	CTG		PASS	0.458	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		32	89	32	89	---	---	---	---
C17orf80	55028	broad.mit.edu	37	17	71232591	71232591	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:71232591G>A	ENST00000535032.2	+	2	1083	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	C17orf80_ENST00000577615.1_Missense_Mutation_p.E324K|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.E324K|C17orf80_ENST00000359042.2_Missense_Mutation_p.E324K|C17orf80_ENST00000426147.2_Missense_Mutation_p.E324K|C17orf80_ENST00000268942.8_Missense_Mutation_p.E324K			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	324						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E324K(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAAGCAGGAACGGACTGT	0.463																																						uc002jjm.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(970-972)GAA>AAA		lung cancer-related protein 8 isoform a							87.0	73.0	77.0					17																	71232591		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232591G>A	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.970G>A	17.37:g.71232591G>A	ENSP00000440551:p.Glu324Lys					C17orf80_uc010wqu.1_Missense_Mutation_p.E324K|C17orf80_uc010dfj.2_Missense_Mutation_p.E324K|C17orf80_uc002jjk.1_Missense_Mutation_p.E324K|C17orf80_uc002jjl.3_Missense_Mutation_p.E324K	p.E324K	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1164	+			324			Extracellular (Potential).		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.970G>A	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.550308	0.27739	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.12361	2.69;2.88;2.69;2.89;2.88	5.17	-0.912	0.10504	.	1.412130	0.04291	N	0.345453	T	0.10981	0.0268	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.15473	0.002;0.002;0.013;0.013	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.36529	-0.9744	10	0.42905	T	0.14	1.6711	5.3389	0.15973	0.3721:0.1461:0.4818:0.0	.	324;324;324;324	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	K	324	ENSP00000255557:E324K;ENSP00000351937:E324K;ENSP00000268942:E324K;ENSP00000396970:E324K;ENSP00000440551:E324K	ENSP00000255557:E324K	E	+	1	0	C17orf80	68744186	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-0.013000	0.14199	-0.979000	0.02580	GAA		PASS	0.463	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		4	35	4	35	---	---	---	---
BTBD17	388419	broad.mit.edu	37	17	72352885	72352885	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:72352885G>T	ENST00000375366.3	-	3	1474	c.1348C>A	c.(1348-1350)Cgc>Agc	p.R450S		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	450					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R450S(1)		endometrium(1)|kidney(1)|lung(4)	6						TCGGAGTTGCGCCGCTGCAGG	0.677																																						uc002jkn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1348-1350)CGC>AGC		BTB (POZ) domain containing 17 precursor							63.0	59.0	60.0					17																	72352885		2203	4300	6503	SO:0001583	missense	388419					extracellular region		g.chr17:72352885G>T		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1348C>A	17.37:g.72352885G>T	ENSP00000364515:p.Arg450Ser						p.R450S	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			3	1348	-			450						Missense_Mutation	SNP	ENST00000375366.3	37	c.1348C>A	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493422	0.84962	.	.	ENSG00000204347	ENST00000375366	D	0.83992	-1.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	L	0.36672	1.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.84048	0.0368	10	0.31617	T	0.26	-25.4859	13.6634	0.62380	0.0:0.0:0.8453:0.1547	.	450	A6NE02	BTBDH_HUMAN	S	450	ENSP00000364515:R450S	ENSP00000364515:R450S	R	-	1	0	BTBD17	69864480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.431000	0.73395	2.416000	0.81992	0.556000	0.70494	CGC		PASS	0.677	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		4	10	4	10	---	---	---	---
H3F3B	3021	broad.mit.edu	37	17	73780809	73780809	+	Intron	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:73780809C>G	ENST00000586607.1	-	1	111				MIR4738_ENST00000579134.1_RNA|UNK_ENST00000589666.1_5'Flank|UNK_ENST00000293218.3_Splice_Site_p.P26A			P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.P26A(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAAATTCCAGCCGGACATAGA	0.642																																						uc002jpm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)CCG>GCG		zinc finger CCCH-type domain containing 5							29.0	36.0	34.0					17																	73780809		1904	4126	6030	SO:0001627	intron_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780809C>G	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000586607.1:c.9+647G>C	17.37:g.73780809C>G						UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	p.P26A	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	76	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000586607.1	37	c.76C>G	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375726	0.11409	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.99	-1.8	0.07907	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	.	5.8804	0.18852	0.1702:0.5474:0.1663:0.1161	.	.	.	.	A	26	.	.	P	+	1	0	UNK	71292404	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.539000	0.06113	-0.122000	0.11766	-1.798000	0.00622	CCG		PASS	0.642	H3F3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448507.1	NM_005324		10	13	10	13	---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73945424	73945424	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:73945424C>A	ENST00000301608.4	-	12	1662	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	ACOX1_ENST00000537812.1_Silent_p.V496V|ACOX1_ENST00000293217.5_Silent_p.V534V	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	534				VV -> GL (in Ref. 1; AAA19113/AAA19114 and 2; AAA18595). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.V534V(4)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GCTTAACTACCACATAGTGGC	0.358																																						uc002jqf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(1600-1602)GTG>GTT		acyl-Coenzyme A oxidase 1 isoform b							96.0	100.0	99.0					17																	73945424		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73945424C>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1602G>T	17.37:g.73945424C>A						ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V	p.V534V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			12	1892	-			534	VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595).				A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.1602G>T	CCDS11735.1																																																																																				PASS	0.358	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			5	105	5	105	---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73969781	73969781	+	Nonsense_Mutation	SNP	G	G	A	rs3198438		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:73969781G>A	ENST00000301608.4	-	3	415	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000293217.5_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	119				Q -> E (in Ref. 4; AAB30019). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.Q119*(1)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCTCTTTCTGAGCAGTGGTG	0.483																																						uc002jqf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(355-357)CAG>TAG		acyl-Coenzyme A oxidase 1 isoform b							103.0	99.0	100.0					17																	73969781		2203	4300	6503	SO:0001587	stop_gained	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73969781G>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.355C>T	17.37:g.73969781G>A	ENSP00000301608:p.Gln119*					ACOX1_uc010wsq.1_Intron|ACOX1_uc002jqe.2_Intron|ACOX1_uc010wsr.1_5'UTR	p.Q119*	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			3	645	-			119	Q -> E (in Ref. 4; AAB30019).				A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Nonsense_Mutation	SNP	ENST00000301608.4	37	c.355C>T	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308372	0.95629	.	.	ENSG00000161533	ENST00000301608	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.9984	18.9926	0.92800	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000301608:Q119X	Q	-	1	0	ACOX1	71481376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.331000	0.96430	2.784000	0.95788	0.643000	0.83706	CAG		PASS	0.483	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			22	48	22	48	---	---	---	---
HGS	9146	broad.mit.edu	37	17	79667556	79667556	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:79667556C>T	ENST00000329138.4	+	19	2077	c.1942C>T	c.(1942-1944)Ccc>Tcc	p.P648S	SLC25A10_ENST00000541223.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000571730.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	648	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P648S(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCAGGCGGCCCCCCAGGCCCA	0.652																																						uc002kbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1942-1944)CCC>TCC		hepatocyte growth factor-regulated tyrosine							45.0	52.0	50.0					17																	79667556		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667556C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1942C>T	17.37:g.79667556C>T	ENSP00000331201:p.Pro648Ser					MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	p.P648S	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		19	2019	+	all_neural(118;0.0878)|all_lung(278;0.23)		648			Interaction with NF2.|Gln-rich.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1942C>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	3.141	-0.176383	0.06380	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.42900	0.96	4.65	2.64	0.31445	.	0.222920	0.25464	U	0.030498	T	0.23171	0.0560	N	0.14661	0.345	0.32789	N	0.501444	B	0.06786	0.001	B	0.04013	0.001	T	0.17048	-1.0382	10	0.30078	T	0.28	-14.7008	8.753	0.34629	0.0:0.763:0.1523:0.0847	.	648	O14964	HGS_HUMAN	S	648;562	ENSP00000331201:P648S	ENSP00000331201:P648S	P	+	1	0	HGS	77277961	0.192000	0.23301	0.359000	0.25824	0.004000	0.04260	1.893000	0.39758	0.581000	0.29539	-0.218000	0.12543	CCC		PASS	0.652	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		7	20	7	20	---	---	---	---
COLEC12	81035	broad.mit.edu	37	18	335079	335079	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:335079G>A	ENST00000400256.3	-	6	1686	c.1479C>T	c.(1477-1479)ccC>ccT	p.P493P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	493	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.P493P(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACGCTCTCCGGGGGGACCAG	0.672																																						uc002kkm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1477-1479)CCC>CCT		collectin sub-family member 12							29.0	32.0	31.0					18																	335079		2188	4272	6460	SO:0001819	synonymous_variant	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335079G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1479C>T	18.37:g.335079G>A							p.P493P	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			6	1694	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	493			Collagen-like 2.|Extracellular (Potential).		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Silent	SNP	ENST00000400256.3	37	c.1479C>T	CCDS32782.1																																																																																				PASS	0.672	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			4	17	4	17	---	---	---	---
CHST9	83539	broad.mit.edu	37	18	24496619	24496619	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:24496619T>A	ENST00000284224.8	-	6	1213	c.936A>T	c.(934-936)aaA>aaT	p.K312N	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K312N|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	312					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.K312N(1)|p.K227N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTGGTCGATATTTCTTGATAA	0.398																																						uc002kwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(934-936)AAA>AAT		GalNAc-4-sulfotransferase 2							155.0	147.0	149.0					18																	24496619		1874	4103	5977	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496619T>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.936A>T	18.37:g.24496619T>A	ENSP00000284224:p.Lys312Asn					C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.K227N|CHST9_uc002kwe.2_Missense_Mutation_p.K312N	p.K312N	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			5	1134	-	all_lung(6;0.0145)|Ovarian(20;0.124)		312			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.936A>T	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576755	0.45902	.	.	ENSG00000154080	ENST00000284224	T	0.75260	-0.92	6.17	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	L	0.55017	1.72	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.78682	-0.2109	10	0.72032	D	0.01	-28.7962	7.3214	0.26529	0.0:0.3518:0.0:0.6482	.	312	Q7L1S5	CHST9_HUMAN	N	312	ENSP00000284224:K312N	ENSP00000284224:K312N	K	-	3	2	CHST9	22750617	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	0.729000	0.26028	0.566000	0.29273	0.533000	0.62120	AAA		PASS	0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		31	72	31	72	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32398154	32398154	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:32398154T>A	ENST00000399113.3	+	7	736	c.736T>A	c.(736-738)Tgc>Agc	p.C246S	AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000315456.6_Missense_Mutation_p.C246S|DTNA_ENST00000597599.1_Missense_Mutation_p.C246S|DTNA_ENST00000269190.7_Missense_Mutation_p.C246S|DTNA_ENST00000554864.3_Missense_Mutation_p.C246S|DTNA_ENST00000283365.9_Missense_Mutation_p.C246S|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000444659.1_Missense_Mutation_p.C246S|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000399121.5_Missense_Mutation_p.C246S|DTNA_ENST00000595022.1_Missense_Mutation_p.C246S|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000598142.1_Missense_Mutation_p.C246S|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000269191.6_Missense_Mutation_p.C246S|DTNA_ENST00000348997.5_Missense_Mutation_p.C246S|DTNA_ENST00000598334.1_Missense_Mutation_p.C246S|DTNA_ENST00000598774.1_Missense_Mutation_p.C246S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	246	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.C246S(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GTGTTCCTACTGCCACAGTGA	0.468																																						uc010dmn.1																			5	Substitution - Missense(5)		lung(5)		0						c.(736-738)TGC>AGC		dystrobrevin alpha isoform 1							164.0	140.0	148.0					18																	32398154		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32398154T>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.736T>A	18.37:g.32398154T>A	ENSP00000382064:p.Cys246Ser					DTNA_uc002kxu.2_Missense_Mutation_p.C246S|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.C246S|DTNA_uc002kxw.2_Missense_Mutation_p.C246S|DTNA_uc002kxx.2_Missense_Mutation_p.C246S|DTNA_uc010dmj.2_Missense_Mutation_p.C246S|DTNA_uc002kxz.2_Missense_Mutation_p.C246S|DTNA_uc002kxy.2_Missense_Mutation_p.C246S|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.C246S|DTNA_uc002kyb.3_Missense_Mutation_p.C246S|DTNA_uc010dmm.2_Missense_Mutation_p.C246S|DTNA_uc010xby.1_5'UTR|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	p.C246S	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			7	737	+			246			Interaction with MAGEE1 (By similarity).|ZZ-type.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.736T>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032168	0.93575	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.97852	4.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.987;0.995;0.998;0.992;0.999;0.987;0.985;0.999	D	0.96766	0.9565	10	0.87932	D	0	-13.8436	16.2718	0.82624	0.0:0.0:0.0:1.0	.	246;246;246;246;246;246;257;246;246;246;246	Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	S	246	ENSP00000283365:C246S;ENSP00000322519:C246S;ENSP00000269190:C246S;ENSP00000336682:C246S;ENSP00000382072:C246S;ENSP00000405819:C246S;ENSP00000269191:C246S;ENSP00000382064:C246S	ENSP00000269190:C246S	C	+	1	0	DTNA	30652152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.239000	0.73571	0.528000	0.53228	TGC		PASS	0.468	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		21	61	21	61	---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33726217	33726217	+	Missense_Mutation	SNP	G	G	T	rs374293382		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:33726217G>T	ENST00000358232.6	+	11	1061	c.998G>T	c.(997-999)cGa>cTa	p.R333L	ELP2_ENST00000542824.1_Intron|ELP2_ENST00000442325.2_Missense_Mutation_p.R398L|ELP2_ENST00000423854.2_Missense_Mutation_p.R263L|ELP2_ENST00000350494.6_Intron|ELP2_ENST00000351393.6_Missense_Mutation_p.R307L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	333					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.R333L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GTACAGGTTCGAGTAGGTGAA	0.398																																						uc002kzk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(997-999)CGA>CTA		elongator protein 2							234.0	227.0	229.0					18																	33726217		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33726217G>T	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.998G>T	18.37:g.33726217G>T	ENSP00000350967:p.Arg333Leu					ELP2_uc010xcg.1_Missense_Mutation_p.R398L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R307L|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.R263L	p.R333L	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			11	1008	+			333					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.998G>T	CCDS11918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.145275|5.145275	0.94603|0.94603	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000535093|ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854	.|T;T;T;T	.|0.64991	.|-0.13;0.04;1.08;0.48	5.34|5.34	5.34|5.34	0.76211|0.76211	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	.|0.058114	.|0.64402	.|D	.|0.000002	.|T	.|0.81626	.|0.4862	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.99;0.996;0.994	.|T	.|0.83070	.|-0.0143	.|10	.|0.45353	.|T	.|0.12	-9.3436|-9.3436	16.525|16.525	0.84328|0.84328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|398;263;307;333	.|E7EP23;E9PCX0;Q6IA86-3;Q6IA86	.|.;.;.;ELP2_HUMAN	X|L	154|333;307;398;263	.|ENSP00000350967:R333L;ENSP00000257191:R307L;ENSP00000414851:R398L;ENSP00000391202:R263L	.|ENSP00000257191:R307L	E|R	+|+	1|2	0|0	ELP2|ELP2	31980215|31980215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.352000|9.352000	0.97076|0.97076	2.498000|2.498000	0.84270|0.84270	0.313000|0.313000	0.20887|0.20887	GAG|CGA		PASS	0.398	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		5	120	5	120	---	---	---	---
