#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	3334561	3334561	+	Splice_Site	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:3334561G>A	ENST00000270722.5	+	11	2910	c.2861G>A	c.(2860-2862)aGg>aAg	p.R954K	PRDM16_ENST00000378398.3_Splice_Site_p.R954K|PRDM16_ENST00000378391.2_Splice_Site_p.R954K|PRDM16_ENST00000442529.2_Splice_Site_p.R953K|PRDM16_ENST00000511072.1_Splice_Site_p.R955K|PRDM16_ENST00000514189.1_Splice_Site_p.R954K|PRDM16_ENST00000441472.2_Splice_Site_p.R953K|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	954	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				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.R953K(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)		TACACGTGCAGGTGAGGGGCC	0.652			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.(2860-2862)AGG>AAG		PR domain containing 16 isoform 1							20.0	22.0	21.0					1																	3334561		1969	4151	6120	SO:0001630	splice_region_variant	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.chr1:3334561G>A	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.2861+1G>A	1.37:g.3334561G>A						PRDM16_uc001akc.2_Missense_Mutation_p.R953K|PRDM16_uc001akd.2_Missense_Mutation_p.R953K|PRDM16_uc001ake.2_Missense_Mutation_p.R954K|PRDM16_uc009vlh.2_Missense_Mutation_p.R654K	p.R954K	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)	11	2941	+	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)	954			Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2861G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763753	0.49574	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.102520	0.40554	N	0.001066	T	0.51975	0.1706	L	0.48986	1.54	0.80722	D	1	P;B;B;B	0.35208	0.49;0.003;0.107;0.002	B;B;B;B	0.31442	0.083;0.009;0.13;0.004	T	0.54111	-0.8342	10	0.34782	T	0.22	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	954;954;953;953	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	955;954;953;953;954;954;954;770;770;762	ENSP00000426975:R955K;ENSP00000367651:R954K;ENSP00000407968:R953K;ENSP00000405253:R953K;ENSP00000367643:R954K;ENSP00000421400:R954K;ENSP00000270722:R954K;ENSP00000422504:R770K;ENSP00000425796:R762K	ENSP00000270722:R954K	R	+	2	0	PRDM16	3324421	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.315000	0.96313	2.309000	0.77851	0.563000	0.77884	AGG		PASS	0.652	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	Missense_Mutation	9	15	9	15	---	---	---	---
SLC25A33	84275	broad.mit.edu	37	1	9613784	9613784	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:9613784C>G	ENST00000302692.6	+	2	367	c.157C>G	c.(157-159)Cag>Gag	p.Q53E		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	53					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q53E(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CTACTATCCTCAGGTTCATCT	0.478																																						uc001apw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CAG>GAG		mitochondrial carrier protein MGC4399							98.0	93.0	94.0					1																	9613784		2203	4300	6503	SO:0001583	missense	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9613784C>G	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.157C>G	1.37:g.9613784C>G	ENSP00000306328:p.Gln53Glu					SLC25A33_uc001apx.2_5'UTR	p.Q53E	NM_032315	NP_115691	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	2	380	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	53			Helical; Name=2; (Potential).|Solcar 1.			Missense_Mutation	SNP	ENST00000302692.6	37	c.157C>G	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.459758	0.26248	.	.	ENSG00000171612	ENST00000302692	T	0.76060	-0.99	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	N	0.02973	-0.45	0.47374	D	0.999403	B	0.14012	0.009	B	0.17098	0.017	T	0.51903	-0.8646	10	0.02654	T	1	-19.9563	14.7382	0.69434	0.0:0.8558:0.1442:0.0	.	53	Q9BSK2	S2533_HUMAN	E	53	ENSP00000306328:Q53E	ENSP00000306328:Q53E	Q	+	1	0	SLC25A33	9536371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.593000	0.67550	2.771000	0.95319	0.644000	0.83932	CAG		PASS	0.478	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		17	38	17	38	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12409360	12409360	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:12409360G>A	ENST00000358136.3	+	46	9490	c.9360G>A	c.(9358-9360)gtG>gtA	p.V3120V	VPS13D_ENST00000356315.4_Silent_p.V3095V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V3120V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAATGTAGTGAAGACTGCAG	0.468																																						uc001atv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(9358-9360)GTG>GTA		vacuolar protein sorting 13D isoform 1							113.0	117.0	115.0					1																	12409360		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12409360G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9360G>A	1.37:g.12409360G>A						VPS13D_uc001atw.2_Silent_p.V3095V|VPS13D_uc001atx.2_Silent_p.V2307V	p.V3120V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	46	9501	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3119						Silent	SNP	ENST00000358136.3	37	c.9360G>A	CCDS30588.1																																																																																				PASS	0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		30	76	30	76	---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19652073	19652073	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:19652073C>A	ENST00000375153.3	+	4	1019	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	PQLC2_ENST00000375155.3_Missense_Mutation_p.L127M|PQLC2_ENST00000400548.2_Missense_Mutation_p.L62M	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	127					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)	p.L127M(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCCCTCTCTGTGTGAGTA	0.577																																						uc001bby.2																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)CTG>ATG		PQ loop repeat containing 2 isoform 1							80.0	66.0	71.0					1																	19652073		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19652073C>A	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.379C>A	1.37:g.19652073C>A	ENSP00000364295:p.Leu127Met					PQLC2_uc001bbz.2_Missense_Mutation_p.L62M|PQLC2_uc001bca.2_Missense_Mutation_p.L127M|PQLC2_uc001bcb.2_Missense_Mutation_p.L16M|PQLC2_uc001bcc.2_Missense_Mutation_p.L16M	p.L127M	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	731	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	127			Cytoplasmic (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.379C>A	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058725	0.36277	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548;ENST00000432465	T;T	0.44881	0.91;0.91	5.46	-0.4	0.12411	.	2.385740	0.01074	N	0.004866	T	0.27278	0.0669	N	0.14661	0.345	0.09310	N	1	B	0.24317	0.101	B	0.22880	0.042	T	0.20840	-1.0263	10	0.42905	T	0.14	-10.8464	5.9229	0.19093	0.1114:0.2606:0.5127:0.1154	.	127	Q6ZP29	PQLC2_HUMAN	M	127;127;62;32	ENSP00000364297:L127M;ENSP00000364295:L127M	ENSP00000364295:L127M	L	+	1	2	PQLC2	19524660	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-0.159000	0.10056	0.121000	0.18284	0.561000	0.74099	CTG		PASS	0.577	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		5	34	5	34	---	---	---	---
UBXN10	127733	broad.mit.edu	37	1	20517269	20517269	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:20517269A>G	ENST00000375099.3	+	2	299	c.215A>G	c.(214-216)tAt>tGt	p.Y72C		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	72								p.Y72C(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GCCATTCCCTATGAGTTGCCA	0.567																																						uc001bdb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(214-216)TAT>TGT		UBX domain protein 10							79.0	81.0	80.0					1																	20517269		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517269A>G	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.215A>G	1.37:g.20517269A>G	ENSP00000364240:p.Tyr72Cys						p.Y72C	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN			2	299	+			72					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.215A>G	CCDS205.1	.	.	.	.	.	.	.	.	.	.	A	6.972	0.549260	0.13374	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.39	2.29	0.28610	.	0.944305	0.08859	N	0.883340	T	0.16514	0.0397	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25293	-1.0136	9	0.38643	T	0.18	0.0034	5.8415	0.18637	0.2522:0.1838:0.564:0.0	.	72	Q96LJ8	UBX10_HUMAN	C	72	.	ENSP00000364240:Y72C	Y	+	2	0	UBXN10	20389856	0.000000	0.05858	0.109000	0.21407	0.664000	0.39144	0.438000	0.21559	0.155000	0.19261	-0.242000	0.12053	TAT		PASS	0.567	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		27	52	27	52	---	---	---	---
RPS8	6202	broad.mit.edu	37	1	45242381	45242381	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:45242381G>T	ENST00000396651.3	+	3	306	c.146G>T	c.(145-147)cGg>cTg	p.R49L	RP11-269F19.2_ENST00000428791.1_RNA|SNORD55_ENST00000581525.1_RNA|SNORD46_ENST00000364043.1_RNA|SNORD38A_ENST00000365161.1_RNA|RPS8_ENST00000372209.3_Missense_Mutation_p.R49L|SNORD38B_ENST00000384690.1_RNA|RPS8_ENST00000485390.1_3'UTR			P62241	RS8_HUMAN	ribosomal protein S8	49					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R49L(1)		central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCCGTGTGCGGGGAGGTAAC	0.567																																						uc001cmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)CGG>CTG		ribosomal protein S8							66.0	57.0	60.0					1																	45242381		2203	4300	6503	SO:0001583	missense	6202				endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr1:45242381G>T	BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.146G>T	1.37:g.45242381G>T	ENSP00000379888:p.Arg49Leu					SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank	p.R49L	NM_001012	NP_001003	P62241	RS8_HUMAN			3	169	+	Acute lymphoblastic leukemia(166;0.155)		49					P09058|Q6IRL7	Missense_Mutation	SNP	ENST00000396651.3	37	c.146G>T	CCDS513.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831617	0.91036	.	.	ENSG00000142937	ENST00000396651;ENST00000372209	T;T	0.35973	1.28;1.28	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.93016	3.37	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.77638	-0.2513	10	0.87932	D	0	-10.5741	17.0314	0.86462	0.0:0.0:1.0:0.0	.	49	P62241	RS8_HUMAN	L	49	ENSP00000379888:R49L;ENSP00000361283:R49L	ENSP00000361283:R49L	R	+	2	0	RPS8	45014968	1.000000	0.71417	0.910000	0.35882	0.979000	0.70002	9.243000	0.95416	2.507000	0.84556	0.655000	0.94253	CGG		PASS	0.567	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012		11	23	11	23	---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46660018	46660018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:46660018G>T	ENST00000371984.3	-	9	964	c.807C>A	c.(805-807)tgC>tgA	p.C269*	POMGNT1_ENST00000535522.1_Nonsense_Mutation_p.C247*|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371986.3_Nonsense_Mutation_p.C269*|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371992.1_Nonsense_Mutation_p.C269*	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	269			C -> Y (in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form). {ECO:0000269|PubMed:12588800}.		protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)	p.C269*(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CAACTTTGCTGCAGAAGCGCC	0.602																																						uc001cpe.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(805-807)TGC>TGA		O-linked mannose							97.0	95.0	96.0					1																	46660018		2203	4300	6503	SO:0001587	stop_gained	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46660018G>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.807C>A	1.37:g.46660018G>T	ENSP00000361052:p.Cys269*					POMGNT1_uc010olx.1_Nonsense_Mutation_p.C247*|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Nonsense_Mutation_p.C126*|POMGNT1_uc001cpg.2_Nonsense_Mutation_p.C269*|POMGNT1_uc001cpf.2_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	p.C269*	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			9	971	-	Acute lymphoblastic leukemia(166;0.155)		269		C -> Y (in MDDGA3; specific activity abolished of the membrane bound form but not the soluble form).	Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Nonsense_Mutation	SNP	ENST00000371984.3	37	c.807C>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	42	9.348813	0.99145	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	.	.	.	5.62	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1626	11.6367	0.51209	0.1428:0.0:0.8572:0.0	.	.	.	.	X	269;269;247;269	.	ENSP00000361052:C269X	C	-	3	2	POMGNT1	46432605	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.401000	0.59716	1.382000	0.46385	-0.266000	0.10368	TGC		PASS	0.602	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		9	23	9	23	---	---	---	---
BSND	7809	broad.mit.edu	37	1	55474046	55474046	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:55474046C>G	ENST00000371265.4	+	4	962	c.708C>G	c.(706-708)gaC>gaG	p.D236E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	236					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.D236E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCGCTGGACCGCTTCCAAG	0.597																																					Ovarian(191;1657 2078 22894 42033 48899)	uc001cye.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(706-708)GAC>GAG		barttin							52.0	54.0	53.0					1																	55474046		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55474046C>G	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.708C>G	1.37:g.55474046C>G	ENSP00000360312:p.Asp236Glu						p.D236E	NM_057176	NP_476517	Q8WZ55	BSND_HUMAN			4	951	+			236			Cytoplasmic (Potential).		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.708C>G	CCDS602.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299280	0.23650	.	.	ENSG00000162399	ENST00000371265	T	0.69685	-0.42	4.83	-1.52	0.08637	.	0.182842	0.37906	N	0.001898	T	0.47691	0.1459	L	0.41027	1.25	0.19945	N	0.999949	P	0.36144	0.539	B	0.37144	0.242	T	0.36261	-0.9755	10	0.22706	T	0.39	-23.5164	4.7741	0.13171	0.1636:0.2708:0.0:0.5655	.	236	Q8WZ55	BSND_HUMAN	E	236	ENSP00000360312:D236E	ENSP00000360312:D236E	D	+	3	2	BSND	55246634	0.004000	0.15560	0.154000	0.22540	0.045000	0.14185	-0.449000	0.06812	-0.148000	0.11234	-0.275000	0.10095	GAC		PASS	0.597	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		6	19	6	19	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037757	75037757	+	Nonsense_Mutation	SNP	C	C	A	rs143506603	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:75037757C>A	ENST00000326665.5	-	14	3855	c.3637G>T	c.(3637-3639)Gag>Tag	p.E1213*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1213	Glu-rich.							p.E1213*(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						AAGGCCCCCTCTCCATCTTGG	0.602																																						uc001dgg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3637-3639)GAG>TAG		hypothetical protein LOC127254							95.0	95.0	95.0					1																	75037757		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75037757C>A																												ENST00000326665.5:c.3637G>T	1.37:g.75037757C>A	ENSP00000322609:p.Glu1213*						p.E1213*	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3856	-			1213			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.3637G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	40	8.377702	0.98784	.	.	ENSG00000178965	ENST00000326665	.	.	.	4.88	0.397	0.16314	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.3664	4.3076	0.10955	0.2787:0.5066:0.1355:0.0793	.	.	.	.	X	1213	.	ENSP00000322609:E1213X	E	-	1	0	C1orf173	74810345	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.408000	0.34668	0.098000	0.17522	-0.314000	0.08810	GAG		PASS	0.602	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			21	35	21	35	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038942	75038942	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:75038942G>T	ENST00000326665.5	-	14	2670	c.2452C>A	c.(2452-2454)Cag>Aag	p.Q818K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		818	Glu-rich.							p.Q818K(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						AATTCTGGCTGCTCTGCTGTT	0.552																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2452-2454)CAG>AAG		hypothetical protein LOC127254							89.0	86.0	87.0					1																	75038942		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038942G>T																												ENST00000326665.5:c.2452C>A	1.37:g.75038942G>T	ENSP00000322609:p.Gln818Lys						p.Q818K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2671	-			818			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2452C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	8.786	0.929526	0.18131	.	.	ENSG00000178965	ENST00000326665	T	0.14266	2.52	5.28	3.33	0.38152	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	0.09310	N	0.999999	B	0.19073	0.033	B	0.21151	0.033	T	0.46400	-0.9194	9	0.06891	T	0.86	-0.0771	10.3476	0.43916	0.0:0.1467:0.701:0.1523	.	818	Q5RHP9	CA173_HUMAN	K	818	ENSP00000322609:Q818K	ENSP00000322609:Q818K	Q	-	1	0	C1orf173	74811530	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.665000	0.25083	0.664000	0.31047	-0.165000	0.13383	CAG		PASS	0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			18	67	18	67	---	---	---	---
PIGK	10026	broad.mit.edu	37	1	77620189	77620189	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:77620189C>G	ENST00000370812.3	-	9	954	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	PIGK_ENST00000359130.1_Missense_Mutation_p.E311Q|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.E217Q|PIGK_ENST00000370813.5_Missense_Mutation_p.E235Q	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	311	Essential for GPI attachment.				attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.E311Q(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GTTGTAATTTCCACTTTCCGT	0.363																																						uc001dhk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(931-933)GAA>CAA		phosphatidylinositol glycan anchor biosynthesis,							132.0	124.0	127.0					1																	77620189		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77620189C>G	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.931G>C	1.37:g.77620189C>G	ENSP00000359848:p.Glu311Gln					PIGK_uc010orj.1_Missense_Mutation_p.E235Q|PIGK_uc009wbx.2_Missense_Mutation_p.E217Q|PIGK_uc001dhl.1_Missense_Mutation_p.E311Q	p.E311Q	NM_005482	NP_005473	Q92643	GPI8_HUMAN			9	976	-			311	Missing: Loss of activity.		Lumenal (Potential).|Essential for GPI attachment.		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.931G>C	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800521	0.70567	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.49432	0.79;0.79;0.78;0.82	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.29908	0.895	0.80722	D	1	P;B;B;B	0.34587	0.458;0.228;0.269;0.228	B;B;B;B	0.39904	0.313;0.206;0.097;0.094	T	0.13361	-1.0512	10	0.33940	T	0.23	-29.2898	18.5907	0.91210	0.0:1.0:0.0:0.0	.	235;217;311;311	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	Q	311;217;235;311	ENSP00000359848:E311Q;ENSP00000388854:E217Q;ENSP00000359849:E235Q;ENSP00000352041:E311Q	ENSP00000352041:E311Q	E	-	1	0	PIGK	77392777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.387000	0.79785	2.466000	0.83321	0.655000	0.94253	GAA		PASS	0.363	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		11	25	11	25	---	---	---	---
MCOLN3	55283	broad.mit.edu	37	1	85488037	85488037	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:85488037G>T	ENST00000370589.2	-	10	1194	c.1142C>A	c.(1141-1143)aCc>aAc	p.T381N	MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.T325N	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	381					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T381N(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CACGAGCATGGTAGAAGTCCC	0.398																																						uc001dkp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1141-1143)ACC>AAC		mucolipin 3							86.0	81.0	83.0					1																	85488037		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85488037G>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1142C>A	1.37:g.85488037G>T	ENSP00000359621:p.Thr381Asn					MCOLN3_uc001dko.2_5'UTR|MCOLN3_uc001dkq.2_Missense_Mutation_p.T325N	p.T381N	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	10	1235	-			381			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1142C>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486852	0.84854	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.69926	-0.44;-0.44	5.73	5.73	0.89815	Polycystin cation channel, PKD1/PKD2 (1);	0.043475	0.85682	D	0.000000	T	0.73171	0.3553	L	0.49455	1.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66296	-0.5959	10	0.25106	T	0.35	-11.0972	19.8917	0.96932	0.0:0.0:1.0:0.0	.	325;381	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	N	381;381;325;325	ENSP00000359621:T381N;ENSP00000342698:T325N	ENSP00000304843:T381N	T	-	2	0	MCOLN3	85260625	1.000000	0.71417	0.978000	0.43139	0.958000	0.62258	9.382000	0.97209	2.693000	0.91896	0.650000	0.86243	ACC		PASS	0.398	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		15	46	15	46	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86959196	86959196	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:86959196T>G	ENST00000234701.3	+	11	1945	c.1594T>G	c.(1594-1596)Tgg>Ggg	p.W532G	CLCA1_ENST00000394711.1_Missense_Mutation_p.W532G			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	532					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.W532G(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATCCTTCTCTGGGATCCCAG	0.507																																						uc001dlt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1594-1596)TGG>GGG		chloride channel accessory 1 precursor							131.0	110.0	117.0					1																	86959196		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959196T>G		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1594T>G	1.37:g.86959196T>G	ENSP00000234701:p.Trp532Gly					CLCA1_uc001dls.1_Missense_Mutation_p.W471G	p.W532G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	10	1723	+		Lung NSC(277;0.239)	532					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1594T>G	CCDS709.1	.	.	.	.	.	.	.	.	.	.	T	7.297	0.612324	0.14066	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.28666	1.6;1.6	5.7	3.37	0.38596	Domain of unknown function DUF1973 (1);	0.578800	0.17618	N	0.167836	T	0.06645	0.0170	L	0.38175	1.15	0.28661	N	0.906146	B;B	0.12630	0.006;0.003	B;B	0.21151	0.033;0.033	T	0.35968	-0.9767	10	0.21540	T	0.41	-0.1599	1.6782	0.02826	0.1353:0.1527:0.1403:0.5717	.	532;295	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	G	532;532;245	ENSP00000234701:W532G;ENSP00000378200:W532G	ENSP00000234701:W532G	W	+	1	0	CLCA1	86731784	0.906000	0.30813	1.000000	0.80357	0.797000	0.45037	0.664000	0.25068	0.429000	0.26202	0.455000	0.32223	TGG		PASS	0.507	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		21	48	21	48	---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91180241	91180241	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:91180241C>A	ENST00000370445.4	-	2	739	c.698G>T	c.(697-699)cGa>cTa	p.R233L		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	233					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R233L(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCTTGCTTTTCGAGGCTTCTT	0.557																																					GBM(199;3561 4100 22440)	uc001dns.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)CGA>CTA		BarH-like homeobox 2							179.0	172.0	174.0					1																	91180241		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91180241C>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.698G>T	1.37:g.91180241C>A	ENSP00000359474:p.Arg233Leu						p.R233L	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	740	-		all_lung(203;0.0263)|Lung SC(238;0.128)	233			Homeobox.		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.698G>T	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309683	0.81247	.	.	ENSG00000143032	ENST00000370445	D	0.97303	-4.33	5.24	5.24	0.73138	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065146	0.64402	D	0.000008	D	0.99177	0.9715	H	0.98594	4.275	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.99026	1.0819	10	0.87932	D	0	.	17.4207	0.87514	0.0:1.0:0.0:0.0	.	233	Q9NY43	BARH2_HUMAN	L	233	ENSP00000359474:R233L	ENSP00000359474:R233L	R	-	2	0	BARHL2	90952829	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.818000	0.86416	2.440000	0.82611	0.655000	0.94253	CGA		PASS	0.557	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			39	122	39	122	---	---	---	---
TRMT13	54482	broad.mit.edu	37	1	100598729	100598729	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:100598729C>A	ENST00000370141.2	+	1	11	c.5C>A	c.(4-6)gCg>gAg	p.A2E	SASS6_ENST00000287482.5_5'Flank|SASS6_ENST00000462159.1_5'Flank|SASS6_ENST00000535161.1_5'Flank|TRMT13_ENST00000370143.1_Missense_Mutation_p.A2E|TRMT13_ENST00000370139.1_5'Flank	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	2					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A2E(1)									AGAATTATGGCGACCTCCGCG	0.557																																						uc001dsv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCG>GAG		coiled-coil domain containing 76							43.0	47.0	46.0					1																	100598729		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100598729C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.5C>A	1.37:g.100598729C>A	ENSP00000359160:p.Ala2Glu					SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.A2E	p.A2E	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	1	24	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	2					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.5C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807274	0.70797	.	.	ENSG00000122435	ENST00000370143;ENST00000370141	T;T	0.48201	0.83;0.82	4.93	1.71	0.24356	.	0.797170	0.11570	N	0.550899	T	0.13713	0.0332	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.003;0.007	B;B	0.11329	0.006;0.005	T	0.08006	-1.0743	10	0.52906	T	0.07	-1.313	11.7729	0.51968	0.507:0.493:0.0:0.0	.	2;2	B4DQS9;Q9NUP7	.;TRM13_HUMAN	E	2	ENSP00000359162:A2E;ENSP00000359160:A2E	ENSP00000359160:A2E	A	+	2	0	CCDC76	100371317	0.564000	0.26602	0.672000	0.29872	0.053000	0.15095	0.708000	0.25719	0.157000	0.19338	0.650000	0.86243	GCG		PASS	0.557	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		4	32	4	32	---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109910038	109910038	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:109910038T>A	ENST00000256637.6	-	3	490	c.432A>T	c.(430-432)ctA>ctT	p.L144L	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_Silent_p.L8L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	144					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.L144L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACCTTCGATATAGCTTGGACT	0.383																																						uc001dxm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(430-432)CTA>CTT		sortilin 1 preproprotein							203.0	202.0	202.0					1																	109910038		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109910038T>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.432A>T	1.37:g.109910038T>A						SORT1_uc010ovi.1_Silent_p.L8L|SORT1_uc009wfb.2_Silent_p.L8L	p.L144L	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	3	481	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	144			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.432A>T	CCDS798.1																																																																																				PASS	0.383	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		30	100	30	100	---	---	---	---
ATXN7L2	127002	broad.mit.edu	37	1	110028702	110028702	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:110028702A>T	ENST00000369870.3	+	2	166	c.151A>T	c.(151-153)Aaa>Taa	p.K51*		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	51								p.K51*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAGAGTAGCAAAAACACGAA	0.537																																						uc001dxr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(151-153)AAA>TAA		ataxin 7-like 2							105.0	100.0	102.0					1																	110028702		2203	4300	6503	SO:0001587	stop_gained	127002							g.chr1:110028702A>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.151A>T	1.37:g.110028702A>T	ENSP00000358886:p.Lys51*					ATXN7L2_uc001dxs.2_5'Flank	p.K51*	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	166	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	51						Nonsense_Mutation	SNP	ENST00000369870.3	37	c.151A>T	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463349	0.84425	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	.	.	.	4.59	4.59	0.56863	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0981	8.3017	0.32019	0.7994:0.2006:0.0:0.0	.	.	.	.	X	51	.	ENSP00000358886:K51X	K	+	1	0	ATXN7L2	109830225	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.618000	0.61211	1.942000	0.56320	0.459000	0.35465	AAA		PASS	0.537	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		20	40	20	40	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120437651	120437651	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:120437651C>G	ENST00000369400.1	-	1	1467	c.1309G>C	c.(1309-1311)Gcc>Ccc	p.A437P		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	437	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A437P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTACAGTTGGCACCTGGTTGC	0.453																																						uc001eij.2																			1	Substitution - Missense(1)	p.A437G(1)	lung(1)	ovary(2)|lung(1)	3						c.(1309-1311)GCC>CCC		ADAM metallopeptidase domain 30 preproprotein							183.0	163.0	170.0					1																	120437651		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437651C>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1309G>C	1.37:g.120437651C>G	ENSP00000358407:p.Ala437Pro						p.A437P	NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1463	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	437			Disintegrin.|Extracellular (Potential).		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1309G>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382101	0.61845	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.14266	2.52	4.82	3.89	0.44902	Blood coagulation inhibitor, Disintegrin (5);	0.145674	0.31221	N	0.008037	T	0.31420	0.0796	M	0.92507	3.315	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29549	-1.0008	10	0.72032	D	0.01	.	10.7675	0.46303	0.0:0.8081:0.1919:0.0	.	437	Q9UKF2	ADA30_HUMAN	P	437	ENSP00000358407:A437P	ENSP00000358407:A437P	A	-	1	0	ADAM30	120239174	0.001000	0.12720	0.112000	0.21494	0.259000	0.26198	0.522000	0.22909	1.219000	0.43474	0.563000	0.77884	GCC		PASS	0.453	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		30	79	30	79	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144874717	144874717	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:144874717G>C	ENST00000369354.3	-	30	5080	c.4891C>G	c.(4891-4893)Cac>Gac	p.H1631D	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H1767D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H1631D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H1587D|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H1767D|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1631	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.H1631D(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTCATAGTGTGTGTACTCG	0.522			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4891-4893)CAC>GAC		phosphodiesterase 4D interacting protein isoform							321.0	298.0	306.0					1																	144874717		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874717G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4891C>G	1.37:g.144874717G>C	ENSP00000358360:p.His1631Asp					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.H1587D|PDE4DIP_uc001elv.3_Missense_Mutation_p.H638D	p.H1631D	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	5182	-			1631			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4891C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345235	0.24426	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01572	4.76;4.83;4.83;4.87;4.83	5.82	3.91	0.45181	DUF1220 (1);	.	.	.	.	T	0.01029	0.0034	L	0.51422	1.61	0.80722	D	1	B;B	0.21688	0.034;0.059	B;B	0.18561	0.022;0.013	T	0.49835	-0.8897	9	0.54805	T	0.06	.	11.6619	0.51352	0.0:0.0:0.6774:0.3226	.	1587;1631	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	D	1587;1631;1631;1767;1767	ENSP00000327209:H1587D;ENSP00000358360:H1631D;ENSP00000358363:H1631D;ENSP00000435654:H1767D;ENSP00000358366:H1767D	ENSP00000327209:H1587D	H	-	1	0	PDE4DIP	143586074	0.578000	0.26717	0.997000	0.53966	0.841000	0.47740	2.204000	0.42761	0.774000	0.33427	-0.158000	0.13435	CAC		PASS	0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		38	216	38	216	---	---	---	---
CGN	57530	broad.mit.edu	37	1	151501956	151501956	+	Missense_Mutation	SNP	G	G	T	rs537822448		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:151501956G>T	ENST00000271636.7	+	11	2160	c.2027G>T	c.(2026-2028)gGt>gTt	p.G676V	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	670	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.G676V(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGATCGAGGTCGGGAGCTG	0.627																																						uc009wmw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2026-2028)GGT>GTT		cingulin							40.0	38.0	38.0					1																	151501956		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151501956G>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2027G>T	1.37:g.151501956G>T	ENSP00000271636:p.Gly676Val						p.G676V	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		11	2171	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		670			Glu-rich.|Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2027G>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	9.050	0.991940	0.18966	.	.	ENSG00000143375	ENST00000271636	T	0.62498	0.02	4.43	1.19	0.21007	.	0.644669	0.17428	N	0.174596	T	0.26085	0.0636	L	0.40543	1.245	0.21984	N	0.999437	B	0.06786	0.001	B	0.04013	0.001	T	0.24048	-1.0171	10	0.26408	T	0.33	-0.2946	7.6301	0.28234	0.0:0.1478:0.4719:0.3803	.	670	Q9P2M7	CING_HUMAN	V	676	ENSP00000271636:G676V	ENSP00000271636:G676V	G	+	2	0	CGN	149768580	0.000000	0.05858	0.412000	0.26496	0.860000	0.49131	0.122000	0.15687	0.146000	0.19002	-0.274000	0.10170	GGT		PASS	0.627	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		6	31	6	31	---	---	---	---
MEF2D	4209	broad.mit.edu	37	1	156450738	156450738	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:156450738C>A	ENST00000348159.4	-	4	764	c.284G>T	c.(283-285)gGc>gTc	p.G95V	MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000360595.3_Missense_Mutation_p.G95V|MEF2D_ENST00000464356.2_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.G95V	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	95					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G95V(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGTCGCAGCCGTTGAAGCC	0.667											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fpc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GGC>GTC		myocyte enhancer factor 2D							79.0	88.0	85.0					1																	156450738		2203	4299	6502	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156450738C>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.284G>T	1.37:g.156450738C>A	ENSP00000271555:p.Gly95Val		OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1778	MEF2D_uc001fpb.2_Missense_Mutation_p.G95V|MEF2D_uc001fpd.2_Missense_Mutation_p.G95V|MEF2D_uc001fpe.1_Missense_Mutation_p.G95V|MEF2D_uc009wsa.2_RNA	p.G95V	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			4	674	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		95					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.284G>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119209	0.94385	.	.	ENSG00000116604	ENST00000348159;ENST00000368240;ENST00000360595;ENST00000541336	T;T;T	0.62498	0.02;0.02;0.02	5.08	5.08	0.68730	Holliday junction regulator protein family C-terminal repeat (1);	0.094664	0.64402	D	0.000001	T	0.75910	0.3914	M	0.82517	2.595	0.80722	D	1	P;P;P	0.50066	0.931;0.884;0.749	P;P;P	0.61592	0.891;0.848;0.815	T	0.79776	-0.1661	10	0.87932	D	0	-13.0059	17.4126	0.87491	0.0:1.0:0.0:0.0	.	100;95;95	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	V	95	ENSP00000271555:G95V;ENSP00000357223:G95V;ENSP00000353803:G95V	ENSP00000271555:G95V	G	-	2	0	MEF2D	154717362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.683000	0.68189	2.529000	0.85273	0.561000	0.74099	GGC		PASS	0.667	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		18	43	18	43	---	---	---	---
APOA1BP	128240	broad.mit.edu	37	1	156563309	156563309	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:156563309G>C	ENST00000368235.3	+	5	669	c.626G>C	c.(625-627)gGa>gCa	p.G209A	APOA1BP_ENST00000368234.3_Silent_p.G190G|GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368233.3_Missense_Mutation_p.G209A	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein									p.G209A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCCTGAAGGGACTCACTGTG	0.567																																						uc001fph.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(625-627)GGA>GCA		apolipoprotein A-I binding protein precursor							139.0	112.0	121.0					1																	156563309		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563309G>C	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.626G>C	1.37:g.156563309G>C	ENSP00000357218:p.Gly209Ala					APOA1BP_uc001fpg.2_Missense_Mutation_p.G209A|APOA1BP_uc001fpi.2_Silent_p.G190G|APOA1BP_uc001fpj.2_Missense_Mutation_p.G126A|APOA1BP_uc001fpk.2_Missense_Mutation_p.G106A|APOA1BP_uc010php.1_Missense_Mutation_p.G106A	p.G209A	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			5	665	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		209			YjeF N-terminal.			Missense_Mutation	SNP	ENST00000368235.3	37	c.626G>C	CCDS1145.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276036	0.23307	.	.	ENSG00000163382	ENST00000446584;ENST00000368235;ENST00000368233	T;T	0.38240	1.15;1.15	5.55	3.68	0.42216	YjeF-related protein, N-terminal (5);	0.300009	0.31450	N	0.007637	T	0.05364	0.0142	N	0.16903	0.455	0.09310	N	0.999999	B;P	0.40050	0.001;0.7	B;B	0.30572	0.005;0.117	T	0.26326	-1.0106	10	0.07813	T	0.8	.	9.3046	0.37867	0.1724:0.0:0.8276:0.0	.	209;209	Q8NCW5;Q5T3I4	AIBP_HUMAN;.	A	227;209;209	ENSP00000357218:G209A;ENSP00000357216:G209A	ENSP00000357216:G209A	G	+	2	0	APOA1BP	154829933	0.307000	0.24500	0.944000	0.38274	0.989000	0.77384	2.192000	0.42649	1.335000	0.45486	0.655000	0.94253	GGA		PASS	0.567	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		14	51	14	51	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667113	157667113	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:157667113C>G	ENST00000368184.3	-	6	952	c.661G>C	c.(661-663)Gat>Cat	p.D221H	FCRL3_ENST00000368186.5_Missense_Mutation_p.D221H|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	221	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D221H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCTGGACATCTGGCCTCTGT	0.582																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(661-663)GAT>CAT		Fc receptor-like 3 precursor							80.0	83.0	82.0					1																	157667113		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667113C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.661G>C	1.37:g.157667113C>G	ENSP00000357167:p.Asp221His					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D221H|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.D221H	p.D221H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			6	953	-	all_hematologic(112;0.0378)		221			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.661G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598231	0.00857	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13089	2.62;2.62	5.21	-10.4	0.00318	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.024200	0.03038	N	0.152971	T	0.02649	0.0080	M	0.69185	2.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.014;0.007	T	0.45977	-0.9224	10	0.39692	T	0.17	.	3.6741	0.08286	0.2018:0.3533:0.0756:0.3693	.	221;221	Q96P31;Q96P31-6	FCRL3_HUMAN;.	H	221	ENSP00000357169:D221H;ENSP00000357167:D221H	ENSP00000292392:D221H	D	-	1	0	FCRL3	155933737	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.921000	0.00027	-7.095000	0.00001	-3.597000	0.00028	GAT		PASS	0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		25	59	25	59	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160395042	160395042	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:160395042A>C	ENST00000368061.2	+	8	1914	c.1440A>C	c.(1438-1440)ttA>ttC	p.L480F		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	480					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.L480F(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCCTCTTAAAACGCCAGG	0.527																																						uc001fwb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1438-1440)TTA>TTC		vang-like 2							91.0	79.0	83.0					1																	160395042		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395042A>C	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1440A>C	1.37:g.160395042A>C	ENSP00000357040:p.Leu480Phe					VANGL2_uc001fwc.1_Missense_Mutation_p.L480F	p.L480F	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1739	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		480			Cytoplasmic (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1440A>C	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743435	0.69418	.	.	ENSG00000162738	ENST00000368061	D	0.87491	-2.26	4.17	-1.51	0.08664	.	0.000000	0.64402	D	0.000013	D	0.90469	0.7015	M	0.90369	3.11	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.88495	0.3078	10	0.87932	D	0	-1.2893	6.8984	0.24269	0.3037:0.1755:0.5208:0.0	.	480	Q9ULK5	VANG2_HUMAN	F	480	ENSP00000357040:L480F	ENSP00000357040:L480F	L	+	3	2	VANGL2	158661666	0.296000	0.24398	0.997000	0.53966	0.978000	0.69477	-0.538000	0.06120	-0.123000	0.11745	0.482000	0.46254	TTA		PASS	0.527	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		20	39	20	39	---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161641367	161641367	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:161641367G>T	ENST00000358671.5	+	3	400	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	FCGR2B_ENST00000428605.2_Missense_Mutation_p.D107Y|FCGR2B_ENST00000367962.4_Missense_Mutation_p.D107Y|FCGR2B_ENST00000236937.9_Missense_Mutation_p.D107Y|FCGR2B_ENST00000367960.5_Missense_Mutation_p.D100Y|FCGR2B_ENST00000403078.3_Missense_Mutation_p.D107Y|FCGR2B_ENST00000367961.4_Missense_Mutation_p.D100Y|RP11-25K21.1_ENST00000453111.1_RNA	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	107	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D107Y(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACAACAATGACAGCGGGGA	0.587			T	?	ALL																																	uc001gaz.1				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GAC>TAC		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						41.0	44.0	43.0					1																	161641367		2202	4278	6480	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161641367G>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.319G>T	1.37:g.161641367G>T	ENSP00000351497:p.Asp107Tyr					FCGR2B_uc009wum.1_Missense_Mutation_p.D107Y|FCGR2B_uc001gay.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gba.1_Missense_Mutation_p.D106Y|FCGR2B_uc001gbb.1_Missense_Mutation_p.D107Y|FCGR2B_uc009wun.1_Missense_Mutation_p.D100Y	p.D107Y	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	411	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		107			Ig-like C2-type 1.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.319G>T	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642246	0.29157	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000428605;ENST00000236937;ENST00000367961;ENST00000358671;ENST00000452001	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.53	2.61	0.31194	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102553	0.42548	D	0.000694	T	0.71256	0.3318	M	0.89840	3.065	0.25703	N	0.985569	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.982;0.997;0.998	D;D;D;P;D;D	0.97110	0.993;1.0;0.995;0.834;0.96;0.938	T	0.63139	-0.6704	10	0.87932	D	0	.	7.4033	0.26977	0.2144:0.0:0.7856:0.0	.	100;107;107;107;107;107	P31994-3;P31995-4;P31994-2;P31995-2;P31994;P31995-3	.;.;.;.;FCG2B_HUMAN;.	Y	107;100;107;107;107;100;107;106	ENSP00000356939:D107Y;ENSP00000356937:D100Y;ENSP00000386038:D107Y;ENSP00000404329:D107Y;ENSP00000236937:D107Y;ENSP00000356938:D100Y;ENSP00000351497:D107Y	ENSP00000236937:D107Y	D	+	1	0	FCGR2B	159907991	0.551000	0.26497	0.021000	0.16686	0.100000	0.18952	0.766000	0.26560	0.893000	0.36288	0.462000	0.41574	GAC		PASS	0.587	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		10	33	10	33	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167852846	167852846	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:167852846C>G	ENST00000367851.4	-	9	1033	c.849G>C	c.(847-849)caG>caC	p.Q283H	ADCY10_ENST00000367848.1_Missense_Mutation_p.Q191H|ADCY10_ENST00000545172.1_Missense_Mutation_p.Q130H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	283					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.Q283H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATAAATAGCCCTGAAGCTGTT	0.507																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(847-849)CAG>CAC		adenylate cyclase 10							111.0	97.0	102.0					1																	167852846		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167852846C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.849G>C	1.37:g.167852846C>G	ENSP00000356825:p.Gln283His					ADCY10_uc009wvk.2_Missense_Mutation_p.Q191H|ADCY10_uc010plj.1_Missense_Mutation_p.Q130H|ADCY10_uc009wvl.2_Missense_Mutation_p.Q282H|ADCY10_uc009wvm.2_RNA	p.Q283H	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			9	1147	-			283					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.849G>C	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	7.181	0.589522	0.13812	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30981	1.51;1.51;1.51	5.52	2.03	0.26663	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.775102	0.11693	N	0.538690	T	0.06416	0.0165	N	0.14661	0.345	0.23198	N	0.998137	P;P;P	0.41848	0.763;0.763;0.65	B;B;B	0.38056	0.264;0.264;0.135	T	0.16453	-1.0402	9	0.45353	T	0.12	-0.3912	5.8116	0.18469	0.0:0.6375:0.1648:0.1977	.	130;191;283	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	H	130;283;191	ENSP00000441992:Q130H;ENSP00000356825:Q283H;ENSP00000356822:Q191H	ENSP00000356822:Q191H	Q	-	3	2	ADCY10	166119470	0.149000	0.22717	0.960000	0.40013	0.036000	0.12997	-0.345000	0.07770	0.634000	0.30469	0.655000	0.94253	CAG		PASS	0.507	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		14	41	14	41	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176661376	176661376	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:176661376C>T	ENST00000367662.3	+	6	3710	c.2546C>T	c.(2545-2547)cCa>cTa	p.P849L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	849					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.P849L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCCCCATTCCACCTATGGTC	0.517																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2545-2547)CCA>CTA		pappalysin 2 isoform 1							162.0	169.0	167.0					1																	176661376		2073	4212	6285	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661376C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2546C>T	1.37:g.176661376C>T	ENSP00000356634:p.Pro849Leu					PAPPA2_uc009www.2_RNA	p.P849L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			6	3710	+			849					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2546C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076020	0.94000	.	.	ENSG00000116183	ENST00000367662	T	0.01804	4.63	5.81	5.81	0.92471	Fibronectin, type III (2);	0.051869	0.85682	D	0.000000	T	0.09730	0.0239	M	0.70275	2.135	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.00145	-1.1993	10	0.72032	D	0.01	-10.3414	19.6776	0.95943	0.0:1.0:0.0:0.0	.	849	Q9BXP8	PAPP2_HUMAN	L	849	ENSP00000356634:P849L	ENSP00000356634:P849L	P	+	2	0	PAPPA2	174927999	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.677000	0.84024	2.746000	0.94184	0.655000	0.94253	CCA		PASS	0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			47	94	47	94	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197071710	197071710	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:197071710C>G	ENST00000367409.4	-	18	6927	c.6671G>C	c.(6670-6672)tGg>tCg	p.W2224S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2224					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.W2224S(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCATTGCCCAGTATCTTTG	0.328																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6670-6672)TGG>TCG		asp (abnormal spindle)-like, microcephaly							97.0	98.0	97.0					1																	197071710		2203	4296	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071710C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6671G>C	1.37:g.197071710C>G	ENSP00000356379:p.Trp2224Ser					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.W72S	p.W2224S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6928	-			2224					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6671G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	10.24	1.297023	0.23650	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.56776	0.44	5.17	5.17	0.71159	.	0.091054	0.46442	D	0.000297	T	0.43678	0.1258	N	0.22421	0.69	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.35375	-0.9791	10	0.72032	D	0.01	.	19.0334	0.92967	0.0:1.0:0.0:0.0	.	210;2224	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2224;210	ENSP00000356379:W2224S	ENSP00000356376:W210S	W	-	2	0	ASPM	195338333	1.000000	0.71417	0.933000	0.37362	0.015000	0.08874	5.932000	0.70121	2.576000	0.86940	0.639000	0.83563	TGG		PASS	0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		15	53	15	53	---	---	---	---