TPGS2	25941	broad.mit.edu	37	18	34380196	34380196	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:34380196C>A	ENST00000334295.4	-	5	888	c.461G>T	c.(460-462)gGg>gTg	p.G154V	TPGS2_ENST00000593035.1_Missense_Mutation_p.G119V|TPGS2_ENST00000590652.1_5'UTR|TPGS2_ENST00000589049.1_Missense_Mutation_p.G154V|TPGS2_ENST00000587129.1_Missense_Mutation_p.G154V|TPGS2_ENST00000383056.3_Missense_Mutation_p.G111V|TPGS2_ENST00000590842.1_Missense_Mutation_p.G154V	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	154						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.G154V(1)									GCAAACTTTCCCACTGCCATT	0.478																																						uc002kzw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)GGG>GTG		tubulin polyglutamylase complex subunit 2							233.0	214.0	221.0					18																	34380196		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34380196C>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 10"""	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.461G>T	18.37:g.34380196C>A	ENSP00000335144:p.Gly154Val					C18orf10_uc002kzv.1_Missense_Mutation_p.G154V|C18orf10_uc010xci.1_Missense_Mutation_p.G119V|C18orf10_uc002kzx.1_Missense_Mutation_p.G111V|C18orf10_uc002kzy.3_Missense_Mutation_p.G154V	p.G154V	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN			5	889	-			154					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.461G>T	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030823	0.93575	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	T;T	0.45276	1.48;0.9	5.9	5.9	0.94986	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.047186	0.85682	D	0.000000	T	0.70307	0.3209	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.72947	-0.4137	10	0.87932	D	0	-15.9467	20.2789	0.98501	0.0:1.0:0.0:0.0	.	119;154;111;154	B4DIX2;Q68CL5-3;Q68CL5-1;Q68CL5	.;.;.;TPGS2_HUMAN	V	154;111	ENSP00000335144:G154V;ENSP00000372530:G111V	ENSP00000335144:G154V	G	-	2	0	C18orf10	32634194	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.146000	0.77373	2.788000	0.95919	0.650000	0.86243	GGG		PASS	0.478	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		7	158	7	158	---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43664494	43664494	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:43664494T>A	ENST00000398752.6	-	11	1677	c.1556A>T	c.(1555-1557)cAc>cTc	p.H519L	ATP5A1_ENST00000590665.1_Missense_Mutation_p.H497L|ATP5A1_ENST00000593152.2_Missense_Mutation_p.H469L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.H519L	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	519					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.H519L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAAGGCTTGGTGCTGGCTGAC	0.373																																						uc002lbr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1555-1557)CAC>CTC		ATP synthase, H+ transporting, mitochondrial F1							63.0	60.0	61.0					18																	43664494		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43664494T>A	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1556A>T	18.37:g.43664494T>A	ENSP00000381736:p.His519Leu					ATP5A1_uc010dnl.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbs.1_Missense_Mutation_p.H469L|ATP5A1_uc002lbt.1_Missense_Mutation_p.H519L	p.H519L	NM_004046	NP_004037	P25705	ATPA_HUMAN			11	1646	-			519					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1556A>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633197	0.47049	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.76186	-1.0;-1.0	5.4	5.4	0.78164	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	L	0.59436	1.845	0.80722	D	1	B	0.28208	0.203	B	0.34093	0.175	T	0.74275	-0.3718	10	0.59425	D	0.04	-11.6632	15.4434	0.75208	0.0:0.0:0.0:1.0	.	519	P25705	ATPA_HUMAN	L	519;519;469	ENSP00000282050:H519L;ENSP00000381736:H519L	ENSP00000282050:H519L	H	-	2	0	ATP5A1	41918492	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	7.997000	0.88414	2.053000	0.61076	0.533000	0.62120	CAC		PASS	0.373	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		6	34	6	34	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70526196	70526196	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:70526196G>T	ENST00000327305.6	-	4	991	c.334C>A	c.(334-336)Cca>Aca	p.P112T	NETO1_ENST00000583169.1_Missense_Mutation_p.P112T|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.P111T|NETO1_ENST00000397929.1_Missense_Mutation_p.P111T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	112	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.P112T(1)|p.P111T(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)		CCAATTATTGGAGAAAAGCCA	0.373																																						uc002lkw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(334-336)CCA>ACA		neuropilin- and tolloid-like protein 1 isoform 3							94.0	94.0	94.0					18																	70526196		2203	4300	6503	SO:0001583	missense	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.chr18:70526196G>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.334C>A	18.37:g.70526196G>T	ENSP00000313088:p.Pro112Thr					NETO1_uc002lkx.1_Missense_Mutation_p.P111T|NETO1_uc002lky.1_Missense_Mutation_p.P112T|NETO1_uc002lkz.2_Missense_Mutation_p.P111T	p.P112T	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	618	-		Esophageal squamous(42;0.129)	112			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.334C>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623942	0.66901	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.35973	1.28;1.28;1.51	5.35	5.35	0.76521	CUB (5);	0.207467	0.33005	N	0.005385	T	0.61763	0.2373	M	0.72353	2.195	0.80722	D	1	D;P;D	0.76494	0.989;0.665;0.999	P;P;D	0.78314	0.801;0.507;0.991	T	0.62905	-0.6755	10	0.59425	D	0.04	0.013	19.438	0.94806	0.0:0.0:1.0:0.0	.	111;111;112	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	T	112;111;111	ENSP00000313088:P112T;ENSP00000299430:P111T;ENSP00000381024:P111T	ENSP00000299430:P111T	P	-	1	0	NETO1	68677176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.745000	0.98856	2.672000	0.90937	0.655000	0.94253	CCA		PASS	0.373	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		5	75	5	75	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	73000059	73000059	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr18:73000059C>A	ENST00000580243.1	+	2	3045	c.2697C>A	c.(2695-2697)atC>atA	p.I899I	TSHZ1_ENST00000322038.5_Silent_p.I854I			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	899					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I854I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCTTCTCATCCTGCAGGCCC	0.602																																						uc002lly.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2560-2562)ATC>ATA		teashirt family zinc finger 1							46.0	44.0	45.0					18																	73000059		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000059C>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2697C>A	18.37:g.73000059C>A							p.I854I	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3125	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	899			Homeobox; atypical.		O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2562C>A																																																																																					PASS	0.602	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		6	17	6	17	---	---	---	---
DIRAS1	148252	broad.mit.edu	37	19	2717615	2717615	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:2717615C>A	ENST00000323469.4	-	2	373	c.190G>T	c.(190-192)Ggc>Tgc	p.G64C	DIRAS1_ENST00000585334.1_Missense_Mutation_p.G64C	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	64					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G64C(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGCTGCCGGTGGTGTCT	0.627																																						uc002lwf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)GGC>TGC		DIRAS family, GTP-binding RAS-like 1							82.0	64.0	70.0					19																	2717615		2203	4299	6502	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717615C>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.190G>T	19.37:g.2717615C>A	ENSP00000325836:p.Gly64Cys						p.G64C	NM_145173	NP_660156	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	348	-			64			GTP (By similarity).			Missense_Mutation	SNP	ENST00000323469.4	37	c.190G>T	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199342	0.79015	.	.	ENSG00000176490	ENST00000323469	D	0.93712	-3.27	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98395	1.0565	10	0.87932	D	0	.	13.7485	0.62890	0.0:1.0:0.0:0.0	.	64	O95057	DIRA1_HUMAN	C	64	ENSP00000325836:G64C	ENSP00000325836:G64C	G	-	1	0	DIRAS1	2668615	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.539000	0.82063	1.813000	0.52934	0.549000	0.68633	GGC		PASS	0.627	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			8	18	8	18	---	---	---	---
ARRDC5	645432	broad.mit.edu	37	19	4902594	4902594	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:4902594G>T	ENST00000381781.2	-	1	285	c.286C>A	c.(286-288)Cca>Aca	p.P96T	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	96								p.P96T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCCACTGGGAATGTCTTT	0.473																																						uc002mbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CCA>ACA		arrestin domain containing 5							115.0	107.0	110.0					19																	4902594		1982	4152	6134	SO:0001583	missense	645432				signal transduction			g.chr19:4902594G>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.286C>A	19.37:g.4902594G>T	ENSP00000371200:p.Pro96Thr						p.P96T	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	286	-			96						Missense_Mutation	SNP	ENST00000381781.2	37	c.286C>A	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159806	0.38119	.	.	ENSG00000205784	ENST00000381781	T	0.12984	2.63	5.37	3.19	0.36642	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.41938	D	0.000788	T	0.25232	0.0613	M	0.66939	2.045	0.31451	N	0.670765	D	0.63046	0.992	P	0.62740	0.906	T	0.02457	-1.1156	10	0.19147	T	0.46	-11.3385	8.0775	0.30724	0.0:0.1732:0.6472:0.1796	.	96	A6NEK1	ARRD5_HUMAN	T	96	ENSP00000371200:P96T	ENSP00000371200:P96T	P	-	1	0	ARRDC5	4853594	0.964000	0.33143	0.987000	0.45799	0.932000	0.56968	1.003000	0.29809	2.796000	0.96246	0.650000	0.86243	CCA		PASS	0.473	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		5	66	5	66	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7152890	7152890	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:7152890T>C	ENST00000302850.5	-	10	2220	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	INSR_ENST00000341500.5_Missense_Mutation_p.D693G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	693	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.D693G(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTTCTGAGAATCTTCAGACTC	0.547																																						uc002mgd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(2077-2079)GAT>GGT		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						111.0	99.0	103.0					19																	7152890		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7152890T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2078A>G	19.37:g.7152890T>C	ENSP00000303830:p.Asp693Gly					INSR_uc002mge.1_Missense_Mutation_p.D693G|INSR_uc002mgf.2_Missense_Mutation_p.D693G	p.D693G	NM_000208	NP_000199	P06213	INSR_HUMAN			10	2187	-			693			Fibronectin type-III 1.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2078A>G	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	t	6.817	0.519943	0.13005	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.72167	-0.63;-0.63	5.55	3.42	0.39159	Fibronectin, type III (3);	0.482009	0.16781	N	0.199787	T	0.55909	0.1950	L	0.36672	1.1	0.31862	N	0.620816	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.53760	-0.8393	10	0.33940	T	0.23	.	5.6144	0.17423	0.0:0.2812:0.0:0.7188	.	684;693;693	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	G	693	ENSP00000303830:D693G;ENSP00000342838:D693G	ENSP00000303830:D693G	D	-	2	0	INSR	7103890	0.999000	0.42202	0.003000	0.11579	0.046000	0.14306	3.621000	0.54210	0.490000	0.27771	0.487000	0.48397	GAT		PASS	0.547	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			21	77	21	77	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071136	9071136	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:9071136T>G	ENST00000397910.4	-	3	16513	c.16310A>C	c.(16309-16311)cAa>cCa	p.Q5437P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5439	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q5437P(2)|p.Q1070P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGAGGATTGTGATTTATG	0.507																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16309-16311)CAA>CCA		mucin 16							281.0	269.0	273.0					19																	9071136		2101	4218	6319	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071136T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16310A>C	19.37:g.9071136T>G	ENSP00000381008:p.Gln5437Pro						p.Q5437P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16514	-			5439			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16310A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.644	0.119704	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	2.33	-2.68	0.06041	.	.	.	.	.	T	0.08626	0.0214	N	0.02539	-0.55	.	.	.	B	0.12630	0.006	B	0.11329	0.006	T	0.24621	-1.0155	8	0.87932	D	0	.	3.5386	0.07803	0.0:0.3025:0.3559:0.3416	.	5437	B5ME49	.	P	5437	ENSP00000381008:Q5437P	ENSP00000381008:Q5437P	Q	-	2	0	MUC16	8932136	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-1.478000	0.02329	-0.766000	0.04639	0.260000	0.18958	CAA		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	214	14	214	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074850	9074850	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:9074850C>T	ENST00000397910.4	-	3	12799	c.12596G>A	c.(12595-12597)gGc>gAc	p.G4199D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4201	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G4199D(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCCCAGGCCAGAGGTCTC	0.498																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12595-12597)GGC>GAC		mucin 16							86.0	82.0	83.0					19																	9074850		1952	4149	6101	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074850C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12596G>A	19.37:g.9074850C>T	ENSP00000381008:p.Gly4199Asp						p.G4199D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12800	-			4201			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12596G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.777	0.327697	0.10956	.	.	ENSG00000181143	ENST00000397910	T	0.39787	1.06	1.31	-2.61	0.06171	.	.	.	.	.	T	0.28234	0.0697	L	0.48642	1.525	.	.	.	B	0.24768	0.111	B	0.15052	0.012	T	0.25222	-1.0138	8	0.87932	D	0	.	2.0196	0.03505	0.2565:0.3495:0.0:0.394	.	4199	B5ME49	.	D	4199	ENSP00000381008:G4199D	ENSP00000381008:G4199D	G	-	2	0	MUC16	8935850	0.000000	0.05858	0.000000	0.03702	0.454000	0.32378	-1.766000	0.01797	-0.905000	0.03871	0.313000	0.20887	GGC		PASS	0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	69	5	69	---	---	---	---
RAD23A	5886	broad.mit.edu	37	19	13059563	13059563	+	Missense_Mutation	SNP	G	G	T	rs4987203	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:13059563G>T	ENST00000586534.1	+	5	597	c.536G>T	c.(535-537)cGg>cTg	p.R179L	RAD23A_ENST00000592268.1_Missense_Mutation_p.R179L|RAD23A_ENST00000541222.1_Missense_Mutation_p.R14L|RAD23A_ENST00000316856.3_Missense_Mutation_p.R179L|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	179	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.		R -> Q (in dbSNP:rs4987203).		nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)	p.R179L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAGCGAGAGCGGGTCGTGGCC	0.622								Nucleotide excision repair (NER)																														uc002mvw.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(535-537)CGG>CTG	NER	UV excision repair protein RAD23 homolog A							105.0	108.0	107.0					19																	13059563		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059563G>T		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.536G>T	19.37:g.13059563G>T	ENSP00000467024:p.Arg179Leu					RAD23A_uc002mvx.1_Missense_Mutation_p.R179L|RAD23A_uc002mvz.1_Missense_Mutation_p.R179L|RAD23A_uc002mwa.1_Missense_Mutation_p.R179L|RAD23A_uc002mvy.1_Missense_Mutation_p.R14L|RAD23A_uc010xmw.1_Missense_Mutation_p.R14L	p.R179L	NM_005053	NP_005044	P54725	RD23A_HUMAN			5	645	+			179			UBA 1.		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.536G>T	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383105	0.42207	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.21031	2.03;2.03	4.61	0.112	0.14623	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.262703	0.30060	N	0.010503	T	0.13072	0.0317	N	0.16368	0.405	0.43678	D	0.996114	B;B;B	0.29481	0.245;0.005;0.118	B;B;B	0.36567	0.228;0.012;0.228	T	0.10636	-1.0621	10	0.48119	T	0.1	-24.9744	7.5338	0.27697	0.4619:0.0:0.5381:0.0	.	179;196;179	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	L	179;14	ENSP00000321365:R179L;ENSP00000438741:R14L	ENSP00000321365:R179L	R	+	2	0	RAD23A	12920563	0.174000	0.23070	0.857000	0.33713	0.992000	0.81027	0.378000	0.20569	0.073000	0.16731	-0.258000	0.10820	CGG		PASS	0.622	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		21	54	21	54	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14288365	14288365	+	Missense_Mutation	SNP	C	C	A	rs202194686		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:14288365C>A	ENST00000340736.6	-	3	559	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	LPHN1_ENST00000361434.3_Missense_Mutation_p.A88S	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	88	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.A88S(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTGAAGGCGTCCGGCAGG	0.567																																						uc010xnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(262-264)GCC>TCC		latrophilin 1 isoform 1 precursor							132.0	112.0	119.0					19																	14288365		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14288365C>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.262G>T	19.37:g.14288365C>A	ENSP00000340688:p.Ala88Ser					LPHN1_uc010xno.1_Missense_Mutation_p.A88S	p.A88S	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			3	558	-			88			SUEL-type lectin.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.262G>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397753	0.62177	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.15718	2.4;2.4	4.84	4.84	0.62591	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.12502	0.225	0.54753	D	0.999984	D;D	0.63880	0.976;0.993	D;D	0.87578	0.99;0.998	T	0.13442	-1.0509	10	0.30078	T	0.28	.	15.4299	0.75084	0.0:1.0:0.0:0.0	.	88;88	O94910-2;O94910	.;LPHN1_HUMAN	S	88	ENSP00000340688:A88S;ENSP00000355328:A88S	ENSP00000340688:A88S	A	-	1	0	LPHN1	14149365	1.000000	0.71417	0.942000	0.38095	0.576000	0.36127	4.675000	0.61619	2.240000	0.73641	0.591000	0.81541	GCC		PASS	0.567	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		27	91	27	91	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15083565	15083565	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:15083565A>T	ENST00000221742.3	-	1	165	c.158T>A	c.(157-159)cTg>cAg	p.L53Q	SLC1A6_ENST00000544886.2_Missense_Mutation_p.L53Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.L53Q|SLC1A6_ENST00000598504.1_Missense_Mutation_p.L53Q|SLC1A6_ENST00000430939.2_Silent_p.P57P	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	53					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L53Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GTTTCGGCGCAGGAAGCGCAG	0.657																																						uc002naa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(157-159)CTG>CAG		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						29.0	29.0	29.0					19																	15083565		2202	4300	6502	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083565A>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.158T>A	19.37:g.15083565A>T	ENSP00000221742:p.Leu53Gln					SLC1A6_uc010dzu.1_Missense_Mutation_p.L53Q|SLC1A6_uc010xod.1_Silent_p.P57P|SLC1A6_uc002nab.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nac.2_Missense_Mutation_p.L53Q|SLC1A6_uc002nad.1_Missense_Mutation_p.L53Q	p.L53Q	NM_005071	NP_005062	P48664	EAA4_HUMAN			1	166	-			53			Cytoplasmic (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.158T>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365441	0.61513	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.60171	0.21;0.92	4.46	4.46	0.54185	.	0.156450	0.43110	D	0.000615	T	0.60676	0.2287	N	0.24115	0.695	0.46774	D	0.999198	D;D;D	0.89917	1.0;0.999;0.977	D;D;D	0.75484	0.986;0.977;0.91	T	0.64643	-0.6359	10	0.87932	D	0	-13.6932	10.0207	0.42041	1.0:0.0:0.0:0.0	.	53;54;53	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	Q	53;53;54	ENSP00000221742:L53Q;ENSP00000446175:L53Q	ENSP00000221742:L53Q	L	-	2	0	SLC1A6	14944565	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.272000	0.78516	1.868000	0.54150	0.260000	0.18958	CTG		PASS	0.657	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	20	4	20	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16611672	16611672	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:16611672G>T	ENST00000221671.3	+	2	225	c.69G>T	c.(67-69)ttG>ttT	p.L23F	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L23F	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	23								p.L23F(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATGTTTCCTTGGAAGATTCAA	0.413																																						uc002neh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)TTG>TTT		hypothetical protein LOC84167							108.0	102.0	104.0					19																	16611672		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611672G>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.69G>T	19.37:g.16611672G>T	ENSP00000221671:p.Leu23Phe					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.L23F|C19orf44_uc002neg.2_Missense_Mutation_p.L23F|C19orf44_uc010eai.1_RNA	p.L23F	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	142	+			23					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.69G>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	1.800	-0.477206	0.04414	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.81	-8.25	0.01025	.	0.743522	0.11524	N	0.555439	T	0.19765	0.0475	L	0.46741	1.465	0.09310	N	1	B;P	0.40107	0.079;0.703	B;B	0.38562	0.136;0.276	T	0.04440	-1.0951	9	0.19147	T	0.46	-3.2774	3.2491	0.06807	0.1907:0.3737:0.3241:0.1114	.	23;23	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	F	23	.	ENSP00000221671:L23F	L	+	3	2	C19orf44	16472672	0.040000	0.19996	0.000000	0.03702	0.001000	0.01503	0.016000	0.13377	-1.814000	0.01224	-0.937000	0.02696	TTG		PASS	0.413	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		5	84	5	84	---	---	---	---
ZNF682	91120	broad.mit.edu	37	19	20117806	20117806	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:20117806T>C	ENST00000397165.2	-	4	665	c.505A>G	c.(505-507)Aca>Gca	p.T169A	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.T137A|ZNF682_ENST00000597972.1_Missense_Mutation_p.T175A|ZNF682_ENST00000397162.1_Missense_Mutation_p.T137A|ZNF682_ENST00000595736.1_Missense_Mutation_p.T93A	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	169					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.T169A(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGTTTCTCTGTAGTATGTCTT	0.308																																						uc002noq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(505-507)ACA>GCA		zinc finger protein 682 isoform 1							65.0	61.0	63.0					19																	20117806		1844	4103	5947	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117806T>C	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.505A>G	19.37:g.20117806T>C	ENSP00000380351:p.Thr169Ala					ZNF682_uc002noo.2_Missense_Mutation_p.T137A|ZNF682_uc002nop.2_Missense_Mutation_p.T137A|ZNF682_uc010eck.2_Missense_Mutation_p.T93A	p.T169A	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	628	-			169					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.505A>G	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	t	5.924	0.354561	0.11239	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.35605	1.3;1.3;1.3	1.23	-1.43	0.08884	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	N	0.05554	-0.025	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.22626	-1.0211	9	0.72032	D	0.01	.	5.6263	0.17485	0.0:0.6581:0.0:0.3419	.	169	O95780	ZN682_HUMAN	A	169;137;137	ENSP00000380351:T169A;ENSP00000380348:T137A;ENSP00000351324:T137A	ENSP00000351324:T137A	T	-	1	0	ZNF682	19978806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.317000	0.08060	-0.349000	0.08274	-0.483000	0.04790	ACA		PASS	0.308	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		7	10	7	10	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21300743	21300743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:21300743A>T	ENST00000596143.1	+	5	1598	c.1273A>T	c.(1273-1275)Aaa>Taa	p.K425*	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	425					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.K530*(1)|p.K425*(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GAAACTCTACAAATGTGAAGA	0.373																																						uc002npo.3																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1276-1278)AAA>TAA		zinc finger protein 714							39.0	42.0	41.0					19																	21300743		2172	4287	6459	SO:0001587	stop_gained	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300743A>T	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1273A>T	19.37:g.21300743A>T	ENSP00000472368:p.Lys425*					ZNF714_uc002npl.2_Nonsense_Mutation_p.K271*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.K377*|ZNF714_uc002npn.2_RNA	p.K426*	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1636	+			426			C2H2-type 12.		Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation	SNP	ENST00000596143.1	37	c.1276A>T	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	31	5.059007	0.93846	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.01	0.24857	1.0:0.0:0.0:0.0	.	.	.	.	X	425	.	ENSP00000291770:K425X	K	+	1	0	ZNF714	21092583	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.094000	0.00607	0.389000	0.25086	0.379000	0.24179	AAA		PASS	0.373	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		19	47	19	47	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22939151	22939151	+	IGR	SNP	G	G	T	rs74170732|rs551161479	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:22939151G>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Silent_p.A990A|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						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.A990A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACTGGTTAAAGGCTTTGCCAC	0.373																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2965-2967)GCC>GCA		zinc finger protein 99							51.0	70.0	64.0					19																	22939151		2018	4283	6301	SO:0001628	intergenic_variant	7652							g.chr19:22939151G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939151G>T							p.A989A	NM_001080409	NP_001073878					8	2967	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.2967C>A	CCDS59369.1																																																																																				PASS	0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	68	5	68	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23836363	23836363	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:23836363C>A	ENST00000359788.4	-	4	1540	c.1372G>T	c.(1372-1374)Ggc>Tgc	p.G458C	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	458					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G458C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGCTTTGCCACATTCTTCA	0.353																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1372-1374)GGC>TGC		zinc finger protein 675							40.0	43.0	42.0					19																	23836363		2200	4300	6500	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836363C>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1372G>T	19.37:g.23836363C>A	ENSP00000352836:p.Gly458Cys						p.G458C	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	1554	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	458			C2H2-type 12.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1372G>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204243	0.38905	.	.	ENSG00000197372	ENST00000359788	T	0.58797	0.31	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77618	0.4157	M	0.92923	3.36	0.36610	D	0.875146	D	0.89917	1.0	D	0.97110	1.0	T	0.80236	-0.1466	9	0.87932	D	0	.	8.5632	0.33523	0.0:1.0:0.0:0.0	.	458	Q8TD23	ZN675_HUMAN	C	458	ENSP00000352836:G458C	ENSP00000352836:G458C	G	-	1	0	ZNF675	23628203	0.970000	0.33590	0.191000	0.23289	0.193000	0.23685	2.721000	0.47260	0.293000	0.22520	0.298000	0.19748	GGC		PASS	0.353	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		6	40	6	40	---	---	---	---
PLEKHF1	79156	broad.mit.edu	37	19	30164785	30164785	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:30164785G>C	ENST00000436066.3	+	2	505	c.39G>C	c.(37-39)caG>caC	p.Q13H	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.Q13H	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	13					apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.Q13H(1)		breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TCAACAGCCAGCGCATCGCGG	0.667																																						uc002nsh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)CAG>CAC		apoptosis-inducing protein D							51.0	53.0	52.0					19																	30164785		2203	4300	6503	SO:0001583	missense	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30164785G>C	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.39G>C	19.37:g.30164785G>C	ENSP00000389787:p.Gln13His					PLEKHF1_uc002nsi.3_Missense_Mutation_p.Q98H	p.Q13H	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	141	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		13					Q96K11|Q9BUB9	Missense_Mutation	SNP	ENST00000436066.3	37	c.39G>C	CCDS12417.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767431	0.69878	.	.	ENSG00000166289	ENST00000436066	T	0.42900	0.96	5.68	3.51	0.40186	.	0.299441	0.38058	N	0.001822	T	0.41442	0.1159	N	0.22421	0.69	0.45477	D	0.998448	D;D	0.61697	0.99;0.99	P;P	0.54759	0.76;0.76	T	0.36040	-0.9764	10	0.72032	D	0.01	.	12.0241	0.53360	0.1419:0.0:0.8581:0.0	.	98;13	B4DWN9;Q96S99	.;PKHF1_HUMAN	H	13	ENSP00000389787:Q13H	ENSP00000389787:Q13H	Q	+	3	2	PLEKHF1	34856625	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	4.619000	0.61218	0.734000	0.32515	0.561000	0.74099	CAG		PASS	0.667	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		12	32	12	32	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37618677	37618677	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:37618677C>G	ENST00000337995.3	+	5	999	c.784C>G	c.(784-786)Cag>Gag	p.Q262E	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Missense_Mutation_p.Q262E	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q262E(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCCTTTACTCAGAATTCACA	0.388																																						uc002ofl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)CAG>GAG		zinc finger protein 420							72.0	81.0	78.0					19																	37618677		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618677C>G	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.784C>G	19.37:g.37618677C>G	ENSP00000338770:p.Gln262Glu						p.Q262E	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	999	+			262			C2H2-type 5.		B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.784C>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	C	7.814	0.716395	0.15306	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.35421	1.31;1.31	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24736	0.0600	L	0.37897	1.145	0.20196	N	0.999929	P	0.37731	0.607	B	0.30401	0.115	T	0.06625	-1.0816	9	0.26408	T	0.33	.	10.3711	0.44055	0.1965:0.8035:0.0:0.0	.	262	Q8TAQ5	ZN420_HUMAN	E	262	ENSP00000306102:Q262E;ENSP00000338770:Q262E	ENSP00000306102:Q262E	Q	+	1	0	ZNF420	42310517	0.000000	0.05858	1.000000	0.80357	0.949000	0.60115	-2.751000	0.00792	2.042000	0.60477	0.650000	0.86243	CAG		PASS	0.388	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		24	62	24	62	---	---	---	---
RASGRP4	115727	broad.mit.edu	37	19	38911579	38911579	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:38911579G>T	ENST00000587738.1	-	4	416	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	RASGRP4_ENST00000426920.2_Missense_Mutation_p.L116M|RASGRP4_ENST00000293062.9_Missense_Mutation_p.L116M|RASGRP4_ENST00000433821.2_Missense_Mutation_p.L116M|RASGRP4_ENST00000454404.2_Missense_Mutation_p.L116M|RASGRP4_ENST00000586305.1_Missense_Mutation_p.L116M|RASGRP4_ENST00000587753.1_Missense_Mutation_p.L116M			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	116	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.L116M(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGCCGTCTCAGCTCCTGGGTG	0.577																																						uc002oir.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|lung(1)|skin(1)	3						c.(346-348)CTG>ATG		RAS guanyl releasing protein 4 isoform a							101.0	111.0	108.0					19																	38911579		2002	4178	6180	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38911579G>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.346C>A	19.37:g.38911579G>T	ENSP00000465772:p.Leu116Met					RASGRP4_uc010efz.1_RNA|RASGRP4_uc010ega.1_RNA|RASGRP4_uc010xua.1_Missense_Mutation_p.L116M|RASGRP4_uc010xub.1_Missense_Mutation_p.L116M|RASGRP4_uc010xuc.1_Missense_Mutation_p.L116M|RASGRP4_uc010xud.1_Missense_Mutation_p.L116M|RASGRP4_uc010xue.1_Missense_Mutation_p.L116M|RASGRP4_uc010egb.2_Missense_Mutation_p.L116M	p.L116M	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	560	-	all_cancers(60;4.21e-06)		116			N-terminal Ras-GEF.		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.346C>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725946	0.48833	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	3.89	3.89	0.44902	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.914594	0.09274	N	0.824709	T	0.33381	0.0861	L	0.44542	1.39	0.27760	N	0.943877	P;P;P;P;B;B;P	0.41041	0.736;0.736;0.47;0.612;0.153;0.016;0.612	B;B;B;B;B;B;B	0.38712	0.28;0.28;0.244;0.259;0.117;0.062;0.259	T	0.20472	-1.0274	10	0.56958	D	0.05	-3.1931	11.5686	0.50820	0.0:0.0:1.0:0.0	.	116;116;116;116;116;116;116	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	M	116	ENSP00000411878:L116M;ENSP00000293062:L116M;ENSP00000445966:L116M;ENSP00000416463:L116M	ENSP00000293062:L116M	L	-	1	2	RASGRP4	43603419	0.696000	0.27757	1.000000	0.80357	0.783000	0.44284	1.643000	0.37217	2.179000	0.69175	0.563000	0.77884	CTG		PASS	0.577	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		17	44	17	44	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38993342	38993342	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:38993342G>A	ENST00000359596.3	+	48	7810	c.7810G>A	c.(7810-7812)Gag>Aag	p.E2604K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2604K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2604K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2604	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E2604K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGACGTCATCGAGGACTGCCT	0.687																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7810-7812)GAG>AAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						58.0	48.0	51.0					19																	38993342		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993342G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7810G>A	19.37:g.38993342G>A	ENSP00000352608:p.Glu2604Lys					RYR1_uc002oiu.2_Missense_Mutation_p.E2604K|RYR1_uc002oiv.1_5'UTR	p.E2604K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7940	+	all_cancers(60;7.91e-06)		2604			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7810G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.894758	0.33442	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96300	-3.97;-3.97;-3.97	4.08	3.04	0.35103	.	0.074615	0.50627	N	0.000104	D	0.96219	0.8767	M	0.73598	2.24	0.45239	D	0.998241	D;D	0.60160	0.987;0.978	P;P	0.51415	0.669;0.469	D	0.95173	0.8292	10	0.51188	T	0.08	.	11.3064	0.49338	0.0928:0.0:0.9072:0.0	.	2604;2604	P21817-2;P21817	.;RYR1_HUMAN	K	2604	ENSP00000352608:E2604K;ENSP00000347667:E2604K;ENSP00000354254:E2604K	ENSP00000347667:E2604K	E	+	1	0	RYR1	43685182	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.456000	0.97628	1.072000	0.40860	-0.349000	0.07799	GAG		PASS	0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	12	6	12	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39100635	39100635	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:39100635G>T	ENST00000591517.1	-	12	869	c.841C>A	c.(841-843)Cga>Aga	p.R281R	MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000589130.1_Silent_p.R277R|MAP4K1_ENST00000586296.1_Silent_p.R281R|MAP4K1_ENST00000396857.2_Silent_p.R281R|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	281					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R281R(2)|p.R281*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCAGGCCTCGATTCAGCCCA	0.577																																						uc002oix.1																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(2)|breast(2)	skin(4)|lung(3)|ovary(1)	8						c.(841-843)CGA>AGA		mitogen-activated protein kinase kinase kinase							61.0	61.0	61.0					19																	39100635		1931	4140	6071	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39100635G>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.841C>A	19.37:g.39100635G>T						MAP4K1_uc002oiw.1_5'Flank|MAP4K1_uc002oiy.1_Silent_p.R281R|MAP4K1_uc010xug.1_5'UTR	p.R281R	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		12	949	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		281						Silent	SNP	ENST00000591517.1	37	c.841C>A	CCDS59385.1																																																																																				PASS	0.577	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		16	30	16	30	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40368472	40368472	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:40368472G>A	ENST00000221347.6	-	28	12883	c.12876C>T	c.(12874-12876)acC>acT	p.T4292T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4292	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.T4292T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CATGGCAGGTGGTGAAGGGGC	0.627																																						uc002omp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12874-12876)ACC>ACT		Fc fragment of IgG binding protein precursor							104.0	100.0	101.0					19																	40368472		2203	4298	6501	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368472G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12876C>T	19.37:g.40368472G>A							p.T4292T	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12884	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4292			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12876C>T	CCDS12546.1																																																																																				PASS	0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	61	13	61	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40433521	40433521	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:40433521T>A	ENST00000221347.6	-	2	755	c.748A>T	c.(748-750)Acc>Tcc	p.T250S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	250	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)		p.T250S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATAGTGGGTGCCCCAGGCA	0.582																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(748-750)ACC>TCC		Fc fragment of IgG binding protein precursor							63.0	56.0	59.0					19																	40433521		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433521T>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.748A>T	19.37:g.40433521T>A	ENSP00000221347:p.Thr250Ser						p.T250S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	756	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		250			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.748A>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873678	0.33069	.	.	ENSG00000090920	ENST00000221347	T	0.19105	2.17	4.41	4.41	0.53225	.	0.370724	0.18775	N	0.131503	T	0.21468	0.0517	L	0.29908	0.895	0.20489	N	0.999892	D	0.57257	0.979	P	0.51777	0.679	T	0.06481	-1.0824	10	0.25751	T	0.34	.	10.0473	0.42195	0.0:0.0:0.1688:0.8312	.	250	Q9Y6R7	FCGBP_HUMAN	S	250	ENSP00000221347:T250S	ENSP00000221347:T250S	T	-	1	0	FCGBP	45125361	0.316000	0.24580	0.942000	0.38095	0.423000	0.31445	3.855000	0.55957	2.211000	0.71520	0.533000	0.62120	ACC		PASS	0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	23	13	23	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42486229	42486229	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:42486229C>A	ENST00000302102.5	-	9	1173	c.1023G>T	c.