CD55	1604	broad.mit.edu	37	1	207510715	207510715	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:207510715C>A	ENST00000367064.3	+	8	1279	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N	CD55_ENST00000391921.4_Missense_Mutation_p.H277N|CD55_ENST00000367062.4_Missense_Mutation_p.H341N|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Missense_Mutation_p.H341N|CD55_ENST00000367063.2_Missense_Mutation_p.H341N|CD55_ENST00000367065.5_Missense_Mutation_p.H341N|CD55_ENST00000314754.8_Missense_Mutation_p.H341N	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	341	Ser/Thr-rich.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)	p.H341N(1)|p.H341Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CAAGCATTTTCATGAAACAAC	0.423																																						uc001hfq.3																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(1)	1						c.(1021-1023)CAT>AAT		decay accelerating factor for complement isoform	Chloramphenicol(DB00446)						156.0	136.0	143.0					1																	207510715		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207510715C>A	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.1021C>A	1.37:g.207510715C>A	ENSP00000356031:p.His341Asn					CD55_uc001hfp.3_Missense_Mutation_p.H341N|CD55_uc001hfr.3_Missense_Mutation_p.H341N|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.H277N|CD55_uc009xce.2_Missense_Mutation_p.H341N|CD55_uc009xcg.2_Missense_Mutation_p.H83N	p.H341N	NM_000574	NP_000565	P08174	DAF_HUMAN			8	1315	+			341			Ser/Thr-rich.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.1021C>A	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	C	1.294	-0.606880	0.03717	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.34275	1.42;1.59;1.79;1.49;1.51;1.37;1.39	3.27	-1.11	0.09840	.	2.480030	0.01564	N	0.020255	T	0.30510	0.0767	L	0.55481	1.735	0.09310	N	0.999996	B;B;P;P;P;P	0.45827	0.067;0.118;0.791;0.867;0.791;0.791	B;B;B;B;B;B	0.41271	0.018;0.033;0.146;0.352;0.146;0.192	T	0.17745	-1.0359	10	0.17369	T	0.5	.	2.8223	0.05474	0.3802:0.3878:0.0:0.232	.	341;277;341;341;341;341	Q14UF6;B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;.;DAF_HUMAN;.	N	341;341;277;277;341;341;341;341	ENSP00000356031:H341N;ENSP00000356030:H341N;ENSP00000375788:H277N;ENSP00000316333:H341N;ENSP00000356032:H341N;ENSP00000375787:H341N;ENSP00000356029:H341N	ENSP00000316333:H341N	H	+	1	0	CD55	205577338	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.281000	0.08456	-0.218000	0.10018	0.561000	0.74099	CAT		PASS	0.423	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		20	56	20	56	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207644261	207644261	+	Splice_Site	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:207644261G>T	ENST00000367058.3	+	7	1591	c.1402G>T	c.(1402-1404)Gtg>Ttg	p.V468L	CR2_ENST00000367057.3_Splice_Site_p.V468L|CR2_ENST00000367059.3_Splice_Site_p.V468L|CR2_ENST00000458541.2_Splice_Site_p.V468L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	468	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.V468L(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCAATGCAAAGGTGCCAGGCC	0.443																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1402-1404)GTG>TTG		complement component (3d/Epstein Barr virus)							70.0	70.0	70.0					1																	207644261		2203	4300	6503	SO:0001630	splice_region_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644261G>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1402+1G>T	1.37:g.207644261G>T						CR2_uc001hfv.2_Missense_Mutation_p.V468L|CR2_uc009xch.2_Missense_Mutation_p.V468L|CR2_uc009xci.1_5'Flank	p.V468L	NM_001877	NP_001868	P20023	CR2_HUMAN			7	1496	+			468			Sushi 7.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1402G>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791287	0.50102	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.57	4.57	0.56435	Sushi/SCR/CCP (1);	.	.	.	.	T	0.77485	0.4137	M	0.86740	2.835	0.39466	D	0.967653	B;B;B	0.17038	0.02;0.012;0.016	B;B;B	0.19666	0.026;0.01;0.026	T	0.77384	-0.2608	9	0.44086	T	0.13	.	13.6005	0.62015	0.0:0.0:1.0:0.0	.	468;468;468	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	468	ENSP00000356025:V468L;ENSP00000356024:V468L;ENSP00000356026:V468L;ENSP00000404222:V468L	ENSP00000356024:V468L	V	+	1	0	CR2	205710884	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	2.780000	0.47742	2.473000	0.83533	0.655000	0.94253	GTG		PASS	0.443	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	Missense_Mutation	10	23	10	23	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214571303	214571303	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:214571303C>G	ENST00000366956.5	-	8	905	c.711G>C	c.(709-711)atG>atC	p.M237I	PTPN14_ENST00000543945.1_Missense_Mutation_p.W208S	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	237	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.M237I(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGAAAATCCCCATAAAGAAAA	0.368																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(709-711)ATG>ATC		protein tyrosine phosphatase, non-receptor type							143.0	140.0	141.0					1																	214571303		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214571303C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.711G>C	1.37:g.214571303C>G	ENSP00000355923:p.Met237Ile					PTPN14_uc010pty.1_Missense_Mutation_p.M138I	p.M237I	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	8	982	-			237			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.711G>C	CCDS1514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.811504|2.811504	0.50527|0.50527	.|.	.|.	ENSG00000152104|ENSG00000152104	ENST00000366956|ENST00000543945	D|T	0.86769|0.78816	-2.17|-1.21	5.4|5.4	5.4|5.4	0.78164|0.78164	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);|.	0.041188|.	0.85682|.	D|.	0.000000|.	T|T	0.79964|0.79964	0.4537|0.4537	L|L	0.44542|0.44542	1.39|1.39	0.52099|0.52099	D|D	0.999943|0.999943	B|.	0.17465|.	0.022|.	B|.	0.17433|.	0.018|.	T|T	0.73920|0.73920	-0.3830|-0.3830	10|7	0.37606|0.19147	T|T	0.19|0.46	.|.	19.5444|19.5444	0.95285|0.95285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	237|.	Q15678|.	PTN14_HUMAN|.	I|S	237|208	ENSP00000355923:M237I|ENSP00000443330:W208S	ENSP00000355923:M237I|ENSP00000443330:W208S	M|W	-|-	3|2	0|0	PTPN14|PTPN14	212637926|212637926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.237000|3.237000	0.51344|0.51344	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	ATG|TGG		PASS	0.368	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		8	44	8	44	---	---	---	---
BPNT1	10380	broad.mit.edu	37	1	220232316	220232316	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:220232316T>C	ENST00000469520.2	-	10	1246	c.797A>G	c.(796-798)cAt>cGt	p.H266R	BPNT1_ENST00000354807.3_Missense_Mutation_p.H281R|BPNT1_ENST00000414869.2_Missense_Mutation_p.H230R|BPNT1_ENST00000322067.7_Missense_Mutation_p.H266R|BPNT1_ENST00000544404.1_Missense_Mutation_p.H211R			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	266					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.H266R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AACATTCCCATGGATATCGGT	0.398																																						uc001hma.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)CAT>CGT		3'(2'), 5'-bisphosphate nucleotidase 1							148.0	137.0	140.0					1																	220232316		1911	4148	6059	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220232316T>C	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.797A>G	1.37:g.220232316T>C	ENSP00000446828:p.His266Arg					BPNT1_uc010pug.1_Missense_Mutation_p.H211R|BPNT1_uc010puh.1_Missense_Mutation_p.H230R|BPNT1_uc001hmb.3_Missense_Mutation_p.H281R	p.H266R	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	9	969	-			266					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.797A>G	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078182	0.36662	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56	5.28	5.28	0.74379	.	0.045869	0.85682	D	0.000000	T	0.80352	0.4607	M	0.69248	2.105	0.80722	D	1	B;B;B	0.24132	0.003;0.098;0.002	B;B;B	0.24701	0.014;0.055;0.005	T	0.75947	-0.3138	10	0.29301	T	0.29	.	11.4581	0.50193	0.0:0.0726:0.0:0.9274	.	230;281;266	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	R	266;266;281;266;211;230	ENSP00000318852:H266R;ENSP00000446828:H266R;ENSP00000346862:H281R;ENSP00000444398:H211R;ENSP00000410348:H230R	ENSP00000307087:H266R	H	-	2	0	BPNT1	218298939	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.974000	0.63771	2.136000	0.66102	0.454000	0.30748	CAT		PASS	0.398	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		21	50	21	50	---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:234041399G>C	ENST00000366618.3	+	2	323	c.178G>C	c.(178-180)Gtg>Ctg	p.V60L		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	401					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642																																						uc001hvy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(178-180)GTG>CTG		solute carrier family 35, member F3							69.0	70.0	70.0					1																	234041399		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234041399G>C		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.178G>C	1.37:g.234041399G>C	ENSP00000355577:p.Val60Leu						p.V60L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	323	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	Error:Variant_position_missing_in_Q8IY50_after_alignment					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	c.178G>C	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298263	0.81025	.	.	ENSG00000183780	ENST00000366618	T	0.50813	0.73	5.23	5.23	0.72850	.	0.476461	0.22476	N	0.059559	T	0.70245	0.3202	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.73981	-0.3811	9	0.72032	D	0.01	-14.396	17.0273	0.86451	0.0:0.0:1.0:0.0	.	60	Q8IY50-2	.	L	60	ENSP00000355577:V60L	ENSP00000355577:V60L	V	+	1	0	SLC35F3	232108022	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	5.642000	0.67888	2.439000	0.82584	0.536000	0.68110	GTG		PASS	0.642	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		18	43	18	43	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875985	247875985	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:247875985G>T	ENST00000302084.2	-	1	120	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGAGAGAGAGCTGAAGAGTT	0.463																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CTC>ATC		olfactory receptor, family 6, subfamily F,							135.0	135.0	135.0					1																	247875985		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875985G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.73C>A	1.37:g.247875985G>T	ENSP00000305640:p.Leu25Ile						p.L25I	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	73	-	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)		25			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.73C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.666676	0.00765	.	.	ENSG00000169214	ENST00000302084	T	0.00272	8.36	3.84	-7.68	0.01268	.	1.449150	0.04792	N	0.431809	T	0.00109	0.0003	N	0.16833	0.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38415	-0.9662	10	0.06494	T	0.89	-1.4058	1.2891	0.02057	0.2297:0.1046:0.2428:0.4229	.	25	Q8NGZ6	OR6F1_HUMAN	I	25	ENSP00000305640:L25I	ENSP00000305640:L25I	L	-	1	0	OR6F1	245942608	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.448000	0.00467	-1.476000	0.01874	-1.068000	0.02270	CTC		PASS	0.463	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		16	245	16	245	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978670	247978670	+	Missense_Mutation	SNP	T	T	C	rs376641242		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:247978670T>C	ENST00000357627.1	-	1	361	c.362A>G	c.(361-363)tAt>tGt	p.Y121C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y121C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TATAGCAGTATAGCGGTCAAA	0.493																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)TAT>TGT		olfactory receptor, family 14, subfamily A,		T	CYS/TYR	0,4406		0,0,2203	117.0	110.0	112.0		362	3.7	1.0	1		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR14A16	NM_001001966.1	194	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	possibly-damaging	121/310	247978670	2,13004	2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978670T>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.362A>G	1.37:g.247978670T>C	ENSP00000350248:p.Tyr121Cys						p.Y121C	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	362	-			121			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.362A>G	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571528	0.28003	0.0	2.33E-4	ENSG00000196772	ENST00000357627	T	0.02121	4.44	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000906	T	0.06872	0.0175	M	0.83384	2.64	0.27136	N	0.961762	P	0.38473	0.633	B	0.43536	0.423	T	0.01982	-1.1235	10	0.62326	D	0.03	.	12.5532	0.56238	0.0:0.0:0.0:1.0	.	121	Q8NHC5	O14AG_HUMAN	C	121	ENSP00000350248:Y121C	ENSP00000350248:Y121C	Y	-	2	0	OR14A16	246045293	0.001000	0.12720	0.978000	0.43139	0.512000	0.34134	0.035000	0.13797	1.705000	0.51264	0.481000	0.45027	TAT		PASS	0.493	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		37	111	37	111	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248128902	248128902	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:248128902C>A	ENST00000366480.3	+	1	368	c.269C>A	c.(268-270)tCc>tAc	p.S90Y	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S90Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGTACATCTCCACCACAGTG	0.473																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(268-270)TCC>TAC		olfactory receptor, family 2, subfamily AK,							206.0	180.0	189.0					1																	248128902		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128902C>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.269C>A	1.37:g.248128902C>A	ENSP00000355436:p.Ser90Tyr					OR2L13_uc001ids.2_Intron	p.S90Y	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	269	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		90			Helical; Name=2; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.269C>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	15.94	2.982050	0.53827	.	.	ENSG00000187080	ENST00000366480	T	0.11821	2.74	3.15	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48589	0.1508	H	0.97516	4.02	0.09310	N	1	D	0.67145	0.996	D	0.65443	0.935	T	0.47420	-0.9119	9	0.87932	D	0	.	10.9628	0.47395	0.0:0.8072:0.1928:0.0	.	90	Q8NG84	O2AK2_HUMAN	Y	90	ENSP00000355436:S90Y	ENSP00000355436:S90Y	S	+	2	0	OR2AK2	246195525	0.000000	0.05858	0.695000	0.30226	0.265000	0.26407	0.283000	0.18846	0.575000	0.29434	0.455000	0.32223	TCC		PASS	0.473	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		30	79	30	79	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512845	248512845	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:248512845T>C	ENST00000317861.1	+	1	769	c.769T>C	c.(769-771)Tac>Cac	p.Y257H		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y257H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTCTTCTGTGTACCTCAGGCC	0.498																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(769-771)TAC>CAC		olfactory receptor, family 14, subfamily C,							183.0	125.0	145.0					1																	248512845		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512845T>C	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.769T>C	1.37:g.248512845T>C	ENSP00000324534:p.Tyr257His						p.Y257H	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	769	+			257			Extracellular (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.769T>C	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588641	0.46110	.	.	ENSG00000177174	ENST00000317861	T	0.00291	8.27	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001694	T	0.00496	0.0016	M	0.80508	2.5	0.09310	N	1	P	0.51057	0.941	P	0.55011	0.766	T	0.44697	-0.9311	10	0.49607	T	0.09	.	12.6798	0.56916	0.0:0.0:0.0:1.0	.	257	Q8NHC7	O14CZ_HUMAN	H	257	ENSP00000324534:Y257H	ENSP00000324534:Y257H	Y	+	1	0	OR14C36	246579468	0.000000	0.05858	0.039000	0.18376	0.143000	0.21401	0.477000	0.22196	1.654000	0.50703	0.324000	0.21423	TAC		PASS	0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		24	70	24	70	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512948	248512948	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:248512948G>A	ENST00000317861.1	+	1	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R291K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TACAGTCTTAGAAATAAGCAA	0.413																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(871-873)AGA>AAA		olfactory receptor, family 14, subfamily C,							69.0	83.0	78.0					1																	248512948		2184	4256	6440	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512948G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.872G>A	1.37:g.248512948G>A	ENSP00000324534:p.Arg291Lys						p.R291K	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	872	+			291			Cytoplasmic (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.872G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617400	0.28801	.	.	ENSG00000177174	ENST00000317861	T	0.39997	1.05	3.81	3.81	0.43845	.	0.000000	0.44902	U	0.000414	T	0.24661	0.0598	L	0.27975	0.815	0.20821	N	0.999843	P	0.41041	0.736	B	0.31191	0.125	T	0.24119	-1.0169	10	0.54805	T	0.06	.	10.4678	0.44618	0.0992:0.0:0.9008:0.0	.	291	Q8NHC7	O14CZ_HUMAN	K	291	ENSP00000324534:R291K	ENSP00000324534:R291K	R	+	2	0	OR14C36	246579571	1.000000	0.71417	0.998000	0.56505	0.281000	0.26958	2.241000	0.43097	1.978000	0.57642	0.395000	0.25975	AGA		PASS	0.413	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		33	89	33	89	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248813460	248813460	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:248813460G>A	ENST00000344889.3	-	1	725	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATGTGTGAGGAGCAGGTGG	0.522																																						uc010pzo.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(724-726)TCC>TCT		olfactory receptor, family 2, subfamily T,							44.0	30.0	35.0					1																	248813460		2185	4261	6446	SO:0001819	synonymous_variant	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813460G>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.726C>T	1.37:g.248813460G>A							p.S242S	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	726	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	242			Cytoplasmic (Potential).			Silent	SNP	ENST00000344889.3	37	c.726C>T	CCDS31124.1																																																																																				PASS	0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		6	9	6	9	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845065	248845065	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr1:248845065G>A	ENST00000342623.3	-	1	564	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H181Y(2)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GCCAACACATGAGGGATGTCA	0.502																																						uc001ieu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(541-543)CAT>TAT		olfactory receptor, family 14, subfamily I,							89.0	91.0	90.0					1																	248845065		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845065G>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.541C>T	1.37:g.248845065G>A	ENSP00000339726:p.His181Tyr						p.H181Y	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	541	-			181			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.541C>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	18.07	3.540849	0.65085	.	.	ENSG00000189181	ENST00000342623	T	0.00123	8.7	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.136255	0.32244	N	0.006380	T	0.00356	0.0011	M	0.62723	1.935	0.09310	N	1	D	0.65815	0.995	D	0.66351	0.943	T	0.50311	-0.8843	10	0.62326	D	0.03	.	11.6362	0.51204	0.0:0.0:1.0:0.0	.	181	A6ND48	O14I1_HUMAN	Y	181	ENSP00000339726:H181Y	ENSP00000339726:H181Y	H	-	1	0	OR14I1	246911688	0.000000	0.05858	0.038000	0.18304	0.957000	0.61999	0.592000	0.23984	1.611000	0.50210	0.543000	0.68304	CAT		PASS	0.502	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		16	41	16	41	---	---	---	---
RNASEH1	246243	broad.mit.edu	37	2	3595592	3595592	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:3595592C>T	ENST00000315212.3	-	7	1058	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RP13-512J5.1_ENST00000438485.1_5'Flank	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	235	RNase H. {ECO:0000255|PROSITE- ProRule:PRU00408}.				mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.G235R(1)		endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ACCTCTTTCCCTGCACTTGTC	0.458																																						uc002qxt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)GGG>AGG		ribonuclease H1							232.0	205.0	214.0					2																	3595592		2203	4300	6503	SO:0001583	missense	246243				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding	g.chr2:3595592C>T	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279	ENST00000315212.3:c.703G>A	2.37:g.3595592C>T	ENSP00000313350:p.Gly235Arg					RNASEH1_uc002qxs.2_Missense_Mutation_p.G118R	p.G235R	NM_002936	NP_002927	O60930	RNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)	7	793	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		235			RNase H.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000315212.3	37	c.703G>A	CCDS1647.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274833	0.80580	.	.	ENSG00000171865	ENST00000315212	T	0.57107	0.42	5.39	5.39	0.77823	Ribonuclease H domain (2);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.70385	-0.4886	9	.	.	.	-31.533	17.0073	0.86396	0.0:1.0:0.0:0.0	.	235	O60930	RNH1_HUMAN	R	235	ENSP00000313350:G235R	.	G	-	1	0	RNASEH1	3573467	0.994000	0.37717	0.876000	0.34364	0.666000	0.39218	3.327000	0.52045	2.679000	0.91253	0.591000	0.81541	GGG		PASS	0.458	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			40	126	40	126	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7001358	7001358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:7001358C>A	ENST00000256722.5	-	3	948	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	CMPK2_ENST00000458098.1_Nonsense_Mutation_p.E317*|CMPK2_ENST00000404168.1_Nonsense_Mutation_p.E317*|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	317					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.E317*(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTAGCTATTTCGGAGGCCACA	0.403																																						uc002qyo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(949-951)GAA>TAA		UMP-CMP kinase 2 precursor							100.0	92.0	94.0					2																	7001358		1875	4106	5981	SO:0001587	stop_gained	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7001358C>A		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.949G>T	2.37:g.7001358C>A	ENSP00000256722:p.Glu317*					CMPK2_uc010yis.1_Nonsense_Mutation_p.E317*|CMPK2_uc010ewv.2_Nonsense_Mutation_p.E317*	p.E317*	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			3	1058	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		317					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Nonsense_Mutation	SNP	ENST00000256722.5	37	c.949G>T	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802127	0.96960	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	.	.	.	5.42	5.42	0.78866	.	0.106811	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-16.0627	19.2026	0.93717	0.0:1.0:0.0:0.0	.	.	.	.	X	317	.	ENSP00000256722:E317X	E	-	1	0	CMPK2	6918809	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.742000	0.68646	2.535000	0.85469	0.563000	0.77884	GAA		PASS	0.403	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		13	51	13	51	---	---	---	---
APOB	338	broad.mit.edu	37	2	21247880	21247880	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:21247880G>A	ENST00000233242.1	-	16	2488	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A	APOB_ENST00000399256.4_Silent_p.A787A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	787					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A787A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGGAGACTGGCAAAACCAA	0.552																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2359-2361)GCC>GCT		apolipoprotein B precursor	Atorvastatin(DB01076)						88.0	91.0	90.0					2																	21247880		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21247880G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2361C>T	2.37:g.21247880G>A							p.A787A	NM_000384	NP_000375	P04114	APOB_HUMAN			16	2489	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		787					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2361C>T	CCDS1703.1																																																																																				PASS	0.552	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			22	61	22	61	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37241161	37241161	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:37241161T>A	ENST00000233099.5	-	27	4202	c.4107A>T	c.(4105-4107)gtA>gtT	p.V1369V	HEATR5B_ENST00000354531.2_Silent_p.V1369V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1369						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V1369V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTACTACATACCTAGACAA	0.333																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(4105-4107)GTA>GTT		HEAT repeat containing 5B							59.0	58.0	58.0					2																	37241161		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37241161T>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4107A>T	2.37:g.37241161T>A						HEATR5B_uc010ezy.1_5'UTR|HEATR5B_uc002rpq.3_5'UTR	p.V1369V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			27	4203	-		all_hematologic(82;0.21)	1369					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.4107A>T	CCDS33181.1																																																																																				PASS	0.333	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		30	52	30	52	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37265146	37265146	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:37265146G>A	ENST00000233099.5	-	21	3163	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	HEATR5B_ENST00000354531.2_Missense_Mutation_p.T1023I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1023						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.T1023I(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGAACGAATTGTAGAAGTTGT	0.363																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(3067-3069)ACA>ATA		HEAT repeat containing 5B							89.0	79.0	83.0					2																	37265146		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37265146G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3068C>T	2.37:g.37265146G>A	ENSP00000233099:p.Thr1023Ile						p.T1023I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			21	3164	-		all_hematologic(82;0.21)	1023					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.3068C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721792	0.68959	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.06687	3.27;3.27	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.58101	1.795	0.80722	D	1	B	0.31290	0.318	B	0.39027	0.288	T	0.03374	-1.1043	10	0.33940	T	0.23	-15.4762	18.6563	0.91455	0.0:0.0:1.0:0.0	.	1023	Q9P2D3	HTR5B_HUMAN	I	1023	ENSP00000233099:T1023I;ENSP00000346531:T1023I	ENSP00000233099:T1023I	T	-	2	0	HEATR5B	37118650	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	9.728000	0.98792	2.394000	0.81467	0.643000	0.83706	ACA		PASS	0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		14	42	14	42	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43514126	43514126	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:43514126A>G	ENST00000405006.4	-	35	5436	c.5085T>C	c.(5083-5085)ccT>ccC	p.P1695P	THADA_ENST00000415080.2_Silent_p.P1376P|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Silent_p.P1695P	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1695								p.P1695P(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TAGACTCTGTAGGAAGATGGT	0.493																																						uc002rsw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(5083-5085)CCT>CCC		thyroid adenoma associated							89.0	89.0	89.0					2																	43514126		2003	4180	6183	SO:0001819	synonymous_variant	63892						binding	g.chr2:43514126A>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5085T>C	2.37:g.43514126A>G						THADA_uc010far.2_Silent_p.P890P|THADA_uc002rsx.3_Silent_p.P1695P|THADA_uc002rsy.3_RNA	p.P1695P	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			35	5437	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1695					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.5085T>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	6.258	0.415659	0.11870	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.78	0.123	0.14709	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23655	-1.0182	4	.	.	.	.	1.5174	0.02509	0.4188:0.1742:0.281:0.126	.	.	.	.	P	935	.	.	L	-	2	0	THADA	43367630	0.995000	0.38212	0.966000	0.40874	0.459000	0.32528	0.486000	0.22340	0.006000	0.14734	-0.408000	0.06270	CTA		PASS	0.493	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		31	52	31	52	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873855	48873855	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:48873855C>T	ENST00000403751.3	+	6	689	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L184F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L922F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L922F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L922F|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L875F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L922F	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	218					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.L922F(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGTGATATACTTGTATCTCC	0.413																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2623-2625)CTT>TTT		stonin 1							110.0	99.0	103.0					2																	48873855		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873855C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.652C>T	2.37:g.48873855C>T	ENSP00000384597:p.Leu218Phe					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.L922F|GTF2A1L_uc002rws.1_Missense_Mutation_p.L218F|GTF2A1L_uc010yom.1_Missense_Mutation_p.L184F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.L218F	p.L875F	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2670	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	875					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2623C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	5.445	0.267278	0.10294	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.52057	2.77;2.76;2.77;2.77;3.04;0.68	5.14	1.63	0.23807	.	0.869322	0.09889	N	0.742618	T	0.41419	0.1158	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B	0.15141	0.01;0.001;0.001;0.012;0.003	B;B;B;B;B	0.14578	0.006;0.001;0.005;0.011;0.007	T	0.39292	-0.9621	10	0.54805	T	0.06	.	5.2305	0.15420	0.0:0.596:0.1782:0.2258	.	184;875;922;218;922	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	F	922;922;922;922;875;217;227;184;218	ENSP00000385499:L922F;ENSP00000385701:L922F;ENSP00000378236:L922F;ENSP00000311493:L922F;ENSP00000378234:L875F;ENSP00000396702:L227F	ENSP00000384597:L218F	L	+	1	0	STON1-GTF2A1L;GTF2A1L	48727359	0.000000	0.05858	0.001000	0.08648	0.249000	0.25844	-0.055000	0.11807	0.237000	0.21200	0.591000	0.81541	CTT		PASS	0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		22	69	22	69	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55786013	55786013	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:55786013A>G	ENST00000345102.5	-	16	2653	c.2352T>C	c.(2350-2352)aaT>aaC	p.N784N	SMEK2_ENST00000407823.3_Silent_p.N752N|SMEK2_ENST00000272313.5_Silent_p.N699N	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	784					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.N784N(1)|p.N699N(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTTGTTCCATTAGCAGCAC	0.438																																						uc002rzc.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2350-2352)AAT>AAC		SMEK homolog 2, suppressor of mek1 isoform 1							252.0	233.0	239.0					2																	55786013		2203	4300	6503	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55786013A>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.2352T>C	2.37:g.55786013A>G						SMEK2_uc002rzb.2_Silent_p.N699N|SMEK2_uc002rzd.2_Silent_p.N752N|SMEK2_uc002ryz.2_Silent_p.N211N|SMEK2_uc002rza.2_Silent_p.N568N	p.N784N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		16	2727	-			784					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.2352T>C	CCDS46289.1																																																																																				PASS	0.438	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		9	186	9	186	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60679756	60679756	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:60679756T>G	ENST00000356842.4	-	5	2504	c.2276A>C	c.(2275-2277)gAt>gCt	p.D759A	BCL11A_ENST00000537768.1_Missense_Mutation_p.D428A|BCL11A_ENST00000538214.1_Missense_Mutation_p.M776L|BCL11A_ENST00000359629.5_Missense_Mutation_p.M226L	NM_018014.3	NP_060484.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.M226L(1)|p.D759A(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGCCACACATCTTGAGCTCT	0.537			T	IGH@	B-CLL																																	uc010ypj.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2326-2328)ATG>CTG		B-cell CLL/lymphoma 11A isoform 1							92.0	97.0	95.0					2																	60679756		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679756T>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000356842.4:c.2276A>C	2.37:g.60679756T>G	ENSP00000349300:p.Asp759Ala					BCL11A_uc002sab.2_Missense_Mutation_p.D759A|BCL11A_uc002sac.2_Missense_Mutation_p.M226L|BCL11A_uc010ypi.1_Missense_Mutation_p.D428A	p.M776L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2554	-			Error:Variant_position_missing_in_Q9H165_after_alignment					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000356842.4	37	c.2326A>C	CCDS1861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.036|6.036	0.374948|0.374948	0.11409|0.11409	.|.	.|.	ENSG00000119866|ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000537768|ENST00000359629;ENST00000538214	T;T|T	0.07216|0.04706	3.21;3.34|3.57	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	T|T	0.12390|0.12390	0.0301|0.0301	.|.	.|.	.|.	0.32348|0.32348	N|N	0.558873|0.558873	P;D|B;B	0.54601|0.29805	0.909;0.967|0.011;0.257	P;P|B;P	0.59424|0.44623	0.857;0.857|0.084;0.455	T|T	0.03184|0.03184	-1.1063|-1.1063	8|8	0.46703|0.54805	T|T	0.11|0.06	.|.	14.9347|14.9347	0.70944|0.70944	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	428;759|776;226	B4DT16;D9YZV9|F5H2Y4;Q9H165-3	.;.|.;.	A|L	759;784;428|226;776	ENSP00000349300:D759A;ENSP00000443712:D428A|ENSP00000438303:M776L	ENSP00000349300:D759A|ENSP00000352648:M226L	D|M	-|-	2|1	0|0	BCL11A|BCL11A	60533260|60533260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.896000|4.896000	0.63222|0.63222	2.267000|2.267000	0.75376|0.75376	0.528000|0.528000	0.53228|0.53228	GAT|ATG		PASS	0.537	BCL11A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251578.3	NM_022893		8	148	8	148	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449632	62449632	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:62449632C>T	ENST00000301998.4	+	2	529	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	B3GNT2_ENST00000405767.1_Silent_p.L93L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	93					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.L93L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TATAAGCCATCTGAACTACTG	0.532																																						uc002sbs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(277-279)CTG>TTG		UDP-GlcNAc:betaGal							244.0	276.0	265.0					2																	62449632		2203	4300	6503	SO:0001819	synonymous_variant	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449632C>T	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.277C>T	2.37:g.62449632C>T							p.L93L	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	515	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		93			Lumenal (Potential).		Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Silent	SNP	ENST00000301998.4	37	c.277C>T	CCDS1870.1																																																																																				PASS	0.532	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		160	214	160	214	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79312409	79312409	+	Splice_Site	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:79312409C>A	ENST00000305089.3	-	6	514	c.434G>T	c.(433-435)gGa>gTa	p.G145V		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.G145V(1)|p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TTTCTTGAATCCTATGGTACA	0.398																																						uc002sny.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(433-435)GGA>GTA		regenerating islet-derived 1 beta precursor							74.0	71.0	72.0					2																	79312409		2203	4300	6503	SO:0001630	splice_region_variant	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312409C>A		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.434-1G>T	2.37:g.79312409C>A							p.G145V	NM_006507	NP_006498	P48304	REG1B_HUMAN			6	546	-			145			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.434G>T	CCDS1963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	4.523|4.523	0.096988|0.096988	0.08681|0.08681	.|.	.|.	ENSG00000172023|ENSG00000172023	ENST00000454188|ENST00000305089	T|T	0.07567|0.18810	3.18|2.19	3.28|3.28	1.42|1.42	0.22433|0.22433	.|C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.|0.493819	.|0.15257	.|N	.|0.271994	T|T	0.49115|0.49115	0.1538|0.1538	M|M	0.93241|0.93241	3.395|3.395	0.32728|0.32728	N|N	0.509446|0.509446	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.57260|0.57260	-0.7842|-0.7842	7|10	0.30854|0.59425	T|D	0.27|0.04	.|.	4.8121|4.8121	0.13349|0.13349	0.0:0.7012:0.0:0.2988|0.0:0.7012:0.0:0.2988	.|.	.|145	.|P48304	.|REG1B_HUMAN	Y|V	125|145	ENSP00000387410:D125Y|ENSP00000303206:G145V	ENSP00000387410:D125Y|ENSP00000303206:G145V	D|G	-|-	1|2	0|0	REG1B|REG1B	79165917|79165917	0.127000|0.127000	0.22367|0.22367	0.132000|0.132000	0.22025|0.22025	0.189000|0.189000	0.23516|0.23516	0.211000|0.211000	0.17474|0.17474	0.703000|0.703000	0.31848|0.31848	0.484000|0.484000	0.47621|0.47621	GAT|GGA		PASS	0.398	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507	Missense_Mutation	24	21	24	21	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992653	96992653	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:96992653C>T	ENST00000439118.2	+	3	535	c.284C>T	c.(283-285)cCg>cTg	p.P95L	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.P103L|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.P87L|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.P87L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	95						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P103L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGGGGTGGCCGTTCCAGGCC	0.572																																						uc002svx.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	central_nervous_system(2)|ovary(1)	3						c.(283-285)CCG>CTG		inositol 1,4,5-triphosphate receptor interacting							92.0	100.0	97.0					2																	96992653		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96992653C>T		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.284C>T	2.37:g.96992653C>T	ENSP00000389308:p.Pro95Leu					ITPRIPL1_uc010yuk.1_Missense_Mutation_p.P87L|ITPRIPL1_uc002svy.2_Missense_Mutation_p.P103L|ITPRIPL1_uc010yul.1_Missense_Mutation_p.P87L	p.P95L	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	619	+			95			Extracellular (Potential).		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.284C>T	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.573|8.573	0.880528|0.880528	0.17467|0.17467	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	T;T;T;T|.	0.17528|.	2.29;2.29;2.27;2.29|.	4.89|4.89	3.99|3.99	0.46301|0.46301	.|.	0.000000|.	0.34628|.	N|.	0.003815|.	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.14661|0.14661	0.345|0.345	0.27844|0.27844	N|N	0.940995|0.940995	B;B|.	0.26400|.	0.148;0.091|.	B;B|.	0.19148|.	0.024;0.01|.	T|T	0.08330|0.08330	-1.0727|-1.0727	10|5	0.44086|.	T|.	0.13|.	-12.5679|-12.5679	6.344|6.344	0.21339|0.21339	0.1817:0.7241:0.0:0.0942|0.1817:0.7241:0.0:0.0942	.|.	103;95|.	Q6GPH6-2;Q6GPH6|.	.;IPIL1_HUMAN|.	L|C	87;87;95;103;87|127	ENSP00000439566:P87L;ENSP00000389308:P95L;ENSP00000355121:P103L;ENSP00000438212:P87L|.	ENSP00000355121:P103L|.	P|R	+|+	2|1	0|0	ITPRIPL1|ITPRIPL1	96356380|96356380	0.039000|0.039000	0.19947|0.19947	0.921000|0.921000	0.36526|0.36526	0.662000|0.662000	0.39071|0.39071	0.367000|0.367000	0.20382|0.20382	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	CCG|CGT		PASS	0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		16	32	16	32	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98844703	98844703	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:98844703G>A	ENST00000477737.1	+	15	2262	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	686								p.Q686Q(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATGGAACAGGGTCACAGTG	0.398																																						uc002syo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(2056-2058)CAG>CAA		von Willebrand factor A domain containing 3B							107.0	108.0	108.0					2																	98844703		1990	4159	6149	SO:0001819	synonymous_variant	200403							g.chr2:98844703G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2058G>A	2.37:g.98844703G>A						VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.Q205Q|VWA3B_uc002sym.2_Silent_p.Q686Q|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.Q343Q|VWA3B_uc002syp.1_Silent_p.Q78Q|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Silent_p.Q3Q	p.Q686Q	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			15	2322	+			686					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.2058G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.359961	0.01245	.	.	ENSG00000168658	ENST00000473149	.	.	.	5.8	3.05	0.35203	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55835	-0.8078	4	.	.	.	.	12.1973	0.54305	0.2125:0.0:0.7875:0.0	.	.	.	.	R	97	.	.	G	+	1	0	VWA3B	98211135	1.000000	0.71417	0.985000	0.45067	0.009000	0.06853	1.151000	0.31651	0.109000	0.17891	-1.595000	0.00837	GGG		PASS	0.398	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		19	51	19	51	---	---	---	---