(1021-1023)atG>atT	p.M341I	ATP1A3_ENST00000545399.1_Missense_Mutation_p.M354I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.M311I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M352I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	341					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.M341I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						tcttccGGGCCATGCGCTTGG	0.607																																						uc002osg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1021-1023)ATG>ATT		Na+/K+ -ATPase alpha 3 subunit							120.0	113.0	115.0					19																	42486229		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42486229C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1023G>T	19.37:g.42486229C>A	ENSP00000302397:p.Met341Ile					ATP1A3_uc010xwf.1_Missense_Mutation_p.M352I|ATP1A3_uc010xwg.1_Missense_Mutation_p.M311I|ATP1A3_uc010xwh.1_Missense_Mutation_p.M354I|ATP1A3_uc002osh.2_Missense_Mutation_p.M341I	p.M341I	NM_152296	NP_689509	P13637	AT1A3_HUMAN			9	1177	-			341			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1023G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802487	0.90538	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	4.21	4.21	0.49690	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	H	0.94462	3.54	0.80722	D	1	D;P;P;P	0.71674	0.998;0.875;0.947;0.897	D;P;D;P	0.75484	0.986;0.804;0.93;0.876	D	0.97279	0.9916	10	0.87932	D	0	.	14.4662	0.67485	0.0:1.0:0.0:0.0	.	354;352;341;341	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	341;341;354;311;85;352	ENSP00000302397:M341I;ENSP00000411503:M341I;ENSP00000444688:M354I;ENSP00000437577:M352I	ENSP00000302397:M341I	M	-	3	0	ATP1A3	47178069	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.625000	0.83145	2.357000	0.79964	0.561000	0.74099	ATG		PASS	0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		18	59	18	59	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43375969	43375969	+	Missense_Mutation	SNP	C	C	T	rs200725827		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:43375969C>T	ENST00000436291.2	-	3	775	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	PSG1_ENST00000312439.6_Missense_Mutation_p.R220Q|PSG1_ENST00000244296.2_Missense_Mutation_p.R220Q|PSG1_ENST00000595356.1_Missense_Mutation_p.R220Q|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	220	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R220Q(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CACTGGGTTCCGTATTTCACA	0.517																																						uc002ovb.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(658-660)CGG>CAG		pregnancy specific beta-1-glycoprotein 1							202.0	211.0	208.0					19																	43375969		2201	4297	6498	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43375969C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.659G>A	19.37:g.43375969C>T	ENSP00000413041:p.Arg220Gln					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R220Q|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R220Q|PSG1_uc010eio.1_Missense_Mutation_p.R220Q|PSG1_uc002oux.1_Missense_Mutation_p.R149Q|PSG1_uc002ouy.1_Missense_Mutation_p.R220Q|PSG1_uc002ouz.1_Missense_Mutation_p.R220Q|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.R220Q	p.R220Q	NM_006905	NP_008836	P11464	PSG1_HUMAN			3	797	-		Prostate(69;0.00682)	220			Ig-like C2-type 1.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.659G>A	CCDS54275.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	0.020	-1.447966	0.01080	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.12672	2.66;2.66;2.66	1.64	-3.28	0.05033	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04543	0.0124	N	0.10945	0.07	0.09310	N	1	B;B;B;B;B;B;B;B	0.28324	0.099;0.005;0.128;0.053;0.144;0.034;0.207;0.105	B;B;B;B;B;B;B;B	0.21917	0.037;0.005;0.023;0.022;0.037;0.037;0.037;0.022	T	0.29058	-1.0024	9	0.22109	T	0.4	.	0.5759	0.00703	0.1802:0.3585:0.1796:0.2818	.	220;220;220;220;220;92;220;220	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	Q	220	ENSP00000413041:R220Q;ENSP00000308970:R220Q;ENSP00000244296:R220Q	ENSP00000244296:R220Q	R	-	2	0	PSG1	48067809	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.061000	0.00623	-2.534000	0.00489	-2.741000	0.00127	CGG		PASS	0.517	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			8	294	8	294	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43430142	43430142	+	RNA	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:43430142G>A	ENST00000406070.2	-	0	1122				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGGTAATAGGTGAATGAAG	0.478																																						uc002ovl.3																			0					0						c.(1024-1026)ACC>ACT		pregnancy specific beta-1-glycoprotein 7							137.0	149.0	145.0					19																	43430142		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43430142G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430142G>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Silent_p.T255T|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Silent_p.T68T|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.T255T|PSG7_uc010xwl.1_Silent_p.T220T	p.T342T	NM_002783	NP_002774	Q13046	PSG7_HUMAN			6	1128	-		Prostate(69;0.00682)	342			Ig-like C2-type 3.		Q15232	Silent	SNP	ENST00000406070.2	37	c.1026C>T																																																																																					PASS	0.478	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		44	150	44	150	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45317915	45317915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:45317915G>T	ENST00000270233.6	+	8	998	c.976G>T	c.(976-978)Gga>Tga	p.G326*	BCAM_ENST00000589651.1_Nonsense_Mutation_p.G326*	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	326	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.G326*(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GACCCTGGAGGGAGTGACCCG	0.632																																						uc002ozu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(976-978)GGA>TGA		basal cell adhesion molecule isoform 1							94.0	89.0	91.0					19																	45317915		2203	4300	6503	SO:0001587	stop_gained	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317915G>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.976G>T	19.37:g.45317915G>T	ENSP00000270233:p.Gly326*					BCAM_uc002ozt.1_Nonsense_Mutation_p.G326*	p.G326*	NM_005581	NP_005572	P50895	BCAM_HUMAN			8	1020	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	326			Extracellular (Potential).|Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Nonsense_Mutation	SNP	ENST00000270233.6	37	c.976G>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356889	0.41801	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	.	.	.	4.43	-4.84	0.03151	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-3.9201	1.3646	0.02198	0.2897:0.2395:0.3433:0.1274	.	.	.	.	X	326	.	ENSP00000270233:G326X	G	+	1	0	BCAM	50009755	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.606000	0.05654	-0.633000	0.05545	0.462000	0.41574	GGA		PASS	0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		12	27	12	27	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46313920	46313920	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:46313920C>G	ENST00000221538.3	-	2	971	c.829G>C	c.(829-831)Gcg>Ccg	p.A277P	RSPH6A_ENST00000600188.1_Missense_Mutation_p.A13P|RSPH6A_ENST00000597055.1_Missense_Mutation_p.A277P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	277						intracellular (GO:0005622)		p.A277P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTGAACAGCGCCTTCTGTTTC	0.632																																						uc002pdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(829-831)GCG>CCG		radial spokehead-like 1							137.0	122.0	127.0					19																	46313920		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46313920C>G	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.829G>C	19.37:g.46313920C>G	ENSP00000221538:p.Ala277Pro					RSPH6A_uc002pdl.2_Missense_Mutation_p.A13P	p.A277P	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			2	972	-			277					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.829G>C	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198062	0.58126	.	.	ENSG00000104941	ENST00000221538	T	0.18502	2.21	4.82	2.68	0.31781	.	0.517494	0.20707	N	0.087180	T	0.25865	0.0630	L	0.47716	1.5	0.29968	N	0.818797	D	0.65815	0.995	P	0.60541	0.876	T	0.03000	-1.1084	10	0.42905	T	0.14	-45.784	7.6793	0.28505	0.1671:0.7431:0.0:0.0898	.	277	Q9H0K4	RSH6A_HUMAN	P	277	ENSP00000221538:A277P	ENSP00000221538:A277P	A	-	1	0	RSPH6A	51005760	0.599000	0.26891	1.000000	0.80357	0.799000	0.45148	1.147000	0.31602	1.378000	0.46305	0.650000	0.86243	GCG		PASS	0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			22	62	22	62	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49658431	49658431	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:49658431G>A	ENST00000252825.4	-	1	250	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F	TRPM4_ENST00000427978.2_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.L22F|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	22					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.L22F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCGGGGGGAGGAGCAGGCTG	0.667																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)CTC>TTC		histidine rich calcium binding protein							40.0	43.0	42.0					19																	49658431		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658431G>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.64C>T	19.37:g.49658431G>A	ENSP00000252825:p.Leu22Phe					TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	p.L22F	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	251	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	22					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.64C>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408083	0.62399	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.38401	1.14	3.48	2.4	0.29515	.	.	.	.	.	T	0.47544	0.1451	L	0.60455	1.87	0.23010	N	0.998431	D	0.69078	0.997	P	0.61397	0.888	T	0.23261	-1.0193	9	0.66056	D	0.02	-5.7999	5.9854	0.19432	0.0:0.2254:0.5638:0.2108	.	22	P23327	SRCH_HUMAN	F	22	ENSP00000252825:L22F	ENSP00000252825:L22F	L	-	1	0	HRC	54350243	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	0.744000	0.26245	0.980000	0.38523	0.561000	0.74099	CTC		PASS	0.667	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		11	15	11	15	---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329879	51329879	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:51329879C>T	ENST00000598239.1	-	4	646	c.616G>A	c.(616-618)Gag>Aag	p.E206K	KLK15_ENST00000326856.4_Missense_Mutation_p.E205K|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000416184.1_Intron|KLK1_ENST00000448701.2_5'Flank	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	206	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E206K(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCTCTGACCTCACAGGATTCT	0.582																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(616-618)GAG>AAG		kallikrein-related peptidase 15 isoform 4							79.0	82.0	81.0					19																	51329879		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329879C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.616G>A	19.37:g.51329879C>T	ENSP00000469315:p.Glu206Lys					KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.E205K|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	p.E206K	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	647	-		all_neural(266;0.057)	206			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.616G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.188051	0.78789	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.08	4.08	0.47627	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42548	D	0.000689	T	0.32734	0.0839	N	0.02334	-0.595	0.80722	D	1	B;P	0.48640	0.238;0.913	B;P	0.52957	0.101;0.714	T	0.41395	-0.9511	9	0.72032	D	0.01	.	10.093	0.42458	0.0:0.7953:0.2047:0.0	.	205;206	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	K	206	.	ENSP00000314783:E206K	E	-	1	0	KLK15	56021691	0.999000	0.42202	0.999000	0.59377	0.740000	0.42216	3.316000	0.51960	2.293000	0.77203	0.455000	0.32223	GAG		PASS	0.582	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		11	56	11	56	---	---	---	---
KLK5	25818	broad.mit.edu	37	19	51452188	51452188	+	Silent	SNP	G	G	A	rs201276529	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:51452188G>A	ENST00000336334.3	-	4	871	c.519C>T	c.(517-519)aaC>aaT	p.N173N	KLK5_ENST00000593428.1_Silent_p.N173N|KLK5_ENST00000391809.2_Silent_p.N173N|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	173	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.N173N(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GAGAGGAGACGTTGATGGGTC	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		14674	0.0		0.001	False		,,,				2504	0.001					uc002pue.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)AAC>AAT		kallikrein-related peptidase 5 preproprotein							97.0	98.0	98.0					19																	51452188		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51452188G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.519C>T	19.37:g.51452188G>A						KLK5_uc002puf.2_Silent_p.N173N|KLK5_uc002pug.2_Silent_p.N173N	p.N173N	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	737	-		all_neural(266;0.026)	173			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.519C>T	CCDS12810.1																																																																																				PASS	0.537	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		8	30	8	30	---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448633	52448633	+	Silent	SNP	C	C	T	rs370685351		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:52448633C>T	ENST00000293471.6	+	6	2176	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Silent_p.L463L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L499L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AATCATGTCTCAACAGACATC	0.448																																						uc002pxz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1495-1497)CTC>CTT		zinc finger protein 613 isoform 1							79.0	67.0	71.0					19																	52448633		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448633C>T	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1497C>T	19.37:g.52448633C>T						ZNF613_uc002pya.1_Silent_p.L463L	p.L499L	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1920	+		all_neural(266;0.117)	499			C2H2-type 11.		Q96SS9	Silent	SNP	ENST00000293471.6	37	c.1497C>T	CCDS33089.1																																																																																				PASS	0.448	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		15	33	15	33	---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53741317	53741317	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:53741317G>T	ENST00000598513.1	-	5	813	c.663C>A	c.(661-663)atC>atA	p.I221I	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Silent_p.I221I	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	221					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.I221I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGGAACTATTGATAGACTTCT	0.343																																						uc002qbf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)ATC>ATA		zinc finger protein 677							55.0	56.0	56.0					19																	53741317		2203	4300	6503	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741317G>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.663C>A	19.37:g.53741317G>T						ZNF677_uc002qbg.1_Silent_p.I221I	p.I221I	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	848	-			221						Silent	SNP	ENST00000598513.1	37	c.663C>A	CCDS12861.1																																																																																				PASS	0.343	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		8	32	8	32	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54314451	54314451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:54314451G>T	ENST00000324134.6	-	3	630	c.462C>A	c.(460-462)agC>agA	p.S154R	NLRP12_ENST00000391772.1_Missense_Mutation_p.S154R|NLRP12_ENST00000535162.1_Missense_Mutation_p.S154R|NLRP12_ENST00000351894.4_Missense_Mutation_p.S154R|NLRP12_ENST00000354278.3_Missense_Mutation_p.S154R|NLRP12_ENST00000391775.3_Missense_Mutation_p.S154R|NLRP12_ENST00000391773.1_Missense_Mutation_p.S154R|NLRP12_ENST00000345770.5_Missense_Mutation_p.S154R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	154					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.S154R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTACCGGTGGCTGAGGTTGA	0.617																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(460-462)AGC>AGA		NLR family, pyrin domain containing 12 isoform							86.0	83.0	84.0					19																	54314451		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314451G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.462C>A	19.37:g.54314451G>T	ENSP00000319377:p.Ser154Arg					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.S154R|NLRP12_uc002qcj.3_Missense_Mutation_p.S154R|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.S154R	p.S154R	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	682	-	Ovarian(34;0.19)		154					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.462C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902047	0.33628	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.47	0.85	0.18980	.	0.000000	0.51477	D	0.000096	T	0.81922	0.4925	M	0.72118	2.19	0.80722	D	1	B;B;B;B	0.33549	0.417;0.261;0.417;0.31	B;B;B;B	0.24269	0.052;0.028;0.052;0.039	T	0.71596	-0.4545	10	0.23891	T	0.37	.	4.8244	0.13408	0.2784:0.1664:0.5553:0.0	.	154;154;154;154	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	154	ENSP00000319377:S154R;ENSP00000438030:S154R;ENSP00000340473:S154R;ENSP00000346231:S154R;ENSP00000375655:S154R;ENSP00000375653:S154R;ENSP00000375652:S154R	ENSP00000319377:S154R	S	-	3	2	NLRP12	59006263	0.083000	0.21467	0.607000	0.28956	0.988000	0.76386	0.416000	0.21198	0.405000	0.25532	0.306000	0.20318	AGC		PASS	0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		25	62	25	62	---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953379	56953379	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:56953379G>T	ENST00000504904.3	-	7	1704	c.985C>A	c.(985-987)Cct>Act	p.P329T	ZNF667_ENST00000292069.6_Missense_Mutation_p.P329T|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.P457T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	329					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.P329T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATTTAAAAGGATTCTCTAAA	0.368																																						uc002qnd.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(985-987)CCT>ACT		zinc finger protein 667							99.0	103.0	102.0					19																	56953379		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953379G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.985C>A	19.37:g.56953379G>T	ENSP00000439402:p.Pro329Thr					ZNF667_uc010etl.2_Missense_Mutation_p.P111T|ZNF667_uc002qne.2_Missense_Mutation_p.P329T|ZNF667_uc010etm.2_Missense_Mutation_p.P272T	p.P329T	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1147	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	329					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.985C>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556176	0.45487	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.33654	1.4;1.4;1.4	5.05	2.91	0.33838	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163614	0.29383	N	0.012311	T	0.48750	0.1517	M	0.62723	1.935	0.33833	D	0.630453	D;D	0.60160	0.987;0.976	P;P	0.60789	0.879;0.783	T	0.61446	-0.7061	10	0.62326	D	0.03	-6.5954	8.3664	0.32389	0.0864:0.1573:0.7563:0.0	.	457;329	E7EPS0;Q5HYK9	.;ZN667_HUMAN	T	457;329;329;111;101	ENSP00000344699:P457T;ENSP00000439402:P329T;ENSP00000292069:P329T	ENSP00000292069:P329T	P	-	1	0	ZNF667	61645191	1.000000	0.71417	0.961000	0.40146	0.662000	0.39071	2.171000	0.42453	0.704000	0.31869	0.591000	0.81541	CCT		PASS	0.368	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		15	66	15	66	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175029	57175029	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:57175029G>T	ENST00000537055.2	-	2	1769	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	513					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.P535H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGAGAGCCCAGGTGTTGAGTC	0.612																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(1603-1605)CCT>CAT		zinc finger protein 835							80.0	88.0	86.0					19																	57175029		2179	4289	6468	SO:0001583	missense	90485							g.chr19:57175029G>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1538C>A	19.37:g.57175029G>T	ENSP00000444747:p.Pro513His					ZNF835_uc010ygn.1_Missense_Mutation_p.P513H	p.P535H	NM_001005850	NP_001005850					2	1604	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1604C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370992	0.24771	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	2.15	1.04	0.20106	.	.	.	.	.	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	D	0.60160	0.987	P	0.52481	0.7	T	0.34254	-0.9836	9	0.52906	T	0.07	.	7.7752	0.29033	0.0:0.0:0.7492:0.2508	.	535	Q9Y2P0	ZN835_HUMAN	H	535;513	ENSP00000444747:P513H	ENSP00000341756:P535H	P	-	2	0	ZNF835	61866841	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	0.141000	0.16076	0.429000	0.26202	0.561000	0.74099	CCT		PASS	0.612	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		5	77	5	77	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326183	57326183	+	Silent	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:57326183C>A	ENST00000326441.9	-	10	3990	c.3627G>T	c.(3625-3627)cgG>cgT	p.R1209R	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.R1209R|PEG3_ENST00000598410.1_Silent_p.R1085R|PEG3_ENST00000593695.1_Silent_p.R1083R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1209					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1209R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACGATTCCTCCGTGGCTTCA	0.493																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3625-3627)CGG>CGT		paternally expressed 3 isoform 1							116.0	112.0	114.0					19																	57326183		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326183C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3627G>T	19.37:g.57326183C>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R1180R|PEG3_uc002qnv.2_Silent_p.R1209R|PEG3_uc002qnw.2_Silent_p.R1085R|PEG3_uc002qnx.2_Silent_p.R1083R|PEG3_uc010etr.2_Silent_p.R1209R	p.R1209R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3978	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1209					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3627G>T	CCDS12948.1																																																																																				PASS	0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			28	70	28	70	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327459	57327459	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:57327459G>T	ENST00000326441.9	-	10	2714	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S784Y|PEG3_ENST00000598410.1_Missense_Mutation_p.S660Y|PEG3_ENST00000593695.1_Missense_Mutation_p.S658Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	784					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S784Y(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCTTCCACAGAGGCTAAGCT	0.428																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2350-2352)TCT>TAT		paternally expressed 3 isoform 1							183.0	179.0	180.0					19																	57327459		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327459G>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2351C>A	19.37:g.57327459G>T	ENSP00000326581:p.Ser784Tyr					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S755Y|PEG3_uc002qnv.2_Missense_Mutation_p.S784Y|PEG3_uc002qnw.2_Missense_Mutation_p.S660Y|PEG3_uc002qnx.2_Missense_Mutation_p.S658Y|PEG3_uc010etr.2_Missense_Mutation_p.S784Y	p.S784Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2702	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	784					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2351C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.065	0.567174	0.13560	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03004	4.08;4.08	4.11	2.01	0.26516	.	0.572139	0.16049	N	0.232070	T	0.04003	0.0112	L	0.54323	1.7	.	.	.	B;P;P	0.36222	0.139;0.483;0.544	B;B;B	0.33392	0.039;0.113;0.163	T	0.16928	-1.0386	9	0.66056	D	0.02	-7.486	4.6163	0.12428	0.3586:0.0:0.6414:0.0	.	660;784;719	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	784	ENSP00000326581:S784Y;ENSP00000403051:S784Y	ENSP00000326581:S784Y	S	-	2	0	ZIM2	62019271	0.002000	0.14202	0.003000	0.11579	0.261000	0.26267	1.350000	0.34010	0.547000	0.28938	0.585000	0.79938	TCT		PASS	0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			6	142	6	142	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57646983	57646983	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:57646983T>G	ENST00000269834.1	-	5	1107	c.722A>C	c.(721-723)cAt>cCt	p.H241P	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	241					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.H241P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTTTCTGATGTTGAAAGAG	0.373																																						uc002qnz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(721-723)CAT>CCT		zinc finger, imprinted 3							127.0	125.0	126.0					19																	57646983		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646983T>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.722A>C	19.37:g.57646983T>G	ENSP00000269834:p.His241Pro						p.H241P	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1108	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	241			C2H2-type 3.		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.722A>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388708	0.25118	.	.	ENSG00000141946	ENST00000269834	D	0.86865	-2.18	2.53	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94155	0.8125	H	0.95780	3.72	0.27876	N	0.939863	D	0.89917	1.0	D	0.97110	1.0	D	0.85688	0.1305	9	0.87932	D	0	.	5.9224	0.19091	0.2338:0.0:0.0:0.7662	.	241	Q96PE6	ZIM3_HUMAN	P	241	ENSP00000269834:H241P	ENSP00000269834:H241P	H	-	2	0	ZIM3	62338795	0.987000	0.35691	0.612000	0.29024	0.056000	0.15407	3.382000	0.52463	0.170000	0.19704	0.260000	0.18958	CAT		PASS	0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			13	58	13	58	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58187877	58187877	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:58187877C>A	ENST00000318203.5	+	3	1061	c.364C>A	c.(364-366)Ctg>Atg	p.L122M		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L122M(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAGAAGACCTGACTGATGA	0.423																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CTG>ATG		zinc finger and SCAN domain containing 4							84.0	81.0	82.0					19																	58187877		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187877C>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.364C>A	19.37:g.58187877C>A	ENSP00000321963:p.Leu122Met						p.L122M	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1061	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	122			SCAN box.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.364C>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278991	0.40294	.	.	ENSG00000180532	ENST00000318203	T	0.07567	3.18	4.42	-0.162	0.13367	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.186162	0.26400	N	0.024581	T	0.12860	0.0312	M	0.79926	2.475	0.09310	N	1	P	0.48230	0.907	P	0.48840	0.592	T	0.13845	-1.0494	10	0.72032	D	0.01	-12.3773	1.1778	0.01839	0.1967:0.4427:0.1654:0.1952	.	122	Q8NAM6	ZSCA4_HUMAN	M	122	ENSP00000321963:L122M	ENSP00000321963:L122M	L	+	1	2	ZSCAN4	62879689	0.008000	0.16893	0.001000	0.08648	0.006000	0.05464	-0.031000	0.12287	0.068000	0.16574	-0.274000	0.10170	CTG		PASS	0.423	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		15	39	15	39	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3888926	3888926	+	Splice_Site	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:3888926G>A	ENST00000316562.4	+	2	987		c.e2+1		PANK2_ENST00000610179.1_Splice_Site|PANK2_ENST00000497424.1_Splice_Site	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2						aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTTCTCACAGTATGCATTTT	0.348																																						uc002wkc.2																			1	Unknown(1)		lung(1)		0						c.e2+1		pantothenate kinase 2 isoform 1 preproprotein							72.0	70.0	70.0					20																	3888926		2203	4300	6503	SO:0001630	splice_region_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3888926G>A	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.981+1G>A	20.37:g.3888926G>A						PANK2_uc002wkb.2_Splice_Site_p.T36_splice|PANK2_uc010gbd.1_Splice_Site|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Splice_Site_p.T36_splice|PANK2_uc002wkf.2_Intron	p.T327_splice	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN			2	987	+								B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Splice_Site	SNP	ENST00000316562.4	37	c.981_splice	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937703	0.73557	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0737	0.80955	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PANK2	3836926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.525000	0.98039	2.733000	0.93635	0.591000	0.81541	.		PASS	0.348	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960	Intron	6	16	6	16	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022723	31022723	+	Silent	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:31022723A>T	ENST00000375687.4	+	13	2632	c.2208A>T	c.(2206-2208)acA>acT	p.T736T	ASXL1_ENST00000306058.5_Silent_p.T731T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	736					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.T736T(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						AGAGGGCTACAGTTGGACTCA	0.592			"""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 - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(2206-2208)ACA>ACT		additional sex combs like 1 isoform 1							52.0	53.0	52.0					20																	31022723		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022723A>T	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.2208A>T	20.37:g.31022723A>T						ASXL1_uc010geb.2_Silent_p.T627T	p.T736T	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2634	+			736					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.2208A>T	CCDS13201.1																																																																																				PASS	0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		6	25	6	25	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31381363	31381363	+	Missense_Mutation	SNP	G	G	A	rs138596278		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:31381363G>A	ENST00000328111.2	+	10	1409	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	363					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R363H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tcgaaggtgcgtcgtgcaggc	0.368																																						uc002wyc.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(1087-1089)CGT>CAT		DNA cytosine-5 methyltransferase 3 beta isoform		G	,,HIS/ARG,,,	2,4404	4.2+/-10.8	0,2,2201	154.0	128.0	137.0		,,1088,,,	1.9	1.0	20	dbSNP_134	137	0,8600		0,0,4300	no	intron,intron,missense,intron,intron,intron	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,29,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,probably-damaging,,,	,,363/854,,,	31381363	2,13004	2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31381363G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1088G>A	20.37:g.31381363G>A	ENSP00000328547:p.Arg363His					DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Intron|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_Intron|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Intron|DNMT3B_uc002wyg.2_Missense_Mutation_p.R62H	p.R363H	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			10	1409	+			363					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1088G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	8.694	0.908110	0.17833	4.54E-4	0.0	ENSG00000088305	ENST00000328111	D	0.96716	-4.1	3.81	1.85	0.25348	.	0.174184	0.36740	N	0.002439	D	0.89815	0.6824	L	0.36672	1.1	0.80722	D	1	P;B	0.41265	0.744;0.001	B;B	0.29785	0.107;0.001	D	0.85046	0.0926	10	0.44086	T	0.13	-5.149	6.082	0.19946	0.2334:0.0:0.7666:0.0	.	62;363	B3KM53;Q9UBC3	.;DNM3B_HUMAN	H	363	ENSP00000328547:R363H	ENSP00000328547:R363H	R	+	2	0	DNMT3B	30845024	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.182000	0.16900	0.585000	0.29608	0.555000	0.69702	CGT		PASS	0.368	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		6	19	6	19	---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36375010	36375010	+	Splice_Site	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:36375010A>T	ENST00000361383.6	+	4	583		c.e4+1		CTNNBL1_ENST00000373473.1_5'UTR|CTNNBL1_ENST00000405275.2_Splice_Site	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.D156V(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GATAATACAGATATCCTTTCA	0.498																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.e4+2		beta catenin-like 1							92.0	89.0	90.0					20																	36375010		2203	4300	6503	SO:0001630	splice_region_variant	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36375010A>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.466+1A>T	20.37:g.36375010A>T						CTNNBL1_uc002xhh.2_5'UTR|CTNNBL1_uc010zvv.1_Missense_Mutation_p.D129V	p.T155_splice	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			4	556	+		Myeloproliferative disorder(115;0.00878)						B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Splice_Site	SNP	ENST00000361383.6	37	c.465_splice	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350167	0.82132	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3052	0.66380	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNBL1	35808424	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.081000	0.94049	2.165000	0.68154	0.482000	0.46254	.		PASS	0.498	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	Intron	5	54	5	54	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40068760	40068760	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:40068760C>T	ENST00000373233.3	-	26	4064	c.3887G>A	c.(3886-3888)aGg>aAg	p.R1296K	CHD6_ENST00000309279.7_Missense_Mutation_p.R779K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1296					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R1296K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCATTGTACCTTTCATAACC	0.443																																						uc002xka.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3886-3888)AGG>AAG		chromodomain helicase DNA binding protein 6							102.0	96.0	98.0					20																	40068760		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40068760C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3887G>A	20.37:g.40068760C>T	ENSP00000362330:p.Arg1296Lys					CHD6_uc002xkb.1_Missense_Mutation_p.R62K	p.R1296K	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			26	4065	-		Myeloproliferative disorder(115;0.00425)	1296					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3887G>A	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.76|11.76	1.735212|1.735212	0.30774|0.30774	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	.|D;D	.|0.82433	.|-1.61;-1.61	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	D|D	0.84192|0.84192	0.5418|0.5418	L|L	0.32530|0.32530	0.975|0.975	0.28193|0.28193	N|N	0.927664|0.927664	.|P;B	.|0.50156	.|0.932;0.02	.|P;B	.|0.60012	.|0.867;0.023	T|T	0.73424|0.73424	-0.3987|-0.3987	5|10	.|0.07030	.|T	.|0.85	-23.1675|-23.1675	19.5297|19.5297	0.95223|0.95223	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|779;1296	.|C9JFU2;Q8TD26	.|.;CHD6_HUMAN	S|K	482|1296;779	.|ENSP00000362330:R1296K;ENSP00000308684:R779K	.|ENSP00000308684:R779K	G|R	-|-	1|2	0|0	CHD6|CHD6	39502174|39502174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	4.373000|4.373000	0.59537|0.59537	2.712000|2.712000	0.92718|0.92718	0.563000|0.563000	0.77884|0.77884	GGT|AGG		PASS	0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	42	10	42	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44675020	44675020	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:44675020G>T	ENST00000454036.2	+	14	1850	c.1801G>T	c.(1801-1803)Gtg>Ttg	p.V601L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V578L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	601					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V578L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCTGTGCAGTGCAGACGCT	0.552																																						uc010zxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1801-1803)GTG>TTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						129.0	110.0	116.0					20																	44675020		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44675020G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1801G>T	20.37:g.44675020G>T	ENSP00000387694:p.Val601Leu					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.V578L	p.V601L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			14	1877	+		Myeloproliferative disorder(115;0.0122)	601			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1801G>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576404	0.00887	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98512	-4.97;-4.97	4.45	3.5	0.40072	Amino acid permease domain (1);	0.260809	0.33005	N	0.005383	D	0.90659	0.7070	N	0.01250	-0.93	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.002	D	0.84859	0.0818	10	0.02654	T	1	.	15.3791	0.74637	0.0:0.0:0.8579:0.1421	.	601;578	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	L	601;578	ENSP00000387694:V601L;ENSP00000243964:V578L	ENSP00000243964:V578L	V	+	1	0	SLC12A5	44108427	0.998000	0.40836	0.349000	0.25694	0.139000	0.21198	2.966000	0.49208	0.518000	0.28383	-1.469000	0.01011	GTG		PASS	0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			7	35	7	35	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027876	55027876	+	Silent	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:55027876G>A	ENST00000360314.3	+	6	1869	c.1644G>A	c.(1642-1644)gtG>gtA	p.V548V	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Silent_p.V548V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	548					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V548V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGTTCTTGTGACTGACAGTG	0.493																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1642-1644)GTG>GTA		HEF-like protein isoform a							94.0	86.0	89.0					20																	55027876		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027876G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1644G>A	20.37:g.55027876G>A						CASS4_uc002xxq.3_Silent_p.V548V|CASS4_uc002xxr.2_Silent_p.V548V|CASS4_uc010zze.1_Silent_p.V494V|CASS4_uc010gio.2_Intron	p.V548V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1869	+			548					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.1644G>A	CCDS33492.1																																																																																				PASS	0.493	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		6	35	6	35	---	---	---	---