PDCL3	79031	broad.mit.edu	37	2	101185427	101185428	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:101185427_101185428GG>TT	ENST00000264254.6	+	3	546_547	c.168_169GG>TT	c.(166-171)ctGGag>ctTTag	p.E57*		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	57					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.E57*(2)|p.L56L(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGGAAGAGCTGGAGGATCATGA	0.361																																						uc002tao.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(166-168)CTG>CTT|c.(169-171)GAG>TAG		phosducin-like 3																																				SO:0001587	stop_gained	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101185427G>T|g.chr2:101185428G>T	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	Exception_encountered	2.37:g.101185427_101185428delinsTT	ENSP00000264254:p.Glu57*						p.L56L|p.E57*	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			3	280|281	+			56|57					B2RA00|Q53S68	Silent|Nonsense_Mutation	SNP	ENST00000264254.6	37	c.168G>T|c.169G>T	CCDS33261.1																																																																																				PASS	0.361	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		20|19	53	19	53	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128346007	128346007	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:128346007C>A	ENST00000409816.2	+	14	1763	c.1731C>A	c.(1729-1731)atC>atA	p.I577I	MYO7B_ENST00000389524.4_Silent_p.I577I|MYO7B_ENST00000428314.1_Silent_p.I577I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	577	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I577I(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCACAGATATCCTCACCCTGG	0.557																																						uc002top.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1729-1731)ATC>ATA		myosin VIIB							61.0	66.0	64.0					2																	128346007		1962	4154	6116	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128346007C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1731C>A	2.37:g.128346007C>A							p.I577I	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	15	1784	+	Colorectal(110;0.1)		577			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.1731C>A	CCDS46405.1																																																																																				PASS	0.557	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		11	21	11	21	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141250260	141250260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:141250260C>A	ENST00000389484.3	-	57	10008	c.9037G>T	c.(9037-9039)Gaa>Taa	p.E3013*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3013					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.E3013*(1)|p.E3013K(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)		AAAGGTTCTTCATCTAAACAC	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|skin(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9037-9039)GAA>TAA		low density lipoprotein-related protein 1B							154.0	140.0	145.0					2																	141250260		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141250260C>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.9037G>T	2.37:g.141250260C>A	ENSP00000374135:p.Glu3013*	TSP Lung(27;0.18)					p.E3013*	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)	57	10009	-		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)	3013			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9037G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	55	24.210693	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	.	.	.	X	3013;2951	.	ENSP00000374135:E3013X	E	-	1	0	LRP1B	140966730	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.525000	0.81892	2.373000	0.80994	0.460000	0.39030	GAA		PASS	0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	47	16	47	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149226852	149226852	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:149226852G>A	ENST00000407073.1	+	9	2337	c.1340G>A	c.(1339-1341)gGg>gAg	p.G447E	MBD5_ENST00000404807.1_Missense_Mutation_p.G447E	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	447					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.G447E(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)		CACATGATGGGGACTGGAATT	0.507																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1339-1341)GGG>GAG		methyl-CpG binding domain protein 5							74.0	68.0	70.0					2																	149226852		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226852G>A	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.1340G>A	2.37:g.149226852G>A	ENSP00000386049:p.Gly447Glu					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G447E|MBD5_uc002twn.1_5'Flank	p.G447E	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2328	+			447					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1340G>A	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.354572|1.354572	0.24512|0.24512	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|T	0.57752|0.59083	0.4;0.38|0.29	5.18|5.18	4.31|4.31	0.51392|0.51392	.|.	0.100935|0.100935	0.44097|0.44097	N|D	0.000495|0.000495	T|T	0.40909|0.40909	0.1136|0.1136	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999975|0.999975	B|.	0.12630|.	0.006|.	B|.	0.15052|.	0.012|.	T|T	0.18650|0.18650	-1.0330|-1.0330	10|8	0.62326|0.06891	D|T	0.03|0.86	-3.0429|-3.0429	10.8899|10.8899	0.46990|0.46990	0.0722:0.198:0.7298:0.0|0.0722:0.198:0.7298:0.0	.|.	447|.	Q9P267|.	MBD5_HUMAN|.	E|R	447|187	ENSP00000386049:G447E;ENSP00000384672:G447E|ENSP00000393168:G187R	ENSP00000384672:G447E|ENSP00000393168:G187R	G|G	+|+	2|1	0|0	MBD5|MBD5	148943322|148943322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.875000|3.875000	0.56108|0.56108	1.337000|1.337000	0.45525|0.45525	-0.140000|-0.140000	0.14226|0.14226	GGG|GGA		PASS	0.507	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			16	30	16	30	---	---	---	---
TANK	10010	broad.mit.edu	37	2	162036186	162036186	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:162036186A>G	ENST00000392749.2	+	2	252	c.13A>G	c.(13-15)Att>Gtt	p.I5V	TANK_ENST00000403609.1_Missense_Mutation_p.I5V|TANK_ENST00000457476.1_Missense_Mutation_p.I5V|TANK_ENST00000406287.1_Missense_Mutation_p.I63V|TANK_ENST00000259075.2_Missense_Mutation_p.I5V|TANK_ENST00000402568.1_Missense_Mutation_p.I63V|TANK_ENST00000405852.1_Missense_Mutation_p.I5V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	5					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.I5V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GGATAAAAACATTGGCGAGCA	0.393																																						uc002ubr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)ATT>GTT		TRAF interacting protein TANK isoform a							114.0	104.0	107.0					2																	162036186		2203	4300	6503	SO:0001583	missense	10010					cytosol	metal ion binding|protein binding	g.chr2:162036186A>G	U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.13A>G	2.37:g.162036186A>G	ENSP00000376505:p.Ile5Val					TANK_uc002ubq.1_Missense_Mutation_p.I5V|TANK_uc002ubs.2_Missense_Mutation_p.I5V	p.I5V	NM_004180	NP_004171	Q92844	TANK_HUMAN			2	171	+			5					D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	c.13A>G	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208542	0.58343	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.39997	1.53;1.53;1.96;1.05;1.96	6.04	6.04	0.98038	.	0.051446	0.85682	D	0.000000	T	0.37404	0.1002	L	0.34521	1.04	0.45239	D	0.998242	B;B	0.25809	0.121;0.135	B;B	0.27500	0.046;0.08	T	0.18871	-1.0323	10	0.72032	D	0.01	-12.8508	16.2378	0.82389	1.0:0.0:0.0:0.0	.	5;5	Q92844;Q7Z4J6	TANK_HUMAN;.	V	5;5;5;5;5;5;63;63;5;31;5	ENSP00000259075:I5V;ENSP00000376505:I5V;ENSP00000384492:I63V;ENSP00000385487:I5V;ENSP00000392776:I31V	ENSP00000259075:I5V	I	+	1	0	TANK	161744432	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.335000	0.65929	2.317000	0.78254	0.459000	0.35465	ATT		PASS	0.393	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484		14	48	14	48	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425815	179425815	+	Silent	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:179425815A>T	ENST00000591111.1	-	276	80345	c.80121T>A	c.(80119-80121)gtT>gtA	p.V26707V	TTN_ENST00000342992.6_Silent_p.V25780V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V28348V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V19283V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V19475V|TTN_ENST00000359218.5_Silent_p.V19408V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26707	Fibronectin type-III 94. {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.V19475V(1)|p.V19408V(1)|p.V25778V(1)|p.V19283V(1)|p.V25780V(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)			CATCATCTTTAACTATAATAG	0.423																																						uc010zfg.1																			5	Substitution - coding silent(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.(77338-77340)GTT>GTA		titin isoform N2-A							122.0	121.0	121.0					2																	179425815		1904	4104	6008	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425815A>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.80121T>A	2.37:g.179425815A>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V19475V|TTN_uc010zfi.1_Silent_p.V19408V|TTN_uc010zfj.1_Silent_p.V19283V	p.V25780V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77564	-			26707					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.77340T>A																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	104	39	104	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437674	179437674	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:179437674A>G	ENST00000591111.1	-	276	68486	c.68262T>C	c.(68260-68262)taT>taC	p.Y22754Y	TTN_ENST00000342992.6_Silent_p.Y21827Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Y24395Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Y15330Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y15522Y|TTN_ENST00000359218.5_Silent_p.Y15455Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22754	Fibronectin type-III 65. {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.Y21825Y(1)|p.Y15522Y(1)|p.Y21827Y(1)|p.Y15455Y(1)|p.Y15330Y(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)			TGCGGATCTTATATTCCTGAT	0.493																																						uc010zfg.1																			5	Substitution - coding silent(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.(65479-65481)TAT>TAC		titin isoform N2-A							78.0	80.0	79.0					2																	179437674		1989	4148	6137	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437674A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68262T>C	2.37:g.179437674A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y15522Y|TTN_uc010zfi.1_Silent_p.Y15455Y|TTN_uc010zfj.1_Silent_p.Y15330Y	p.Y21827Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65705	-			22754					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.65481T>C																																																																																					PASS	0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	22	11	22	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497021	179497022	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:179497021_179497022GG>TT	ENST00000591111.1	-	186	38900_38901	c.38676_38677CC>AA	c.(38674-38679)gaCCag>gaAAag	p.12892_12893DQ>EK	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.11965_11966DQ>EK|TTN_ENST00000589042.1_Missense_Mutation_p.14533_14534DQ>EK|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.5468_5469DQ>EK|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.5660_5661DQ>EK|TTN_ENST00000359218.5_Missense_Mutation_p.5593_5594DQ>EK			Q8WZ42	TITIN_HUMAN	titin	12892					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.Q11966K(2)|p.D11965_Q11966>EK(2)|p.D11965E(2)|p.D5468E(1)|p.D5660E(1)|p.D5593_Q5594>EK(1)|p.D5593E(1)|p.D5660_Q5661>EK(1)|p.Q5594K(1)|p.D5468_Q5469>EK(1)|p.Q5661K(1)|p.Q5469K(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)			TGTAGGCGCTGGTCATTCTTGA	0.436																																						uc010zfg.1																			15	Substitution - Missense(10)|Complex - compound substitution(5)		lung(15)	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.(35896-35898)CAG>AAG|c.(35893-35895)GAC>GAA		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497021G>T|g.chr2:179497022G>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.38676_38677delinsTT	2.37:g.179497021_179497022delinsTT	ENSP00000465570:p.D12892_Q12893delinsEK					TTN_uc010zfh.1_Missense_Mutation_p.Q5661K|TTN_uc010zfi.1_Missense_Mutation_p.Q5594K|TTN_uc010zfj.1_Missense_Mutation_p.Q5469K|TTN_uc010zfh.1_Missense_Mutation_p.D5660E|TTN_uc010zfi.1_Missense_Mutation_p.D5593E|TTN_uc010zfj.1_Missense_Mutation_p.D5468E	p.Q11966K|p.D11965E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		185	36120|36119	-			12893|12892					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.35896C>A|c.35895C>A																																																																																					PASS	0.436	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	13|14	5	13	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179556764	179556764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:179556764C>A	ENST00000591111.1	-	119	31014	c.30790G>T	c.(30790-30792)Gaa>Taa	p.E10264*	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E9337*|TTN_ENST00000589042.1_Nonsense_Mutation_p.E10581*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_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.E9337*(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)			GCAGCAGGTTCCTTCTTAGGC	0.453																																						uc010zfg.1																			1	Substitution - Nonsense(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.(28009-28011)GAA>TAA		titin isoform N2-A							94.0	93.0	93.0					2																	179556764		1881	4121	6002	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179556764C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30790G>T	2.37:g.179556764C>A	ENSP00000465570:p.Glu10264*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E5998*|TTN_uc010fre.1_Nonsense_Mutation_p.E448*	p.E9337*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		118	28233	-			10264					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.28009G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.667558	0.96745	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7343	0.46115	0.0:0.8786:0.0:0.1214	.	.	.	.	X	9337;459;91	.	ENSP00000343764:E9337X	E	-	1	0	TTN	179265009	0.990000	0.36364	0.993000	0.49108	0.992000	0.81027	3.077000	0.50089	2.556000	0.86216	0.557000	0.71058	GAA		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	27	15	27	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179588731	179588731	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:179588731G>T	ENST00000591111.1	-	71	20528	c.20304C>A	c.(20302-20304)gtC>gtA	p.V6768V	TTN_ENST00000342992.6_Silent_p.V5841V|TTN_ENST00000589042.1_Silent_p.V7085V|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12375	Ig-like 49.				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.V5841V(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)			TTGCTCCACTGACAATCTTGG	0.433																																						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.(17521-17523)GTC>GTA		titin isoform N2-A							101.0	96.0	98.0					2																	179588731		1930	4144	6074	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588731G>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.20304C>A	2.37:g.179588731G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V2502V	p.V5841V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		70	17747	-			6768					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.17523C>A																																																																																					PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	46	22	46	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190927155	190927155	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:190927155A>C	ENST00000260950.4	-	1	300	c.168T>G	c.(166-168)atT>atG	p.I56M	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	56					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.I56M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTGTATCTTAATGGCTTCTA	0.388																																						uc002urp.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(166-168)ATT>ATG		myostatin precursor							177.0	175.0	175.0					2																	190927155		2203	4300	6503	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927155A>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.168T>G	2.37:g.190927155A>C	ENSP00000260950:p.Ile56Met						p.I56M	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	301	-			56					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.168T>G	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585947	0.46110	.	.	ENSG00000138379	ENST00000260950	T	0.68331	-0.32	5.64	3.21	0.36854	Transforming growth factor-beta, N-terminal (1);	0.086883	0.85682	D	0.000000	T	0.79197	0.4405	M	0.79614	2.46	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.80513	-0.1349	10	0.87932	D	0	-22.581	9.897	0.41324	0.1123:0.0:0.1253:0.7624	.	56	O14793	GDF8_HUMAN	M	56	ENSP00000260950:I56M	ENSP00000260950:I56M	I	-	3	3	MSTN	190635400	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.037000	0.30241	1.138000	0.42230	-0.309000	0.09137	ATT		PASS	0.388	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		17	45	17	45	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196825422	196825422	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:196825422G>A	ENST00000312428.6	-	18	2553	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	818	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P818L(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						CAATGCATATGGAGAATCATG	0.393																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(2452-2454)CCA>CTA		dynein, axonemal, heavy chain 7							165.0	159.0	161.0					2																	196825422		1860	4099	5959	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825422G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2453C>T	2.37:g.196825422G>A	ENSP00000311273:p.Pro818Leu						p.P818L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2554	-			818			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2453C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524306	0.85600	.	.	ENSG00000118997	ENST00000312428	T	0.25250	1.81	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.73217	2.22	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	T	0.48445	-0.9035	10	0.52906	T	0.07	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	818	Q8WXX0	DYH7_HUMAN	L	818	ENSP00000311273:P818L	ENSP00000311273:P818L	P	-	2	0	DNAH7	196533667	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	9.675000	0.98638	2.708000	0.92522	0.650000	0.86243	CCA		PASS	0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		25	91	25	91	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197521505	197521505	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:197521505A>T	ENST00000389175.4	+	3	460	c.325A>T	c.(325-327)Agc>Tgc	p.S109C	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.S6C	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	109								p.S109C(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGTCTTGAAAGCCTCATGCA	0.373																																						uc002utp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)AGC>TGC		coiled-coil domain containing 150							119.0	115.0	117.0					2																	197521505		1851	4100	5951	SO:0001583	missense	284992							g.chr2:197521505A>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.325A>T	2.37:g.197521505A>T	ENSP00000373827:p.Ser109Cys					CCDC150_uc002uto.1_Missense_Mutation_p.S109C|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.S109C	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			3	460	+			109			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.325A>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560496	0.65538	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.32023	1.47;1.47	5.03	3.88	0.44766	.	0.120084	0.52532	D	0.000076	T	0.42268	0.1195	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.992;0.985	P;P	0.57620	0.789;0.824	T	0.32508	-0.9904	10	0.87932	D	0	-1.518	9.8872	0.41268	0.9185:0.0:0.0815:0.0	.	109;109	Q8NCX0;F5H6M2	CC150_HUMAN;.	C	109;109;6	ENSP00000373827:S109C;ENSP00000441149:S6C	ENSP00000373827:S109C	S	+	1	0	CCDC150	197229750	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.113000	0.57851	0.959000	0.37980	0.533000	0.62120	AGC		PASS	0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		23	64	23	64	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211541783	211541783	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:211541783A>G	ENST00000233072.5	+	37	4523	c.4327A>G	c.(4327-4329)Act>Gct	p.T1443A	CPS1_ENST00000451903.2_Missense_Mutation_p.T992A|CPS1_ENST00000430249.2_Missense_Mutation_p.T1449A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1443			T -> A (in CPS1D). {ECO:0000269|PubMed:16737834}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.T1449A(1)|p.T1443A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAACAACAACACTAAATTTGT	0.348																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13	GRCh37	CM063921	CPS1	M		c.(4327-4329)ACT>GCT		carbamoyl-phosphate synthetase 1 isoform b							187.0	180.0	182.0					2																	211541783		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211541783A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4327A>G	2.37:g.211541783A>G	ENSP00000233072:p.Thr1443Ala					CPS1_uc010fur.2_Missense_Mutation_p.T1449A|CPS1_uc010fus.2_Missense_Mutation_p.T992A	p.T1443A	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	37	4459	+			1443					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.4327A>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396894	0.25205	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.81330	-1.48;-1.48;-1.48	5.54	5.54	0.83059	Methylglyoxal synthase-like domain (4);	0.101061	0.64402	D	0.000003	T	0.77565	0.4149	L	0.39633	1.23	0.48511	D	0.999662	P;P	0.43231	0.801;0.801	P;P	0.48089	0.566;0.566	T	0.73490	-0.3966	10	0.07482	T	0.82	-13.5289	15.667	0.77238	1.0:0.0:0.0:0.0	.	1453;1443	Q59HF8;P31327	.;CPSM_HUMAN	A	1449;1451;1443;992	ENSP00000402608:T1449A;ENSP00000233072:T1443A;ENSP00000406136:T992A	ENSP00000233072:T1443A	T	+	1	0	CPS1	211250028	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	8.383000	0.90157	2.104000	0.64026	0.260000	0.18958	ACT		PASS	0.348	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			22	92	22	92	---	---	---	---
KIF1A	547	broad.mit.edu	37	2	241656788	241656788	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr2:241656788C>T	ENST00000320389.7	-	47	5224	c.5066G>A	c.(5065-5067)cGg>cAg	p.R1689Q	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1790Q	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1689					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1689Q(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTTCAGACCCGCATCTGGGC	0.662																																						uc002vzy.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(5065-5067)CGG>CAG		axonal transport of synaptic vesicles							54.0	69.0	64.0					2																	241656788		2103	4213	6316	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241656788C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5066G>A	2.37:g.241656788C>T	ENSP00000322791:p.Arg1689Gln					KIF1A_uc010fzk.2_Missense_Mutation_p.R1790Q|KIF1A_uc002vzw.2_Missense_Mutation_p.R350Q|KIF1A_uc002vzx.2_Missense_Mutation_p.R416Q	p.R1689Q	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5212	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1689					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5066G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	31	5.086403	0.94100	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73152	-0.64;-0.72	4.47	4.47	0.54385	.	0.183716	0.44285	U	0.000477	T	0.76456	0.3990	L	0.29908	0.895	0.40527	D	0.980891	D;P	0.76494	0.999;0.824	D;B	0.71870	0.975;0.116	T	0.80453	-0.1376	10	0.62326	D	0.03	.	17.4671	0.87635	0.0:1.0:0.0:0.0	.	1790;1689	F5H045;Q12756	.;KIF1A_HUMAN	Q	1689;1790;1798	ENSP00000322791:R1689Q;ENSP00000438388:R1790Q	ENSP00000322791:R1689Q	R	-	2	0	KIF1A	241305461	1.000000	0.71417	0.985000	0.45067	0.916000	0.54674	5.839000	0.69395	2.189000	0.69895	0.563000	0.77884	CGG		PASS	0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		10	17	10	17	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4683776	4683776	+	Splice_Site	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:4683776G>T	ENST00000443694.2	+	5	366		c.e5-1		ITPR1_ENST00000423119.2_Splice_Site|ITPR1_ENST00000456211.2_Splice_Site|ITPR1_ENST00000354582.6_Splice_Site|ITPR1_ENST00000544951.1_Splice_Site|ITPR1_ENST00000302640.8_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|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)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGGGTTTTTAGCTCCTGCATT	0.408																																						uc003bqa.2																			3	Unknown(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.e7-1		inositol 1,4,5-triphosphate receptor, type 1							67.0	68.0	68.0					3																	4683776		1848	4094	5942	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4683776G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.367-1G>T	3.37:g.4683776G>T						ITPR1_uc010hbz.2_Splice_Site_p.L123_splice|ITPR1_uc010hca.1_Splice_Site_p.L123_splice|ITPR1_uc011asu.1_Splice_Site_p.L123_splice|ITPR1_uc010hcb.1_Splice_Site_p.L123_splice	p.L123_splice	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	7	715	+								E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.367_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744580	0.69418	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9464	0.92623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPR1	4658776	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	9.699000	0.98703	2.465000	0.83290	0.655000	0.94253	.		PASS	0.408	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Intron	25	27	25	27	---	---	---	---
SLC6A6	6533	broad.mit.edu	37	3	14489188	14489188	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:14489188A>G	ENST00000454876.2	+	5	792	c.463A>G	c.(463-465)Aag>Gag	p.K155E	SLC6A6_ENST00000416216.2_Missense_Mutation_p.K155E|SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.K155E			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	155					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.K155E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTCCTTCCAGAAGGAGCTGCC	0.542																																						uc010heg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)AAG>GAG		solute carrier family 6 (neurotransmitter							285.0	250.0	262.0					3																	14489188		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489188A>G		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.463A>G	3.37:g.14489188A>G	ENSP00000398063:p.Lys155Glu					SLC6A6_uc003byp.2_Missense_Mutation_p.K155E|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Missense_Mutation_p.K155E|SLC6A6_uc003byr.2_RNA	p.K155E	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			12	754	+			155			Extracellular (Potential).		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.463A>G	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522465	0.44866	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.74106	-0.81;-0.81;-0.81	4.89	0.877	0.19145	.	0.572568	0.19557	N	0.111422	T	0.49423	0.1556	N	0.14661	0.345	0.24477	N	0.994366	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	10	0.44086	T	0.13	.	1.6421	0.02754	0.4388:0.1288:0.0841:0.3483	.	155	P31641	SC6A6_HUMAN	E	155	ENSP00000398063:K155E;ENSP00000354107:K155E;ENSP00000401167:K155E	ENSP00000354107:K155E	K	+	1	0	SLC6A6	14464192	0.467000	0.25831	0.988000	0.46212	0.955000	0.61496	1.147000	0.31602	-0.086000	0.12550	0.332000	0.21555	AAG		PASS	0.542	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		56	141	56	141	---	---	---	---
CCDC174	51244	broad.mit.edu	37	3	14695956	14695956	+	Silent	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:14695956C>G	ENST00000383794.3	+	2	139	c.66C>G	c.(64-66)ctC>ctG	p.L22L	CCDC174_ENST00000303688.7_Silent_p.L22L	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	22						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L22L(1)									AGGCTGAACTCTTCCGAAAGC	0.299																																						uc003byw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CTC>CTG		hypothetical protein LOC51244							34.0	33.0	33.0					3																	14695956		1780	4052	5832	SO:0001819	synonymous_variant	51244							g.chr3:14695956C>G	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.66C>G	3.37:g.14695956C>G						C3orf19_uc010hei.1_Silent_p.L22L	p.L22L	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			2	157	+			22					Q96CS5	Silent	SNP	ENST00000383794.3	37	c.66C>G	CCDS2620.2																																																																																				PASS	0.299	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		4	22	4	22	---	---	---	---
AZI2	64343	broad.mit.edu	37	3	28373873	28373873	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:28373873G>C	ENST00000479665.1	-	6	1165	c.634C>G	c.(634-636)Cta>Gta	p.L212V	AZI2_ENST00000420543.2_Missense_Mutation_p.L212V|AZI2_ENST00000334100.6_Missense_Mutation_p.L212V|AZI2_ENST00000457172.1_Missense_Mutation_p.L212V|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	212					dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)		p.L212V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAATGCTTAGTTTTTGGAGA	0.313																																						uc003ceb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(634-636)CTA>GTA		5-azacytidine induced 2 isoform a							197.0	183.0	188.0					3																	28373873		2203	4300	6503	SO:0001583	missense	64343					mitochondrion|plasma membrane		g.chr3:28373873G>C	AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.634C>G	3.37:g.28373873G>C	ENSP00000419371:p.Leu212Val					AZI2_uc003cec.2_Missense_Mutation_p.L100V|AZI2_uc003ced.2_Missense_Mutation_p.L212V|AZI2_uc003cee.3_Missense_Mutation_p.L212V|AZI2_uc003ceg.2_Missense_Mutation_p.L212V|AZI2_uc011axd.1_Missense_Mutation_p.L212V|AZI2_uc003cef.2_Missense_Mutation_p.L212V	p.L212V	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN			6	1166	-			212			Interaction with TBK1.		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	ENST00000479665.1	37	c.634C>G	CCDS2647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.763|0.763	-0.768513|-0.768513	0.02974|0.02974	.|.	.|.	ENSG00000163512|ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162|ENST00000429369	.|.	.|.	.|.	5.19|5.19	2.31|2.31	0.28768|0.28768	Tbk1/Ikki binding domain (1);|.	1.108040|.	0.06778|.	N|.	0.784767|.	T|T	0.34019|0.34019	0.0883|0.0883	L|L	0.44542|0.44542	1.39|1.39	0.20873|0.20873	N|N	0.999838|0.999838	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.06405|.	0.001;0.002;0.001;0.002|.	T|T	0.25363|0.25363	-1.0134|-1.0134	9|5	0.25751|.	T|.	0.34|.	-9.2908|-9.2908	3.573|3.573	0.07923|0.07923	0.0923:0.1688:0.5641:0.1747|0.0923:0.1688:0.5641:0.1747	.|.	212;212;212;212|.	Q9H6S1-3;C9JB40;C9JVK8;Q9H6S1|.	.;.;.;AZI2_HUMAN|.	V|S	212|9	.|.	ENSP00000335609:L212V|.	L|T	-|-	1|2	2|0	AZI2|AZI2	28348877|28348877	0.092000|0.092000	0.21681|0.21681	0.913000|0.913000	0.36048|0.36048	0.996000|0.996000	0.88848|0.88848	0.181000|0.181000	0.16880|0.16880	0.168000|0.168000	0.19655|0.19655	0.650000|0.650000	0.86243|0.86243	CTA|ACT		PASS	0.313	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252998.2	NM_203326		25	27	25	27	---	---	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713401	30713401	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:30713401G>A	ENST00000295754.5	+	4	1108	c.726G>A	c.(724-726)ctG>ctA	p.L242L	TGFBR2_ENST00000359013.4_Silent_p.L267L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	242					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.L242L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAGAGCTGCTGCCCATTGAGC	0.537																																						uc003ceo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(724-726)CTG>CTA		transforming growth factor, beta receptor II							111.0	89.0	96.0					3																	30713401		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713401G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.726G>A	3.37:g.30713401G>A						TGFBR2_uc003cen.2_Silent_p.L267L	p.L242L	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1108	+			242			Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.726G>A	CCDS2648.1																																																																																				PASS	0.537	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			29	19	29	19	---	---	---	---
SUSD5	26032	broad.mit.edu	37	3	33195275	33195275	+	Silent	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:33195275T>C	ENST00000309558.3	-	5	1266	c.849A>G	c.(847-849)tcA>tcG	p.S283S		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	283					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.S283S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTGATCCTGGTGAATCTGCGG	0.537																																						uc003cfo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(847-849)TCA>TCG		sushi domain containing 5 precursor							47.0	47.0	47.0					3																	33195275		1922	4129	6051	SO:0001819	synonymous_variant	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195275T>C	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.849A>G	3.37:g.33195275T>C							p.S283S	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1267	-			283			Extracellular (Potential).			Silent	SNP	ENST00000309558.3	37	c.849A>G	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.473544	0.01044	.	.	ENSG00000173705	ENST00000412539	.	.	.	6.02	0.482	0.16815	.	.	.	.	.	T	0.20780	0.0500	.	.	.	0.28628	N	0.907815	.	.	.	.	.	.	T	0.22941	-1.0202	4	.	.	.	-1.3331	1.2339	0.01949	0.3274:0.3108:0.2055:0.1564	.	.	.	.	R	219	.	.	H	-	2	0	SUSD5	33170279	0.077000	0.21312	0.023000	0.16930	0.013000	0.08279	-0.552000	0.06020	0.443000	0.26582	-0.132000	0.14878	CAC		PASS	0.537	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		26	19	26	19	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35730842	35730842	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:35730842C>A	ENST00000187397.4	+	7	906	c.450C>A	c.(448-450)caC>caA	p.H150Q	ARPP21_ENST00000417925.1_Missense_Mutation_p.H150Q|ARPP21_ENST00000337271.5_Missense_Mutation_p.H150Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.H150Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.H150Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	150					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.H150Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TAGACTTACACGAGTTTCTGA	0.353																																						uc003cgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(448-450)CAC>CAA		cyclic AMP-regulated phosphoprotein, 21 kD							81.0	81.0	81.0					3																	35730842		2203	4299	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35730842C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.450C>A	3.37:g.35730842C>A	ENSP00000187397:p.His150Gln					ARPP21_uc003cga.2_Missense_Mutation_p.H150Q|ARPP21_uc011axy.1_Missense_Mutation_p.H150Q|ARPP21_uc003cgf.2_5'Flank	p.H150Q	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			7	714	+			150					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.450C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733541	0.69189	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.86	-7.86	0.01187	Single-stranded nucleic acid binding R3H (1);	0.104145	0.64402	D	0.000003	T	0.52289	0.1725	M	0.66939	2.045	0.34101	D	0.661847	D;D;D	0.63880	0.982;0.993;0.992	D;D;D	0.75484	0.949;0.919;0.986	T	0.67102	-0.5755	10	0.48119	T	0.1	-23.9604	12.5813	0.56391	0.0:0.2095:0.0806:0.7099	.	150;150;150	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	Q	150	ENSP00000414351:H150Q;ENSP00000337792:H150Q;ENSP00000405276:H150Q;ENSP00000187397:H150Q;ENSP00000412326:H150Q	ENSP00000187397:H150Q	H	+	3	2	ARPP21	35705846	0.192000	0.23301	0.631000	0.29282	0.996000	0.88848	-0.463000	0.06696	-1.998000	0.00968	-0.145000	0.13849	CAC		PASS	0.353	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		31	36	31	36	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35770811	35770811	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:35770811C>T	ENST00000187397.4	+	15	1698	c.1242C>T	c.(1240-1242)agC>agT	p.S414S	ARPP21_ENST00000417925.1_Silent_p.S380S|ARPP21_ENST00000337271.5_Silent_p.S360S|ARPP21_ENST00000458225.1_Silent_p.S380S|ARPP21_ENST00000444190.1_Silent_p.S360S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	414	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.S414S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGTCTTCCAGCAGTGCAGGCT	0.527																																						uc003cgb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1240-1242)AGC>AGT		cyclic AMP-regulated phosphoprotein, 21 kD							52.0	55.0	54.0					3																	35770811		2203	4300	6503	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35770811C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1242C>T	3.37:g.35770811C>T						ARPP21_uc003cga.2_Silent_p.S360S|ARPP21_uc011axy.1_Silent_p.S380S|ARPP21_uc003cgf.2_Silent_p.S215S|ARPP21_uc003cgg.2_5'UTR	p.S414S	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			15	1506	+			414			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1242C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215452	0.22373	.	.	ENSG00000172995	ENST00000425289	.	.	.	6.06	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.4693	11.7508	0.51847	0.0:0.8655:0.0:0.1345	.	.	.	.	X	187	.	.	Q	+	1	0	ARPP21	35745815	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.176000	0.31957	2.880000	0.98712	0.650000	0.86243	CAG		PASS	0.527	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		14	26	14	26	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66444471	66444471	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:66444471G>T	ENST00000273261.3	-	12	1985	c.1461C>A	c.(1459-1461)ttC>ttA	p.F487L	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.F511L	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	487	LRRCT.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.F487L(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TACCGCACACGAAACTCTCTG	0.493																																						uc003dmx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1459-1461)TTC>TTA		leucine-rich repeats and immunoglobulin-like							52.0	45.0	47.0					3																	66444471		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66444471G>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1461C>A	3.37:g.66444471G>T	ENSP00000273261:p.Phe487Leu					LRIG1_uc011bfu.1_Missense_Mutation_p.F107L|LRIG1_uc003dmw.2_Missense_Mutation_p.F153L|LRIG1_uc010hnz.2_Missense_Mutation_p.F203L|LRIG1_uc010hoa.2_Missense_Mutation_p.F511L	p.F487L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	12	1475	-		Lung NSC(201;0.0101)	487			Extracellular (Potential).|LRRCT.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1461C>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500743	0.64298	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	D;D	0.82984	-1.67;-1.67	5.66	-4.43	0.03568	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	L	0.38531	1.155	0.47862	D	0.999534	P;P;D	0.60160	0.836;0.865;0.987	P;P;D	0.64237	0.749;0.672;0.923	T	0.80233	-0.1467	10	0.35671	T	0.21	.	15.993	0.80220	0.8676:0.0:0.1324:0.0	.	511;487;487	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	L	487;511;390	ENSP00000273261:F487L;ENSP00000373208:F511L	ENSP00000273261:F487L	F	-	3	2	LRIG1	66527161	0.506000	0.26139	0.936000	0.37596	0.305000	0.27757	-0.051000	0.11885	-0.745000	0.04772	-0.136000	0.14681	TTC		PASS	0.493	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		3	20	3	20	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433401	73433401	+	Missense_Mutation	SNP	C	C	A	rs201058410		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:73433401C>A	ENST00000263666.4	-	10	2430	c.2316G>T	c.