EDN3	1908	broad.mit.edu	37	20	57896155	57896155	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:57896155A>T	ENST00000337938.2	+	3	835	c.449A>T	c.(448-450)cAg>cTg	p.Q150L	EDN3_ENST00000311585.7_Missense_Mutation_p.Q150L|EDN3_ENST00000371028.2_Missense_Mutation_p.Q150L|EDN3_ENST00000371025.3_Missense_Mutation_p.Q150L|EDN3_ENST00000395654.3_Missense_Mutation_p.Q150L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	150					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.Q150L(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)					GGGAATCTGCAGCTCTCACAT	0.577																																						uc002yap.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(448-450)CAG>CTG		endothelin 3 isoform 1 preproprotein							114.0	102.0	106.0					20																	57896155		2203	4300	6503	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.chr20:57896155A>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.449A>T	20.37:g.57896155A>T	ENSP00000337128:p.Gln150Leu					EDN3_uc002yao.1_Missense_Mutation_p.Q150L|EDN3_uc002yaq.2_Missense_Mutation_p.Q150L|EDN3_uc002yar.2_Missense_Mutation_p.Q150L|EDN3_uc002yas.2_Missense_Mutation_p.Q150L	p.Q150L	NM_000114	NP_000105	P14138	EDN3_HUMAN			3	818	+	all_lung(29;0.0115)		150					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.449A>T	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630342	0.28978	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	4.87	-3.21	0.05140	.	0.831157	0.10552	N	0.661286	T	0.77592	0.4153	L	0.49126	1.545	0.09310	N	1	B;P;B;B	0.37914	0.332;0.611;0.242;0.242	B;B;B;B	0.31946	0.117;0.138;0.092;0.108	T	0.66846	-0.5820	10	0.52906	T	0.07	-9.6435	5.0365	0.14438	0.3887:0.2877:0.3236:0.0	.	150;150;150;150	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	L	150	ENSP00000337128:Q150L;ENSP00000311854:Q150L;ENSP00000360067:Q150L;ENSP00000360064:Q150L;ENSP00000379015:Q150L	ENSP00000311854:Q150L	Q	+	2	0	EDN3	57329550	0.019000	0.18553	0.006000	0.13384	0.004000	0.04260	0.206000	0.17375	-0.266000	0.09339	-0.429000	0.05907	CAG		PASS	0.577	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		11	37	11	37	---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62319501	62319501	+	Silent	SNP	G	G	A	rs114292675	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr20:62319501G>A	ENST00000360203.5	+	19	1930	c.1605G>A	c.(1603-1605)gaG>gaA	p.E535E	RTEL1_ENST00000370018.3_Silent_p.E535E|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.E535E|RTEL1_ENST00000370003.1_5'Flank|RTEL1_ENST00000508582.2_Silent_p.E559E|RTEL1_ENST00000318100.4_Silent_p.E535E					regulator of telomere elongation helicase 1									p.E535E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGTTTTCCGAGGAGTGCTTAT	0.657													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15359	0.0		0.0	False		,,,				2504	0.0					uc002yfu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1603-1605)GAG>GAA		regulator of telomere elongation helicase 1		G	,	19,4383	24.3+/-50.5	0,19,2182	41.0	45.0	44.0		1605,1677	-9.9	0.0	20	dbSNP_133	44	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	RTEL1	NM_016434.3,NM_032957.4	,	0,19,6479	AA,AG,GG		0.0,0.4316,0.1462	,	535/1220,559/1244	62319501	19,12977	2201	4297	6498	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62319501G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1605G>A	20.37:g.62319501G>A						RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.E535E|RTEL1_uc011abd.1_Silent_p.E559E|RTEL1_uc011abe.1_Silent_p.E312E|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'Flank	p.E535E	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		19	1948	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		535						Silent	SNP	ENST00000360203.5	37	c.1605G>A																																																																																					PASS	0.657	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		8	34	8	34	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43510517	43510517	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr21:43510517G>T	ENST00000408910.2	+	6	900	c.900G>T	c.(898-900)acG>acT	p.T300T	UMODL1_ENST00000400424.2_Silent_p.T228T|UMODL1_ENST00000400427.1_Silent_p.T228T|UMODL1_ENST00000408989.2_Silent_p.T300T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	300	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.T300T(1)|p.T228T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTCCAGCCACGTCTCCACGGA	0.552																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(898-900)ACG>ACT		uromodulin-like 1 isoform 1 precursor							92.0	96.0	95.0					21																	43510517		2090	4209	6299	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43510517G>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.900G>T	21.37:g.43510517G>T						UMODL1_uc002zad.1_Silent_p.T228T|UMODL1_uc002zae.1_Silent_p.T228T|UMODL1_uc002zag.1_Silent_p.T300T|UMODL1_uc010gow.1_Silent_p.T92T|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Intron	p.T300T	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			6	900	+			300			Extracellular (Potential).|EGF-like 1; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.900G>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.371442	0.42003	.	.	ENSG00000177398	ENST00000423139	.	.	.	3.8	-1.63	0.08345	.	.	.	.	.	T	0.31263	0.0791	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32481	-0.9905	4	.	.	.	0.2583	8.2091	0.31473	0.4828:0.0:0.5172:0.0	.	.	.	.	L	73	.	.	R	+	2	0	UMODL1	42383586	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-1.369000	0.02578	-0.520000	0.06435	-0.642000	0.03964	CGT		PASS	0.552	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			19	25	19	25	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47931501	47931501	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr21:47931501G>T	ENST00000417564.2	+	8	1097	c.1076G>T	c.(1075-1077)gGg>gTg	p.G359V	DIP2A_ENST00000457905.3_Missense_Mutation_p.G359V|DIP2A_ENST00000466639.1_Missense_Mutation_p.G316V|DIP2A_ENST00000427143.2_Missense_Mutation_p.G295V|DIP2A_ENST00000435722.3_Missense_Mutation_p.G359V|DIP2A_ENST00000318711.7_Missense_Mutation_p.G360V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G355V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	359					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.G360V(1)|p.G295V(1)|p.G359V(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATACAACTGGGAAAGCCGTC	0.537																																						uc002zjo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1075-1077)GGG>GTG		disco-interacting protein 2A isoform a							47.0	47.0	47.0					21																	47931501		1987	4173	6160	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931501G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1076G>T	21.37:g.47931501G>T	ENSP00000392066:p.Gly359Val					DIP2A_uc011afy.1_Missense_Mutation_p.G295V|DIP2A_uc011afz.1_Missense_Mutation_p.G355V|DIP2A_uc002zjl.2_Missense_Mutation_p.G359V|DIP2A_uc002zjm.2_Missense_Mutation_p.G359V|DIP2A_uc010gql.2_Missense_Mutation_p.G316V|DIP2A_uc002zjn.2_Missense_Mutation_p.G359V|DIP2A_uc002zjp.1_Missense_Mutation_p.G104V	p.G359V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1259	+	Breast(49;0.0933)		359					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1076G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334296	0.60853	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.992;0.999;1.0	D;D;D;D;D;D	0.97110	0.998;0.989;1.0;0.978;0.982;0.997	T	0.79172	-0.1913	10	0.87932	D	0	-26.3373	18.0406	0.89318	0.0:0.0:1.0:0.0	.	360;295;316;359;359;359	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	355;295;360;316;359;316;359;359	ENSP00000383133:G355V;ENSP00000400528:G295V;ENSP00000323633:G360V;ENSP00000393434:G359V;ENSP00000430249:G316V;ENSP00000415089:G359V;ENSP00000392066:G359V	ENSP00000323633:G360V	G	+	2	0	DIP2A	46755929	1.000000	0.71417	0.981000	0.43875	0.024000	0.10985	9.689000	0.98673	2.505000	0.84491	0.563000	0.77884	GGG		PASS	0.537	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		5	20	5	20	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17073266	17073266	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:17073266A>G	ENST00000359963.3	-	1	434	c.175T>C	c.(175-177)Ttc>Ctc	p.F59L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	59					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.F59L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCACCAGGAACTTCTGCCGG	0.642																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)TTC>CTC		T-complex protein 1							68.0	67.0	67.0					22																	17073266		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073266A>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.175T>C	22.37:g.17073266A>G	ENSP00000353048:p.Phe59Leu						p.F59L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	435	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	59					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.175T>C	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	6.408	0.443406	0.12164	.	.	ENSG00000198445	ENST00000359963	T	0.76448	-1.02	2.0	-3.19	0.05171	.	0.953272	0.08496	N	0.937134	T	0.43433	0.1247	N	0.00729	-1.24	0.27119	N	0.962195	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.51188	T	0.08	-1.1597	6.2744	0.20973	0.6821:0.0:0.3179:0.0	.	59	Q96SF2	TCPQM_HUMAN	L	59	ENSP00000353048:F59L	ENSP00000353048:F59L	F	-	1	0	CCT8L2	15453266	0.911000	0.30947	0.652000	0.29579	0.463000	0.32649	-0.026000	0.12392	-0.678000	0.05224	-0.562000	0.04174	TTC		PASS	0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			6	31	6	31	---	---	---	---
CRYBB2	1415	broad.mit.edu	37	22	25627687	25627687	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:25627687G>T	ENST00000398215.2	+	6	737	c.566G>T	c.(565-567)cGt>cTt	p.R189L		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	189	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)	p.R189L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						TCCGTGCGCCGTATCCGCGAC	0.652																																						uc003abp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)CGT>CTT		crystallin, beta B2							110.0	88.0	96.0					22																	25627687		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627687G>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.566G>T	22.37:g.25627687G>T	ENSP00000381273:p.Arg189Leu						p.R189L	NM_000496	NP_000487	P43320	CRBB2_HUMAN			6	614	+			189			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.566G>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	17.01	3.279556	0.59758	.	.	ENSG00000244752	ENST00000398215	T	0.78364	-1.17	3.98	3.98	0.46160	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.86285	0.5896	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88313	0.2957	10	0.87932	D	0	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	189	P43320	CRBB2_HUMAN	L	189	ENSP00000381273:R189L	ENSP00000381273:R189L	R	+	2	0	CRYBB2	23957687	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	7.547000	0.82146	1.763000	0.52060	0.462000	0.41574	CGT		PASS	0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		19	53	19	53	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26231332	26231332	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:26231332C>A	ENST00000407587.2	+	17	3302	c.3133C>A	c.(3133-3135)Cat>Aat	p.H1045N	MYO18B_ENST00000536101.1_Missense_Mutation_p.H1044N|MYO18B_ENST00000335473.7_Missense_Mutation_p.H1044N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1044	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H1045N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAAGTCCATGTAGAGGG	0.582																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(3130-3132)CAT>AAT		myosin XVIIIB							68.0	72.0	70.0					22																	26231332		1960	4163	6123	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26231332C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3133C>A	22.37:g.26231332C>A	ENSP00000386096:p.His1045Asn					MYO18B_uc003aca.1_Missense_Mutation_p.H925N|MYO18B_uc010guy.1_Missense_Mutation_p.H926N|MYO18B_uc010guz.1_Missense_Mutation_p.H925N|MYO18B_uc011aka.1_Missense_Mutation_p.H198N|MYO18B_uc011akb.1_Missense_Mutation_p.H557N	p.H1044N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			17	3380	+			1044			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3130C>A		.	.	.	.	.	.	.	.	.	.	C	4.661	0.122923	0.08931	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71222	-0.55;-0.55;-0.55	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.170035	0.39083	N	0.001478	T	0.43700	0.1259	N	0.02158	-0.66	0.19775	N	0.999957	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.41034	-0.9531	10	0.66056	D	0.02	.	10.2646	0.43447	0.0:0.9097:0.0:0.0903	.	557;1044;1045;1044	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1044;1044;1045	ENSP00000441229:H1044N;ENSP00000334563:H1044N;ENSP00000386096:H1045N	ENSP00000334563:H1044N	H	+	1	0	MYO18B	24561332	0.989000	0.36119	1.000000	0.80357	0.060000	0.15804	1.415000	0.34748	2.495000	0.84180	0.643000	0.83706	CAT		PASS	0.582	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		7	38	7	38	---	---	---	---
KREMEN1	83999	broad.mit.edu	37	22	29534767	29534767	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:29534767C>G	ENST00000407188.1	+	7	1114	c.1114C>G	c.(1114-1116)Cca>Gca	p.P372A	KREMEN1_ENST00000400335.4_Missense_Mutation_p.P374A|KREMEN1_ENST00000400338.2_Missense_Mutation_p.P374A|KREMEN1_ENST00000327813.5_Missense_Mutation_p.P374A			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	372					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P374A(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TCAGACTGTCCCAGGTAGCAA	0.572																																						uc011akm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(1120-1122)CCA>GCA		kringle-containing transmembrane protein 1							57.0	66.0	63.0					22																	29534767		1976	4151	6127	SO:0001583	missense	83999				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29534767C>G	AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1114C>G	22.37:g.29534767C>G	ENSP00000385431:p.Pro372Ala					KREMEN1_uc003ael.2_Missense_Mutation_p.P374A|KREMEN1_uc011akn.1_Missense_Mutation_p.P257A	p.P374A	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN			7	1133	+			372			Extracellular (Potential).		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.1120C>G	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725574	0.89298	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.61627	0.17;0.09;0.09;0.09	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000009	T	0.66607	0.2806	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.996	T	0.67221	-0.5725	10	0.51188	T	0.08	.	16.9529	0.86250	0.0:1.0:0.0:0.0	.	372;374;374	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	A	374;374;374;372	ENSP00000383189:P374A;ENSP00000383192:P374A;ENSP00000331242:P374A;ENSP00000385431:P372A	ENSP00000331242:P374A	P	+	1	0	KREMEN1	27864767	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.684000	0.61686	2.689000	0.91719	0.655000	0.94253	CCA		PASS	0.572	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			5	35	5	35	---	---	---	---
FBXO7	25793	broad.mit.edu	37	22	32889094	32889094	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:32889094C>G	ENST00000266087.7	+	7	1297	c.970C>G	c.(970-972)Ctg>Gtg	p.L324V	FBXO7_ENST00000382058.3_Missense_Mutation_p.L245V|FBXO7_ENST00000397426.1_Missense_Mutation_p.L210V	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	324	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L324V(2)|p.L245V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTTTAGCACTGAACCTACC	0.423																																						uc003amq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(970-972)CTG>GTG		F-box only protein 7 isoform 1							278.0	238.0	252.0					22																	32889094		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889094C>G	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.970C>G	22.37:g.32889094C>G	ENSP00000266087:p.Leu324Val					FBXO7_uc003amr.2_Missense_Mutation_p.L210V|FBXO7_uc003ams.2_Missense_Mutation_p.L168V|FBXO7_uc003amt.2_Missense_Mutation_p.L245V|FBXO7_uc003amu.2_Missense_Mutation_p.L210V|FBXO7_uc003amv.2_Missense_Mutation_p.L23V	p.L324V	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN			7	1253	+			324					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.970C>G	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331164	0.60853	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.75477	-0.94;-0.38;-0.36	6.08	4.88	0.63580	F-box domain, Skp2-like (1);	0.133751	0.53938	D	0.000058	D	0.83982	0.5372	M	0.82323	2.585	0.47374	D	0.999405	D;D;D	0.69078	0.972;0.997;0.972	P;P;P	0.61874	0.794;0.895;0.794	T	0.81814	-0.0760	10	0.28530	T	0.3	-13.744	13.4343	0.61076	0.0:0.867:0.0:0.133	.	324;245;324	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	V	324;245;210	ENSP00000266087:L324V;ENSP00000371490:L245V;ENSP00000380571:L210V	ENSP00000266087:L324V	L	+	1	2	FBXO7	31219094	0.229000	0.23729	0.981000	0.43875	0.797000	0.45037	0.576000	0.23744	2.894000	0.99253	0.655000	0.94253	CTG		PASS	0.423	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			23	42	23	42	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33712090	33712090	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:33712090C>T	ENST00000354992.2	-	12	2003	c.1432G>A	c.(1432-1434)Gct>Act	p.A478T	LARGE_ENST00000397394.2_Missense_Mutation_p.A478T|LARGE_ENST00000402320.1_Missense_Mutation_p.A426T|LARGE_ENST00000452586.2_Missense_Mutation_p.A277T|LARGE_ENST00000437602.2_Missense_Mutation_p.A478T|LARGE_ENST00000337431.2_Missense_Mutation_p.A426T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	478					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A478T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GACAGCTGAGCGACCAGGGTG	0.602																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1432-1434)GCT>ACT		like-glycosyltransferase							122.0	89.0	100.0					22																	33712090		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33712090C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1432G>A	22.37:g.33712090C>T	ENSP00000347088:p.Ala478Thr					LARGE_uc011amd.1_Missense_Mutation_p.A277T|LARGE_uc003ane.3_Missense_Mutation_p.A478T|LARGE_uc010gwp.2_Missense_Mutation_p.A426T|LARGE_uc011ame.1_Missense_Mutation_p.A410T|LARGE_uc011amf.1_Missense_Mutation_p.A478T|LARGE_uc010gwq.1_RNA	p.A478T	NM_004737	NP_004728	O95461	LARGE_HUMAN			12	2011	-		Lung NSC(1;0.219)	478			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1432G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282939	0.40394	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.36878	1.71;1.8;1.71;1.8;1.23;2.39	5.26	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	N	0.11023	0.085	0.80722	D	1	P;B;B;P	0.50617	0.937;0.052;0.252;0.559	B;B;B;B	0.42771	0.397;0.011;0.053;0.089	T	0.06552	-1.0820	10	0.02654	T	1	-3.4056	15.1709	0.72872	0.1423:0.8577:0.0:0.0	.	478;277;426;478	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	T	155;155;155;478;426;478;426;277;478	ENSP00000347088:A478T;ENSP00000336636:A426T;ENSP00000380549:A478T;ENSP00000385223:A426T;ENSP00000407917:A277T;ENSP00000388544:A478T	ENSP00000336636:A426T	A	-	1	0	LARGE	32042090	1.000000	0.71417	0.832000	0.32986	0.941000	0.58515	7.292000	0.78731	1.197000	0.43143	-0.181000	0.13052	GCT		PASS	0.602	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		4	17	4	17	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34046621	34046621	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:34046621G>A	ENST00000354992.2	-	4	711	c.140C>T	c.(139-141)tCc>tTc	p.S47F	LARGE_ENST00000397394.2_Missense_Mutation_p.S47F|LARGE_ENST00000402320.1_Missense_Mutation_p.S47F|LARGE_ENST00000437602.2_Missense_Mutation_p.S47F|LARGE_ENST00000337431.2_Missense_Mutation_p.S47F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	47					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.S47F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GTGTGCCTGGGACTCCAGCGG	0.647																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(139-141)TCC>TTC		like-glycosyltransferase							29.0	29.0	29.0					22																	34046621		2198	4291	6489	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046621G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.140C>T	22.37:g.34046621G>A	ENSP00000347088:p.Ser47Phe					LARGE_uc003ane.3_Missense_Mutation_p.S47F|LARGE_uc010gwp.2_Missense_Mutation_p.S47F|LARGE_uc011ame.1_5'UTR|LARGE_uc011amf.1_Missense_Mutation_p.S47F	p.S47F	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	719	-		Lung NSC(1;0.219)	47			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.140C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544580	0.65198	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.55234	1.02;1.02;1.02;1.02;0.53;1.4;1.4;1.38	5.84	5.84	0.93424	.	0.314687	0.35040	N	0.003493	T	0.40297	0.1111	N	0.14661	0.345	0.80722	D	1	B;B;B	0.33919	0.068;0.432;0.306	B;B;B	0.30646	0.025;0.118;0.034	T	0.38628	-0.9652	10	0.59425	D	0.04	4.7428	20.1533	0.98095	0.0:0.0:1.0:0.0	.	47;47;47	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	F	47	ENSP00000347088:S47F;ENSP00000336636:S47F;ENSP00000380549:S47F;ENSP00000385223:S47F;ENSP00000388544:S47F;ENSP00000396277:S47F;ENSP00000415546:S47F;ENSP00000389605:S47F	ENSP00000336636:S47F	S	-	2	0	LARGE	32376621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.670000	0.74467	2.758000	0.94735	0.655000	0.94253	TCC		PASS	0.647	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		5	19	5	19	---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39884066	39884066	+	Nonsense_Mutation	SNP	C	C	A	rs5995740		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:39884066C>A	ENST00000341184.6	+	2	929	c.714C>A	c.(712-714)tgC>tgA	p.C238*		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	238					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.C238*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TTGTGGTGTGCGAGTCCAACT	0.617																																						uc003axv.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(712-714)TGC>TGA		mannosyl (beta-1,4-)-glycoprotein							57.0	44.0	48.0					22																	39884066		2203	4300	6503	SO:0001587	stop_gained	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884066C>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.714C>A	22.37:g.39884066C>A	ENSP00000345270:p.Cys238*					MGAT3_uc010gxy.2_Nonsense_Mutation_p.C238*	p.C238*	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	953	+	Melanoma(58;0.04)		238			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Nonsense_Mutation	SNP	ENST00000341184.6	37	c.714C>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819114	0.90873	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0956	0.59190	0.0:0.7261:0.0:0.2739	.	.	.	.	X	238	.	ENSP00000345270:C238X	C	+	3	2	MGAT3	38214012	0.200000	0.23398	1.000000	0.80357	0.826000	0.46750	-0.341000	0.07811	0.273000	0.22049	-1.134000	0.01955	TGC		PASS	0.617	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		6	13	6	13	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44068001	44068001	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:44068001C>T	ENST00000262726.7	-	15	1745	c.1492G>A	c.(1492-1494)Gtt>Att	p.V498I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V346I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.V498I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTATCATGAACAATTTCTTCC	0.373																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1492-1494)GTT>ATT		CAP-binding protein complex interacting protein							74.0	68.0	70.0					22																	44068001		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44068001C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1492G>A	22.37:g.44068001C>T	ENSP00000262726:p.Val498Ile					EFCAB6_uc003bdz.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzi.1_Missense_Mutation_p.V346I|EFCAB6_uc010gzk.1_RNA	p.V498I	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			15	1707	-		Ovarian(80;0.0247)|all_neural(38;0.025)	498					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1492G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997595	0.19043	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.52754	0.65;0.65	5.17	0.512	0.16994	.	0.270422	0.28718	N	0.014366	T	0.27765	0.0683	L	0.40543	1.245	0.18873	N	0.999984	B	0.14012	0.009	B	0.13407	0.009	T	0.16364	-1.0405	10	0.07813	T	0.8	-17.1505	4.2162	0.10535	0.0:0.5256:0.1849:0.2895	.	498	Q5THR3	EFCB6_HUMAN	I	346;498	ENSP00000379533:V346I;ENSP00000262726:V498I	ENSP00000262726:V498I	V	-	1	0	EFCAB6	42399334	0.006000	0.16342	0.002000	0.10522	0.008000	0.06430	0.360000	0.20250	0.353000	0.24079	0.650000	0.86243	GTT		PASS	0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	29	13	29	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45779397	45779397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:45779397C>A	ENST00000357450.4	-	12	2007	c.2008G>T	c.(2008-2010)Gag>Tag	p.E670*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.E670*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	670					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E670*(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTTTAACTCTTTCTCATCC	0.353																																						uc003bgc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(2008-2010)GAG>TAG		SMC1 structural maintenance of chromosomes							181.0	166.0	171.0					22																	45779397		1825	4079	5904	SO:0001587	stop_gained	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45779397C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2008G>T	22.37:g.45779397C>A	ENSP00000350036:p.Glu670*					SMC1B_uc003bgd.2_Nonsense_Mutation_p.E670*|SMC1B_uc003bge.1_Nonsense_Mutation_p.E453*	p.E670*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	12	2060	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	670			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Nonsense_Mutation	SNP	ENST00000357450.4	37	c.2008G>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	39	7.887663	0.98545	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	6.08	6.08	0.98989	.	0.104715	0.41396	D	0.000893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	670	.	ENSP00000350036:E670X	E	-	1	0	SMC1B	44158061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.482000	0.60257	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.353	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	55	5	55	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46793652	46793652	+	Missense_Mutation	SNP	C	C	A	rs141922879		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:46793652C>A	ENST00000262738.3	-	12	5619	c.5620G>T	c.(5620-5622)Gac>Tac	p.D1874Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1874	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D1874Y(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGGGGTCGTCCACATCA	0.642																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5620-5622)GAC>TAC		cadherin EGF LAG seven-pass G-type receptor 1							116.0	73.0	87.0					22																	46793652		2202	4299	6501	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46793652C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5620G>T	22.37:g.46793652C>A	ENSP00000262738:p.Asp1874Tyr					CELSR1_uc011arc.1_Missense_Mutation_p.D195Y	p.D1874Y	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	12	5620	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1874			Extracellular (Potential).|EGF-like 5; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5620G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551525	0.45487	.	.	ENSG00000075275	ENST00000262738	T	0.34275	1.37	4.16	-0.444	0.12245	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.231768	0.34002	U	0.004352	T	0.61813	0.2377	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.74674	0.984;0.818	T	0.63484	-0.6627	10	0.72032	D	0.01	.	7.6198	0.28179	0.0:0.3487:0.0:0.6513	.	195;1874	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Y	1874	ENSP00000262738:D1874Y	ENSP00000262738:D1874Y	D	-	1	0	CELSR1	45172316	0.475000	0.25894	0.131000	0.22000	0.463000	0.32649	0.929000	0.28844	0.039000	0.15632	0.491000	0.48974	GAC		PASS	0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		5	7	5	7	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47095313	47095313	+	Silent	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr22:47095313G>T	ENST00000216264.8	-	8	952	c.840C>A	c.(838-840)ctC>ctA	p.L280L	CERK_ENST00000541677.1_Silent_p.L82L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	280					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.L280L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTAGCGAAGGAGTGTGCTGT	0.607																																						uc003bia.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(838-840)CTC>CTA		ceramide kinase							235.0	170.0	192.0					22																	47095313		2203	4300	6503	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47095313G>T	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.840C>A	22.37:g.47095313G>T						CERK_uc010hae.2_Silent_p.L82L	p.L280L	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	8	947	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	280					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.840C>A	CCDS14077.1																																																																																				PASS	0.607	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		5	53	5	53	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30261064	30261064	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:30261064T>C	ENST00000378982.2	+	1	1008	c.812T>C	c.(811-813)cTg>cCg	p.L271P	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	271	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L271P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TATCAATTCCTGTGGGGTCCA	0.493																																						uc004dcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(811-813)CTG>CCG		melanoma antigen family B, 4							69.0	67.0	68.0					X																	30261064		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261064T>C		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.812T>C	X.37:g.30261064T>C	ENSP00000368266:p.Leu271Pro					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.L271P	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	896	+			271			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.812T>C	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555967	0.45487	.	.	ENSG00000120289	ENST00000378982	T	0.06068	3.35	3.22	3.22	0.36961	.	0.292406	0.26991	U	0.021465	T	0.33614	0.0869	H	0.97340	3.985	0.48696	D	0.999695	D	0.89917	1.0	D	0.97110	1.0	T	0.29518	-1.0009	10	0.62326	D	0.03	.	7.2136	0.25947	0.0:0.0:0.0:1.0	.	271	O15481	MAGB4_HUMAN	P	271	ENSP00000368266:L271P	ENSP00000368266:L271P	L	+	2	0	MAGEB4	30170985	1.000000	0.71417	0.735000	0.30896	0.055000	0.15305	1.238000	0.32707	1.512000	0.48834	0.486000	0.48141	CTG		PASS	0.493	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		24	24	24	24	---	---	---	---
GK	2710	broad.mit.edu	37	X	30719001	30719001	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:30719001A>G	ENST00000378943.3	+	10	991	c.812A>G	c.(811-813)cAg>cGg	p.Q271R	GK_ENST00000378945.3_Missense_Mutation_p.Q271R|GK_ENST00000378946.3_Missense_Mutation_p.Q277R|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.Q72R|RP11-242C19.2_ENST00000497961.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	277					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.Q271R(1)		central_nervous_system(1)|large_intestine(3)	4						ATGTGCTTCCAGATTGGACAA	0.348																																						uc004dch.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(829-831)CAG>CGG		glycerol kinase isoform a							87.0	81.0	83.0					X																	30719001		2202	4300	6502	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30719001A>G	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.812A>G	X.37:g.30719001A>G	ENSP00000368226:p.Gln271Arg					GK_uc010ngj.2_Missense_Mutation_p.Q271R|GK_uc004dci.3_Missense_Mutation_p.Q271R|GK_uc011mjz.1_Missense_Mutation_p.Q72R|GK_uc011mka.1_Missense_Mutation_p.Q114R|GK_uc010ngk.2_Missense_Mutation_p.Q66R	p.Q277R	NM_203391	NP_976325	P32189	GLPK_HUMAN			11	1009	+			277					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.830A>G	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866304	0.32977	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.55	3.07	0.35406	.	0.291406	0.38605	N	0.001632	T	0.77519	0.4142	N	0.16037	0.36	0.34083	D	0.659768	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.002;0.001	T	0.72007	-0.4420	10	0.59425	D	0.04	.	7.1026	0.25346	0.7944:0.0:0.0729:0.1327	.	114;277;271;271;277	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	R	277;271;277;271;72;114	ENSP00000368229:Q277R;ENSP00000368226:Q271R;ENSP00000368228:Q271R;ENSP00000401720:Q72R	ENSP00000368226:Q271R	Q	+	2	0	GK	30628922	1.000000	0.71417	0.947000	0.38551	0.778000	0.44026	3.457000	0.53007	0.218000	0.20820	-0.415000	0.06103	CAG		PASS	0.348	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		10	7	10	7	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31089888	31089888	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:31089888G>T	ENST00000359202.3	-	1	282	c.183C>A	c.(181-183)gaC>gaA	p.D61E		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	61	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.D61E(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCATTTTGTCGTCCGACAGGC	0.577																																						uc004dcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(181-183)GAC>GAA		ferritin, heavy polypeptide-like 17							81.0	72.0	75.0					X																	31089888		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089888G>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.183C>A	X.37:g.31089888G>T	ENSP00000368207:p.Asp61Glu						p.D61E	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	286	-			61			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.183C>A	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	G	4.880	0.163515	0.09287	.	.	ENSG00000132446	ENST00000359202	T	0.62788	0.0	3.44	-5.22	0.02806	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	2.063350	0.02443	N	0.084826	T	0.37972	0.1023	N	0.12569	0.235	0.09310	N	1	B	0.22604	0.072	B	0.34038	0.174	T	0.37337	-0.9710	10	0.06625	T	0.88	.	2.0998	0.03677	0.4721:0.2476:0.1589:0.1214	.	61	Q9BXU8	FHL17_HUMAN	E	61	ENSP00000368207:D61E	ENSP00000368207:D61E	D	-	3	2	FTHL17	30999809	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.684000	0.00835	-1.701000	0.01413	-0.498000	0.04607	GAC		PASS	0.577	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		9	13	9	13	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37663381	37663381	+	Silent	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:37663381T>G	ENST00000378588.4	+	9	1216	c.1149T>G	c.(1147-1149)ccT>ccG	p.P383P	CYBB_ENST00000536160.1_Silent_p.P116P|CYBB_ENST00000545017.1_Silent_p.P351P|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	383	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.P383P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAAACTACCTAAGTGAGTAA	0.418																																						uc004ddr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1147-1149)CCT>CCG		cytochrome b-245 beta polypeptide							59.0	55.0	57.0					X																	37663381		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37663381T>G	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1149T>G	X.37:g.37663381T>G						CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.P351P|CYBB_uc011mkg.1_Silent_p.P116P	p.P383P	NM_000397	NP_000388	P04839	CY24B_HUMAN			9	1210	+			383			Cytoplasmic (Potential).|FAD-binding FR-type.		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1149T>G	CCDS14242.1																																																																																				PASS	0.418	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			13	12	13	12	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41026799	41026799	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:41026799C>T	ENST00000324545.8	+	17	3026	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	USP9X_ENST00000378308.2_Missense_Mutation_p.T798M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	798					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.T791M(1)|p.T798M(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGATATACACGAACCTTGGT	0.373																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(2392-2394)ACG>ATG		ubiquitin specific protease 9, X-linked isoform							80.0	68.0	72.0					X																	41026799		1901	4152	6053	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41026799C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2393C>T	X.37:g.41026799C>T	ENSP00000316357:p.Thr798Met					USP9X_uc004dfc.2_Missense_Mutation_p.T798M	p.T798M	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			17	3026	+			798					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2393C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759580	0.89932	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.4	5.4	0.78164	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.82313	-0.0519	10	0.37606	T	0.19	.	18.5164	0.90937	0.0:1.0:0.0:0.0	.	798;798	Q93008-1;Q93008	.;USP9X_HUMAN	M	798	ENSP00000367558:T798M;ENSP00000316357:T798M	ENSP00000316357:T798M	T	+	2	0	USP9X	40911743	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.484000	0.81180	2.401000	0.81631	0.509000	0.49947	ACG		PASS	0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		12	9	12	9	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65474970	65474970	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:65474970T>G	ENST00000343002.2	+	15	3321	c.2657T>G	c.(2656-2658)gTg>gGg	p.V886G	HEPH_ENST00000519389.1_Missense_Mutation_p.V940G|HEPH_ENST00000336279.5_Missense_Mutation_p.V619G|HEPH_ENST00000374727.3_Missense_Mutation_p.V889G|HEPH_ENST00000419594.1_Missense_Mutation_p.V697G|HEPH_ENST00000441993.2_Missense_Mutation_p.V889G			Q9BQS7	HEPH_HUMAN	hephaestin	886	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.V886G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TATTCTGCAGTGGATCCCATC	0.478																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2665-2667)GTG>GGG		hephaestin isoform a							118.0	101.0	107.0					X																	65474970		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65474970T>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2657T>G	X.37:g.65474970T>G	ENSP00000343939:p.Val886Gly					HEPH_uc004dwn.2_Missense_Mutation_p.V889G|HEPH_uc004dwo.2_Missense_Mutation_p.V619G|HEPH_uc010nkr.2_Missense_Mutation_p.V697G|HEPH_uc011mpa.1_Missense_Mutation_p.V889G|HEPH_uc010nks.2_Missense_Mutation_p.V178G	p.V889G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			16	2726	+			886			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2666T>G		.	.	.	.	.	.	.	.	.	.	T	17.32	3.360262	0.61403	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.54	4.54	0.55810	Cupredoxin (2);	0.141767	0.48767	D	0.000180	D	0.98460	0.9487	M	0.79011	2.435	0.54753	D	0.999987	D;D;D;D	0.89917	0.998;0.999;1.0;0.996	D;D;D;P	0.74023	0.964;0.981;0.982;0.885	D	0.98826	1.0749	10	0.66056	D	0.02	.	7.638	0.28277	0.1916:0.0:0.0:0.8084	.	940;286;697;886	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	G	940;889;619;889;697;886	ENSP00000430620:V940G;ENSP00000363859:V889G;ENSP00000337418:V619G;ENSP00000411687:V889G;ENSP00000413211:V697G;ENSP00000343939:V886G	ENSP00000337418:V619G	V	+	2	0	HEPH	65391695	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.711000	0.54868	1.671000	0.50874	0.486000	0.48141	GTG		PASS	0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		8	3	8	3	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73046973	73046973	+	lincRNA	SNP	T	T	C			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:73046973T>C	ENST00000604411.1	+	0	34934				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTACTTGAGTTCTGGGTTTTA	0.493																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							195.0	178.0	183.0					X																	73046973		876	1991	2867			9383							g.chrX:73046973T>C			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.73046973T>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.34934T>C																																																																																					PASS	0.493	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		33	44	33	44	---	---	---	---