(2314-2316)gaG>gaT	p.E772D	PDZRN3_ENST00000479530.1_Missense_Mutation_p.E489D|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E494D|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E429D|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E429D|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	772					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E772D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGGGGAGATCTCCAGGGTGA	0.652																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2314-2316)GAG>GAT		PDZ domain containing ring finger 3							33.0	35.0	35.0					3																	73433401		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433401C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2316G>T	3.37:g.73433401C>A	ENSP00000263666:p.Glu772Asp					PDZRN3_uc011bgh.1_Missense_Mutation_p.E429D|PDZRN3_uc010hoe.1_Missense_Mutation_p.E470D|PDZRN3_uc011bgf.1_Missense_Mutation_p.E489D|PDZRN3_uc011bgg.1_Missense_Mutation_p.E492D	p.E772D	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2412	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	772					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2316G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072779	0.20147	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.15372	2.43;3.12;3.02;3.02;3.13;2.95	5.11	-0.664	0.11406	.	0.051282	0.85682	N	0.000000	T	0.12135	0.0295	L	0.46567	1.45	0.53688	D	0.999974	B;B;B;B	0.26483	0.029;0.058;0.04;0.15	B;B;B;B	0.25987	0.065;0.022;0.047;0.039	T	0.13124	-1.0521	10	0.26408	T	0.33	.	6.811	0.23805	0.0:0.5364:0.1252:0.3384	.	494;489;489;772	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	D	772;494;429;429;489;470	ENSP00000263666:E772D;ENSP00000442026:E494D;ENSP00000418168:E429D;ENSP00000418484:E429D;ENSP00000418624:E489D;ENSP00000419250:E470D	ENSP00000263666:E772D	E	-	3	2	PDZRN3	73516091	0.623000	0.27094	0.969000	0.41365	0.995000	0.86356	-0.183000	0.09712	-0.096000	0.12329	0.655000	0.94253	GAG		PASS	0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		4	13	4	13	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74413749	74413749	+	Splice_Site	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:74413749T>A	ENST00000263665.6	-	9	1111		c.e9-2			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTTCTCTCCTAGATGATAAT	0.328																																						uc003dpm.1																			1	Unknown(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.e9-1		contactin 3 precursor							131.0	123.0	126.0					3																	74413749		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74413749T>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1084-2A>T	3.37:g.74413749T>A							p.E362_splice	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	9	1164	-		Lung NSC(201;0.138)|Lung SC(41;0.21)						B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.1084_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396001	0.83011	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3647	0.74510	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74496439	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	7.382000	0.79729	2.017000	0.59298	0.383000	0.25322	.		PASS	0.328	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Intron	10	20	10	20	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113850162	113850162	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:113850162T>C	ENST00000460779.1	-	7	1098	c.809A>G	c.(808-810)cAa>cGa	p.Q270R	DRD3_ENST00000295881.7_Missense_Mutation_p.Q270R|DRD3_ENST00000467632.1_Missense_Mutation_p.Q270R|DRD3_ENST00000383673.2_Missense_Mutation_p.Q270R	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	270					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.Q270R(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCCTCTTTCTTGGAAGCCTGG	0.532																																						uc003ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(808-810)CAA>CGA		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						153.0	158.0	156.0					3																	113850162		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850162T>C		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.809A>G	3.37:g.113850162T>C	ENSP00000419402:p.Gln270Arg					DRD3_uc010hqn.1_Missense_Mutation_p.Q270R|DRD3_uc003ebb.1_Missense_Mutation_p.Q270R|DRD3_uc003ebc.1_Missense_Mutation_p.Q270R	p.Q270R	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1232	-			270			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.809A>G	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	T	9.634	1.137188	0.21123	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.58	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.684246	0.15104	N	0.280379	T	0.57475	0.2056	L	0.33624	1.015	0.22330	N	0.999196	B;B;B;B	0.23806	0.008;0.091;0.091;0.015	B;B;B;B	0.25759	0.016;0.063;0.063;0.057	T	0.43861	-0.9365	10	0.16896	T	0.51	.	9.2611	0.37612	0.0:0.0808:0.0:0.9192	.	270;270;270;270	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	R	270	ENSP00000419402:Q270R;ENSP00000420662:Q270R;ENSP00000373169:Q270R;ENSP00000295881:Q270R	ENSP00000281274:Q270R	Q	-	2	0	DRD3	115332852	0.998000	0.40836	1.000000	0.80357	0.803000	0.45373	2.289000	0.43523	2.311000	0.77944	0.528000	0.53228	CAA		PASS	0.532	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		22	54	22	54	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416536	121416536	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:121416536C>G	ENST00000340645.5	-	13	2944	c.2819G>C	c.(2818-2820)aGa>aCa	p.R940T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R945T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	940					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R940T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCCTCAGCTCTGGATAATAA	0.358																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(2818-2820)AGA>ACA		golgi autoantigen, golgin subfamily b,							85.0	93.0	90.0					3																	121416536		2202	4299	6501	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416536C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2819G>C	3.37:g.121416536C>G	ENSP00000341848:p.Arg940Thr					GOLGB1_uc010hrc.2_Missense_Mutation_p.R945T|GOLGB1_uc003eej.3_Missense_Mutation_p.R906T|GOLGB1_uc011bjm.1_Missense_Mutation_p.R826T|GOLGB1_uc010hrd.1_Missense_Mutation_p.R904T	p.R940T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2945	-			940			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2819G>C	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.634|7.634	0.679533|0.679533	0.14907|0.14907	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.25414	.|2.39;2.39;1.8	5.35|5.35	2.15|2.15	0.27550|0.27550	.|.	.|0.386726	.|0.25442	.|N	.|0.030660	T|T	0.22437|0.22437	0.0541|0.0541	L|L	0.56769|0.56769	1.78|1.78	0.30416|0.30416	N|N	0.778615|0.778615	.|P;B;P;P;P	.|0.39480	.|0.493;0.279;0.493;0.675;0.554	.|B;B;B;B;B	.|0.41988	.|0.167;0.124;0.234;0.372;0.299	T|T	0.08186|0.08186	-1.0734|-1.0734	5|10	.|0.28530	.|T	.|0.3	.|.	3.4799|3.4799	0.07598|0.07598	0.2097:0.5602:0.0:0.23|0.2097:0.5602:0.0:0.23	.|.	.|865;904;945;945;940	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	Q|T	811|940;945;904;752	.|ENSP00000341848:R940T;ENSP00000377275:R945T;ENSP00000418231:R904T	.|ENSP00000341848:R940T	E|R	-|-	1|2	0|0	GOLGB1|GOLGB1	122899226|122899226	0.806000|0.806000	0.28996|0.28996	0.999000|0.999000	0.59377|0.59377	0.983000|0.983000	0.72400|0.72400	1.213000|1.213000	0.32407|0.32407	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		14	109	14	109	---	---	---	---
CASR	846	broad.mit.edu	37	3	122003472	122003472	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:122003472C>G	ENST00000490131.1	+	7	3043	c.2671C>G	c.(2671-2673)Cgc>Ggc	p.R891G	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R891G|CASR_ENST00000498619.1_Missense_Mutation_p.R901G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	891	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R891G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACGCTGCGCCGCAGCAACGT	0.627																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(2671-2673)CGC>GGC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						30.0	31.0	31.0					3																	122003472		2203	4298	6501	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003472C>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2671C>G	3.37:g.122003472C>G	ENSP00000418685:p.Arg891Gly					CASR_uc003eew.3_Missense_Mutation_p.R901G	p.R891G	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3043	+			891			Cytoplasmic (Potential).|Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2671C>G	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545724	0.65198	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89123	-2.47;-2.47;-2.47	5.89	5.89	0.94794	.	0.051500	0.85682	D	0.000000	D	0.86904	0.6045	L	0.27053	0.805	0.58432	D	0.999998	D;D	0.58620	0.983;0.983	P;B	0.47528	0.549;0.41	D	0.88244	0.2912	10	0.66056	D	0.02	.	19.2448	0.93898	0.0:1.0:0.0:0.0	.	901;891	E7ENE0;P41180	.;CASR_HUMAN	G	891;901;891	ENSP00000418685:R891G;ENSP00000420194:R901G;ENSP00000296154:R891G	ENSP00000296154:R891G	R	+	1	0	CASR	123486162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.666000	0.83877	2.793000	0.96121	0.561000	0.74099	CGC		PASS	0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		15	20	15	20	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125831645	125831645	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:125831645C>G	ENST00000393434.2	-	19	2510	c.2161G>C	c.(2161-2163)Gat>Cat	p.D721H	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D721H|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D620H|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D731H|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	721	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D721H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACGAACTCATCATGAATGGAG	0.562																																						uc003eim.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2161-2163)GAT>CAT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						129.0	122.0	125.0					3																	125831645		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125831645C>G	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2161G>C	3.37:g.125831645C>G	ENSP00000377083:p.Asp721His					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D620H|ALDH1L1_uc003ein.1_Missense_Mutation_p.D256H	p.D721H	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	19	2351	-			721			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.2161G>C	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765594	0.49574	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	4.37	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.053069	0.64402	D	0.000001	T	0.47173	0.1431	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.993;0.997;0.988	T	0.53954	-0.8365	10	0.87932	D	0	.	8.6919	0.34271	0.0:0.8082:0.0:0.1918	.	620;256;721	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	H	731;721;620;721	ENSP00000273450:D731H;ENSP00000420293:D721H;ENSP00000395881:D620H;ENSP00000377083:D721H	ENSP00000273450:D731H	D	-	1	0	ALDH1L1	127314335	1.000000	0.71417	0.709000	0.30452	0.485000	0.33311	5.681000	0.68175	0.475000	0.27415	0.313000	0.20887	GAT		PASS	0.562	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		18	106	18	106	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137881387	137881387	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:137881387C>A	ENST00000260803.4	-	8	1132	c.979G>T	c.(979-981)Gta>Tta	p.V327L	DBR1_ENST00000505015.2_Missense_Mutation_p.V93L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	327					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.V327L(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTTCCAATACTTCTTTCATA	0.333																																						uc003erv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)GTA>TTA		debranching enzyme homolog 1							89.0	97.0	94.0					3																	137881387		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881387C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.979G>T	3.37:g.137881387C>A	ENSP00000260803:p.Val327Leu					DBR1_uc003eru.2_Missense_Mutation_p.V276L|DBR1_uc003ert.2_Missense_Mutation_p.V95L	p.V327L	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1115	-			327					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.979G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033270	0.35893	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.49139	0.79	5.86	4.98	0.66077	Lariat debranching enzyme, C-terminal (1);	0.119316	0.56097	D	0.000028	T	0.46190	0.1380	M	0.70595	2.14	0.49130	D	0.999757	B;P	0.43231	0.289;0.801	B;B	0.40940	0.329;0.344	T	0.45571	-0.9252	10	0.38643	T	0.18	-8.414	8.7929	0.34861	0.0:0.8321:0.0:0.1679	.	327;95	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	L	327;93	ENSP00000260803:V327L	ENSP00000260803:V327L	V	-	1	0	DBR1	139364077	1.000000	0.71417	0.960000	0.40013	0.359000	0.29487	3.173000	0.50839	1.474000	0.48178	0.563000	0.77884	GTA		PASS	0.333	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			15	94	15	94	---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146309615	146309615	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:146309615C>A	ENST00000443512.1	-	5	1510	c.507G>T	c.(505-507)tgG>tgT	p.W169C	PLSCR5_ENST00000492200.1_Missense_Mutation_p.W169C|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Missense_Mutation_p.W157C	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	169								p.W169C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GAAAGGGGTCCCACTTCTGCG	0.378																																						uc003ewb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)TGG>TGT		phospholipid scramblase family, member 5							63.0	59.0	60.0					3																	146309615		1837	4095	5932	SO:0001583	missense	389158							g.chr3:146309615C>A	AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.507G>T	3.37:g.146309615C>A	ENSP00000390111:p.Trp169Cys					PLSCR5_uc010hvb.2_Missense_Mutation_p.W157C|PLSCR5_uc010hvc.2_Missense_Mutation_p.W169C	p.W169C	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN			5	1511	-			169					B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	c.507G>T	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025041	0.75390	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.26373	1.74;1.74;1.74	5.66	5.66	0.87406	Tubby, C-terminal (1);	.	.	.	.	T	0.59059	0.2166	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.62124	-0.6920	9	0.49607	T	0.09	-14.5208	19.7516	0.96271	0.0:1.0:0.0:0.0	.	157;169	B2RXK5;A0PG75	.;PLS5_HUMAN	C	169;157;169	ENSP00000417184:W169C;ENSP00000418626:W157C;ENSP00000390111:W169C	ENSP00000390111:W169C	W	-	3	0	PLSCR5	147792305	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.480000	0.81109	2.684000	0.91462	0.643000	0.83706	TGG		PASS	0.378	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670		5	44	5	44	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150874031	150874031	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:150874031G>T	ENST00000474524.1	+	5	678	c.640G>T	c.(640-642)Gat>Tat	p.D214Y	MED12L_ENST00000422248.2_Missense_Mutation_p.D214Y|MED12L_ENST00000273432.4_Missense_Mutation_p.D214Y|MED12L_ENST00000309237.4_Missense_Mutation_p.D214Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	214						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.D214Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCACGGGCGATGGCCCTGT	0.473																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(640-642)GAT>TAT		mediator of RNA polymerase II transcription,							111.0	105.0	107.0					3																	150874031		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150874031G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.640G>T	3.37:g.150874031G>T	ENSP00000417235:p.Asp214Tyr					MED12L_uc011bnz.1_Missense_Mutation_p.D214Y|MED12L_uc003eym.1_Missense_Mutation_p.D214Y|MED12L_uc003eyn.2_Missense_Mutation_p.D214Y|MED12L_uc003eyo.2_Missense_Mutation_p.D214Y	p.D214Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	678	+			214					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.640G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532522	0.27387	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.60920	0.47;0.47;0.36;0.15	4.93	2.98	0.34508	.	0.376195	0.28021	N	0.016914	T	0.30634	0.0771	N	0.08118	0	0.23003	N	0.998444	B;B;B;P	0.37636	0.047;0.028;0.047;0.603	B;B;B;B	0.34346	0.017;0.013;0.026;0.18	T	0.20773	-1.0265	10	0.87932	D	0	-8.3352	5.653	0.17627	0.1593:0.1987:0.642:0.0	.	214;214;214;214	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Y	214	ENSP00000403308:D214Y;ENSP00000310760:D214Y;ENSP00000417235:D214Y;ENSP00000273432:D214Y	ENSP00000273432:D214Y	D	+	1	0	MED12L	152356721	0.945000	0.32115	0.318000	0.25279	0.533000	0.34776	2.017000	0.40981	2.438000	0.82558	0.557000	0.71058	GAT		PASS	0.473	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	67	10	67	---	---	---	---
SHOX2	6474	broad.mit.edu	37	3	157820671	157820671	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:157820671G>A	ENST00000425436.3	-	2	376	c.351C>T	c.(349-351)tcC>tcT	p.S117S	RSRC1_ENST00000480820.1_5'Flank|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000483851.2_Silent_p.S117S|SHOX2_ENST00000389589.4_Silent_p.S141S	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	117					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S141S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TCAGCTCCGGGGACACTGGAG	0.572																																						uc003fbr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)TCC>TCT		short stature homeobox 2 isoform a							98.0	88.0	91.0					3																	157820671		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820671G>A	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.351C>T	3.37:g.157820671G>A						SHOX2_uc003fbs.2_Silent_p.S141S|SHOX2_uc010hvw.2_Silent_p.S117S	p.S117S	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	490	-			117					O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.351C>T	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.416964	0.25552	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.47	3.69	0.42338	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58561	-0.7615	4	.	.	.	.	11.5775	0.50873	0.1438:0.0:0.8562:0.0	.	.	.	.	S	21	.	.	P	-	1	0	SHOX2	159303365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.901000	0.28445	0.690000	0.31570	-0.148000	0.13756	CCC		PASS	0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			13	82	13	82	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183454574	183454574	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:183454574A>T	ENST00000305135.5	+	8	1076	c.881A>T	c.(880-882)aAg>aTg	p.K294M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	294	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.K294M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATTTTAAGGACAGCCAG	0.408																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(880-882)AAG>ATG		YEATS domain containing 2							148.0	138.0	141.0					3																	183454574		1873	4111	5984	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183454574A>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.881A>T	3.37:g.183454574A>T	ENSP00000306983:p.Lys294Met						p.K294M	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1076	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		294			YEATS.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.881A>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.835872	0.91117	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.27557	1.66	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.70903	2.155	0.80722	D	1	D	0.56521	0.976	D	0.64687	0.928	T	0.57831	-0.7743	10	0.72032	D	0.01	-20.591	15.6722	0.77286	1.0:0.0:0.0:0.0	.	294	Q9ULM3	YETS2_HUMAN	M	294	ENSP00000306983:K294M	ENSP00000306983:K294M	K	+	2	0	YEATS2	184937268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.096000	0.63516	0.528000	0.53228	AAG		PASS	0.408	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		22	152	22	152	---	---	---	---
TPRG1	285386	broad.mit.edu	37	3	188956624	188956624	+	Silent	SNP	G	G	T	rs368818406		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:188956624G>T	ENST00000345063.3	+	4	572	c.405G>T	c.(403-405)ctG>ctT	p.L135L	TPRG1-AS2_ENST00000425454.1_RNA|TPRG1_ENST00000433971.1_Silent_p.L135L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	135						cytoplasm (GO:0005737)		p.L135L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GTGTGCAGCTGCAGCGGATTC	0.473																																						uc003frv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)CTG>CTT		tumor protein p63 regulated 1							149.0	136.0	141.0					3																	188956624		2203	4300	6503	SO:0001819	synonymous_variant	285386							g.chr3:188956624G>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.405G>T	3.37:g.188956624G>T						TPRG1_uc003frw.1_Silent_p.L135L	p.L135L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	9	1632	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	135						Silent	SNP	ENST00000345063.3	37	c.405G>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387163	0.42308	.	.	ENSG00000188001	ENST00000425670	.	.	.	5.74	-0.502	0.12004	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26883	-1.0090	4	.	.	.	0.0421	3.4804	0.07601	0.3189:0.0:0.2959:0.3852	.	.	.	.	S	63	.	.	A	+	1	0	TPRG1	190439318	0.424000	0.25490	0.541000	0.28102	0.979000	0.70002	-0.183000	0.09712	0.158000	0.19367	0.563000	0.77884	GCA		PASS	0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		34	105	34	105	---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190126254	190126254	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:190126254G>C	ENST00000264734.2	+	4	992	c.744G>C	c.(742-744)ttG>ttC	p.L248F	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	248					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.L248F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTTGCTTTTTGGCTGGAGCTG	0.388																																						uc003fsi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(742-744)TTG>TTC		claudin 16							142.0	137.0	139.0					3																	190126254		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190126254G>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.744G>C	3.37:g.190126254G>C	ENSP00000264734:p.Leu248Phe					CLDN16_uc010hze.2_Intron	p.L248F	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	4	812	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		248			Helical; (Potential).			Missense_Mutation	SNP	ENST00000264734.2	37	c.744G>C	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447565	0.43429	.	.	ENSG00000113946	ENST00000264734	D	0.90504	-2.68	5.6	1.83	0.25207	.	0.099830	0.43919	D	0.000514	D	0.92632	0.7659	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.89794	0.3970	10	0.72032	D	0.01	-2.4464	6.0597	0.19830	0.2727:0.0:0.6054:0.1219	.	248	Q9Y5I7	CLD16_HUMAN	F	248	ENSP00000264734:L248F	ENSP00000264734:L248F	L	+	3	2	CLDN16	191608948	1.000000	0.71417	0.988000	0.46212	0.384000	0.30261	0.521000	0.22893	0.051000	0.15978	-0.262000	0.10625	TTG		PASS	0.388	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		13	92	13	92	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193130151	193130151	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:193130151T>A	ENST00000342695.4	-	27	3346	c.3024A>T	c.(3022-3024)acA>acT	p.T1008T	ATP13A4_ENST00000392443.3_Silent_p.T989T|ATP13A4_ENST00000400270.2_Silent_p.T24T|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1008						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.T1008T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CATTTTGTACTGTGCAGGCAC	0.393																																						uc003ftd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(3022-3024)ACA>ACT		ATPase type 13A4							169.0	171.0	170.0					3																	193130151		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193130151T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3024A>T	3.37:g.193130151T>A						ATP13A4_uc010hzi.2_RNA	p.T1008T	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	27	3132	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1008			Cytoplasmic (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.3024A>T	CCDS3304.2																																																																																				PASS	0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		59	179	59	179	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062580	194062580	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:194062580G>A	ENST00000323830.3	-	2	941	c.852C>T	c.(850-852)ctC>ctT	p.L284L	CPN2_ENST00000429275.1_Silent_p.L284L	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	284					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.L284L(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)		TGTGGGCAAAGAGGCCGGCAG	0.612																																						uc003fts.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(850-852)CTC>CTT		carboxypeptidase N, polypeptide 2							55.0	53.0	54.0					3																	194062580		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062580G>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.852C>T	3.37:g.194062580G>A							p.L284L	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	942	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		284			LRR 8.		B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.852C>T	CCDS33920.1																																																																																				PASS	0.612	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		8	62	8	62	---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197670685	197670685	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr3:197670685C>A	ENST00000265239.6	-	4	670	c.246G>T	c.(244-246)atG>atT	p.M82I	IQCG_ENST00000455191.1_Missense_Mutation_p.M82I|IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.M82I	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	82						extracellular vesicular exosome (GO:0070062)		p.M82I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACTGAACGGGCATGATGTAGT	0.468																																						uc003fyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)ATG>ATT		IQ motif containing G							144.0	142.0	143.0					3																	197670685		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197670685C>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.246G>T	3.37:g.197670685C>A	ENSP00000265239:p.Met82Ile					IQCG_uc003fyp.2_Missense_Mutation_p.M82I|IQCG_uc003fyq.3_Missense_Mutation_p.M82I	p.M82I	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	3	392	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		82					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.246G>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155762	0.21454	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.56941	0.58;0.58;0.43;0.43	5.4	3.54	0.40534	.	0.068392	0.64402	N	0.000008	T	0.47432	0.1445	L	0.56280	1.765	0.31398	N	0.677057	P;P	0.35328	0.487;0.495	B;B	0.35470	0.203;0.073	T	0.51702	-0.8672	10	0.30854	T	0.27	-13.2561	13.4177	0.60979	0.2951:0.7049:0.0:0.0	.	82;82	C9JKX8;Q9H095	.;IQCG_HUMAN	I	82;82;82;63	ENSP00000265239:M82I;ENSP00000407736:M82I;ENSP00000389897:M82I;ENSP00000406411:M63I	ENSP00000265239:M82I	M	-	3	0	IQCG	199155082	1.000000	0.71417	0.986000	0.45419	0.058000	0.15608	2.654000	0.46699	0.609000	0.30018	0.551000	0.68910	ATG		PASS	0.468	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		22	151	22	151	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	86295	86295	+	3'UTR	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:86295G>C	ENST00000339368.6	+	0	1104							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AAGCCTGAATGAACATAAGAA	0.378																																						uc003fzv.1																			0					0						c.(901-903)GAA>CAA		zinc finger protein 595							36.0	39.0	38.0					4																	86295		2086	4261	6347	SO:0001624	3_prime_UTR_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:86295G>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1101G>C	4.37:g.86295G>C						ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.E69Q|ZNF595_uc011but.1_Missense_Mutation_p.E69Q	p.E301Q	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	6	1057	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	301						Missense_Mutation	SNP	ENST00000339368.6	37	c.901G>C																																																																																					PASS	0.378	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2	NM_182524		16	39	16	39	---	---	---	---
CTBP1	1487	broad.mit.edu	37	4	1206732	1206732	+	Missense_Mutation	SNP	C	C	A	rs7687296	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:1206732C>A	ENST00000290921.6	-	8	1289	c.1108G>T	c.(1108-1110)Gtg>Ttg	p.V370L	CTBP1_ENST00000382952.3_Missense_Mutation_p.V359L	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	370					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V370L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TCAGGGTGCACGACGGCGGGG	0.657																																						uc003gcv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1108-1110)GTG>TTG		C-terminal binding protein 1 isoform 1		C	LEU/VAL,LEU/VAL	7,4397	12.9+/-30.5	0,7,2195	70.0	68.0	69.0		1075,1108	3.5	0.5	4	dbSNP_116	69	0,8600		0,0,4300	yes	missense,missense	CTBP1	NM_001012614.1,NM_001328.2	32,32	0,7,6495	AA,AC,CC		0.0,0.1589,0.0538	benign,benign	359/430,370/441	1206732	7,12997	2202	4300	6502	SO:0001583	missense	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1206732C>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.1108G>T	4.37:g.1206732C>A	ENSP00000290921:p.Val370Leu					uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.V351L|CTBP1_uc003gcu.1_Missense_Mutation_p.V359L|CTBP1_uc003gcw.2_Missense_Mutation_p.V44L	p.V370L	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	8	1273	-			370					Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	ENST00000290921.6	37	c.1108G>T	CCDS3348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.610784|3.610784	0.66558|0.66558	0.001589|0.001589	0.0|0.0	ENSG00000159692|ENSG00000159692	ENST00000503594;ENST00000504092|ENST00000382952;ENST00000290921	.|D;D	.|0.82984	.|-1.66;-1.67	4.34|4.34	3.5|3.5	0.40072|0.40072	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.87684|0.87684	0.6239|0.6239	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.53312	.|0.959;0.193;0.114	.|D;B;B	.|0.65987	.|0.94;0.064;0.064	D|D	0.84506|0.84506	0.0619|0.0619	5|10	.|0.23891	.|T	.|0.37	-27.3744|-27.3744	11.9622|11.9622	0.53015|0.53015	0.0:0.9149:0.0:0.0851|0.0:0.9149:0.0:0.0851	rs7687296|rs7687296	.|156;370;359	.|Q6IP95;Q13363;Q7Z2Q5	.|.;CTBP1_HUMAN;.	L|L	112;216|359;370	.|ENSP00000372411:V359L;ENSP00000290921:V370L	.|ENSP00000290921:V370L	R|V	-|-	2|1	0|0	CTBP1|CTBP1	1196732|1196732	0.997000|0.997000	0.39634|0.39634	0.501000|0.501000	0.27601|0.27601	0.913000|0.913000	0.54294|0.54294	7.042000|7.042000	0.76565|0.76565	0.819000|0.819000	0.34492|0.34492	0.561000|0.561000	0.74099|0.74099	CGT|GTG		PASS	0.657	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		4	17	4	17	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20618590	20618590	+	Missense_Mutation	SNP	C	C	A	rs375351643		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:20618590C>A	ENST00000504154.1	+	35	4157	c.3905C>A	c.(3904-3906)aCc>aAc	p.T1302N	SLIT2_ENST00000503837.1_Missense_Mutation_p.T1298N|SLIT2_ENST00000503823.1_Missense_Mutation_p.T1294N|SLIT2_ENST00000273739.5_Missense_Mutation_p.T1315N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1302	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.T1302N(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						CAGAACGGAACCAGCTTCCAC	0.587																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3904-3906)ACC>AAC		slit homolog 2 precursor							54.0	52.0	53.0					4																	20618590		2203	4300	6503	SO:0001583	missense	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.chr4:20618590C>A	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.3905C>A	4.37:g.20618590C>A	ENSP00000422591:p.Thr1302Asn					SLIT2_uc003gps.1_Missense_Mutation_p.T1294N	p.T1302N	NM_004787	NP_004778	O94813	SLIT2_HUMAN			35	4109	+			1302			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3905C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883635	0.51908	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	6.06	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	N	0.16037	0.36	0.80722	D	1	B;B	0.23735	0.016;0.09	B;B	0.34779	0.013;0.189	T	0.66516	-0.5904	10	0.45353	T	0.12	.	17.5239	0.87794	0.0:0.8762:0.1237:0.0	.	1294;1302	O94813-3;O94813	.;SLIT2_HUMAN	N	1294;1302;1315;1298;1298	ENSP00000427548:T1294N;ENSP00000422591:T1302N;ENSP00000273739:T1315N;ENSP00000422261:T1298N	ENSP00000273739:T1315N	T	+	2	0	SLIT2	20227688	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.089000	0.71384	1.563000	0.49615	0.650000	0.86243	ACC		PASS	0.587	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			11	48	11	48	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40123482	40123482	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:40123482C>T	ENST00000261435.6	+	9	4167	c.3751C>T	c.(3751-3753)Cca>Tca	p.P1251S		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1251					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.P1251S(2)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCAGTCCTTTCCAGGTATTCT	0.373																																						uc003guy.3																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3751-3753)CCA>TCA		Nedd4 binding protein 2							102.0	110.0	108.0					4																	40123482		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123482C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3751C>T	4.37:g.40123482C>T	ENSP00000261435:p.Pro1251Ser					N4BP2_uc010ifq.2_Missense_Mutation_p.P1171S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1171S	p.P1251S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	4089	+			1251					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.3751C>T	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.015|0.015	-1.568112|-1.568112	0.00895|0.00895	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.14893|.	2.47|.	5.93|5.93	1.07|1.07	0.20283|0.20283	.|.	0.655770|.	0.15196|.	N|.	0.275271|.	T|T	0.34542|0.34542	0.0901|0.0901	L|L	0.35414|0.35414	1.06|1.06	0.19300|0.19300	N|N	0.999979|0.999979	B;B|.	0.23540|.	0.065;0.087|.	B;B|.	0.22753|.	0.041;0.018|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.10902|.	T|.	0.67|.	-0.226|-0.226	10.0933|10.0933	0.42460|0.42460	0.0:0.4647:0.0:0.5353|0.0:0.4647:0.0:0.5353	.|.	1251;1251|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	S|F	1251;1171|897	ENSP00000261435:P1251S|.	ENSP00000261435:P1251S|.	P|S	+|+	1|2	0|0	N4BP2|N4BP2	39799877|39799877	0.937000|0.937000	0.31787|0.31787	0.303000|0.303000	0.25071|0.25071	0.047000|0.047000	0.14425|0.14425	0.088000|0.088000	0.14979|0.14979	0.238000|0.238000	0.21222|0.21222	0.591000|0.591000	0.81541|0.81541	CCA|TCC		PASS	0.373	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		25	96	25	96	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47514816	47514816	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:47514816G>C	ENST00000273859.3	+	2	528	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	ATP10D_ENST00000504445.1_Missense_Mutation_p.V87L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	87					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V87L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCTGAATTTTGTGCCAAGAAA	0.333																																						uc003gxk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(259-261)GTG>CTG		ATPase, class V, type 10D							68.0	72.0	71.0					4																	47514816		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514816G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.259G>C	4.37:g.47514816G>C	ENSP00000273859:p.Val87Leu					ATP10D_uc003gxj.3_Missense_Mutation_p.V87L	p.V87L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			2	423	+			87			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.259G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	1.860	-0.462963	0.04476	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.36699	1.24;1.24	5.31	5.31	0.75309	.	0.085098	0.50627	D	0.000102	T	0.15782	0.0380	N	0.13140	0.3	0.31322	N	0.685885	B;B	0.09022	0.002;0.001	B;B	0.08055	0.001;0.003	T	0.30208	-0.9986	10	0.02654	T	1	-21.1032	5.5718	0.17200	0.1538:0.0:0.6782:0.168	.	87;87	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	87	ENSP00000273859:V87L;ENSP00000420909:V87L	ENSP00000273859:V87L	V	+	1	0	ATP10D	47209573	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	3.913000	0.56394	2.629000	0.89072	0.557000	0.71058	GTG		PASS	0.333	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	37	11	37	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47682236	47682236	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:47682236C>G	ENST00000273857.4	-	8	1053	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.D213H|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.D285H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	352	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.D352N(1)|p.D352H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAGCGCCCGTCCCCGCAGCGA	0.542																																						uc003gxm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1054-1056)GAC>CAC		corin							113.0	87.0	96.0					4																	47682236		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682236C>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1054G>C	4.37:g.47682236C>G	ENSP00000273857:p.Asp352His					CORIN_uc011bzf.1_Missense_Mutation_p.D213H|CORIN_uc011bzg.1_Missense_Mutation_p.D285H|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	p.D352H	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			8	1147	-			352			Extracellular (Potential).|LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1054G>C	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412110	0.83340	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.96073	-3.9;-3.9;-3.9	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.97791	0.9275	M	0.81179	2.53	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.978	D	0.97969	1.0342	10	0.66056	D	0.02	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	285;352	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	H	352;213;285	ENSP00000273857:D352H;ENSP00000425597:D213H;ENSP00000424212:D285H	ENSP00000273857:D352H	D	-	1	0	CORIN	47376993	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.259000	0.65485	2.803000	0.96430	0.585000	0.79938	GAC		PASS	0.542	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			10	30	10	30	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66231739	66231739	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:66231739T>C	ENST00000273854.3	-	11	2561	c.1961A>G	c.(1960-1962)cAt>cGt	p.H654R	EPHA5_ENST00000511294.1_Missense_Mutation_p.H655R|EPHA5_ENST00000354839.4_Missense_Mutation_p.H632R|EPHA5_ENST00000432638.2_Missense_Mutation_p.H491R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	654					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.H654R(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						CTCATAGGTATGTGGATCAAT	0.373										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.(1960-1962)CAT>CGT		ephrin receptor EphA5 isoform a precursor							193.0	159.0	171.0					4																	66231739		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.chr4:66231739T>C	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.1961A>G	4.37:g.66231739T>C	ENSP00000273854:p.His654Arg	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.H586R|EPHA5_uc003hcz.2_Missense_Mutation_p.H632R|EPHA5_uc011cah.1_Missense_Mutation_p.H655R|EPHA5_uc011cai.1_Missense_Mutation_p.H633R|EPHA5_uc003hda.2_Missense_Mutation_p.H655R	p.H654R	NM_004439	NP_004430	P54756	EPHA5_HUMAN			11	2154	-			654			Cytoplasmic (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1961A>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861089	0.51482	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.69	5.69	0.88448	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000015	T	0.26774	0.0655	M	0.85373	2.75	0.44061	D	0.996803	B;B;P;P	0.39601	0.395;0.206;0.53;0.68	B;B;B;B	0.40375	0.175;0.084;0.327;0.095	T	0.07309	-1.0779	10	0.59425	D	0.04	.	15.9483	0.79809	0.0:0.0:0.0:1.0	.	633;655;632;654	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	R	654;491;632;655	ENSP00000273854:H654R;ENSP00000389208:H491R;ENSP00000346899:H632R;ENSP00000427638:H655R	ENSP00000273854:H654R	H	-	2	0	EPHA5	65914334	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.165000	0.58196	2.168000	0.68352	0.455000	0.32223	CAT		PASS	0.373	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		25	34	25	34	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69816854	69816854	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:69816854C>G	ENST00000251566.4	-	1	655	c.625G>C	c.(625-627)Gta>Cta	p.V209L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	209					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V209L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAATTTTTTACTCTTTCCAGA	0.403																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(625-627)GTA>CTA		UDP glucuronosyltransferase 2 family,							51.0	53.0	52.0					4																	69816854		2203	4298	6501	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69816854C>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.625G>C	4.37:g.69816854C>G	ENSP00000251566:p.Val209Leu					UGT2A3_uc010ihp.1_RNA	p.V209L	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	656	-			209			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.625G>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	4.261	0.047447	0.08243	.	.	ENSG00000135220	ENST00000251566	T	0.67865	-0.29	4.49	0.824	0.18818	.	0.268032	0.31123	N	0.008212	T	0.48241	0.1489	L	0.38953	1.18	0.38165	D	0.939156	B	0.22480	0.07	B	0.27796	0.083	T	0.27123	-1.0083	10	0.38643	T	0.18	.	1.3335	0.02140	0.1529:0.4521:0.1491:0.2458	.	209	Q6UWM9	UD2A3_HUMAN	L	209	ENSP00000251566:V209L	ENSP00000251566:V209L	V	-	1	0	UGT2A3	69851443	0.074000	0.21230	0.006000	0.13384	0.097000	0.18754	0.291000	0.18994	-0.057000	0.13199	0.585000	0.79938	GTA		PASS	0.403	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		13	30	13	30	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:71509397G>A	ENST00000396073.3	+	9	2535	c.2254G>A	c.(2254-2256)Gct>Act	p.A752T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2254-2256)GCT>ACT		enamelin precursor							62.0	63.0	62.0					4																	71509397		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509397G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2254G>A	4.37:g.71509397G>A	ENSP00000379383:p.Ala752Thr						p.A752T	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2535	+			752					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2254G>A	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	6.469	0.454700	0.12283	.	.	ENSG00000132464	ENST00000396073	T	0.30182	1.54	6.01	-6.31	0.02001	.	2.008630	0.02055	N	0.050351	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.32862	0.387	B	0.29440	0.102	T	0.25847	-1.0120	10	0.56958	D	0.05	0.8239	8.8622	0.35265	0.5697:0.0:0.3294:0.1009	.	752	Q9NRM1	ENAM_HUMAN	T	752	ENSP00000379383:A752T	ENSP00000379383:A752T	A	+	1	0	ENAM	71728261	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.369000	0.02578	-1.022000	0.03346	-0.137000	0.14449	GCT		PASS	0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		21	51	21	51	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113462282	113462282	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:113462282G>A	ENST00000505019.1	-	25	5866	c.5741C>T	c.(5740-5742)aCc>aTc	p.T1914I	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1914						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.T1914I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAAACACAGGGTTGGTAGCCA	0.378																																						uc003iau.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5740-5742)ACC>ATC		prematurely terminated mRNA decay factor-like							46.0	48.0	47.0					4																	113462282		2203	4299	6502	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113462282G>A																												ENST00000505019.1:c.5741C>T	4.37:g.113462282G>A	ENSP00000424737:p.Thr1914Ile					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.T372I	p.T1914I	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	25	5952	-		Ovarian(17;0.156)	736					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5741C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.983568	0.74474	.	.	ENSG00000138658	ENST00000505019	D	0.92446	-3.04	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	L	0.53729	1.69	0.80722	D	1	P;P	0.49961	0.858;0.93	P;P	0.53102	0.573;0.718	D	0.93874	0.7165	10	0.66056	D	0.02	-12.7115	19.7625	0.96325	0.0:0.0:1.0:0.0	.	1914;372	G5EA02;B3KQX2	.;.	I	1914	ENSP00000424737:T1914I	ENSP00000424737:T1914I	T	-	2	0	C4orf21	113681731	1.000000	0.71417	0.912000	0.35992	0.993000	0.82548	3.963000	0.56773	2.663000	0.90544	0.563000	0.77884	ACC		PASS	0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	11	5	11	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114195750	114195750	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:114195750T>C	ENST00000357077.4	+	15	1681	c.1628T>C	c.(1627-1629)gTg>gCg	p.V543A	ANK2_ENST00000264366.6_Missense_Mutation_p.V543A|ANK2_ENST00000394537.3_Missense_Mutation_p.V543A|ANK2_ENST00000506722.1_Missense_Mutation_p.V522A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	543					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V543A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGCCAGGTGGATGTGGCA	0.512																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1627-1629)GTG>GCG		ankyrin 2 isoform 1							92.0	91.0	91.0					4																	114195750		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114195750T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1628T>C	4.37:g.114195750T>C	ENSP00000349588:p.Val543Ala					ANK2_uc003ibd.3_Missense_Mutation_p.V522A|ANK2_uc003ibf.3_Missense_Mutation_p.V543A|ANK2_uc003ibc.2_Missense_Mutation_p.V519A|ANK2_uc011cgb.1_Missense_Mutation_p.V558A	p.V543A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	15	1728	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	543			ANK 16.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1628T>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	8.223	0.802856	0.16397	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.63096	-0.02;2.41;-0.02;2.41;-0.02;-0.02;-0.02	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.45606	D	0.000348	T	0.57198	0.2037	N	0.17764	0.52	0.80722	D	1	B;B;B;P;P	0.46987	0.374;0.228;0.323;0.488;0.888	B;B;B;B;P	0.53401	0.285;0.05;0.132;0.241;0.725	T	0.52290	-0.8595	10	0.09084	T	0.74	.	15.8229	0.78673	0.0:0.0:0.0:1.0	.	543;543;543;522;522	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	A	522;522;522;558;543;543;543;522	ENSP00000423799:V522A;ENSP00000421011:V522A;ENSP00000421067:V522A;ENSP00000424722:V558A;ENSP00000378044:V543A;ENSP00000349588:V543A;ENSP00000264366:V543A	ENSP00000264366:V543A	V	+	2	0	ANK2	114415199	1.000000	0.71417	0.911000	0.35937	0.649000	0.38597	6.083000	0.71326	2.126000	0.65437	0.528000	0.53228	GTG		PASS	0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		14	43	14	43	---	---	---	---
IL21	59067	broad.mit.edu	37	4	123542049	123542049	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:123542049G>T	ENST00000264497.3	-	1	175	c.118C>A	c.(118-120)Cgt>Agt	p.R40S	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	33					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)	p.R40S(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATAAGTTGACGCATTCTAATC	0.368																																						uc003ies.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CGT>AGT		interleukin 21							128.0	123.0	125.0					4																	123542049		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542049G>T	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.118C>A	4.37:g.123542049G>T	ENSP00000264497:p.Arg40Ser					uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.R33S	p.R40S	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN			1	163	-			33					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.118C>A	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909294	0.33721	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	1.33	0.21861	.	0.724719	0.12759	N	0.441510	T	0.44030	0.1274	M	0.66939	2.045	0.09310	N	1	B;B	0.23377	0.069;0.084	B;B	0.25884	0.038;0.064	T	0.45116	-0.9283	9	0.72032	D	0.01	-2.9323	6.7784	0.23632	0.1404:0.0:0.4944:0.3651	.	33;33	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	S	40	.	ENSP00000264497:R40S	R	-	1	0	IL21	123761499	0.946000	0.32159	0.988000	0.46212	0.995000	0.86356	1.299000	0.33424	0.284000	0.22305	0.655000	0.94253	CGT		PASS	0.368	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		11	54	11	54	---	---	---	---
NPY2R	4887	broad.mit.edu	37	4	156135368	156135368	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:156135368G>T	ENST00000329476.3	+	2	766	c.277G>T	c.(277-279)Gct>Tct	p.A93S	NPY2R_ENST00000506608.1_Missense_Mutation_p.A93S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	93					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.A93S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGCCAATCTGGCTGTGGCAGA	0.473																																						uc003ioq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(277-279)GCT>TCT		neuropeptide Y receptor Y2							101.0	102.0	101.0					4																	156135368		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135368G>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.277G>T	4.37:g.156135368G>T	ENSP00000332591:p.Ala93Ser					NPY2R_uc003ior.2_Missense_Mutation_p.A93S	p.A93S	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	772	+	all_hematologic(180;0.24)	Renal(120;0.0854)	93			Helical; Name=2; (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.277G>T	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698334	0.88830	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.51325	0.71;0.71	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66810	-0.5829	10	0.32370	T	0.25	.	18.7615	0.91853	0.0:0.0:1.0:0.0	.	93	P49146	NPY2R_HUMAN	S	93	ENSP00000332591:A93S;ENSP00000426366:A93S	ENSP00000332591:A93S	A	+	1	0	NPY2R	156354818	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.732000	0.93576	0.643000	0.83706	GCT		PASS	0.473	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		4	24	4	24	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158224786	158224786	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:158224786C>T	ENST00000264426.9	+	3	591	c.312C>T	c.(310-312)tgC>tgT	p.C104C	GRIA2_ENST00000449365.1_Silent_p.C57C|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000296526.7_Silent_p.C104C|GRIA2_ENST00000507898.1_Silent_p.C57C|GRIA2_ENST00000393815.2_Silent_p.C57C	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	104					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.C104C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CATCATTTTGCGGAACACTCC	0.433																																						uc003ipm.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(310-312)TGC>TGT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						177.0	165.0	169.0					4																	158224786		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224786C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.312C>T	4.37:g.158224786C>T						GRIA2_uc011cit.1_Silent_p.C57C|GRIA2_uc003ipl.3_Silent_p.C104C|GRIA2_uc003ipk.3_Silent_p.C57C|GRIA2_uc010iqh.1_RNA	p.C104C	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	771	+	all_hematologic(180;0.24)	Renal(120;0.0458)	104			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.312C>T	CCDS43274.1																																																																																				PASS	0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			25	95	25	95	---	---	---	---
C4orf46	201725	broad.mit.edu	37	4	159590809	159590809	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:159590809C>G	ENST00000379205.4	-	2	542	c.298G>C	c.(298-300)Gac>Cac	p.D100H	ETFDH_ENST00000307738.5_5'Flank|C4orf46_ENST00000508836.1_5'UTR|C4orf46_ENST00000508457.1_3'UTR|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	100								p.D100H(1)		kidney(1)|lung(3)|skin(1)	5						TTCAAGAGGTCCCGCCACGTT	0.378																																						uc003iqa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(298-300)GAC>CAC		hypothetical protein LOC201725							95.0	92.0	93.0					4																	159590809		2203	4300	6503	SO:0001583	missense	201725							g.chr4:159590809C>G		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.298G>C	4.37:g.159590809C>G	ENSP00000368503:p.Asp100His					C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	p.D100H	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN			2	547	-			100					B3KNH7	Missense_Mutation	SNP	ENST00000379205.4	37	c.298G>C	CCDS34088.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408737	0.42715	.	.	ENSG00000205208	ENST00000379205	.	.	.	5.2	3.45	0.39498	.	0.479316	0.17528	N	0.170994	T	0.42245	0.1194	N	0.19112	0.55	0.80722	D	1	B	0.22683	0.073	B	0.25884	0.064	T	0.26849	-1.0091	9	0.54805	T	0.06	.	9.8735	0.41189	0.0:0.7826:0.1401:0.0774	.	100	Q504U0	CD046_HUMAN	H	100	.	ENSP00000368503:D100H	D	-	1	0	C4orf46	159810259	0.998000	0.40836	0.913000	0.36048	0.986000	0.74619	2.090000	0.41682	0.684000	0.31448	0.552000	0.68991	GAC		PASS	0.378	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		13	38	13	38	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160251607	160251607	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:160251607A>G	ENST00000264431.4	+	7	1360	c.941A>G	c.(940-942)aAa>aGa	p.K314R		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	314	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.K302R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GAAGTGGGCAAAAAGTTATTG	0.363																																						uc003iqg.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(940-942)AAA>AGA		Rap guanine nucleotide exchange factor 2							134.0	125.0	128.0					4																	160251607		1825	4079	5904	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251607A>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.941A>G	4.37:g.160251607A>G	ENSP00000264431:p.Lys314Arg						p.K314R	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	7	1251	+	all_hematologic(180;0.24)		314			N-terminal Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.941A>G	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642876	0.47153	.	.	ENSG00000109756	ENST00000264431	T	0.30981	1.51	5.78	4.59	0.56863	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.047167	0.85682	N	0.000000	T	0.19525	0.0469	N	0.20685	0.6	0.58432	D	0.999999	B	0.06786	0.001	B	0.15870	0.014	T	0.04840	-1.0923	10	0.20046	T	0.44	.	11.8922	0.52635	0.9318:0.0:0.0682:0.0	.	314	Q9Y4G8	RPGF2_HUMAN	R	314	ENSP00000264431:K314R	ENSP00000264431:K314R	K	+	2	0	RAPGEF2	160471057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.482000	0.60257	1.120000	0.41904	0.533000	0.62120	AAA		PASS	0.363	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		14	59	14	59	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162697178	162697178	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:162697178A>G	ENST00000306100.5	-	5	894	c.458T>C	c.(457-459)tTa>tCa	p.L153S	FSTL5_ENST00000536695.1_Missense_Mutation_p.L152S|FSTL5_ENST00000427802.2_Missense_Mutation_p.L152S|FSTL5_ENST00000379164.4_Missense_Mutation_p.L152S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	153						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L153S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGTAAATCTAATAGCATATT	0.284																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(457-459)TTA>TCA		follistatin-like 5 isoform a							50.0	50.0	50.0					4																	162697178		2200	4293	6493	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697178A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.458T>C	4.37:g.162697178A>G	ENSP00000305334:p.Leu153Ser					FSTL5_uc003iqi.2_Missense_Mutation_p.L152S|FSTL5_uc010iqv.2_Missense_Mutation_p.L152S	p.L153S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	894	-	all_hematologic(180;0.24)		153					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.458T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	14.28	2.486854	0.44249	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74632	-0.84;-0.82;-0.86;-0.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.77103	2.36	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.87873	0.2672	10	0.87932	D	0	.	14.7157	0.69265	1.0:0.0:0.0:0.0	.	152;152;153	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	S	153;152;152;152	ENSP00000305334:L153S;ENSP00000368462:L152S;ENSP00000389270:L152S;ENSP00000440409:L152S	ENSP00000305334:L153S	L	-	2	0	FSTL5	162916628	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	7.127000	0.77210	2.121000	0.65114	0.528000	0.53228	TTA		PASS	0.284	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		9	21	9	21	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162697198	162697198	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:162697198G>T	ENST00000306100.5	-	5	874	c.438C>A	c.(436-438)agC>agA	p.S146R	FSTL5_ENST00000536695.1_Missense_Mutation_p.S145R|FSTL5_ENST00000427802.2_Missense_Mutation_p.S145R|FSTL5_ENST00000379164.4_Missense_Mutation_p.S145R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	146						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S146R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTTTCATCTTGCTGTATTCAG	0.279																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(436-438)AGC>AGA		follistatin-like 5 isoform a							44.0	43.0	43.0					4																	162697198		2200	4291	6491	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162697198G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.438C>A	4.37:g.162697198G>T	ENSP00000305334:p.Ser146Arg					FSTL5_uc003iqi.2_Missense_Mutation_p.S145R|FSTL5_uc010iqv.2_Missense_Mutation_p.S145R	p.S146R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	874	-	all_hematologic(180;0.24)		146					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.438C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665579	0.29604	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.73258	-0.72;-0.7;-0.73;-0.7	5.3	5.3	0.74995	.	0.347864	0.37623	N	0.002016	T	0.61413	0.2345	L	0.50919	1.6	0.35750	D	0.819382	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.09377	0.001;0.004;0.001	T	0.61347	-0.7081	10	0.21540	T	0.41	.	10.0173	0.42022	0.1556:0.0:0.8444:0.0	.	145;145;146	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	146;145;145;145	ENSP00000305334:S146R;ENSP00000368462:S145R;ENSP00000389270:S145R;ENSP00000440409:S145R	ENSP00000305334:S146R	S	-	3	2	FSTL5	162916648	0.965000	0.33210	1.000000	0.80357	0.939000	0.58152	1.350000	0.34010	2.625000	0.88918	0.650000	0.86243	AGC		PASS	0.279	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		6	19	6	19	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175897228	175897228	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:175897228T>A	ENST00000359240.3	+	5	1222	c.552T>A	c.(550-552)acT>acA	p.T184T	ADAM29_ENST00000404450.4_Silent_p.T184T|ADAM29_ENST00000445694.1_Silent_p.T184T|ADAM29_ENST00000514159.1_Silent_p.T184T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	184					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T184T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATAATTCCACTCAGAAGCAAA	0.358																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(550-552)ACT>ACA		ADAM metallopeptidase domain 29 preproprotein							82.0	84.0	84.0					4																	175897228		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897228T>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.552T>A	4.37:g.175897228T>A						ADAM29_uc003iud.2_Silent_p.T184T|ADAM29_uc010irr.2_Silent_p.T184T|ADAM29_uc011cki.1_Silent_p.T184T	p.T184T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1222	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	184					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.552T>A	CCDS3823.1																																																																																				PASS	0.358	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				14	28	14	28	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	225549	225549	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:225549G>T	ENST00000264932.6	+	4	443	c.328G>T	c.(328-330)Gct>Tct	p.A110S	SDHA_ENST00000504309.1_Missense_Mutation_p.A110S|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	110					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.A110S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATCAATGCTGCTCTGGGGAA	0.567									Familial Paragangliomas																													uc003jao.3																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)GCT>TCT		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						72.0	79.0	76.0					5																	225549		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:225549G>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.328G>T	5.37:g.225549G>T	ENSP00000264932:p.Ala110Ser					SDHA_uc003jan.2_Missense_Mutation_p.A110S|SDHA_uc011clv.1_Missense_Mutation_p.A110S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.A110S|SDHA_uc003jaq.3_5'Flank	p.A110S	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		4	443	+			110					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.328G>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	17.52	3.410133	0.62399	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.70986	-0.53;-0.53	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.80675	0.4668	L	0.55743	1.74	0.80722	D	1	D;D;D;D	0.89917	0.971;1.0;0.972;0.972	D;D;D;D	0.87578	0.96;0.998;0.929;0.929	T	0.77477	-0.2573	10	0.31617	T	0.26	.	16.8084	0.85712	0.0:0.0:1.0:0.0	.	110;110;110;116	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	S	110	ENSP00000264932:A110S;ENSP00000426514:A110S	ENSP00000264932:A110S	A	+	1	0	SDHA	278549	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.125000	0.94402	2.645000	0.89757	0.644000	0.83932	GCT		PASS	0.567	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		21	77	21	77	---	---	---	---
SLC9A3	6550	broad.mit.edu	37	5	482830	482830	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:482830G>T	ENST00000264938.3	-	7	1198	c.1189C>A	c.(1189-1191)Cgc>Agc	p.R397S	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R397S|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	397					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)	p.R397S(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCACCATGCGGTAGCGGTTC	0.692																																						uc003jbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)CGC>AGC		solute carrier family 9 (sodium/hydrogen							34.0	37.0	36.0					5																	482830		2201	4299	6500	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482830G>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1189C>A	5.37:g.482830G>T	ENSP00000264938:p.Arg397Ser					SLC9A3_uc011clx.1_Missense_Mutation_p.R397S	p.R397S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		7	1301	-			397			Extracellular (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1189C>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060746	0.36373	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.63913	0.33;-0.07	4.13	3.24	0.37175	Cation/H+ exchanger (1);	0.142736	0.44285	D	0.000471	T	0.80171	0.4574	M	0.88181	2.935	0.45464	D	0.99843	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81803	-0.0765	10	0.87932	D	0	.	10.8301	0.46654	0.0:0.0:0.4832:0.5168	.	397;397	E9PF67;P48764	.;SL9A3_HUMAN	S	397	ENSP00000264938:R397S;ENSP00000422983:R397S	ENSP00000264938:R397S	R	-	1	0	SLC9A3	535830	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.244000	0.32778	0.683000	0.31428	0.561000	0.74099	CGC		PASS	0.692	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		9	12	9	12	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6620312	6620312	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:6620312T>C	ENST00000264670.6	-	7	1033	c.722A>G	c.(721-723)cAt>cGt	p.H241R	NSUN2_ENST00000506139.1_Missense_Mutation_p.H206R|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_Missense_Mutation_p.H5R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	241					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.H241R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGAGGCATCATGGTTGACCAC	0.498																																						uc003jdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)CAT>CGT		NOL1/NOP2/Sun domain family, member 2							104.0	103.0	103.0					5																	6620312		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620312T>C	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.722A>G	5.37:g.6620312T>C	ENSP00000264670:p.His241Arg					NSUN2_uc003jdt.2_Missense_Mutation_p.H5R|NSUN2_uc011cmk.1_Missense_Mutation_p.H206R|NSUN2_uc003jdv.2_Missense_Mutation_p.H5R	p.H241R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	787	-			241					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.722A>G	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118901	0.77323	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.40225	1.04;3.02;1.07	6.02	6.02	0.97574	.	0.083182	0.85682	D	0.000000	T	0.64692	0.2621	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.989;0.995	T	0.65717	-0.6100	10	0.52906	T	0.07	-45.8093	16.5446	0.84426	0.0:0.0:0.0:1.0	.	206;241	B4DQW2;Q08J23	.;NSUN2_HUMAN	R	241;5;206	ENSP00000264670:H241R;ENSP00000444338:H5R;ENSP00000420957:H206R	ENSP00000264670:H241R	H	-	2	0	NSUN2	6673312	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	7.575000	0.82447	2.311000	0.77944	0.533000	0.62120	CAT		PASS	0.498	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		12	79	12	79	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755026	6755026	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:6755026C>G	ENST00000230859.6	+	13	1726	c.1597C>G	c.(1597-1599)Cgg>Ggg	p.R533G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	763					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.R533G(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CACACACACACGGGACAGTCT	0.662																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1597-1599)CGG>GGG		DNA polymerase sigma							26.0	28.0	28.0					5																	6755026		2203	4298	6501	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755026C>G	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1597C>G	5.37:g.6755026C>G	ENSP00000230859:p.Arg533Gly					PAPD7_uc011cmn.1_Missense_Mutation_p.R523G|PAPD7_uc010itl.1_Missense_Mutation_p.R353G	p.R533G	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			13	1726	+			533					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1597C>G	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506849	0.64410	.	.	ENSG00000112941	ENST00000230859	T	0.47869	0.83	4.96	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	L	0.27053	0.805	0.44409	D	0.997327	D;D	0.63880	0.993;0.993	D;D	0.74023	0.982;0.982	T	0.52049	-0.8627	10	0.72032	D	0.01	-12.5728	13.7271	0.62765	0.3262:0.6738:0.0:0.0	.	532;533	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	G	533	ENSP00000230859:R533G	ENSP00000230859:R533G	R	+	1	2	PAPD7	6808026	0.974000	0.33945	0.422000	0.26621	0.974000	0.67602	0.551000	0.23361	-0.226000	0.09899	-0.181000	0.13052	CGG		PASS	0.662	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		10	19	10	19	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21760770	21760770	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:21760770G>T	ENST00000382254.1	-	13	2616	c.1530C>A	c.(1528-1530)gtC>gtA	p.V510V	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.V510V|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.V470V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V510V(1)		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						CTGCAGCACTGACTATCTGAA	0.403										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1528-1530)GTC>GTA		cadherin 12, type 2 preproprotein							117.0	123.0	121.0					5																	21760770		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21760770G>T	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.1530C>A	5.37:g.21760770G>T		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.V470V|CDH12_uc003jgk.2_Silent_p.V510V|uc003jgj.2_Intron	p.V510V	NM_004061	NP_004052	P55289	CAD12_HUMAN			10	1988	-			510			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.1530C>A	CCDS3890.1																																																																																				PASS	0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		28	111	28	111	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975451	21975451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:21975451G>T	ENST00000382254.1	-	6	1361	c.275C>A	c.(274-276)aCc>aAc	p.T92N	CDH12_ENST00000504376.2_Missense_Mutation_p.T92N|CDH12_ENST00000522262.1_Missense_Mutation_p.T92N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	92	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.T92N(1)		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						TCCTGAGAGGGTGTATTTCAC	0.463										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(274-276)ACC>AAC		cadherin 12, type 2 preproprotein							65.0	66.0	66.0					5																	21975451		2046	3883	5929	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975451G>T	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.275C>A	5.37:g.21975451G>T	ENSP00000371689:p.Thr92Asn	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.T92N|CDH12_uc003jgk.2_Missense_Mutation_p.T92N	p.T92N	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	733	-			92			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.275C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824633	0.90955	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51071	0.72;0.72;0.72	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	L	0.56396	1.775	0.58432	D	0.999999	P;D	0.76494	0.888;0.999	P;D	0.81914	0.664;0.995	T	0.69910	-0.5017	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	92;92	B7Z2U6;P55289	.;CAD12_HUMAN	N	92	ENSP00000423577:T92N;ENSP00000371689:T92N;ENSP00000428786:T92N	ENSP00000371689:T92N	T	-	2	0	CDH12	22011208	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.318000	0.72866	2.414000	0.81942	0.484000	0.47621	ACC		PASS	0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		19	80	19	80	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078648	22078648	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:22078648C>A	ENST00000382254.1	-	5	1224	c.138G>T	c.(136-138)cgG>cgT	p.R46R	CDH12_ENST00000504376.2_Silent_p.R46R|CDH12_ENST00000522262.1_Silent_p.R46R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	46					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.R46R(1)		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						GGAAATGTGACCGTTGTCCTG	0.473										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(136-138)CGG>CGT		cadherin 12, type 2 preproprotein							199.0	194.0	196.0					5																	22078648		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078648C>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.138G>T	5.37:g.22078648C>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.R46R|CDH12_uc003jgk.2_Silent_p.R46R	p.R46R	NM_004061	NP_004052	P55289	CAD12_HUMAN			2	596	-			46					B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.138G>T	CCDS3890.1																																																																																				PASS	0.473	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		38	154	38	154	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33936910	33936910	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:33936910C>G	ENST00000330120.3	+	1	420	c.65C>G	c.(64-66)gCa>gGa	p.A22G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	22					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.A22G(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GACAAGCTAGCAGAACTCTTC	0.607																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(64-66)GCA>GGA		relaxin/insulin-like family peptide receptor 3							76.0	83.0	80.0					5																	33936910		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33936910C>G	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.65C>G	5.37:g.33936910C>G	ENSP00000328708:p.Ala22Gly						p.A22G	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	422	+			22			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.65C>G	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003861	0.19199	.	.	ENSG00000182631	ENST00000330120	T	0.71103	-0.54	5.24	5.24	0.73138	.	0.446648	0.16666	N	0.204589	T	0.57504	0.2058	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54036	-0.8353	10	0.59425	D	0.04	-1.5399	16.6867	0.85310	0.0:1.0:0.0:0.0	.	22	Q9NSD7	RL3R1_HUMAN	G	22	ENSP00000328708:A22G	ENSP00000328708:A22G	A	+	2	0	RXFP3	33972667	0.064000	0.20934	0.069000	0.20011	0.153000	0.21895	4.630000	0.61297	2.602000	0.87976	0.655000	0.94253	GCA		PASS	0.607	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		11	56	11	56	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35965865	35965865	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:35965865C>T	ENST00000274278.3	-	4	823	c.466G>A	c.(466-468)Gag>Aag	p.E156K	UGT3A1_ENST00000507113.1_Missense_Mutation_p.E122K|UGT3A1_ENST00000333811.4_Missense_Mutation_p.E102K|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E156K|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	156						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E156K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAGCTTCTCAGCAATCAGG	0.398																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(466-468)GAG>AAG		UDP glycosyltransferase 3 family, polypeptide A1							68.0	65.0	66.0					5																	35965865		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965865C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.466G>A	5.37:g.35965865C>T	ENSP00000274278:p.Glu156Lys					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.E156K|UGT3A1_uc011cor.1_Missense_Mutation_p.E122K|UGT3A1_uc003jjy.1_Missense_Mutation_p.E102K	p.E156K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	623	-	all_lung(31;0.000197)		156			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.466G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444003	0.83993	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	3.21	3.21	0.36854	.	0.163888	0.41097	D	0.000956	T	0.75087	0.3802	M	0.68952	2.095	0.38267	D	0.94203	D;P;P;P	0.89917	1.0;0.943;0.86;0.898	D;P;P;P	0.97110	1.0;0.823;0.8;0.823	T	0.77800	-0.2452	10	0.38643	T	0.18	.	14.0137	0.64513	0.0:1.0:0.0:0.0	.	122;156;102;156	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	K	156;156;122;102	ENSP00000274278:E156K;ENSP00000427079:E156K;ENSP00000426100:E122K;ENSP00000328033:E102K	ENSP00000274278:E156K	E	-	1	0	UGT3A1	36001622	0.994000	0.37717	0.994000	0.49952	0.732000	0.41865	2.382000	0.44345	1.725000	0.51514	0.313000	0.20887	GAG		PASS	0.398	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		20	62	20	62	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36035849	36035849	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:36035849C>T	ENST00000282507.3	-	7	1624	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G474D|UGT3A2_ENST00000545528.1_Missense_Mutation_p.G206D	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	508					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.G508D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACAGCCATGCCCAGCAGCTT	0.582																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1522-1524)GGC>GAC		UDP glycosyltransferase 3 family, polypeptide A2							61.0	54.0	56.0					5																	36035849		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36035849C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1523G>A	5.37:g.36035849C>T	ENSP00000282507:p.Gly508Asp					UGT3A2_uc011cos.1_Missense_Mutation_p.G474D|UGT3A2_uc011cot.1_Missense_Mutation_p.G206D	p.G508D	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1616	-	all_lung(31;0.000179)		508			Cytoplasmic (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.1523G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	6.815	0.519537	0.13005	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;D	0.84146	-0.01;-0.22;-1.81	2.63	0.643	0.17770	.	0.998913	0.08098	U	0.998327	D	0.89121	0.6625	M	0.70595	2.14	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.74009	-0.3802	10	0.41790	T	0.15	.	2.8546	0.05568	0.1846:0.5212:0.1805:0.1137	.	474;508	E9PFK7;Q3SY77	.;UD3A2_HUMAN	D	508;474;206	ENSP00000282507:G508D;ENSP00000427404:G474D;ENSP00000445367:G206D	ENSP00000282507:G508D	G	-	2	0	UGT3A2	36071606	0.000000	0.05858	0.129000	0.21949	0.008000	0.06430	0.135000	0.15952	0.133000	0.18654	0.563000	0.77884	GGC		PASS	0.582	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		5	34	5	34	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852718	40852718	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:40852718G>T	ENST00000254691.5	+	3	1483	c.1284G>T	c.(1282-1284)gtG>gtT	p.V428V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	428					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.V428V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAGACATTGTGAAGAAGCAGT	0.453																																						uc003jmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1282-1284)GTG>GTT		caspase recruitment domain family, member 6							69.0	73.0	72.0					5																	40852718		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852718G>T	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1284G>T	5.37:g.40852718G>T							p.V428V	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1359	+			428					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1284G>T	CCDS3935.1																																																																																				PASS	0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			19	66	19	66	---	---	---	---
C7	730	broad.mit.edu	37	5	40972654	40972654	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:40972654A>G	ENST00000313164.9	+	15	2391	c.2032A>G	c.(2032-2034)Aag>Gag	p.K678E	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	678	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K678E(1)					Ovarian(839;0.0112)				CTCCAGCCTTAAGTGGAGTCC	0.488																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2032-2034)AAG>GAG		complement component 7 precursor							184.0	176.0	178.0					5																	40972654		2004	4196	6200	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40972654A>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2032A>G	5.37:g.40972654A>G	ENSP00000322061:p.Lys678Glu					C7_uc011cpn.1_RNA	p.K678E	NM_000587	NP_000578	P10643	CO7_HUMAN			15	2146	+		Ovarian(839;0.0112)	678			Sushi 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2032A>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.729006	0.89390	.	.	ENSG00000112936	ENST00000313164	T	0.62639	0.01	5.93	5.93	0.95920	Complement control module (2);Sushi/SCR/CCP (3);	0.265496	0.37577	N	0.002039	T	0.73426	0.3585	L	0.52759	1.655	0.40897	D	0.984123	D	0.76494	0.999	D	0.69824	0.966	T	0.71626	-0.4536	10	0.31617	T	0.26	-26.6328	16.0486	0.80740	1.0:0.0:0.0:0.0	.	678	P10643	CO7_HUMAN	E	678	ENSP00000322061:K678E	ENSP00000322061:K678E	K	+	1	0	C7	41008411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.238000	0.72350	2.270000	0.75569	0.482000	0.46254	AAG		PASS	0.488	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			25	174	25	174	---	---	---	---
TAF9	6880	broad.mit.edu	37	5	68661332	68661332	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:68661332C>A	ENST00000328663.4	-	3	699	c.233G>T	c.(232-234)cGc>cTc	p.R78L	TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.R78L|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.R78L|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	78					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R78L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CTGATCAGCGCGGCACTGGAT	0.408																																						uc003jwc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CGC>CTC		TAF9 RNA polymerase II, TATA box binding							96.0	94.0	95.0					5																	68661332		2203	4300	6503	SO:0001583	missense	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68661332C>A	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.233G>T	5.37:g.68661332C>A	ENSP00000370193:p.Arg78Leu					TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R78L|TAF9_uc003jwe.1_Missense_Mutation_p.R78L|TAF9_uc003jwf.1_Missense_Mutation_p.R78L	p.R78L	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	565	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	78					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	37	c.233G>T	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197923	0.79015	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.69	5.69	0.88448	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	P	0.48982	0.597	T	0.51403	-0.8710	10	0.52906	T	0.07	-5.3715	17.6752	0.88228	0.0:1.0:0.0:0.0	.	78	Q16594	TAF9_HUMAN	L	78	ENSP00000421873:R78L;ENSP00000370193:R78L;ENSP00000217893:R78L;ENSP00000425944:R78L;ENSP00000427343:R78L;ENSP00000426283:R78L;ENSP00000425798:R78L;ENSP00000427617:R78L	ENSP00000217893:R78L	R	-	2	0	TAF9	68697088	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.204000	0.77872	2.860000	0.98153	0.655000	0.94253	CGC		PASS	0.408	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		20	51	20	51	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70806636	70806636	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:70806636G>T	ENST00000358731.4	+	17	3980	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1239	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K1239N(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGGGAAAAGGTGCTAGCAG	0.403																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3715-3717)AAG>AAT		transcription factor-like nuclear regulator							109.0	110.0	110.0					5																	70806636		1834	4080	5914	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806636G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3717G>T	5.37:g.70806636G>T	ENSP00000351575:p.Lys1239Asn					BDP1_uc003kbn.1_Missense_Mutation_p.K1239N|BDP1_uc003kbo.2_Missense_Mutation_p.K1239N	p.K1239N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3980	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1239			Potential.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3717G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697304	0.48202	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19669	2.13	3.71	-1.78	0.07957	.	1.707590	0.03396	N	0.202697	T	0.17152	0.0412	L	0.56769	1.78	0.09310	N	0.999998	B;P;B	0.39181	0.025;0.663;0.404	B;B;B	0.33196	0.018;0.159;0.101	T	0.19811	-1.0294	10	0.54805	T	0.06	.	0.5817	0.00713	0.316:0.1556:0.3427:0.1856	.	1239;1239;1239	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	1239;819	ENSP00000351575:K1239N	ENSP00000351575:K1239N	K	+	3	2	BDP1	70842392	0.000000	0.05858	0.000000	0.03702	0.765000	0.43378	-0.611000	0.05622	-0.389000	0.07786	0.313000	0.20887	AAG		PASS	0.403	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		7	137	7	137	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115336143	115336144	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:115336143_115336144CC>AA	ENST00000357872.4	+	8	1653_1654	c.1529_1530CC>AA	c.(1528-1530)gCC>gAA	p.A510E	AQPEP_ENST00000395528.2_Missense_Mutation_p.A27E	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		510						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A510A(1)|p.A510D(1)|p.A510E(1)									GCGTCTATGGCCCGGATGCTTT	0.381																																						uc003kro.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1528-1530)GCC>GAC|c.(1528-1530)GCC>GCA		laeverin																																				SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115336143C>A|g.chr5:115336144C>A																												Exception_encountered	5.37:g.115336143_115336144delinsAA	ENSP00000350541:p.Ala510Glu					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.A510D|p.A510A	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			8	1693|1694	+			510			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation|Silent	SNP	ENST00000357872.4	37	c.1529C>A|c.1530C>A	CCDS4124.1																																																																																				PASS	0.381	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			18	43|42	18	42	---	---	---	---
CDKL3	51265	broad.mit.edu	37	5	133638306	133638306	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:133638306A>G	ENST00000265334.4	-	12	1812	c.1694T>C	c.(1693-1695)gTg>gCg	p.V565A	CDKL3_ENST00000435240.2_Missense_Mutation_p.V270A|CDKL3_ENST00000521118.1_Missense_Mutation_p.V565A|CDKL3_ENST00000523054.1_Missense_Mutation_p.V376A|CDKL3_ENST00000536186.1_Missense_Mutation_p.V270A|CDKL3_ENST00000609654.1_Missense_Mutation_p.V376A|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_3'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	565					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.V565A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTTGATCCACGTTAAGTAA	0.299																																						uc003kzf.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1693-1695)GTG>GCG		cyclin-dependent kinase-like 3 isoform 1							134.0	115.0	121.0					5																	133638306		1567	3575	5142	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133638306A>G	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1694T>C	5.37:g.133638306A>G	ENSP00000265334:p.Val565Ala					CDKL3_uc011cxm.1_Missense_Mutation_p.V372A|CDKL3_uc011cxn.1_RNA|CDKL3_uc010jdw.2_Missense_Mutation_p.V172A|CDKL3_uc011cxo.1_Missense_Mutation_p.V270A|CDKL3_uc011cxp.1_Missense_Mutation_p.V270A|CDKL3_uc011cxq.1_Missense_Mutation_p.V372A	p.V565A	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1813	-			565					D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.1694T>C	CCDS47264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.75|11.75	1.733130|1.733130	0.30684|0.30684	.|.	.|.	ENSG00000006837|ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118|ENST00000518990	T;T;T;T;T|.	0.75938|.	0.64;0.57;-0.91;-0.75;-0.98|.	5.63|5.63	3.28|3.28	0.37604|0.37604	.|.	0.792663|.	0.11274|.	N|.	0.581069|.	T|T	0.35098|0.35098	0.0920|0.0920	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.17268|.	0.021;0.001;0.004;0.011;0.002|.	B;B;B;B;B|.	0.26310|.	0.013;0.002;0.007;0.068;0.004|.	T|T	0.05402|0.05402	-1.0887|-1.0887	10|5	0.49607|.	T|.	0.09|.	-25.3507|-25.3507	7.3518|7.3518	0.26695|0.26695	0.8176:0.0:0.1824:0.0|0.8176:0.0:0.1824:0.0	.|.	376;270;270;376;565|.	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4|.	.;.;.;.;CDKL3_HUMAN|.	A|R	270;270;565;376;565|31	ENSP00000441545:V270A;ENSP00000399807:V270A;ENSP00000265334:V565A;ENSP00000428500:V376A;ENSP00000428689:V565A|.	ENSP00000265334:V565A|.	V|W	-|-	2|1	0|0	CDKL3|CDKL3	133666205|133666205	0.968000|0.968000	0.33430|0.33430	0.830000|0.830000	0.32933|0.32933	0.862000|0.862000	0.49288|0.49288	1.266000|1.266000	0.33039|0.33039	0.432000|0.432000	0.26286|0.26286	-0.256000|-0.256000	0.11100|0.11100	GTG|TGG		PASS	0.299	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		3	4	3	4	---	---	---	---