SH3BGRL	6451	broad.mit.edu	37	X	80532630	80532630	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:80532630C>A	ENST00000373212.5	+	2	451	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	65					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.L65M(1)		endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				AGGTTACCCCCTGCCACCTCA	0.378																																						uc004eef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(193-195)CTG>ATG		SH3 domain binding glutamic acid-rich protein							59.0	55.0	57.0					X																	80532630		2203	4300	6503	SO:0001583	missense	6451					cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:80532630C>A	AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.193C>A	X.37:g.80532630C>A	ENSP00000362308:p.Leu65Met					SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Missense_Mutation_p.L102M|SH3BGRL_uc010nmn.2_Missense_Mutation_p.L102M	p.L65M	NM_003022	NP_003013	O75368	SH3L1_HUMAN			2	590	+		all_lung(315;5.94e-05)	65			SH3-binding (Potential).		Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Missense_Mutation	SNP	ENST00000373212.5	37	c.193C>A	CCDS14449.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139475	0.37728	.	.	ENSG00000131171	ENST00000373212	T	0.77750	-1.12	5.7	0.567	0.17325	Thioredoxin-like fold (2);	0.069891	0.56097	D	0.000022	D	0.86928	0.6051	M	0.87547	2.89	0.46203	D	0.998921	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.972;0.996;0.99	D	0.84531	0.0633	10	0.87932	D	0	-3.3786	9.1978	0.37240	0.0:0.5913:0.0:0.4087	.	17;64;65	B0AZV6;D3DTE6;O75368	.;.;SH3L1_HUMAN	M	65	ENSP00000362308:L65M	ENSP00000362308:L65M	L	+	1	2	SH3BGRL	80419286	0.690000	0.27699	0.357000	0.25798	0.267000	0.26476	1.286000	0.33273	-0.358000	0.08162	-0.191000	0.12829	CTG		PASS	0.378	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057350.1	NM_003022		6	7	6	7	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873599	91873599	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:91873599C>A	ENST00000373094.1	+	7	4549	c.3704C>A	c.(3703-3705)cCa>cAa	p.P1235Q	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1217Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1227Q|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1198Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1198Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1225Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1235					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.P1235Q(1)		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						CACCACAGCCCACCATCAGCA	0.582																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3703-3705)CCA>CAA		protocadherin 11 X-linked isoform c							161.0	137.0	145.0					X																	91873599		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873599C>A	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.3704C>A	X.37:g.91873599C>A	ENSP00000362186:p.Pro1235Gln					PCDH11X_uc004efl.1_Missense_Mutation_p.P1225Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1198Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1227Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1217Q	p.P1235Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4549	+			1235			Cytoplasmic (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.3704C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.009844	0.19277	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52526	0.68;0.7;0.67;0.66;0.69;0.67	3.67	3.67	0.42095	.	.	.	.	.	T	0.34803	0.0910	L	0.27053	0.805	0.09310	N	1	P;P;P;P;P	0.40107	0.703;0.703;0.703;0.703;0.578	B;B;B;B;B	0.39531	0.302;0.302;0.302;0.302;0.159	T	0.21280	-1.0250	9	0.87932	D	0	.	7.8089	0.29219	0.2478:0.7522:0.0:0.0	.	1198;1217;1227;1225;1235	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Q	1235;1225;1198;1217;1227;1235;1198	ENSP00000362186:P1235Q;ENSP00000362189:P1225Q;ENSP00000362180:P1198Q;ENSP00000355105:P1217Q;ENSP00000384758:P1227Q;ENSP00000298274:P1198Q	ENSP00000298274:P1198Q	P	+	2	0	PCDH11X	91760255	0.001000	0.12720	0.024000	0.17045	0.860000	0.49131	0.828000	0.27435	1.822000	0.53115	0.466000	0.42574	CCA		PASS	0.582	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		31	29	31	29	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101911570	101911570	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:101911570G>T	ENST00000361600.5	+	5	3530	c.2729G>T	c.(2728-2730)tGg>tTg	p.W910L	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W910L|GPRASP1_ENST00000537097.1_Missense_Mutation_p.W910L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W910L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	910	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.W910L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGGGTCCTGGTTCTGGGAT	0.483																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2728-2730)TGG>TTG		G protein-coupled receptor associated sorting							93.0	94.0	93.0					X																	101911570		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911570G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2729G>T	X.37:g.101911570G>T	ENSP00000355146:p.Trp910Leu					GPRASP1_uc004eji.3_Missense_Mutation_p.W910L|GPRASP1_uc010nod.2_Missense_Mutation_p.W910L	p.W910L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3530	+			910			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2729G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	9.757	1.169017	0.21621	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	2.43	0.34	0.15985	.	.	.	.	.	T	0.04497	0.0123	L	0.38175	1.15	0.09310	N	0.99999	B	0.10296	0.003	B	0.08055	0.003	T	0.45249	-0.9274	9	0.23302	T	0.38	-0.3489	2.9783	0.05945	0.1565:0.0:0.3852:0.4583	.	910	Q5JY77	GASP1_HUMAN	L	910	ENSP00000393691:W910L;ENSP00000409420:W910L;ENSP00000355146:W910L;ENSP00000445683:W910L	ENSP00000355146:W910L	W	+	2	0	GPRASP1	101798226	0.004000	0.15560	0.837000	0.33122	0.754000	0.42855	0.137000	0.15995	-0.014000	0.14175	0.292000	0.19580	TGG		PASS	0.483	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		5	57	5	57	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	111003210	111003210	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:111003210G>T	ENST00000394780.3	+	27	3409	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L	ALG13_ENST00000251943.4_Missense_Mutation_p.V950L|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1133					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.V950L(1)|p.V1133L(1)|p.V455L(1)		endometrium(2)|lung(10)|skin(1)	13						TTCTCATTATGTACCTCAGGG	0.388																																						uc011msy.1																			3	Substitution - Missense(3)		lung(3)	lung(1)	1						c.(3397-3399)GTA>TTA		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							72.0	57.0	62.0					X																	111003210		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111003210G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3397G>T	X.37:g.111003210G>T	ENSP00000378260:p.Val1133Leu					ALG13_uc011msx.1_Missense_Mutation_p.V950L|ALG13_uc011msz.1_Missense_Mutation_p.V1055L|ALG13_uc011mta.1_Missense_Mutation_p.V950L|ALG13_uc011mtb.1_Missense_Mutation_p.V950L	p.V1133L			Q9NP73	ALG13_HUMAN			27	3431	+			1133					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3397G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	3.335	-0.135863	0.06711	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.56941	1.39;0.43	5.28	-5.39	0.02664	.	1.184600	0.05913	N	0.632103	T	0.33933	0.0880	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.25984	-1.0116	10	0.48119	T	0.1	-1.0E-4	5.5763	0.17225	0.3364:0.0:0.3797:0.2839	.	1055;1133;950	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	950;1133;687	ENSP00000251943:V950L;ENSP00000378260:V1133L	ENSP00000251943:V950L	V	+	1	0	ALG13	110889866	0.028000	0.19301	0.124000	0.21820	0.205000	0.24178	-0.447000	0.06828	-1.106000	0.03008	-0.190000	0.12839	GTA		PASS	0.388	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		9	15	9	15	---	---	---	---
ENOX2	10495	broad.mit.edu	37	X	129759346	129759346	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:129759346C>A	ENST00000370927.1	-	13	1796	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V	ENOX2_ENST00000394363.1_Missense_Mutation_p.G563V|ENOX2_ENST00000338144.3_Missense_Mutation_p.G592V|ENOX2_ENST00000370935.1_Missense_Mutation_p.G563V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	592					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.G592V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGGCTGGCTCCAACTCCAGT	0.473																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1774-1776)GGA>GTA		ecto-NOX disulfide-thiol exchanger 2 isoform b							119.0	91.0	101.0					X																	129759346		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759346C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1775G>T	X.37:g.129759346C>A	ENSP00000359965:p.Gly592Val					ENOX2_uc004evx.2_Missense_Mutation_p.G563V|ENOX2_uc004evy.2_Missense_Mutation_p.G563V|ENOX2_uc004evv.2_Missense_Mutation_p.G417V	p.G592V	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			16	2193	-			592	G->V: Loss of activity.				A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1775G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915029	0.72983	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.78994	-0.1984	9	0.87932	D	0	-17.6418	12.5197	0.56052	0.0:1.0:0.0:0.0	.	592;620	Q16206;A4QPE1	ENOX2_HUMAN;.	V	563;592;563;620;592	.	ENSP00000337146:G592V	G	-	2	0	ENOX2	129587027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGA		PASS	0.473	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		12	17	12	17	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291581	141291581	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chrX:141291581C>G	ENST00000247452.3	-	3	540	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	65					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.G65R(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGGACCACCAAGAATC	0.532										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(193-195)GGT>CGT		melanoma antigen family C, 2							76.0	74.0	75.0					X																	141291581		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291581C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.193G>C	X.37:g.141291581C>G	ENSP00000354660:p.Gly65Arg	HNSCC(46;0.14)					p.G65R	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	541	-	Acute lymphoblastic leukemia(192;6.56e-05)		65					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.193G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.256	0.810118	0.16537	.	.	ENSG00000046774	ENST00000247452	T	0.02067	4.47	0.685	0.685	0.18009	.	.	.	.	.	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.65010	0.931	T	0.51317	-0.8721	8	0.15499	T	0.54	.	.	.	.	.	65	Q9UBF1	MAGC2_HUMAN	R	65	ENSP00000354660:G65R	ENSP00000354660:G65R	G	-	1	0	MAGEC2	141119247	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.985000	0.01485	0.581000	0.29539	0.411000	0.27672	GGT		PASS	0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		14	32	14	32	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249					uc010ocf.1																			0					0								Homo sapiens mRNA for FLJ00313 protein.																																						84809							g.chr1:16945182_16945184delAAT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945185_16945187delAAT						CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA								4		-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37	c.973_975delATT																																																																																						0.325	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	6	7	6	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150144801	150144802	+	5'Flank	INS	-	-	TC	rs201288575|rs113485593|rs397794520|rs34870722		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr7:150144801_150144802insTC	ENST00000307271.3	+	0	0				LINC00996_ENST00000477392.1_lincRNA	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8							cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		taacaaagatgtctgcagtgaa	0.322																																						uc003whi.1																			0													Homo sapiens cDNA FLJ39839 fis, clone SPLEN2014136.																																				SO:0001631	upstream_gene_variant	0							g.chr7:150144801_150144802insTC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327		7.37:g.150144802_150144803dupTC	Exception_encountered					uc010lps.1_RNA								4		+									RNA	INS	ENST00000307271.3	37	c.1616_1617insTC	CCDS34777.1																																																																																					0.322	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		3	3	3	3	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	74013462	74013462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:74013462delG	ENST00000331597.4	-	3	564	c.519delC	c.(517-519)cccfs	p.P173fs	P4HA3_ENST00000427714.2_Frame_Shift_Del_p.P173fs	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	173						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGAGCCGTTTGGGGCTGTACA	0.512																																						uc001ouz.2																			0				skin(1)	1						c.(517-519)CCCfs		prolyl 4-hydroxylase, alpha III subunit							117.0	120.0	119.0					11																	74013462		2200	4293	6493	SO:0001589	frameshift_variant	283208					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr11:74013462delG	AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.519delC	11.37:g.74013462delG	ENSP00000332170:p.Pro173fs					P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Frame_Shift_Del_p.P173fs	p.P173fs	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN			3	562	-	Breast(11;2.31e-05)		173					A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Frame_Shift_Del	DEL	ENST00000331597.4	37	c.519delC	CCDS8230.1																																																																																					0.512	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904		94	79	94	79	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114112921	114112921	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr11:114112921delG	ENST00000335953.4	+	5	1866	c.1486delG	c.(1486-1488)gggfs	p.G496fs	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Frame_Shift_Del_p.G496fs	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	496					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCTGCTGTGTGGGAAGCGCTT	0.607																																						uc001pop.2																			0				central_nervous_system(1)|skin(1)	2						c.(1486-1488)GGGfs		promyelocytic leukemia zinc finger protein							80.0	55.0	63.0					11																	114112921		2201	4296	6497	SO:0001589	frameshift_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114112921delG	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1486delG	11.37:g.114112921delG	ENSP00000338157:p.Gly496fs					ZBTB16_uc001poq.2_Frame_Shift_Del_p.G496fs	p.G496fs	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1750	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	496			C2H2-type 4.		Q8TAL4	Frame_Shift_Del	DEL	ENST00000335953.4	37	c.1486delG	CCDS8367.1																																																																																					0.607	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		22	28	22	28	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106236825	106236825	+	RNA	DEL	C	C	-	rs376241763	byFrequency	TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr14:106236825delC	ENST00000390551.2	-	0	382							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TACCTGGGCACCGTGGGCACG	0.637																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							124.0	149.0	141.0					14																	106236825		1965	4148	6113			8755							g.chr14:106236825delC	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236825delC						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA								3613		-								A2NU35	RNA	DEL	ENST00000390551.2	37	c.57523delG																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		85	40	85	40	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79056289	79056289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr15:79056289delC	ENST00000388820.4	-	21	4782	c.4572delG	c.(4570-4572)tggfs	p.W1524fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1524	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			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						AAGATGTGTACCAGCTGAGGC	0.706																																						uc002bej.3																			0					0						c.(4570-4572)TGGfs		ADAM metallopeptidase with thrombospondin type 1							14.0	13.0	13.0					15																	79056289		2137	4230	6367	SO:0001589	frameshift_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79056289delC	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.4572delG	15.37:g.79056289delC	ENSP00000373472:p.Trp1524fs						p.W1524fs	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			21	4783	-			1524			TSP type-1 7.		Q14F51|Q6P7J9	Frame_Shift_Del	DEL	ENST00000388820.4	37	c.4572delG	CCDS32303.1																																																																																					0.706	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	2	4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578458	7578458	+	Frame_Shift_Del	DEL	G	G	-	rs587780068		TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr17:7578458delG	ENST00000269305.4	-	5	661	c.472delC	c.(472-474)cgcfs	p.R158fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R158fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R158fs	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		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		98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	p.R158H(58)|p.R158L(53)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.V157_R158delVR(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.R158F(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(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	CM004341	TP53	M		c.(472-474)CGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	52.0	51.0					17																	7578458		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578458delG	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.472delC	17.37:g.7578458delG	ENSP00000269305:p.Arg158fs	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_Frame_Shift_Del_p.R158fs|TP53_uc002gih.2_Frame_Shift_Del_p.R158fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.R26fs|TP53_uc010cng.1_Frame_Shift_Del_p.R26fs|TP53_uc002gii.1_Frame_Shift_Del_p.R26fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R158fs|TP53_uc010cni.1_Frame_Shift_Del_p.R158fs|TP53_uc002gij.2_Frame_Shift_Del_p.R158fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.R65fs|TP53_uc002gio.2_Frame_Shift_Del_p.R26fs|TP53_uc010vug.1_Frame_Shift_Del_p.R119fs	p.R158fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	666	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.472delC	CCDS11118.1																																																																																					0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	15	13	15	---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49174065	49174066	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2787-01A-01D-0983-08	TCGA-66-2787-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c59e5971-e243-4b00-b5f0-f4bca18530d6	1cbdc2f1-d507-4fbd-a130-73b55c54e436	g.chr19:49174065_49174066insT	ENST00000270235.4	-	2	273_274	c.178_179insA	c.(178-180)accfs	p.T60fs	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	60						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GCCATTGCAGGTTTCCCTGGCG	0.649																																						uc002pkb.2																			0				large_intestine(1)|pancreas(1)	2						c.(178-180)ACCfs		netrin 5 precursor																																				SO:0001589	frameshift_variant	126147					extracellular region		g.chr19:49174065_49174066insT		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.179dupA	19.37:g.49174068_49174068dupT	ENSP00000270235:p.Thr60fs					SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Frame_Shift_Ins_p.T60fs	p.T60fs	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN			2	274_275	-			60					Q8N4X9|Q8WU63	Frame_Shift_Ins	INS	ENST00000270235.4	37	c.178_179insA	CCDS33068.1																																																																																					0.649	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		21	13	21	13	---	---	---	---