CDC25C	995	broad.mit.edu	37	5	137621721	137621721	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:137621721G>A	ENST00000323760.6	-	13	1540	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	CDC25C_ENST00000514555.1_Missense_Mutation_p.P391L|CDC25C_ENST00000357274.3_Missense_Mutation_p.P378L|CDC25C_ENST00000348983.3_Missense_Mutation_p.P348L|CDC25C_ENST00000415130.2_Missense_Mutation_p.P348L|CDC25C_ENST00000513970.1_Missense_Mutation_p.P421L|CDC25C_ENST00000356505.3_Missense_Mutation_p.P391L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	421	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.P421L(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATATATTCTGGAAAGAAGTC	0.502																																						uc003lcp.1																			1	Substitution - Missense(1)		lung(1)	lung(3)	3						c.(1261-1263)CCA>CTA		cell division cycle 25C isoform a							91.0	96.0	94.0					5																	137621721		2203	4300	6503	SO:0001583	missense	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137621721G>A	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1262C>T	5.37:g.137621721G>A	ENSP00000321656:p.Pro421Leu					CDC25C_uc003lcq.1_Missense_Mutation_p.P348L|CDC25C_uc003lcr.1_Missense_Mutation_p.P421L|CDC25C_uc011cyp.1_Missense_Mutation_p.P438L|CDC25C_uc003lcs.1_Missense_Mutation_p.P499L	p.P421L	NM_001790	NP_001781	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		13	1533	-			421			Rhodanese.		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	c.1262C>T	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971747	0.18736	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.11	3.32	0.38043	Rhodanese-like (4);	0.183316	0.37219	N	0.002184	T	0.17280	0.0415	N	0.17278	0.47	0.58432	D	0.999995	B;B;B;B	0.19200	0.027;0.027;0.024;0.034	B;B;B;B	0.23852	0.014;0.029;0.009;0.049	T	0.06373	-1.0830	10	0.24483	T	0.36	-34.1138	8.2919	0.31963	0.2363:0.0:0.7637:0.0	.	438;391;348;421	G3V1P6;P30307-2;P30307-4;P30307	.;.;.;MPIP3_HUMAN	L	421;391;378;348;348;421;438;391	ENSP00000321656:P421L;ENSP00000348898:P391L;ENSP00000349821:P378L;ENSP00000345205:P348L;ENSP00000392631:P348L;ENSP00000424795:P421L;ENSP00000425470:P391L	ENSP00000321656:P421L	P	-	2	0	CDC25C	137649620	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.351000	0.34022	1.533000	0.49186	0.655000	0.94253	CCA		PASS	0.502	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			18	41	18	41	---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137878583	137878583	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:137878583C>T	ENST00000360541.5	-	2	246	c.25G>A	c.(25-27)Gac>Aac	p.D9N	ETF1_ENST00000499810.2_5'UTR|ETF1_ENST00000514005.1_5'Flank|ETF1_ENST00000503014.1_5'Flank	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.D9N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACGTTCCTGTCGGCAGCACTG	0.667																																						uc003ldc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(25-27)GAC>AAC		eukaryotic translation termination factor 1							36.0	35.0	35.0					5																	137878583		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137878583C>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.25G>A	5.37:g.137878583C>T	ENSP00000353741:p.Asp9Asn					ETF1_uc011cyv.1_5'Flank|ETF1_uc010jex.2_RNA|ETF1_uc003ldd.3_5'UTR	p.D9N	NM_004730	NP_004721	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	190	-			9					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.25G>A	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279928	0.80692	.	.	ENSG00000120705	ENST00000360541	.	.	.	5.95	5.95	0.96441	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	L	0.58510	1.815	0.80722	D	1	B	0.24651	0.108	B	0.25506	0.061	T	0.60042	-0.7340	9	0.30854	T	0.27	-7.4673	19.9802	0.97323	0.0:1.0:0.0:0.0	.	9	P62495	ERF1_HUMAN	N	9	.	ENSP00000353741:D9N	D	-	1	0	ETF1	137906482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.587000	0.67510	2.824000	0.97209	0.650000	0.86243	GAC		PASS	0.667	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		11	10	11	10	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176677	140176677	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:140176677C>T	ENST00000526136.1	+	1	2128	c.2128C>T	c.(2128-2130)Ctg>Ttg	p.L710L	PCDHA2_ENST00000520672.2_Silent_p.L710L|PCDHA2_ENST00000378132.1_Silent_p.L710L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	710					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.L710L(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)			GGTATCCAGCCTGTTGGTGCT	0.682																																						uc003lhd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2128-2130)CTG>TTG		protocadherin alpha 2 isoform 1 precursor							86.0	85.0	86.0					5																	140176677		2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176677C>T	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.2128C>T	5.37:g.140176677C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L710L|PCDHA2_uc011czy.1_Silent_p.L710L	p.L710L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2234	+			710			Helical; (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2128C>T	CCDS54914.1																																																																																				PASS	0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		23	48	23	48	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182453	140182453	+	Silent	SNP	C	C	T	rs199682432		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:140182453C>T	ENST00000522353.2	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.D557D|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D557D(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)			TCGTGCTGGACGAGAACGACA	0.687																																						uc003lhf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(2)	8						c.(1669-1671)GAC>GAT		protocadherin alpha 3 isoform 1 precursor							93.0	92.0	93.0					5																	140182453		2203	4298	6501	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182453C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1671C>T	5.37:g.140182453C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.D557D	p.D557D	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1671	+			557			Cadherin 5.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1671C>T	CCDS54915.1																																																																																				PASS	0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		18	41	18	41	---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140966626	140966626	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:140966626G>C	ENST00000398557.4	-	3	423	c.283C>G	c.(283-285)Ctc>Gtc	p.L95V	DIAPH1_ENST00000398566.3_Missense_Mutation_p.L86V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L95V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L86V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.L86V|DIAPH1_ENST00000253811.6_Missense_Mutation_p.L95V|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L86V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L41V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	95	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.L95V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCAAAGAGAACCAGCACT	0.428																																						uc003llb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(283-285)CTC>GTC		diaphanous 1 isoform 1							167.0	151.0	156.0					5																	140966626		1889	4117	6006	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140966626G>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.283C>G	5.37:g.140966626G>C	ENSP00000381565:p.Leu95Val					DIAPH1_uc003llc.3_Missense_Mutation_p.L86V	p.L95V	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	424	-			95			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.283C>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234315	0.79688	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.01	5.01	0.66863	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000011	D	0.94814	0.8325	M	0.76170	2.325	0.54753	D	0.999989	D;D	0.55605	0.972;0.972	D;D	0.68483	0.958;0.958	D	0.94692	0.7875	10	0.51188	T	0.08	.	17.4506	0.87591	0.0:0.0:1.0:0.0	.	86;95	E9PEZ2;O60610	.;DIAP1_HUMAN	V	95;41;86;86;86;95;95;86;41	ENSP00000373706:L95V;ENSP00000429282:L41V;ENSP00000381570:L86V;ENSP00000373709:L86V;ENSP00000381572:L86V;ENSP00000381565:L95V;ENSP00000253811:L95V;ENSP00000428268:L86V;ENSP00000430587:L41V	ENSP00000253811:L95V	L	-	1	0	DIAPH1	140946810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.452000	0.73485	2.475000	0.83589	0.655000	0.94253	CTC		PASS	0.428	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		25	45	25	45	---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148577924	148577924	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:148577924C>A	ENST00000506113.1	+	3	776	c.294C>A	c.(292-294)ggC>ggA	p.G98G	RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Silent_p.G98G|ABLIM3_ENST00000504238.1_Silent_p.G98G|ABLIM3_ENST00000356541.3_Silent_p.G98G|ABLIM3_ENST00000309868.7_Silent_p.G98G|ABLIM3_ENST00000508983.1_Silent_p.G98G			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	98	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.G98G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCCTGGGCCGCACTTACC	0.632																																						uc003lpy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(292-294)GGC>GGA		actin binding LIM protein family, member 3							55.0	50.0	52.0					5																	148577924		2203	4300	6503	SO:0001819	synonymous_variant	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148577924C>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.294C>A	5.37:g.148577924C>A						ABLIM3_uc003lpz.1_Silent_p.G98G|ABLIM3_uc003lqa.1_Missense_Mutation_p.A80D|ABLIM3_uc003lqb.2_Silent_p.G98G|ABLIM3_uc003lqc.1_Silent_p.G98G|ABLIM3_uc003lqd.1_Silent_p.G98G|ABLIM3_uc003lqf.2_Silent_p.G98G|ABLIM3_uc003lqe.1_Silent_p.G98G	p.G98G	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	545	+			98			LIM zinc-binding 2.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	ENST00000506113.1	37	c.294C>A	CCDS4294.1																																																																																				PASS	0.632	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		9	14	9	14	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161128573	161128573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr5:161128573G>T	ENST00000274545.5	+	9	1589	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	GABRA6_ENST00000523217.1_Nonsense_Mutation_p.E376*			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	386					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E386*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTCATCTTCCGAGGCCAATAA	0.453										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1156-1158)GAG>TAG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						105.0	105.0	105.0					5																	161128573		2203	4300	6503	SO:0001587	stop_gained	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128573G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1156G>T	5.37:g.161128573G>T	ENSP00000274545:p.Glu386*	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Nonsense_Mutation_p.E157*	p.E386*	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1494	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	386			Cytoplasmic (Probable).		A8K096|Q4VAV2	Nonsense_Mutation	SNP	ENST00000274545.5	37	c.1156G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008108	0.75046	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	.	.	.	5.16	3.38	0.38709	.	1.588870	0.03132	N	0.165383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.2615	0.54652	0.1398:0.0:0.8602:0.0	.	.	.	.	X	386;376	.	ENSP00000274545:E386X	E	+	1	0	GABRA6	161061151	1.000000	0.71417	0.026000	0.17262	0.011000	0.07611	3.694000	0.54742	0.691000	0.31592	-0.119000	0.15052	GAG		PASS	0.453	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			27	30	27	30	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55620414	55620414	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:55620414A>G	ENST00000370830.3	-	7	1980	c.1282T>C	c.(1282-1284)Tct>Cct	p.S428P	BMP5_ENST00000446683.2_Missense_Mutation_p.S391P	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	428					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.S428P(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACAGAACAGAGATGGCATTT	0.348																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1282-1284)TCT>CCT		bone morphogenetic protein 5 preproprotein							110.0	110.0	110.0					6																	55620414		2203	4299	6502	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55620414A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1282T>C	6.37:g.55620414A>G	ENSP00000359866:p.Ser428Pro					BMP5_uc011dxf.1_Missense_Mutation_p.S391P	p.S428P	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		7	1994	-	Lung NSC(77;0.0462)		428					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1282T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192152	0.78902	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89810	-2.57;-2.57	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91359	0.5110	10	0.49607	T	0.09	.	16.3197	0.82945	1.0:0.0:0.0:0.0	.	391;428	B4E0Y4;P22003	.;BMP5_HUMAN	P	428;391	ENSP00000359866:S428P;ENSP00000391818:S391P	ENSP00000359866:S428P	S	-	1	0	BMP5	55728373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.302000	0.77476	0.533000	0.62120	TCT		PASS	0.348	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			27	30	27	30	---	---	---	---
DST	667	broad.mit.edu	37	6	56335002	56335002	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:56335002T>A	ENST00000361203.3	-	91	21447	c.21440A>T	c.(21439-21441)tAt>tTt	p.Y7147F	DST_ENST00000244364.6_Missense_Mutation_p.Y4844F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.Y5143F|DST_ENST00000446842.2_Missense_Mutation_p.Y6932F|DST_ENST00000370788.2_Missense_Mutation_p.Y5061F|DST_ENST00000370769.4_Missense_Mutation_p.Y7258F|DST_ENST00000370754.5_Missense_Mutation_p.Y7436F			Q03001	DYST_HUMAN	dystonin	7256					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.Y4844F(1)|p.Y7231F(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)			TACAAATTCATAGTAGTCAAT	0.403																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(16042-16044)TAT>TTT		dystonin isoform 2							95.0	89.0	91.0					6																	56335002		1902	4137	6039	SO:0001583	missense	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.chr6:56335002T>A	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	ENST00000361203.3:c.21440A>T	6.37:g.56335002T>A	ENSP00000354508:p.Tyr7147Phe					DST_uc003pcz.3_Missense_Mutation_p.Y5170F|DST_uc011dxj.1_Missense_Mutation_p.Y5199F|DST_uc011dxk.1_Missense_Mutation_p.Y5210F|DST_uc003pcy.3_Missense_Mutation_p.Y4844F|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'Flank	p.Y5348F	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		90	16071	-	Lung NSC(77;0.103)		7256			EF-hand 2.|2 (Potential).		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.16043A>T		.	.	.	.	.	.	.	.	.	.	T	22.2	4.253837	0.80135	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.56	5.56	0.83823	EF-hand-like domain (1);	0.000000	0.45606	D	0.000360	T	0.77877	0.4196	L	0.57536	1.79	0.30230	N	0.7960119999999999	D;D;D;D;D	0.89917	0.999;0.996;0.991;1.0;0.997	D;D;D;D;D	0.87578	0.992;0.997;0.989;0.998;0.992	T	0.81116	-0.1079	9	0.66056	D	0.02	.	15.7062	0.77583	0.0:0.0:0.0:1.0	.	5143;7258;7436;7256;4844	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	4844;7436;7258;5143;6932;5061;7147	ENSP00000244364:Y4844F;ENSP00000359790:Y7436F;ENSP00000359805:Y7258F;ENSP00000400883:Y5143F;ENSP00000393645:Y6932F;ENSP00000359824:Y5061F;ENSP00000354508:Y7147F	ENSP00000244364:Y4844F	Y	-	2	0	DST	56442961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.117000	0.64856	0.533000	0.62120	TAT		PASS	0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	14	17	14	---	---	---	---
RWDD2A	112611	broad.mit.edu	37	6	83905545	83905545	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:83905545T>C	ENST00000369724.4	+	3	638	c.433T>C	c.(433-435)Tct>Cct	p.S145P	PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.S91P|PGM3_ENST00000513973.1_5'Flank|PGM3_ENST00000512866.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	145								p.S145P(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATATGAACCATCTACACAAGC	0.428																																						uc003pjx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)TCT>CCT		RWD domain containing 2A							142.0	131.0	135.0					6																	83905545		2203	4300	6503	SO:0001583	missense	112611							g.chr6:83905545T>C	BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.433T>C	6.37:g.83905545T>C	ENSP00000358739:p.Ser145Pro					PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Missense_Mutation_p.S70P	p.S145P	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.045)	3	704	+		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)	145					B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	c.433T>C	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103171	0.06967	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	2.97	0.34412	.	0.436398	0.22419	N	0.060310	T	0.11196	0.0273	N	0.19112	0.55	0.09310	N	1	B	0.25521	0.128	B	0.21151	0.033	T	0.07404	-1.0774	9	0.49607	T	0.09	-20.5096	6.8089	0.23792	0.1182:0.0:0.3622:0.5196	.	145	Q9UIY3	RWD2A_HUMAN	P	145;91	.	ENSP00000358739:S145P	S	+	1	0	RWDD2A	83962264	0.011000	0.17503	0.102000	0.21198	0.004000	0.04260	1.668000	0.37481	2.254000	0.74563	0.533000	0.62120	TCT		PASS	0.428	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411		41	66	41	66	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88173891	88173891	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:88173891G>T	ENST00000507897.1	+	13	1875	c.1792G>T	c.(1792-1794)Gct>Tct	p.A598S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A598S|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	598								p.A598S(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GATTTACTTGGCTGGTCTTCG	0.468																																						uc003plv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1792-1794)GCT>TCT		hypothetical protein LOC154313 isoform 1							84.0	72.0	76.0					6																	88173891		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88173891G>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1792G>T	6.37:g.88173891G>T	ENSP00000426769:p.Ala598Ser					SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.A410S|C6orf165_uc010kbv.1_RNA	p.A598S	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	13	1884	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	598					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1792G>T	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237552	0.05944	.	.	ENSG00000213204	ENST00000369562	T	0.32272	1.46	5.68	5.68	0.88126	.	0.218500	0.48767	D	0.000173	T	0.11623	0.0283	L	0.39566	1.225	0.38707	D	0.953122	B	0.19331	0.035	B	0.15484	0.013	T	0.04440	-1.0951	10	0.08381	T	0.77	.	14.9438	0.71014	0.0701:0.0:0.9299:0.0	.	598	Q8IYR0	CF165_HUMAN	S	598	ENSP00000358575:A598S	ENSP00000358575:A598S	A	+	1	0	C6orf165	88230610	1.000000	0.71417	0.993000	0.49108	0.150000	0.21749	2.383000	0.44354	2.677000	0.91161	0.563000	0.77884	GCT		PASS	0.468	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		16	40	16	40	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651800	96651800	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:96651800C>T	ENST00000302103.5	+	3	1095	c.769C>T	c.(769-771)Cta>Tta	p.L257L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	257					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.L257L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CACGGAAAAGCTATACAATGC	0.343																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(769-771)CTA>TTA		fucosyltransferase 9 (alpha (1,3)							47.0	44.0	45.0					6																	96651800		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651800C>T	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.769C>T	6.37:g.96651800C>T							p.L257L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1110	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	257			Lumenal (Potential).		Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.769C>T	CCDS5033.1																																																																																				PASS	0.343	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		8	26	8	26	---	---	---	---
PREP	5550	broad.mit.edu	37	6	105825364	105825364	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:105825364C>G	ENST00000369110.3	-	3	343	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	51					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.V51L(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	AGAAATGGCACAGTAATCTTA	0.353																																						uc003prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(151-153)GTG>CTG		prolyl endopeptidase	Oxytocin(DB00107)						95.0	93.0	94.0					6																	105825364		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105825364C>G		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.151G>C	6.37:g.105825364C>G	ENSP00000358106:p.Val51Leu						p.V51L	NM_002726	NP_002717	P48147	PPCE_HUMAN			3	354	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	51					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.151G>C	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812019	0.32053	.	.	ENSG00000085377	ENST00000369110	T	0.44881	0.91	5.76	4.89	0.63831	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.241940	0.41823	D	0.000804	T	0.07098	0.0180	N	0.01352	-0.895	0.39317	D	0.965174	B	0.02656	0.0	B	0.01281	0.0	T	0.15065	-1.0450	10	0.25751	T	0.34	-16.8555	10.4377	0.44445	0.0:0.8553:0.0:0.1447	.	51	P48147	PPCE_HUMAN	L	51	ENSP00000358106:V51L	ENSP00000358106:V51L	V	-	1	0	PREP	105932057	0.730000	0.28100	0.982000	0.44146	0.979000	0.70002	1.374000	0.34283	2.700000	0.92200	0.650000	0.86243	GTG		PASS	0.353	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			17	38	17	38	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106973217	106973217	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:106973217T>A	ENST00000369066.3	+	4	3631	c.3144T>A	c.(3142-3144)tcT>tcA	p.S1048S		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.S1048S(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATTGCAGTTCTTGGAGCCTCT	0.398																																						uc003prh.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(3142-3144)TCT>TCA		absent in melanoma 1							194.0	199.0	198.0					6																	106973217		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106973217T>A	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3144T>A	6.37:g.106973217T>A							p.S1048S	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	4	3631	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1048			Beta/gamma crystallin 'Greek key' 1.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.3144T>A	CCDS34506.1																																																																																				PASS	0.398	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			34	67	34	67	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891957	132891957	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:132891957C>A	ENST00000275198.1	+	1	497	c.497C>A	c.(496-498)gCt>gAt	p.A166D		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	166					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A166V(1)|p.A166D(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TACAGCGGTGCTGTGTTCTAC	0.502																																						uc011eck.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(496-498)GCT>GAT		trace amine associated receptor 6							216.0	215.0	215.0					6																	132891957		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891957C>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.497C>A	6.37:g.132891957C>A	ENSP00000275198:p.Ala166Asp						p.A166D	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	497	+	Breast(56;0.112)		166			Helical; Name=4; (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.497C>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.209763	0.39003	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.38077	1.16	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.112705	0.33895	N	0.004443	T	0.30541	0.0768	M	0.90870	3.155	0.20074	N	0.999939	B	0.30741	0.293	B	0.35073	0.195	T	0.37572	-0.9700	10	0.45353	T	0.12	-11.0912	5.966	0.19325	0.0:0.7753:0.0:0.2247	.	166	Q96RI8	TAAR6_HUMAN	D	166;149	ENSP00000275198:A166D	ENSP00000275198:A166D	A	+	2	0	TAAR6	132933650	0.000000	0.05858	0.730000	0.30809	0.680000	0.39746	-0.129000	0.10515	2.580000	0.87095	0.650000	0.86243	GCT		PASS	0.502	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		67	117	67	117	---	---	---	---
HBS1L	10767	broad.mit.edu	37	6	135300358	135300358	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:135300358T>C	ENST00000367837.5	-	14	1852	c.1646A>G	c.(1645-1647)cAt>cGt	p.H549R	HBS1L_ENST00000367824.4_Missense_Mutation_p.H385R|HBS1L_ENST00000367826.2_Missense_Mutation_p.H507R|HBS1L_ENST00000527578.1_Missense_Mutation_p.H385R|HBS1L_ENST00000445176.2_Missense_Mutation_p.H273R|HBS1L_ENST00000415177.2_Missense_Mutation_p.H484R	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	549					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.H549R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AAGACTAACATGATCGCCTGC	0.428																																						uc003qez.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1645-1647)CAT>CGT		Hsp70 subfamily B suppressor 1-like protein							100.0	89.0	92.0					6																	135300358		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135300358T>C	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1646A>G	6.37:g.135300358T>C	ENSP00000356811:p.His549Arg					HBS1L_uc003qey.2_Missense_Mutation_p.H385R|HBS1L_uc011ecy.1_Missense_Mutation_p.H273R|HBS1L_uc011ecz.1_Missense_Mutation_p.H385R|HBS1L_uc011eda.1_Missense_Mutation_p.H507R	p.H549R	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	14	1853	-	Colorectal(23;0.221)		549					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.1646A>G	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365129	0.82463	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.72	5.72	0.89469	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.088107	0.85682	D	0.000000	T	0.44664	0.1304	N	0.01410	-0.885	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.68192	0.927;0.956	T	0.71377	-0.4611	10	0.87932	D	0	-22.5516	15.9912	0.80206	0.0:0.0:0.0:1.0	.	507;549	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	R	549;385;484;507;385;419;273	ENSP00000356811:H549R;ENSP00000436256:H385R;ENSP00000389826:H484R;ENSP00000356800:H507R;ENSP00000356798:H385R;ENSP00000434533:H419R;ENSP00000415305:H273R	ENSP00000356798:H385R	H	-	2	0	HBS1L	135342051	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.884000	0.87274	2.172000	0.68678	0.533000	0.62120	CAT		PASS	0.428	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			7	37	7	37	---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148865626	148865626	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:148865626C>T	ENST00000367467.3	+	18	3495	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1007	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.P1007L(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCATGGGCCCCAGTGGGGCC	0.632																																						uc003qme.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3019-3021)CCC>CTC		SAM and SH3 domain containing 1							36.0	43.0	41.0					6																	148865626		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865626C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3020C>T	6.37:g.148865626C>T	ENSP00000356437:p.Pro1007Leu					SASH1_uc011eeb.1_Missense_Mutation_p.P768L|SASH1_uc003qmf.1_Missense_Mutation_p.P417L	p.P1007L	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3495	+		Ovarian(120;0.0169)	1007			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3020C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	1.216	-0.628304	0.03610	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.35973	1.28	3.54	2.51	0.30379	.	0.451076	0.21799	U	0.068958	T	0.05686	0.0149	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38045	-0.9679	10	0.20519	T	0.43	-5.0897	9.8872	0.41268	0.3397:0.6602:0.0:0.0	.	988;1007	Q6P4R9;O94885	.;SASH1_HUMAN	L	1007;417	ENSP00000356437:P1007L	ENSP00000356437:P1007L	P	+	2	0	SASH1	148907319	0.011000	0.17503	0.002000	0.10522	0.023000	0.10783	-0.189000	0.09629	1.488000	0.48433	0.650000	0.86243	CCC		PASS	0.632	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		16	20	16	20	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152527420	152527420	+	Silent	SNP	C	C	T	rs140577642		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr6:152527420C>T	ENST00000367255.5	-	126	23503	c.22902G>A	c.(22900-22902)tcG>tcA	p.S7634S	SYNE1_ENST00000356820.4_Silent_p.S2158S|SYNE1_ENST00000265368.4_Silent_p.S7634S|SYNE1_ENST00000423061.1_Silent_p.S7563S|SYNE1_ENST00000341594.5_Silent_p.S7246S|SYNE1_ENST00000448038.1_Silent_p.S7563S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7634					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.S7634S(2)|p.S7563S(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)		CACTGTCCGCCGAGAGAAGGA	0.507										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(22900-22902)TCG>TCA		spectrin repeat containing, nuclear envelope 1		T	,	0,4406		0,0,2203	72.0	65.0	68.0		22689,22902	-11.6	0.0	6	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	7563/8750,7634/8798	152527420	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527420C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22902G>A	6.37:g.152527420C>T		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.S2158S|SYNE1_uc003qos.3_Silent_p.S2158S|SYNE1_uc003qot.3_Silent_p.S7563S|SYNE1_uc003qou.3_Silent_p.S7634S|SYNE1_uc003qor.3_Silent_p.S534S	p.S7634S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23504	-		Ovarian(120;0.0955)	7634			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.22902G>A	CCDS5236.2																																																																																				PASS	0.507	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	25	10	25	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8124623	8124623	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:8124623G>C	ENST00000223145.5	+	7	1831	c.1274G>C	c.(1273-1275)cGa>cCa	p.R425P		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	425						cytoplasm (GO:0005737)		p.R425P(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GGATGTGAGCGAGTGAAGGTC	0.458																																						uc003srk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)CGA>CCA		glucocorticoid induced transcript 1							136.0	137.0	136.0					7																	8124623		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8124623G>C	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1274G>C	7.37:g.8124623G>C	ENSP00000223145:p.Arg425Pro						p.R425P	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	7	1833	+		Ovarian(82;0.0608)	425					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1274G>C	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187517	0.57909	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.22	5.22	0.72569	.	0.062472	0.64402	D	0.000004	T	0.77592	0.4153	M	0.67397	2.05	0.49798	D	0.999821	D	0.89917	1.0	D	0.68943	0.961	T	0.75625	-0.3253	9	0.42905	T	0.14	-35.0336	19.3586	0.94425	0.0:0.0:1.0:0.0	.	425	Q86VQ1	GLCI1_HUMAN	P	425	.	ENSP00000223145:R425P	R	+	2	0	GLCCI1	8091148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.426000	0.66476	2.885000	0.99019	0.655000	0.94253	CGA		PASS	0.458	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		8	29	8	29	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21757518	21757518	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:21757518C>G	ENST00000409508.3	+	43	7140	c.7109C>G	c.(7108-7110)tCa>tGa	p.S2370*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.S2377*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2377	AAA 2. {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.S2377*(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						ACCATCACTTCAATTCCTGAG	0.408									Kartagener syndrome																													uc003svc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7129-7131)TCA>TGA		dynein, axonemal, heavy chain 11							165.0	155.0	158.0					7																	21757518		1894	4126	6020	SO:0001587	stop_gained	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.chr7:21757518C>G	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.7109C>G	7.37:g.21757518C>G	ENSP00000475939:p.Ser2370*						p.S2377*	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			44	7161	+			2377					Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.7130C>G		.	.	.	.	.	.	.	.	.	.	C	47	13.650448	0.99755	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.82	3.69	0.42338	.	0.331596	0.31784	N	0.007067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.6317	0.56661	0.0:0.8371:0.0:0.1629	.	.	.	.	X	2377	.	ENSP00000330671:S2377X	S	+	2	0	DNAH11	21724043	0.918000	0.31147	0.027000	0.17364	0.522000	0.34438	3.049000	0.49869	1.459000	0.47892	0.557000	0.71058	TCA		PASS	0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		29	63	29	63	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23775399	23775399	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:23775399G>T	ENST00000355870.3	+	7	845	c.726G>T	c.(724-726)ttG>ttT	p.L242F	STK31_ENST00000354639.3_Missense_Mutation_p.L219F|STK31_ENST00000428484.1_Missense_Mutation_p.L219F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.L242F	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	242						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.L242F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATTCCTTTGTGGGGGCATA	0.453																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(724-726)TTG>TTT		serine/threonine kinase 31 isoform a							83.0	84.0	84.0					7																	23775399		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23775399G>T	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.726G>T	7.37:g.23775399G>T	ENSP00000348132:p.Leu242Phe					STK31_uc003swt.3_Missense_Mutation_p.L219F|STK31_uc011jze.1_Missense_Mutation_p.L242F|STK31_uc010kuq.2_Missense_Mutation_p.L219F	p.L242F	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			7	793	+			242					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.726G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	14.33	2.503011	0.44558	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.16	-1.79	0.07932	.	0.491185	0.17506	N	0.171817	T	0.18635	0.0447	L	0.56769	1.78	0.22185	N	0.999307	P;P	0.39216	0.664;0.664	B;B	0.39299	0.296;0.296	T	0.09684	-1.0663	10	0.34782	T	0.22	0.4476	1.6889	0.02848	0.2396:0.1116:0.4225:0.2263	.	242;242	B4DZ06;Q9BXU1	.;STK31_HUMAN	F	242;242;219;219	ENSP00000348132:L242F;ENSP00000411852:L242F;ENSP00000346660:L219F;ENSP00000406146:L219F	ENSP00000346660:L219F	L	+	3	2	STK31	23741924	0.352000	0.24895	0.585000	0.28666	0.898000	0.52572	0.158000	0.16422	-0.017000	0.14103	0.467000	0.42956	TTG		PASS	0.453	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		12	41	12	41	---	---	---	---
AQP1	358	broad.mit.edu	37	7	30951557	30951557	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:30951557G>T	ENST00000311813.4	+	1	88	c.33G>T	c.(31-33)tgG>tgT	p.W11C	AQP1_ENST00000509504.1_Intron|AQP1_ENST00000434909.2_Intron	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	11					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.W11C(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	AGCTCTTCTGGAGGGCAGTGG	0.612																																						uc003tbv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)TGG>TGT		aquaporin 1	Acetazolamide(DB00819)						49.0	53.0	52.0					7																	30951557		2203	4300	6503	SO:0001583	missense	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30951557G>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.33G>T	7.37:g.30951557G>T	ENSP00000311165:p.Trp11Cys					AQP1_uc011kac.1_Intron	p.W11C	NM_198098	NP_932766	P29972	AQP1_HUMAN			1	90	+		Melanoma(862;0.16)	11			Helical; Name=Helix 1.		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.33G>T	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776703	0.70107	.	.	ENSG00000240583	ENST00000311813;ENST00000413400	D	0.93076	-3.16	4.47	4.47	0.54385	Aquaporin-like (2);	0.184175	0.51477	D	0.000087	D	0.97498	0.9181	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98254	1.0495	10	0.72032	D	0.01	-5.1736	15.0289	0.71691	0.0:0.0:1.0:0.0	.	11	P29972	AQP1_HUMAN	C	11	ENSP00000311165:W11C	ENSP00000311165:W11C	W	+	3	0	AQP1	30918082	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.736000	0.84948	2.486000	0.83907	0.561000	0.74099	TGG		PASS	0.612	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		4	16	4	16	---	---	---	---
MRPS24	64951	broad.mit.edu	37	7	43906368	43906368	+	Missense_Mutation	SNP	T	T	C	rs377480969		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:43906368T>C	ENST00000317534.5	-	4	495	c.434A>G	c.(433-435)tAc>tGc	p.Y145C	URGCP-MRPS24_ENST00000603700.1_3'UTR|MRPS24_ENST00000467084.1_5'Flank	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	145					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Y145C(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTTGTAAAAGTAGGACAGCAA	0.493																																						uc003tit.1																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)TAC>TGC		mitochondrial ribosomal protein S24 precursor		T	CYS/TYR,	1,4405	2.1+/-5.4	0,1,2202	84.0	80.0	82.0		434,	2.8	0.8	7		82	0,8600		0,0,4300	no	missense,utr-3	MRPS24,URGCP-MRPS24	NM_032014.2,NM_001204871.1	194,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,	145/168,	43906368	1,13005	2203	4300	6503	SO:0001583	missense	64951				translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr7:43906368T>C	AB061207	CCDS5473.1	7p14	2012-09-13			ENSG00000062582	ENSG00000062582		"""Mitochondrial ribosomal proteins / small subunits"""	14510	protein-coding gene	gene with protein product		611986				8127713, 11279123	Standard	NM_032014		Approved	MRP-S24, HSPC335	uc003tit.1	Q96EL2	OTTHUMG00000023175	ENST00000317534.5:c.434A>G	7.37:g.43906368T>C	ENSP00000318158:p.Tyr145Cys						p.Y145C	NM_032014	NP_114403	Q96EL2	RT24_HUMAN			4	485	-			145					A4D1U9|P82668|Q96Q23|Q9P047	Missense_Mutation	SNP	ENST00000317534.5	37	c.434A>G	CCDS5473.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776670	0.31411	2.27E-4	0.0	ENSG00000062582	ENST00000317534	T	0.44881	0.91	5.09	2.76	0.32466	.	0.538519	0.21694	N	0.070527	T	0.32346	0.0826	L	0.39898	1.24	0.24585	N	0.99385	P	0.39696	0.683	B	0.40329	0.326	T	0.16394	-1.0404	10	0.56958	D	0.05	.	5.8672	0.18781	0.1452:0.0:0.4159:0.4389	.	145	Q96EL2	RT24_HUMAN	C	145	ENSP00000318158:Y145C	ENSP00000318158:Y145C	Y	-	2	0	MRPS24	43872893	0.997000	0.39634	0.819000	0.32651	0.819000	0.46315	2.064000	0.41432	0.767000	0.33267	0.533000	0.62120	TAC		PASS	0.493	MRPS24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250949.1	NM_032014		15	41	15	41	---	---	---	---
DBNL	28988	broad.mit.edu	37	7	44099661	44099661	+	Silent	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:44099661T>C	ENST00000448521.1	+	12	1160	c.1062T>C	c.(1060-1062)ggT>ggC	p.G354G	DBNL_ENST00000452943.1_Silent_p.G330G|DBNL_ENST00000456905.1_Silent_p.G306G|DBNL_ENST00000440166.1_Silent_p.G251G|DBNL_ENST00000490734.2_Silent_p.G260G|DBNL_ENST00000494774.1_Silent_p.G355G|DBNL_ENST00000468694.1_Silent_p.G363G|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	354					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)	p.G355G(1)		breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGCAGCAAGGTGCTGGCTCTG	0.607																																					NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1060-1062)GGT>GGC		drebrin-like isoform b							53.0	45.0	48.0					7																	44099661		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44099661T>C	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.1062T>C	7.37:g.44099661T>C						DBNL_uc003tjo.3_Silent_p.G355G|DBNL_uc003tjr.3_Silent_p.G227G|DBNL_uc003tjq.3_Silent_p.G363G|DBNL_uc011kbm.1_Silent_p.G330G|DBNL_uc011kbn.1_Silent_p.G251G|DBNL_uc011kbo.1_Silent_p.G255G|DBNL_uc011kbp.1_Silent_p.G306G|DBNL_uc011kbq.1_Silent_p.G279G|DBNL_uc011kbr.1_Silent_p.G303G|DBNL_uc011kbs.1_Silent_p.G259G	p.G354G	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			12	1160	+			354					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.1062T>C	CCDS34623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.81|11.81	1.750935|1.750935	0.31046|0.31046	.|.	.|.	ENSG00000136279|ENSG00000136279	ENST00000432854|ENST00000452661	.|.	.|.	.|.	5.53|5.53	-11.1|-11.1	0.00147|0.00147	.|.	.|.	.|.	.|.	.|.	T|T	0.12774|0.12774	0.0310|0.0310	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.12091|0.12091	-1.0561|-1.0561	4|4	.|.	.|.	.|.	-1.7368|-1.7368	0.3867|0.3867	0.00403|0.00403	0.3433:0.17:0.2518:0.235|0.3433:0.17:0.2518:0.235	.|.	.|.	.|.	.|.	R|A	283|62	.|.	.|.	C|V	+|+	1|2	0|0	DBNL|DBNL	44066186|44066186	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.650000|0.650000	0.38633|0.38633	-2.358000|-2.358000	0.01085|0.01085	-1.944000|-1.944000	0.01038|0.01038	0.529000|0.529000	0.55759|0.55759	TGC|GTG		PASS	0.607	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		4	15	4	15	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48556400	48556400	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:48556400C>A	ENST00000435803.1	+	52	13744	c.13720C>A	c.(13720-13722)Cta>Ata	p.L4574I	ABCA13_ENST00000544596.1_Missense_Mutation_p.L304I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4574					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L4519I(1)|p.L4574I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTATGTCTCACTAAACTTCAT	0.428																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(13720-13722)CTA>ATA		ATP binding cassette, sub-family A (ABC1),							262.0	257.0	258.0					7																	48556400		1943	4146	6089	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556400C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13720C>A	7.37:g.48556400C>A	ENSP00000411096:p.Leu4574Ile					ABCA13_uc010kys.1_Missense_Mutation_p.L1649I|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L304I	p.L4574I	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			52	13745	+			4574			Helical; (Potential).		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.13720C>A	CCDS47584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.751253|1.751253	0.31046|0.31046	.|.	.|.	ENSG00000179869|ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596|ENST00000435451	D;D;D|.	0.87729|.	-2.29;-2.29;-2.29|.	5.35|5.35	-6.01|-6.01	0.02199|0.02199	.|.	0.405739|.	0.17972|.	N|.	0.155801|.	T|T	0.16896|0.16896	0.0406|0.0406	N|N	0.13327|0.13327	0.33|0.33	0.20873|0.20873	N|N	0.999831|0.999831	B;P;P|.	0.52692|.	0.009;0.627;0.955|.	B;B;P|.	0.50825|.	0.025;0.161;0.651|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.02654|.	T|.	1|.	.|.	6.8322|6.8322	0.23917|0.23917	0.0:0.4211:0.2564:0.3225|0.0:0.4211:0.2564:0.3225	.|.	304;2276;4574|.	F5H7B7;Q86UQ4-3;Q86UQ4|.	.;.;ABCAD_HUMAN|.	I|N	4574;347;304|94	ENSP00000411096:L4574I;ENSP00000391042:L347I;ENSP00000442634:L304I|.	ENSP00000391042:L347I|.	L|T	+|+	1|2	2|0	ABCA13|ABCA13	48526946|48526946	0.014000|0.014000	0.17966|0.17966	0.001000|0.001000	0.08648|0.08648	0.911000|0.911000	0.54048|0.54048	-0.204000|-0.204000	0.09425|0.09425	-1.517000|-1.517000	0.01780|0.01780	-0.302000|-0.302000	0.09304|0.09304	CTA|ACT		PASS	0.428	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		30	106	30	106	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73803459	73803459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:73803459G>T	ENST00000395060.1	+	12	2590	c.2590G>T	c.(2590-2592)Gag>Tag	p.E864*	CLIP2_ENST00000361545.5_Nonsense_Mutation_p.E829*|CLIP2_ENST00000223398.6_Nonsense_Mutation_p.E864*			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	864						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.E829*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TAAGTCAGGCGAGAAGAAGGT	0.627																																						uc003uam.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)	3						c.(2590-2592)GAG>TAG		CAP-GLY domain containing linker protein 2							49.0	50.0	50.0					7																	73803459		2203	4300	6503	SO:0001587	stop_gained	7461					microtubule associated complex		g.chr7:73803459G>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2590G>T	7.37:g.73803459G>T	ENSP00000378500:p.Glu864*					CLIP2_uc003uan.2_Nonsense_Mutation_p.E829*	p.E864*	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			13	2917	+			864			Potential.		O14527|O43611	Nonsense_Mutation	SNP	ENST00000395060.1	37	c.2590G>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	39	7.455016	0.98296	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.	.	.	4.4	4.4	0.53042	.	0.299131	0.35903	N	0.002906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.8041	15.9222	0.79586	0.0:0.0:1.0:0.0	.	.	.	.	X	864;864;829;864	.	ENSP00000223398:E864X	E	+	1	0	CLIP2	73441395	1.000000	0.71417	0.951000	0.38953	0.839000	0.47603	8.856000	0.92245	2.158000	0.67659	0.655000	0.94253	GAG		PASS	0.627	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	36	7	36	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81624184	81624184	+	Splice_Site	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:81624184C>T	ENST00000356253.5	-	21	2046	c.1791G>A	c.(1789-1791)gaG>gaA	p.E597E	CACNA2D1_ENST00000356860.3_Splice_Site_p.E578E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	597					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E578E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAATTCTTACCTCATCTTGAG	0.264																																						uc003uhr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1732-1734)GAG>GAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						64.0	64.0	64.0					7																	81624184		2202	4290	6492	SO:0001630	splice_region_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81624184C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1791+1G>A	7.37:g.81624184C>T							p.E578E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			20	1990	-			597			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.1734G>A		.	.	.	.	.	.	.	.	.	.	C	14.20	2.465547	0.43839	.	.	ENSG00000153956	ENST00000443883	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	T	0.75170	0.3813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73582	-0.3937	4	.	.	.	-19.5647	19.2359	0.93858	0.0:1.0:0.0:0.0	.	.	.	.	K	96	.	.	R	-	2	0	CACNA2D1	81462120	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.538000	0.85594	0.655000	0.94253	AGA		PASS	0.264	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			Silent	8	31	8	31	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94035032	94035032	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:94035032C>A	ENST00000297268.6	+	11	1005	c.534C>A	c.(532-534)ggC>ggA	p.G178G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	178					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.G178G(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)	GCTTCAAAGGCATTAGGGTGA	0.363										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(532-534)GGC>GGA		alpha 2 type I collagen precursor	Collagenase(DB00048)						158.0	153.0	155.0					7																	94035032		2203	4299	6502	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94035032C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.534C>A	7.37:g.94035032C>A		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_RNA	p.G178G	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	1005	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		178					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.534C>A	CCDS34682.1																																																																																				PASS	0.363	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		25	92	25	92	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111462506	111462506	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:111462506G>A	ENST00000437633.1	-	27	3098	c.2842C>T	c.(2842-2844)Ctg>Ttg	p.L948L	DOCK4-AS1_ENST00000452714.1_RNA|DOCK4_ENST00000428084.1_Silent_p.L948L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	948					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.L936L(1)|p.L948L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATCTGCAGCAGGAAATCCTTG	0.388																																						uc003vfx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(2842-2844)CTG>TTG		dedicator of cytokinesis 4							68.0	63.0	64.0					7																	111462506		1850	4098	5948	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111462506G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2842C>T	7.37:g.111462506G>A						DOCK4_uc003vfw.2_Silent_p.L389L|DOCK4_uc003vfy.2_Silent_p.L984L	p.L948L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			27	3111	-		Acute lymphoblastic leukemia(1;0.0441)	948					O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.2842C>T	CCDS47688.1																																																																																				PASS	0.388	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		9	31	9	31	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122114483	122114483	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:122114483G>A	ENST00000449022.2	-	13	1969	c.1950C>T	c.(1948-1950)ctC>ctT	p.L650L	CADPS2_ENST00000313070.7_Silent_p.L647L|CADPS2_ENST00000412584.2_Silent_p.L647L|CADPS2_ENST00000334010.7_Silent_p.L651L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	650					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L650L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTGCCTCTGGAGTATTCTAA	0.383																																						uc010lkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1948-1950)CTC>CTT		Ca2+-dependent activator protein for secretion 2							106.0	104.0	105.0					7																	122114483		1884	4137	6021	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122114483G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1950C>T	7.37:g.122114483G>A						CADPS2_uc011knx.1_Silent_p.L21L|CADPS2_uc003vkg.3_Silent_p.L347L|CADPS2_uc010lkq.2_Silent_p.L647L	p.L650L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			12	2113	-			650					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.1950C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	5.407	0.260290	0.10239	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.97	0.287	0.15714	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	-12.0056	0.6333	0.00798	0.4087:0.1767:0.2366:0.178	.	.	.	.	S	296	.	.	P	-	1	0	CADPS2	121901719	0.997000	0.39634	0.998000	0.56505	0.997000	0.91878	0.494000	0.22467	0.116000	0.18110	0.591000	0.81541	CCA		PASS	0.383	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		15	61	15	61	---	---	---	---
KLHDC10	23008	broad.mit.edu	37	7	129764369	129764369	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:129764369A>T	ENST00000335420.5	+	6	992	c.858A>T	c.(856-858)ttA>ttT	p.L286F		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	286						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L286F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CATATTCCTTAAACAAGGTAT	0.368																																						uc003vpj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)TTA>TTT		kelch domain containing 10							51.0	59.0	57.0					7																	129764369		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129764369A>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.858A>T	7.37:g.129764369A>T	ENSP00000334140:p.Leu286Phe					KLHDC10_uc003vpk.1_Missense_Mutation_p.L257F|KLHDC10_uc010lmb.1_Missense_Mutation_p.L183F	p.L286F	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN			6	993	+			286			Kelch 4.		Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.858A>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322331	0.41096	.	.	ENSG00000128607	ENST00000335420;ENST00000468226	T;T	0.16597	2.33;2.33	4.93	2.56	0.30785	Galactose oxidase, beta-propeller (1);	0.073360	0.56097	D	0.000028	T	0.09949	0.0244	N	0.20357	0.565	0.58432	D	0.999996	B;B;B	0.33477	0.413;0.105;0.322	B;B;B	0.33196	0.159;0.069;0.156	T	0.26467	-1.0102	10	0.30078	T	0.28	-4.7636	8.4685	0.32971	0.7634:0.0:0.2366:0.0	.	135;143;286	Q96G43;Q6PID8-2;Q6PID8	.;.;KLD10_HUMAN	F	286;143	ENSP00000334140:L286F;ENSP00000420034:L143F	ENSP00000334140:L286F	L	+	3	2	KLHDC10	129551605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.502000	0.45398	0.322000	0.23283	0.533000	0.62120	TTA		PASS	0.368	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			13	37	13	37	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149482226	149482226	+	RNA	SNP	G	G	C	rs149954255		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:149482226G>C	ENST00000378016.2	+	0	2900							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.A303P(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGACGAGCGCTGTGTGCCT	0.637																																						uc010lpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2899-2901)CGC>CCC		SCO-spondin precursor							97.0	103.0	101.0					7																	149482226		2180	4274	6454			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482226G>C	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.149482226G>C						SSPO_uc010lpl.1_Missense_Mutation_p.A303P	p.R967P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		21	2900	+	Melanoma(164;0.165)|Ovarian(565;0.177)		967					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.2900G>C																																																																																					PASS	0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				11	29	11	29	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150773153	150773153	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:150773153C>T	ENST00000485713.1	+	22	4565	c.3525C>T	c.(3523-3525)gcC>gcT	p.A1175A	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.A1166A|SLC4A2_ENST00000413384.2_Silent_p.A1175A|SLC4A2_ENST00000310317.5_Silent_p.A1093A|SLC4A2_ENST00000461735.1_Silent_p.A1161A|FASTK_ENST00000489884.1_5'Flank	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1175	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.A1175A(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGCCTGGCCCTGCTCTGGG	0.657																																						uc003wit.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3523-3525)GCC>GCT		solute carrier family 4, anion exchanger, member							84.0	80.0	81.0					7																	150773153		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773153C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3525C>T	7.37:g.150773153C>T						SLC4A2_uc011kve.1_Silent_p.A1166A|SLC4A2_uc003wiu.3_Silent_p.A1161A|SLC4A2_uc003wiv.3_Silent_p.A369A|uc011kvf.1_Missense_Mutation_p.G98S	p.A1175A	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	3781	+			1175			Membrane (anion exchange).|Helical; (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.3525C>T	CCDS5917.1																																																																																				PASS	0.657	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		20	39	20	39	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151962221	151962221	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr7:151962221A>T	ENST00000262189.6	-	8	1304	c.1086T>A	c.(1084-1086)tgT>tgA	p.C362*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C362*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	362					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.C362*(2)									AGTGCTGACCACAAGTAGTAC	0.448																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(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.(1084-1086)TGT>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							325.0	293.0	304.0					7																	151962221		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962221A>T	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.1086T>A	7.37:g.151962221A>T	ENSP00000262189:p.Cys362*						p.C362*	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	1305	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	362			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.1086T>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	36	5.687770	0.96784	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.65	4.65	0.58169	.	0.000000	0.45867	U	0.000328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.033	0.36271	0.9165:0.0:0.0835:0.0	.	.	.	.	X	362	.	ENSP00000262189:C362X	C	-	3	2	MLL3	151593154	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	3.830000	0.55768	1.843000	0.53566	0.455000	0.32223	TGT		PASS	0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			18	294	18	294	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19687965	19687965	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:19687965G>T	ENST00000397977.3	+	10	1587	c.1189G>T	c.(1189-1191)Gta>Tta	p.V397L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	397					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.V397L(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)		TCGTCACATTGTAGTCAATAA	0.398																																						uc003wzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1189-1191)GTA>TTA		integrator complex subunit 10							111.0	101.0	104.0					8																	19687965		1867	4116	5983	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19687965G>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.1189G>T	8.37:g.19687965G>T	ENSP00000381064:p.Val397Leu						p.V397L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	10	1320	+			397					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1189G>T	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.851095|2.851095	0.51270|0.51270	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977	.|.	.|.	.|.	5.96|5.96	5.09|5.09	0.68999|0.68999	.|.	.|0.339202	.|0.30723	.|N	.|0.009019	T|T	0.51483|0.51483	0.1677|0.1677	L|L	0.33485|0.33485	1.01|1.01	0.38874|0.38874	D|D	0.95676|0.95676	.|B	.|0.02656	.|0.0	.|B	.|0.08055	.|0.003	T|T	0.49123|0.49123	-0.8972|-0.8972	5|9	.|0.35671	.|T	.|0.21	-19.394|-19.394	14.0692|14.0692	0.64851|0.64851	0.0726:0.0:0.9274:0.0|0.0726:0.0:0.9274:0.0	.|.	.|397	.|Q9NVR2	.|INT10_HUMAN	F|L	172|397	.|.	.|ENSP00000381064:V397L	L|V	+|+	3|1	2|0	INTS10|INTS10	19732245|19732245	0.907000|0.907000	0.30839|0.30839	0.975000|0.975000	0.42487|0.42487	0.955000|0.955000	0.61496|0.61496	0.266000|0.266000	0.18534|0.18534	1.533000|1.533000	0.49186|0.49186	0.655000|0.655000	0.94253|0.94253	TTG|GTA		PASS	0.398	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		20	26	20	26	---	---	---	---
INTS10	55174	broad.mit.edu	37	8	19687967	19687967	+	Silent	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:19687967A>T	ENST00000397977.3	+	10	1589	c.1191A>T	c.(1189-1191)gtA>gtT	p.V397V		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	397					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.V397V(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)		GTCACATTGTAGTCAATAAAG	0.403																																						uc003wzj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1189-1191)GTA>GTT		integrator complex subunit 10							113.0	102.0	105.0					8																	19687967		1869	4116	5985	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19687967A>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.1191A>T	8.37:g.19687967A>T							p.V397V	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	10	1322	+			397					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1191A>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	A	9.669	1.146300	0.21288	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.96	-11.9	0.00025	.	.	.	.	.	.	.	.	.	.	.	0.47094	D	0.999311	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.394	0.7124	0.00926	0.1774:0.2506:0.2634:0.3086	.	.	.	.	L	173	.	.	X	+	2	0	INTS10	19732247	0.013000	0.17824	0.008000	0.14137	0.906000	0.53458	-0.913000	0.04042	-4.208000	0.00065	-0.274000	0.10170	TAG		PASS	0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		19	27	19	27	---	---	---	---
STAR	6770	broad.mit.edu	37	8	38008297	38008297	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:38008297A>C	ENST00000276449.4	-	1	486	c.40T>G	c.(40-42)Tac>Gac	p.Y14D	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	14					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.Y14D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGTGTCTGTAGGAGCTCCCA	0.617																																						uc003xkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)TAC>GAC		steroidogenic acute regulatory protein isoform							116.0	107.0	110.0					8																	38008297		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38008297A>C	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.40T>G	8.37:g.38008297A>C	ENSP00000276449:p.Tyr14Asp					STAR_uc010lwc.1_Missense_Mutation_p.Y14D	p.Y14D	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	1	304	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	14					Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.40T>G	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077738	0.94000	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.88896	-2.44	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	M	0.78456	2.415	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.58970	0.818;0.849	D	0.93934	0.7217	10	0.72032	D	0.01	-17.2815	14.748	0.69501	1.0:0.0:0.0:0.0	.	14;14	E7ETA9;P49675	.;STAR_HUMAN	D	14	ENSP00000276449:Y14D	ENSP00000276449:Y14D	Y	-	1	0	STAR	38127454	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.161000	0.89655	1.960000	0.56953	0.454000	0.30748	TAC		PASS	0.617	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		17	395	17	395	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38105316	38105316	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:38105316A>G	ENST00000397166.2	+	10	1736	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	DDHD2_ENST00000517385.1_Missense_Mutation_p.D23G|DDHD2_ENST00000520272.2_Missense_Mutation_p.D404G|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	404	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D404G(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAATTCTTTGATATCTTTGAG	0.303																																						uc003xlb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1210-1212)GAT>GGT		DDHD domain containing 2 isoform 1							63.0	68.0	66.0					8																	38105316		2203	4292	6495	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38105316A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1211A>G	8.37:g.38105316A>G	ENSP00000380352:p.Asp404Gly					DDHD2_uc003xlc.2_Missense_Mutation_p.D404G|DDHD2_uc011lbl.1_Missense_Mutation_p.D216G|DDHD2_uc003xld.2_Missense_Mutation_p.D23G	p.D404G	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		10	1588	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	404			SAM.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1211A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725115	0.30593	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.55234	0.53;0.53;0.53	5.86	-0.788	0.10939	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.691846	0.15276	N	0.270968	T	0.38268	0.1034	L	0.35288	1.05	0.09310	N	1	B;B	0.21821	0.061;0.003	B;B	0.25140	0.058;0.016	T	0.24012	-1.0172	10	0.25106	T	0.35	-1.1839	11.1294	0.48339	0.0822:0.5423:0.3755:0.0	.	216;404	B4DSR3;O94830	.;DDHD2_HUMAN	G	404;404;216;23	ENSP00000380352:D404G;ENSP00000429932:D404G;ENSP00000429017:D23G	ENSP00000380352:D404G	D	+	2	0	DDHD2	38224473	0.000000	0.05858	0.000000	0.03702	0.658000	0.38924	-0.415000	0.07106	-0.500000	0.06614	-0.407000	0.06327	GAT		PASS	0.303	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		43	272	43	272	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205604	38205604	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:38205604C>T	ENST00000317025.8	-	2	603	c.86G>A	c.(85-87)cGt>cAt	p.R29H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R29H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R29H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R29H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	29					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R29H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATCCTCCTGACGGATGTTGGC	0.468			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(85-87)CGT>CAT		WHSC1L1 protein isoform long							171.0	153.0	159.0					8																	38205604		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205604C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.86G>A	8.37:g.38205604C>T	ENSP00000313983:p.Arg29His					WHSC1L1_uc011lbm.1_Missense_Mutation_p.R29H|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R29H|WHSC1L1_uc003xlj.2_Missense_Mutation_p.R29H	p.R29H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	604	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	29					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.86G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179366	0.94846	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.96396	-4.0;-3.95;-3.95;-0.67;0.42	5.56	5.56	0.83823	.	0.000000	0.49305	U	0.000145	D	0.97617	0.9219	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.988;0.995;0.996;0.988	D	0.98156	1.0444	10	0.87932	D	0	.	19.8909	0.96929	0.0:1.0:0.0:0.0	.	29;29;29;29	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	H	29	ENSP00000393284:R29H;ENSP00000313983:R29H;ENSP00000434730:R29H;ENSP00000313410:R29H;ENSP00000435422:R29H	ENSP00000313410:R29H	R	-	2	0	WHSC1L1	38324761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.745000	0.68672	2.765000	0.95021	0.655000	0.94253	CGT		PASS	0.468	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		56	340	56	340	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39694659	39694659	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:39694659G>A	ENST00000265708.4	-	2	231	c.128C>T	c.(127-129)tCg>tTg	p.S43L	ADAM2_ENST00000379853.2_Missense_Mutation_p.S43L|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.S43L|ADAM2_ENST00000347580.4_Missense_Mutation_p.S43L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	43					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S43L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CATTACCTGCGATTCAATTCC	0.303																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(127-129)TCG>TTG		ADAM metallopeptidase domain 2 proprotein							71.0	71.0	71.0					8																	39694659		2203	4297	6500	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39694659G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.128C>T	8.37:g.39694659G>A	ENSP00000265708:p.Ser43Leu					ADAM2_uc003xnk.2_Missense_Mutation_p.S43L|ADAM2_uc011lck.1_Missense_Mutation_p.S43L|ADAM2_uc003xnl.2_Missense_Mutation_p.S43L	p.S43L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	2	203	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	43					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.128C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	8.901	0.956359	0.18507	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	3.83	1.97	0.26223	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.08802	0.0218	L	0.42686	1.345	0.09310	N	1	P;D;P;P	0.57571	0.513;0.98;0.949;0.709	B;P;B;B	0.45913	0.108;0.497;0.23;0.24	T	0.26503	-1.0101	8	.	.	.	.	5.2213	0.15370	0.1154:0.2105:0.6741:0.0	.	43;43;43;43	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	L	43	ENSP00000343854:S43L;ENSP00000369182:S43L;ENSP00000265708:S43L;ENSP00000429352:S43L	.	S	-	2	0	ADAM2	39813816	0.006000	0.16342	0.001000	0.08648	0.002000	0.02628	0.610000	0.24253	0.564000	0.29238	-0.225000	0.12378	TCG		PASS	0.303	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		11	195	11	195	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48743256	48743256	+	Silent	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:48743256G>C	ENST00000314191.2	-	62	8360	c.8304C>G	c.(8302-8304)gtC>gtG	p.V2768V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V2768V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2769	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V2769V(1)|p.V2768V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTACAGAACGACCTGGGCAT	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - coding silent(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8305-8307)GTC>GTG	NHEJ	protein kinase, DNA-activated, catalytic							96.0	101.0	99.0					8																	48743256		2009	4184	6193	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48743256G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8304C>G	8.37:g.48743256G>C						PRKDC_uc003xqj.2_Silent_p.V2769V|PRKDC_uc011ldh.1_Intron	p.V2769V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			62	8364	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2769			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.8307C>G																																																																																					PASS	0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		13	76	13	76	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56866519	56866519	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:56866519G>C	ENST00000519728.1	+	8	1062	c.766G>C	c.(766-768)Ggg>Cgg	p.G256R	LYN_ENST00000520220.2_Missense_Mutation_p.G235R	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.G256R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GCTTGGCGCTGGGCAGTTTGG	0.527																																						uc003xsk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(766-768)GGG>CGG		Yamaguchi sarcoma viral (v-yes-1) oncogene							107.0	104.0	105.0					8																	56866519		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866519G>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.766G>C	8.37:g.56866519G>C	ENSP00000428924:p.Gly256Arg					LYN_uc003xsl.3_Missense_Mutation_p.G235R	p.G256R	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	1048	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	256			Protein kinase.|ATP (By similarity).		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.766G>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747379	0.89663	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.68479	-0.33;-0.33	5.08	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	H	0.99887	4.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	D	0.95565	0.8633	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	326;256	Q6NUK7;P07948	.;LYN_HUMAN	R	256;235	ENSP00000428924:G256R;ENSP00000428424:G235R	ENSP00000428924:G256R	G	+	1	0	LYN	57029073	1.000000	0.71417	0.943000	0.38184	0.782000	0.44232	9.714000	0.98744	2.534000	0.85438	0.650000	0.86243	GGG		PASS	0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		17	67	17	67	---	---	---	---
CLVS1	157807	broad.mit.edu	37	8	62212665	62212665	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:62212665C>A	ENST00000519846.1	+	3	751	c.279C>A	c.(277-279)ctC>ctA	p.L93L	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000325897.4_Silent_p.L93L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	93					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.L93L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTTTAGACTCCTGGCTCAGT	0.488																																						uc003xuh.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(277-279)CTC>CTA		retinaldehyde binding protein 1-like 1							79.0	73.0	75.0					8																	62212665		2203	4300	6503	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212665C>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.279C>A	8.37:g.62212665C>A						CLVS1_uc003xug.2_Silent_p.L93L|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.L93L	p.L93L	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	603	+			93					B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.279C>A	CCDS6176.1																																																																																				PASS	0.488	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		25	32	25	32	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616888	77616888	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:77616888C>A	ENST00000521891.2	+	2	1013	c.565C>A	c.(565-567)Cca>Aca	p.P189T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P189T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P189T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P189T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	189					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.P189T(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)			GTCGTTCTACCCACAGATCAT	0.483										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(565-567)CCA>ACA		zinc finger homeodomain 4							78.0	75.0	76.0					8																	77616888		1998	4178	6176	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616888C>A		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.565C>A	8.37:g.77616888C>A	ENSP00000430497:p.Pro189Thr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.P189T|ZFHX4_uc003yau.1_Missense_Mutation_p.P189T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P189T	p.P189T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	952	+			189					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.565C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555282	0.45487	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.82255	-1.59;-1.53;-1.57;-1.59	5.42	5.42	0.78866	.	0.000000	0.44285	U	0.000480	D	0.90971	0.7161	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	D	0.91278	0.5049	10	0.87932	D	0	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	189;189;189;189	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	T	189	ENSP00000430497:P189T;ENSP00000399605:P189T;ENSP00000050961:P189T;ENSP00000430848:P189T	ENSP00000050961:P189T	P	+	1	0	ZFHX4	77779443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.821000	0.97095	0.650000	0.86243	CCA		PASS	0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	40	7	40	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89130996	89130996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:89130996G>T	ENST00000286614.6	-	5	1085	c.804C>A	c.(802-804)taC>taA	p.Y268*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	268					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y268*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCATGTACTGGTAAAATGGAG	0.418																																						uc003yeb.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(802-804)TAC>TAA		matrix metalloproteinase 16 isoform 1							167.0	148.0	154.0					8																	89130996		2203	4300	6503	SO:0001587	stop_gained	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89130996G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.804C>A	8.37:g.89130996G>T	ENSP00000286614:p.Tyr268*					MMP16_uc003yec.2_Nonsense_Mutation_p.Y268*	p.Y268*	NM_005941	NP_005932	P51512	MMP16_HUMAN			5	1086	-			268			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Nonsense_Mutation	SNP	ENST00000286614.6	37	c.804C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	38	6.751006	0.97813	.	.	ENSG00000156103	ENST00000286614	.	.	.	5.19	1.31	0.21738	.	0.162586	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7808	0.40647	0.4184:0.0:0.5816:0.0	.	.	.	.	X	268	.	ENSP00000286614:Y268X	Y	-	3	2	MMP16	89200112	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.534000	0.36051	-0.045000	0.13468	-0.259000	0.10710	TAC		PASS	0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		38	49	38	49	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110489571	110489571	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:110489571C>A	ENST00000378402.5	+	53	9139	c.9035C>A	c.(9034-9036)cCt>cAt	p.P3012H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3012					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P3014H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGCTTTCCTGTACATCCG	0.408										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9034-9036)CCT>CAT		fibrocystin L precursor							131.0	119.0	123.0					8																	110489571		1882	4107	5989	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110489571C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9035C>A	8.37:g.110489571C>A	ENSP00000367655:p.Pro3012His	HNSCC(38;0.096)					p.P3012H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		53	9139	+			3012			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9035C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.736938	0.69304	.	.	ENSG00000205038	ENST00000378402	D	0.88818	-2.43	5.69	5.69	0.88448	.	0.139395	0.47455	D	0.000221	D	0.92805	0.7712	L	0.58101	1.795	0.33412	D	0.578703	D	0.69078	0.997	D	0.64144	0.922	D	0.95047	0.8183	10	0.87932	D	0	.	17.3086	0.87202	0.0:1.0:0.0:0.0	.	3012	Q86WI1	PKHL1_HUMAN	H	3012	ENSP00000367655:P3012H	ENSP00000367655:P3012H	P	+	2	0	PKHD1L1	110558747	0.996000	0.38824	1.000000	0.80357	0.677000	0.39632	4.193000	0.58385	2.685000	0.91497	0.585000	0.79938	CCT		PASS	0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	60	20	60	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113304900	113304900	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:113304900C>G	ENST00000297405.5	-	55	8898	c.8654G>C	c.(8653-8655)aGa>aCa	p.R2885T	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2845T|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2815T|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2716T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2885	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2845T(1)|p.R2885T(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						TCCACTTGTTCTTCCATAAAT	0.418										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.(8653-8655)AGA>ACA		CUB and Sushi multiple domains 3 isoform 1							128.0	106.0	113.0					8																	113304900		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113304900C>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.8654G>C	8.37:g.113304900C>G	ENSP00000297405:p.Arg2885Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R2087T|CSMD3_uc003ynt.2_Missense_Mutation_p.R2845T|CSMD3_uc011lhx.1_Missense_Mutation_p.R2716T	p.R2885T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			55	8813	-			2885			Extracellular (Potential).|Sushi 19.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8654G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835974	0.50951	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.72028	0.3410	L	0.39397	1.21	0.47621	D	0.99947	D;D;D	0.67145	0.971;0.996;0.988	D;D;P	0.83275	0.956;0.996;0.885	T	0.63541	-0.6614	10	0.14252	T	0.57	.	19.9664	0.97271	0.0:1.0:0.0:0.0	.	2716;2885;2845	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2845;2885;2155;2716;2815	ENSP00000345799:R2845T;ENSP00000297405:R2885T;ENSP00000341558:R2155T;ENSP00000412263:R2716T;ENSP00000343124:R2815T	ENSP00000297405:R2885T	R	-	2	0	CSMD3	113374076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.653000	0.61462	2.724000	0.93272	0.650000	0.86243	AGA		PASS	0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	58	19	58	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121259859	121259859	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:121259859C>A	ENST00000297848.3	+	21	2757	c.2487C>A	c.(2485-2487)tcC>tcA	p.S829S	COL14A1_ENST00000247781.3_Silent_p.S734S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.S829S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.S829S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGTACCATCCTCGGGGCCCC	0.468																																						uc003yox.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2485-2487)TCC>TCA		collagen, type XIV, alpha 1 precursor							56.0	52.0	54.0					8																	121259859		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259859C>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2487C>A	8.37:g.121259859C>A						COL14A1_uc003yoy.2_Silent_p.S507S	p.S829S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2752	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		829			Fibronectin type-III 7.			Silent	SNP	ENST00000297848.3	37	c.2487C>A	CCDS34938.1																																																																																				PASS	0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		17	29	17	29	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139790639	139790640	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:139790639_139790640CC>GA	ENST00000303045.6	-	15	2160_2161	c.1714_1715GG>TC	c.(1714-1716)GGa>TCa	p.G572S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G572S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	572	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G572A(1)|p.G572*(1)|p.G572S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCAGGTGGTCCTTGGGGCCCC	0.554										HNSCC(7;0.00092)																												uc003yvd.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(11)|pancreas(1)|skin(1)	13						c.(1714-1716)GGA>GCA|c.(1714-1716)GGA>TGA		collagen, type XXII, alpha 1																																				SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139790639C>G|g.chr8:139790640C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1714_1715delinsGA	8.37:g.139790639_139790640delinsGA	ENSP00000303153:p.Gly572Ser	HNSCC(7;0.00092)					p.G572A|p.G572*	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		15	2162|2161	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		572			Pro-rich.|Gly-rich.|Collagen-like 3.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000303045.6	37	c.1715G>C|c.1714G>T	CCDS6376.1																																																																																				PASS	0.554	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		13	21	13	21	---	---	---	---
GPR20	2843	broad.mit.edu	37	8	142367017	142367017	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:142367017C>T	ENST00000377741.3	-	2	1097	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	336					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.G336D(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGATGACGGCCTGAGCCCTT	0.682																																						uc003ywf.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1006-1008)GGC>GAC		G protein-coupled receptor 20							60.0	52.0	55.0					8																	142367017		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367017C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.1007G>A	8.37:g.142367017C>T	ENSP00000366970:p.Gly336Asp						p.G336D	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	1096	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		336			Cytoplasmic (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.1007G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723224	0.30503	.	.	ENSG00000204882	ENST00000377741	T	0.61158	0.13	4.31	-0.098	0.13630	.	.	.	.	.	T	0.37073	0.0990	L	0.27053	0.805	0.18873	N	0.999982	P	0.42039	0.769	B	0.35655	0.207	T	0.18935	-1.0321	9	0.08179	T	0.78	-4.8199	13.2955	0.60294	0.1039:0.2956:0.6005:0.0	.	336	Q99678	GPR20_HUMAN	D	336	ENSP00000366970:G336D	ENSP00000366970:G336D	G	-	2	0	GPR20	142436199	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	1.245000	0.32790	-0.210000	0.10140	0.511000	0.50034	GGC		PASS	0.682	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		7	29	7	29	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143961141	143961141	+	Missense_Mutation	SNP	C	C	T	rs201103987	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:143961141C>T	ENST00000292427.4	-	1	121	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R30Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R30Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	30					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R30Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGGGGACCCGGGCGGCTCT	0.647									Familial Hyperaldosteronism type I				.|||	3	0.000599042	0.0	0.0	5008	,	,		19249	0.002		0.001	False		,,,				2504	0.0					uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(88-90)CGG>CAG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						70.0	70.0	70.0					8																	143961141		2203	4300	6503	SO:0001583	missense	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961141C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.89G>A	8.37:g.143961141C>T	ENSP00000292427:p.Arg30Gln					CYP11B1_uc003yxj.2_Missense_Mutation_p.R30Q|CYP11B1_uc010mey.2_Missense_Mutation_p.R30Q	p.R30Q	NM_000497	NP_000488	P15538	C11B1_HUMAN			1	96	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		30					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.89G>A	CCDS6392.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	2.900	-0.227612	0.06022	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83591	-0.95;-1.74;-0.99	2.96	-5.93	0.02254	.	2.348690	0.02527	U	0.093123	T	0.58424	0.2121	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.54009	-0.8357	10	0.13853	T	0.58	.	0.1773	0.00120	0.2722:0.2676:0.2:0.2603	.	30;30;30	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	30	ENSP00000292427:R30Q;ENSP00000428043:R30Q;ENSP00000366903:R30Q	ENSP00000292427:R30Q	R	-	2	0	CYP11B1	143958143	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.766000	0.04725	-1.668000	0.01471	-0.680000	0.03767	CGG		PASS	0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			37	47	37	47	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145692606	145692606	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:145692606G>T	ENST00000301332.2	+	4	728	c.351G>T	c.(349-351)ctG>ctT	p.L117L	KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	117					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.L117L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCCCTCACTGTTGACAGTGA	0.662											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(349-351)CTG>CTT		kinesin family member C2							56.0	62.0	60.0					8																	145692606		2203	4300	6503	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145692606G>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.351G>T	8.37:g.145692606G>T			OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.L117L	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		4	416	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		117					E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.351G>T	CCDS6427.1																																																																																				PASS	0.662	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		42	43	42	43	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	464218	464218	+	Nonstop_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:464218A>T	ENST00000453981.1	+	48	6411	c.6299A>T	c.(6298-6300)tAa>tTa	p.*2100L	RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|DOCK8_ENST00000432829.2_Nonstop_Mutation_p.*2032L|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|DOCK8_ENST00000469391.1_Nonstop_Mutation_p.*2000L|RP11-165F24.3_ENST00000589287.1_RNA|DOCK8_ENST00000382329.1_Nonstop_Mutation_p.*1567L|RP11-165F24.3_ENST00000588989.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	0					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.*2100L(1)|p.*2032L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGGGCAGCTAAGAAAAGCCA	0.488																																						uc003zgf.2																			2	Nonstop extension(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(6298-6300)TAA>TTA		dedicator of cytokinesis 8							99.0	97.0	98.0					9																	464218		2203	4300	6503	SO:0001578	stop_lost	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:464218A>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6299A>T	9.37:g.464218A>T	ENSP00000408464:p.*2100Leuext*32					DOCK8_uc010mgu.2_Nonstop_Mutation_p.*1402L|DOCK8_uc010mgv.2_Nonstop_Mutation_p.*2000L|DOCK8_uc003zgk.2_Nonstop_Mutation_p.*1558L	p.*2100L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	48	6411	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	2100					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Nonstop_Mutation	SNP	ENST00000453981.1	37	c.6299A>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400261	0.62177	.	.	ENSG00000107099	ENST00000453981;ENST00000432829;ENST00000469391;ENST00000382329	.	.	.	5.95	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8168	0.29265	0.8342:0.0:0.1658:0.0	.	.	.	.	L	2100;2032;2000;1567	.	.	X	+	2	2	DOCK8	454218	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	1.212000	0.32394	0.522000	0.28464	0.533000	0.62120	TAA		PASS	0.488	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		21	39	21	39	---	---	---	---
PLGRKT	55848	broad.mit.edu	37	9	5431953	5431953	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:5431953T>C	ENST00000223864.2	-	3	246	c.25A>G	c.(25-27)Atg>Gtg	p.M9V	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	9					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)		p.M9V(1)									CTTTCATTCATAGATTTTGAA	0.294																																						uc003zjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(25-27)ATG>GTG		hypothetical protein LOC55848							40.0	41.0	41.0					9																	5431953		2202	4297	6499	SO:0001583	missense	55848					integral to membrane		g.chr9:5431953T>C	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.25A>G	9.37:g.5431953T>C	ENSP00000223864:p.Met9Val					C9orf46_uc003zjd.2_Missense_Mutation_p.M9V	p.M9V	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN		GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125)	3	229	-	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	9					B2R6W0|Q9NZ44	Missense_Mutation	SNP	ENST00000223864.2	37	c.25A>G	CCDS6463.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957279	0.53400	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	5.62	0.85841	.	0.102140	0.64402	D	0.000003	T	0.63570	0.2522	M	0.76838	2.35	0.37357	D	0.911059	P	0.46859	0.885	P	0.45538	0.484	T	0.72497	-0.4275	9	0.48119	T	0.1	.	13.3294	0.60477	0.0:0.0:0.0:1.0	.	9	Q9HBL7	CI046_HUMAN	V	9	.	ENSP00000223864:M9V	M	-	1	0	C9orf46	5421953	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.002000	0.49496	2.127000	0.65507	0.528000	0.53228	ATG		PASS	0.294	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		4	7	4	7	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17409420	17409420	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:17409420A>G	ENST00000380647.3	+	16	2829	c.2745A>G	c.(2743-2745)caA>caG	p.Q915Q	CNTLN_ENST00000262360.5_Silent_p.Q915Q|CNTLN_ENST00000425824.1_Silent_p.Q915Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	915					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q915Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCCAAACACAAGGAAAAGAAA	0.333																																						uc003zmz.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2740-2742)CAA>CAG		centlein isoform 1							149.0	151.0	150.0					9																	17409420		1816	4082	5898	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17409420A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2745A>G	9.37:g.17409420A>G						CNTLN_uc003zmy.2_Silent_p.Q915Q|CNTLN_uc010mio.2_Silent_p.Q594Q	p.Q914Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	16	2768	+			915					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.2742A>G	CCDS43789.1																																																																																				PASS	0.333	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		42	87	42	87	---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35377549	35377549	+	Missense_Mutation	SNP	G	G	T	rs142442316		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:35377549G>T	ENST00000378495.3	+	15	1895	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	UNC13B_ENST00000396787.1_Missense_Mutation_p.R570L|UNC13B_ENST00000378496.4_Missense_Mutation_p.R558L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	558					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R558L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATGAAGATCCGAGAGCGAAAT	0.502																																						uc003zwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(1672-1674)CGA>CTA		UNC13 (C. elegans)-like							80.0	76.0	78.0					9																	35377549		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35377549G>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1673G>T	9.37:g.35377549G>T	ENSP00000367756:p.Arg558Leu					UNC13B_uc003zwr.2_Missense_Mutation_p.R558L	p.R558L	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		15	1965	+	all_epithelial(49;0.212)		558					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1673G>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	36	5.661002	0.96734	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.64803	-0.12;-0.12;-0.12	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.87578	0.772;0.998	T	0.82737	-0.0309	10	0.87932	D	0	-10.3226	20.4135	0.99023	0.0:0.0:1.0:0.0	.	558;558	F8W8M9;O14795	.;UN13B_HUMAN	L	570;558;558;145	ENSP00000380006:R570L;ENSP00000367756:R558L;ENSP00000367757:R558L	ENSP00000367756:R558L	R	+	2	0	UNC13B	35367549	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.858000	0.99539	2.835000	0.97688	0.591000	0.81541	CGA		PASS	0.502	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		30	34	30	34	---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	92011737	92011737	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:92011737T>C	ENST00000450295.1	-	6	1105	c.329A>G	c.(328-330)aAc>aGc	p.N110S	SEMA4D_ENST00000343780.4_Missense_Mutation_p.N110S|SEMA4D_ENST00000420987.1_Missense_Mutation_p.N110S|SEMA4D_ENST00000438547.2_Missense_Mutation_p.N110S|SEMA4D_ENST00000422704.2_Missense_Mutation_p.N110S|SEMA4D_ENST00000455551.2_Missense_Mutation_p.N110S|SEMA4D_ENST00000339861.4_Missense_Mutation_p.N110S|SEMA4D_ENST00000356444.2_Missense_Mutation_p.N110S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	110	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.N110S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCGGATGTAGTTGAGGCACTC	0.582																																						uc004aqo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(328-330)AAC>AGC		semaphorin 4D isoform 1							102.0	76.0	85.0					9																	92011737		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92011737T>C	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.329A>G	9.37:g.92011737T>C	ENSP00000416523:p.Asn110Ser					SEMA4D_uc011ltm.1_Missense_Mutation_p.N110S|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.N108S	p.N110S	NM_006378	NP_006369	Q92854	SEM4D_HUMAN			8	901	-			110			Sema.|Extracellular (Potential).		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.329A>G	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331551	0.81690	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704;ENST00000420681	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	4.68	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	H	0.97611	4.04	0.53005	D	0.999964	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	T	0.78244	-0.2279	10	0.87932	D	0	.	13.5207	0.61566	0.0:0.0:0.0:1.0	.	110;110	Q92854-2;Q92854	.;SEM4D_HUMAN	S	110	ENSP00000344923:N110S;ENSP00000391733:N110S;ENSP00000411981:N110S;ENSP00000343418:N110S;ENSP00000416523:N110S;ENSP00000405102:N110S;ENSP00000348822:N110S;ENSP00000388768:N110S;ENSP00000390754:N110S	ENSP00000344923:N110S	N	-	2	0	SEMA4D	91201557	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.426000	0.80270	1.969000	0.57287	0.454000	0.30748	AAC		PASS	0.582	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		4	7	4	7	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97062614	97062614	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:97062614G>T	ENST00000395395.2	+	5	864	c.774G>T	c.(772-774)ggG>ggT	p.G258G	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	258					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.G258G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CACACACCGGGGAGAAGCCAT	0.567																																						uc004aum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(772-774)GGG>GGT		zinc finger protein 169							60.0	64.0	63.0					9																	97062614		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97062614G>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.774G>T	9.37:g.97062614G>T							p.G258G	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	879	+		Acute lymphoblastic leukemia(62;0.136)	258					A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.774G>T	CCDS6709.2																																																																																				PASS	0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		8	23	8	23	---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108366570	108366570	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:108366570C>T	ENST00000223528.2	+	5	568	c.444C>T	c.(442-444)gaC>gaT	p.D148D	FKTN_ENST00000540160.1_Silent_p.D148D|FKTN_ENST00000602661.1_Silent_p.D148D|FKTN_ENST00000357998.5_Silent_p.D148D|FKTN_ENST00000448551.2_Silent_p.D148D	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	148					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.D148D(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						CCCGGCTAGACGGGATAGACT	0.473																																						uc004bcr.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(442-444)GAC>GAT		fukutin							123.0	109.0	114.0					9																	108366570		2203	4300	6503	SO:0001819	synonymous_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108366570C>T		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.444C>T	9.37:g.108366570C>T						FKTN_uc011lvx.1_Silent_p.D148D|FKTN_uc004bcs.2_Silent_p.D148D|FKTN_uc011lvy.1_Silent_p.D148D|FKTN_uc010mtm.2_Silent_p.D16D	p.D148D	NM_001079802	NP_001073270	O75072	FKTN_HUMAN			6	660	+			148			Lumenal (Potential).		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Silent	SNP	ENST00000223528.2	37	c.444C>T	CCDS6766.1																																																																																				PASS	0.473	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		23	28	23	28	---	---	---	---
MED27	9442	broad.mit.edu	37	9	134955031	134955031	+	Silent	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:134955031G>C	ENST00000292035.5	-	1	264	c.201C>G	c.(199-201)ctC>ctG	p.L67L	MED27_ENST00000474263.1_Silent_p.L67L|MED27_ENST00000357028.2_Silent_p.L67L|RP11-32B11.2_ENST00000444872.2_RNA	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	67					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.L67L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GTACCTACTTGAGGTCCCGGT	0.642																																					Colon(41;784 923 6932 42329 52483)	uc004cbe.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(199-201)CTC>CTG		mediator complex subunit 27							48.0	52.0	51.0					9																	134955031		2203	4300	6503	SO:0001819	synonymous_variant	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134955031G>C	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.201C>G	9.37:g.134955031G>C						MED27_uc004cbf.1_Silent_p.L67L|MED27_uc011mco.1_Silent_p.L67L|MED27_uc004cbg.3_Silent_p.L67L	p.L67L	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	1	223	-		Myeloproliferative disorder(178;0.206)	67					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	c.201C>G	CCDS6945.1																																																																																				PASS	0.642	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		11	31	11	31	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412360	139412360	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:139412360A>T	ENST00000277541.6	-	8	1360	c.1285T>A	c.(1285-1287)Tgc>Agc	p.C429S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C429S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTTGATGCACTTGCCCGCA	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1285-1287)TGC>AGC		notch1 preproprotein							41.0	46.0	44.0					9																	139412360		2196	4287	6483	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412360A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1285T>A	9.37:g.139412360A>T	ENSP00000277541:p.Cys429Ser	HNSCC(8;0.001)					p.C429S	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1285	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	429			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1285T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678989	0.88542	.	.	ENSG00000148400	ENST00000277541	D	0.99429	-5.89	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96983	0.9716	10	0.87932	D	0	.	13.105	0.59241	1.0:0.0:0.0:0.0	.	429	P46531	NOTC1_HUMAN	S	429	ENSP00000277541:C429S	ENSP00000277541:C429S	C	-	1	0	NOTCH1	138532181	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.125000	0.94402	1.696000	0.51158	0.379000	0.24179	TGC		PASS	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		23	9	23	9	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.R353H(1)	lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1057-1059)CGT>TGT		notch1 preproprotein							27.0	33.0	31.0					9																	139413085		2197	4292	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413085G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1057C>T	9.37:g.139413085G>A	ENSP00000277541:p.Arg353Cys	HNSCC(8;0.001)					p.R353C	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1057	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	353			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1057C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227690	0.95173	.	.	ENSG00000148400	ENST00000277541	D	0.87491	-2.26	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93786	0.7088	10	0.48119	T	0.1	.	17.1039	0.86657	0.0:0.0:1.0:0.0	.	353	P46531	NOTC1_HUMAN	C	353	ENSP00000277541:R353C	ENSP00000277541:R353C	R	-	1	0	NOTCH1	138532906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.334000	0.72944	2.374000	0.81015	0.561000	0.74099	CGT		PASS	0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	9	6	9	---	---	---	---
EGFL7	51162	broad.mit.edu	37	9	139565062	139565062	+	Intron	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr9:139565062A>T	ENST00000371699.1	+	7	1482				EGFL7_ENST00000308874.7_Intron|EGFL7_ENST00000492002.1_Intron|EGFL7_ENST00000371698.3_Intron|EGFL7_ENST00000406555.3_Intron|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7						angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCCGCTGGCGACGGGACATTA	0.592																																						hsa-mir-126|MI0000471																			0					0															39.0	40.0	40.0					9																	139565062		1564	3579	5143	SO:0001627	intron_variant	406913							g.chr9:139565062A>T	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.571+280A>T	9.37:g.139565062A>T						EGFL7_uc004cid.2_Intron|EGFL7_uc004cif.2_Intron|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Intron|EGFL7_uc004cie.2_Intron|EGFL7_uc004cih.2_Intron										+								B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	RNA	SNP	ENST00000371699.1	37	c.9A>T	CCDS7002.1																																																																																				PASS	0.592	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		14	6	14	6	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	863800	863800	+	Silent	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:863800T>C	ENST00000316157.3	-	14	1600	c.1560A>G	c.(1558-1560)ccA>ccG	p.P520P	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	520					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.P520P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACGGAGGCTTTGGTGGCGTTG	0.562																																						uc001ifs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1558-1560)CCA>CCG		La ribonucleoprotein domain family, member 4B							109.0	114.0	112.0					10																	863800		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:863800T>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1560A>G	10.37:g.863800T>C							p.P520P	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			14	1601	-			520					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.1560A>G	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.549418	0.27652	.	.	ENSG00000107929	ENST00000448368	.	.	.	6.11	3.79	0.43588	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48222	-0.9054	4	.	.	.	-24.0344	6.2196	0.20673	0.0:0.1355:0.149:0.7155	.	.	.	.	E	86	.	.	K	-	1	0	LARP4B	853800	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.055000	0.30467	0.547000	0.28938	0.533000	0.62120	AAA		PASS	0.562	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		20	31	20	31	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8051097	8051097	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:8051097G>A	ENST00000344293.5	+	5	2578	c.2372G>A	c.(2371-2373)aGg>aAg	p.R791K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	791	Pro-rich.				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.R791K(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TCGCAGAACAGGCCGAAGAcc	0.697																																						uc010qbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2371-2373)AGG>AAG		RNA polymerase II transcription factor TAFII140							35.0	38.0	37.0					10																	8051097		1700	3892	5592	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.chr10:8051097G>A	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.2372G>A	10.37:g.8051097G>A	ENSP00000340271:p.Arg791Lys						p.R791K	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			5	2372	+			791			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.2372G>A	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860928	0.51482	.	.	ENSG00000165632	ENST00000344293	T	0.16897	2.31	5.85	5.85	0.93711	.	0.125002	0.39020	N	0.001484	T	0.16981	0.0408	M	0.72118	2.19	0.41784	D	0.989835	P	0.37864	0.61	B	0.31946	0.138	T	0.05550	-1.0878	10	0.05525	T	0.97	-31.3098	14.9514	0.71077	0.0:0.0:0.8572:0.1428	.	791	Q5VWG9	TAF3_HUMAN	K	791	ENSP00000340271:R791K	ENSP00000340271:R791K	R	+	2	0	TAF3	8091103	1.000000	0.71417	0.999000	0.59377	0.312000	0.27988	5.947000	0.70242	2.768000	0.95171	0.655000	0.94253	AGG		PASS	0.697	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		4	7	4	7	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13214719	13214719	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:13214719A>G	ENST00000484800.2	+	5	652	c.549A>G	c.(547-549)ctA>ctG	p.L183L	MCM10_ENST00000378714.3_Silent_p.L182L|MCM10_ENST00000378694.1_Silent_p.L182L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	183					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L183L(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCCCTGCGCTACCAAGAACCA	0.488																																						uc001ima.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(547-549)CTA>CTG		minichromosome maintenance complex component 10							96.0	84.0	88.0					10																	13214719		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13214719A>G	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.549A>G	10.37:g.13214719A>G						MCM10_uc001imb.2_Silent_p.L182L|MCM10_uc001imc.2_Silent_p.L182L	p.L183L	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			5	650	+			183					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.549A>G	CCDS7096.1																																																																																				PASS	0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		12	29	12	29	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21250653	21250653	+	Missense_Mutation	SNP	G	G	C	rs377492976		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:21250653G>C	ENST00000417816.2	-	4	658	c.305C>G	c.(304-306)aCg>aGg	p.T102R	NEBL_ENST00000377159.4_Missense_Mutation_p.T68R	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	765					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.T102R(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						AGGAGTGTCCGTGACGATGCT	0.443																																						uc001iqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(304-306)ACG>AGG		nebulette non-muscle isoform							223.0	206.0	212.0					10																	21250653		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21250653G>C	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	ENST00000417816.2:c.305C>G	10.37:g.21250653G>C	ENSP00000393896:p.Thr102Arg						p.T102R	NM_213569	NP_998734	O76041	NEBL_HUMAN			4	659	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	c.305C>G	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787343	0.49997	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.32023	1.47;1.47	5.42	5.42	0.78866	.	.	.	.	.	T	0.35008	0.0917	L	0.41492	1.28	0.26810	N	0.969024	D	0.55605	0.972	P	0.45449	0.481	T	0.22103	-1.0226	9	0.51188	T	0.08	.	19.5873	0.95495	0.0:0.0:1.0:0.0	.	102	Q70I54	.	R	102;68	ENSP00000393896:T102R;ENSP00000366364:T68R	ENSP00000366364:T68R	T	-	2	0	NEBL	21290659	1.000000	0.71417	0.079000	0.20413	0.952000	0.60782	7.497000	0.81536	2.702000	0.92279	0.650000	0.86243	ACG		PASS	0.443	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393		35	78	35	78	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33543123	33543123	+	Splice_Site	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:33543123C>A	ENST00000265371.4	-	7	1340		c.e7-1		NRP1_ENST00000374875.1_Splice_Site|NRP1_ENST00000374823.5_Splice_Site|NRP1_ENST00000374867.2_Splice_Site|NRP1_ENST00000374816.3_Splice_Site|NRP1_ENST00000374821.5_Splice_Site|NRP1_ENST00000374822.4_Splice_Site|NRP1_ENST00000432372.2_Splice_Site|NRP1_ENST00000395995.1_Splice_Site			O14786	NRP1_HUMAN	neuropilin 1						angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CATTTGAAATCTGAAGGGAAA	0.398																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Unknown(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.e6-1		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						67.0	65.0	66.0					10																	33543123		2203	4300	6503	SO:0001630	splice_region_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33543123C>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.815-1G>T	10.37:g.33543123C>A						NRP1_uc001iwv.3_Splice_Site_p.D272_splice|NRP1_uc009xlz.2_Splice_Site_p.D272_splice|NRP1_uc001iww.3_Splice_Site_p.D91_splice|NRP1_uc001iwy.3_Splice_Site_p.D272_splice|NRP1_uc001iwz.2_Splice_Site_p.D272_splice|NRP1_uc001ixa.2_Splice_Site_p.D272_splice|NRP1_uc001ixb.1_Splice_Site_p.D272_splice|NRP1_uc001ixc.1_Splice_Site_p.D272_splice	p.D272_splice	NM_003873	NP_003864	O14786	NRP1_HUMAN			6	1338	-								B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Splice_Site	SNP	ENST00000265371.4	37	c.815_splice	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286025	0.80803	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000455749;ENST00000374818	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2596	0.93962	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRP1	33583129	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.747000	0.85070	2.628000	0.89032	0.650000	0.86243	.		PASS	0.398	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2		Intron	13	24	13	24	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37505199	37505199	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:37505199G>C	ENST00000602533.1	+	32	2891	c.2792G>C	c.(2791-2793)gGa>gCa	p.G931A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.G1050A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G931A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	987					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G931A(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						CAACGTACAGGAAAAATGGAA	0.333																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(2791-2793)GGA>GCA		ankyrin repeat domain 30A							78.0	73.0	75.0					10																	37505199		1815	4067	5882	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37505199G>C	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.2792G>C	10.37:g.37505199G>C	ENSP00000473551:p.Gly931Ala						p.G931A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			32	2891	+			987					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2792G>C		.	.	.	.	.	.	.	.	.	.	g	0	-2.624088	0.00117	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05025	3.51;3.51	2.63	-4.17	0.03857	.	.	.	.	.	T	0.01835	0.0058	N	0.02854	-0.475	0.09310	N	1	B	0.22080	0.064	B	0.17722	0.019	T	0.43556	-0.9384	9	0.02654	T	1	.	6.6143	0.22769	0.2083:0.2613:0.5304:0.0	.	987	Q9BXX3	AN30A_HUMAN	A	931;1050	ENSP00000354432:G931A;ENSP00000363792:G1050A	ENSP00000354432:G931A	G	+	2	0	ANKRD30A	37545205	0.009000	0.17119	0.000000	0.03702	0.001000	0.01503	-0.197000	0.09518	-1.058000	0.03197	-2.273000	0.00274	GGA		PASS	0.333	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		13	54	13	54	---	---	---	---
ALOX5	240	broad.mit.edu	37	10	45878095	45878095	+	Silent	SNP	C	C	A	rs140946470		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:45878095C>A	ENST00000374391.2	+	2	368	c.315C>A	c.(313-315)acC>acA	p.T105T	ALOX5_ENST00000542434.1_Silent_p.T105T	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	105	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.T105T(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCTGGATCACCGGCGATGTCG	0.592																																						uc001jce.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(313-315)ACC>ACA		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						64.0	52.0	56.0					10																	45878095		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45878095C>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.315C>A	10.37:g.45878095C>A						ALOX5_uc009xmt.2_Silent_p.T105T|ALOX5_uc010qfg.1_Silent_p.T105T	p.T105T	NM_000698	NP_000689	P09917	LOX5_HUMAN			2	414	+		Lung SC(717;0.0257)	105			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.315C>A	CCDS7212.1																																																																																				PASS	0.592	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			8	17	8	17	---	---	---	---
LRRC18	474354	broad.mit.edu	37	10	50121473	50121473	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:50121473G>C	ENST00000374160.3	-	1	804	c.728C>G	c.(727-729)cCc>cGc	p.P243R	LRRC18_ENST00000298124.3_Missense_Mutation_p.P243R|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	243						cytoplasm (GO:0005737)		p.P243R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATGGAATTGGGTGAGATCAG	0.537																																						uc001jhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(727-729)CCC>CGC		leucine rich repeat containing 18							199.0	200.0	200.0					10																	50121473		2203	4300	6503	SO:0001583	missense	474354					cytoplasm		g.chr10:50121473G>C	AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.728C>G	10.37:g.50121473G>C	ENSP00000363275:p.Pro243Arg					WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.P243R	p.P243R	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN			1	808	-			243					Q6UY02	Missense_Mutation	SNP	ENST00000374160.3	37	c.728C>G	CCDS31197.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005156	0.54254	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.62788	0.06;-0.0	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79410	-0.1815	9	.	.	.	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	243	Q8N456	LRC18_HUMAN	R	243	ENSP00000363275:P243R;ENSP00000298124:P243R	.	P	-	2	0	LRRC18	49791479	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	9.086000	0.94088	2.832000	0.97577	0.655000	0.94253	CCC		PASS	0.537	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047964.1	NM_001006939		45	108	45	108	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50820151	50820151	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:50820151G>C	ENST00000374115.3	+	1	1805	c.1365G>C	c.(1363-1365)atG>atC	p.M455I	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	455					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.M455I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCTTGGCATGGGACTGGCCA	0.637																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1363-1365)ATG>ATC		vesicular acetylcholine transporter							75.0	51.0	59.0					10																	50820151		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820151G>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1365G>C	10.37:g.50820151G>C	ENSP00000363229:p.Met455Ile					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.M455I	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1805	+			455			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1365G>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717174	0.15372	.	.	ENSG00000187714	ENST00000374115	T	0.80393	-1.37	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	U	0.000000	T	0.65698	0.2716	N	0.16166	0.38	0.80722	D	1	B	0.18863	0.031	B	0.19666	0.026	T	0.62784	-0.6781	10	0.02654	T	1	-2.223	18.5339	0.91002	0.0:0.0:1.0:0.0	.	455	Q16572	VACHT_HUMAN	I	455	ENSP00000363229:M455I	ENSP00000363229:M455I	M	+	3	0	SLC18A3	50490157	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.380000	0.81148	0.561000	0.74099	ATG		PASS	0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		6	23	6	23	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52573785	52573785	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:52573785C>A	ENST00000373993.1	-	8	1223	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	A1CF_ENST00000395495.1_Silent_p.V338V|A1CF_ENST00000373995.3_Silent_p.V393V|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Silent_p.V386V|A1CF_ENST00000374001.2_Silent_p.V385V|A1CF_ENST00000373997.3_Silent_p.V385V|A1CF_ENST00000282641.2_Silent_p.V393V|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	393	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.V393V(1)|p.V385V(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGTCCTCTCACTCCCGCAG	0.463																																						uc001jjj.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1177-1179)GTG>GTT		apobec-1 complementation factor isoform 2							70.0	73.0	72.0					10																	52573785		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573785C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1179G>T	10.37:g.52573785C>A						A1CF_uc010qhn.1_Silent_p.V393V|A1CF_uc001jji.2_Silent_p.V385V|A1CF_uc001jjh.2_Silent_p.V393V|A1CF_uc010qho.1_Silent_p.V401V|A1CF_uc009xov.2_Silent_p.V385V	p.V393V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			10	1367	-			393			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.1179G>T	CCDS7242.1																																																																																				PASS	0.463	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		8	30	8	30	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680202	67680202	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:67680202C>A	ENST00000433211.2	-	18	2748	c.2574G>T	c.(2572-2574)ttG>ttT	p.L858F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.L858F|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.L858F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTTTTAATCAAGGGTTTTT	0.473																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2572-2574)TTG>TTT		catenin, alpha 3							99.0	102.0	101.0					10																	67680202		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680202C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2574G>T	10.37:g.67680202C>A	ENSP00000389714:p.Leu858Phe					CTNNA3_uc001jmw.2_Missense_Mutation_p.L858F	p.L858F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			18	2697	-			858						Missense_Mutation	SNP	ENST00000433211.2	37	c.2574G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764711	0.69878	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.64803	0.34;0.34;-0.12	5.92	1.95	0.26073	.	0.188078	0.22408	N	0.060451	T	0.73040	0.3536	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.71328	-0.4626	10	0.87932	D	0	-4.5125	7.1374	0.25535	0.0:0.6624:0.1233:0.2143	.	858	Q9UI47	CTNA3_HUMAN	F	858;858;197	ENSP00000389714:L858F;ENSP00000362849:L858F;ENSP00000362840:L197F	ENSP00000362840:L197F	L	-	3	2	CTNNA3	67350208	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.417000	0.21214	0.398000	0.25338	-0.122000	0.15005	TTG		PASS	0.473	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		14	53	14	53	---	---	---	---
RGR	5995	broad.mit.edu	37	10	86007505	86007505	+	Splice_Site	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:86007505T>C	ENST00000359452.4	+	2	274		c.e2+2		RGR_ENST00000372092.3_Splice_Site|RGR_ENST00000358110.5_Splice_Site	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCTTCTCCGGTACCAGCCCCC	0.637																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+2		retinal G-protein coupled receptor isoform 2							55.0	52.0	53.0					10																	86007505		2203	4300	6503	SO:0001630	splice_region_variant	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86007505T>C	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.236+2T>C	10.37:g.86007505T>C						RGR_uc001kdb.1_Splice_Site_p.P62_splice|RGR_uc001kdd.1_Splice_Site_p.R79_splice|RGR_uc001kde.1_Splice_Site_p.R79_splice	p.R79_splice	NM_001012720	NP_001012738	P47804	RGR_HUMAN			2	274	+								A6NKK7|Q96FC5	Splice_Site	SNP	ENST00000359452.4	37	c.236_splice	CCDS7374.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386241	0.61956	.	.	ENSG00000148604	ENST00000359452;ENST00000358110;ENST00000372092	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1994	0.59758	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGR	85997485	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.437000	0.66544	1.901000	0.55032	0.482000	0.46254	.		PASS	0.637	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921	Intron	9	31	9	31	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97918053	97918053	+	RNA	SNP	A	A	G	rs369974270		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:97918053A>G	ENST00000534948.1	+	0	2831							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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.A658A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAGGAACAGCAGTGTATGAAA	0.373																																						uc001klp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1972-1974)GCA>GCG		zinc finger protein 518		A		0,3658		0,0,1829	70.0	68.0	69.0		1974	3.3	0.2	10		69	1,8173		0,1,4086	no	coding-synonymous	ZNF518A	NM_014803.3		0,1,5915	GG,GA,AA		0.0122,0.0,0.0085		658/1484	97918053	1,11831	1829	4087	5916			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97918053A>G	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918053A>G						ZNF518A_uc001klo.1_Silent_p.A128A|ZNF518A_uc001klq.2_Silent_p.A658A|ZNF518A_uc001klr.2_Silent_p.A658A	p.A658A	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	2831	+		Colorectal(252;0.0815)	658					A0PJI5|O15044|Q32MP4	Silent	SNP	ENST00000534948.1	37	c.1974A>G																																																																																					PASS	0.373	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		22	45	22	45	---	---	---	---
LOXL4	84171	broad.mit.edu	37	10	100010855	100010855	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:100010855C>T	ENST00000260702.3	-	14	2317	c.2167G>A	c.(2167-2169)Ggg>Agg	p.G723R	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	723	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.G723R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ACCCGGTGCCCATCATACTTG	0.522																																						uc001kpa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(2167-2169)GGG>AGG		lysyl oxidase-like 4 precursor							84.0	72.0	76.0					10																	100010855		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100010855C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.2167G>A	10.37:g.100010855C>T	ENSP00000260702:p.Gly723Arg						p.G723R	NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	14	2318	-		Colorectal(252;0.234)	723			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.2167G>A	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167611	0.94768	.	.	ENSG00000138131	ENST00000260702	T	0.52295	0.67	5.45	5.45	0.79879	.	0.056515	0.64402	D	0.000001	T	0.74839	0.3769	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80030	-0.1553	10	0.87932	D	0	.	18.1148	0.89549	0.0:1.0:0.0:0.0	.	723	Q96JB6	LOXL4_HUMAN	R	723	ENSP00000260702:G723R	ENSP00000260702:G723R	G	-	1	0	LOXL4	100000845	1.000000	0.71417	0.970000	0.41538	0.970000	0.65996	7.761000	0.85260	2.552000	0.86080	0.555000	0.69702	GGG		PASS	0.522	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		6	14	6	14	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102783315	102783315	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:102783315G>T	ENST00000370215.3	-	4	645	c.420C>A	c.(418-420)agC>agA	p.S140R	PDZD7_ENST00000470414.1_Missense_Mutation_p.S140R	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	140	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S140R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGCTCTCCAGGCTCAGCCCAT	0.657																																						uc001kso.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(418-420)AGC>AGA		PDZ domain containing 7							80.0	66.0	71.0					10																	102783315		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783315G>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.420C>A	10.37:g.102783315G>T	ENSP00000359234:p.Ser140Arg					PDZD7_uc001ksn.2_Missense_Mutation_p.S140R	p.S140R	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	4	635	-			140			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.420C>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297331	0.40694	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.29142	1.58	5.05	3.16	0.36331	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.62016	1.91	0.46927	D	0.999251	D;P	0.76494	0.999;0.956	D;P	0.81914	0.995;0.656	T	0.39683	-0.9602	10	0.62326	D	0.03	.	9.0066	0.36115	0.2988:0.0:0.7012:0.0	.	140;140	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	R	140	ENSP00000359234:S140R	ENSP00000359234:S140R	S	-	3	2	PDZD7	102773305	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	2.123000	0.41996	0.503000	0.28060	0.561000	0.74099	AGC		PASS	0.657	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		8	21	8	21	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108337279	108337279	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:108337279T>C	ENST00000263054.6	-	26	3413	c.3406A>G	c.(3406-3408)Act>Gct	p.T1136A	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1136					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T1136A(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAGGTTGAGTAGAAGGGGAG	0.493																																						uc001kym.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3406-3408)ACT>GCT		SORCS receptor 1 isoform a							89.0	89.0	89.0					10																	108337279		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108337279T>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3406A>G	10.37:g.108337279T>C	ENSP00000263054:p.Thr1136Ala					SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR	p.T1136A	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	26	3414	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1136			Cytoplasmic (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3406A>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	8.421	0.846418	0.16963	.	.	ENSG00000108018	ENST00000263054	T	0.13307	2.6	5.52	-0.299	0.12808	.	.	.	.	.	T	0.03783	0.0107	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	8	.	.	.	.	5.6109	0.17404	0.1631:0.5156:0.0:0.3212	.	1136	Q8WY21	SORC1_HUMAN	A	1136	ENSP00000263054:T1136A	.	T	-	1	0	SORCS1	108327269	0.058000	0.20735	1.000000	0.80357	0.997000	0.91878	-1.573000	0.02134	0.078000	0.16900	0.454000	0.30748	ACT		PASS	0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		23	42	23	42	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118354329	118354329	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:118354329G>A	ENST00000528052.1	+	5	489	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.V140M|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.V140M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	140					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.V140M(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGCCAACAACGTGCGAGTGGT	0.602																																						uc001lco.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(418-420)GTG>ATG		pancreatic lipase-related protein 1 precursor							94.0	78.0	84.0					10																	118354329		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354329G>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.418G>A	10.37:g.118354329G>A	ENSP00000433933:p.Val140Met					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.V140M|PNLIPRP1_uc009xys.1_RNA	p.V140M	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	436	+			140					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.418G>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377280	0.61735	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000534537	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.31	3.42	0.39159	Lipase, N-terminal (1);	0.471283	0.21037	N	0.081239	D	0.95893	0.8663	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.95133	0.8257	10	0.72032	D	0.01	-3.0509	7.21	0.25929	0.3247:0.0:0.6753:0.0	.	140	P54315	LIPR1_HUMAN	M	140	ENSP00000436123:V140M;ENSP00000351695:V140M;ENSP00000433933:V140M;ENSP00000434159:V140M	ENSP00000351695:V140M	V	+	1	0	PNLIPRP1	118344319	0.844000	0.29557	0.021000	0.16686	0.843000	0.47879	1.264000	0.33015	1.371000	0.46172	0.655000	0.94253	GTG		PASS	0.602	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		9	17	9	17	---	---	---	---
RAB11FIP2	22841	broad.mit.edu	37	10	119805520	119805520	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:119805520G>C	ENST00000355624.3	-	1	594	c.155C>G	c.(154-156)gCt>gGt	p.A52G	RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000454781.1_RNA|RP11-354M20.3_ENST00000417968.4_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000426021.1_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.A52G	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	52	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for its cellular translocation to the plasma membrane.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.A52G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGTTTTCTCAGCTACAGAGGT	0.448																																						uc001ldj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GCT>GGT		RAB11 family interacting protein 2							201.0	177.0	185.0					10																	119805520		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119805520G>C	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.155C>G	10.37:g.119805520G>C	ENSP00000347839:p.Ala52Gly					RAB11FIP2_uc009xyz.1_Missense_Mutation_p.A52G|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	p.A52G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	1	595	-		Colorectal(252;0.235)	52			C2.|Necessary for its cellular translocation to the plasma membrane.		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.155C>G	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608517	0.87258	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.70045	-0.45;-0.45	4.99	4.99	0.66335	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.107907	0.64402	D	0.000007	T	0.75953	0.3920	M	0.87456	2.885	0.52501	D	0.999958	B;P	0.42456	0.443;0.78	B;P	0.49252	0.42;0.604	T	0.75662	-0.3240	10	0.30078	T	0.28	-11.7819	12.1059	0.53811	0.079:0.0:0.921:0.0	.	52;52	Q3I768;Q7L804	.;RFIP2_HUMAN	G	52	ENSP00000347839:A52G;ENSP00000358200:A52G	ENSP00000347839:A52G	A	-	2	0	RAB11FIP2	119795510	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.566000	0.73978	2.493000	0.84123	0.549000	0.68633	GCT		PASS	0.448	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		16	35	16	35	---	---	---	---
C10orf120	399814	broad.mit.edu	37	10	124457592	124457592	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:124457592T>A	ENST00000329446.4	-	3	696	c.665A>T	c.(664-666)gAt>gTt	p.D222V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	222								p.D222V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGTTGGCATCATCACAATT	0.398																																						uc001lgn.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(664-666)GAT>GTT		hypothetical protein LOC399814							110.0	92.0	98.0					10																	124457592		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457592T>A		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.665A>T	10.37:g.124457592T>A	ENSP00000331012:p.Asp222Val						p.D222V	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	697	-		all_neural(114;0.169)|Glioma(114;0.222)	222					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.665A>T	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575029	0.28092	.	.	ENSG00000183559	ENST00000329446	T	0.30981	1.51	4.71	-0.57	0.11753	.	1.573540	0.03864	N	0.274436	T	0.31295	0.0792	L	0.57536	1.79	0.09310	N	1	B	0.24426	0.103	B	0.21917	0.037	T	0.35599	-0.9782	10	0.59425	D	0.04	0.0384	7.1185	0.25431	0.0:0.0931:0.5313:0.3756	.	222	Q5SQS8	CJ120_HUMAN	V	222	ENSP00000331012:D222V	ENSP00000331012:D222V	D	-	2	0	C10orf120	124447582	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.251000	0.02882	-0.178000	0.10672	0.491000	0.48974	GAT		PASS	0.398	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		12	23	12	23	---	---	---	---
DOCK1	1793	broad.mit.edu	37	10	129172398	129172398	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr10:129172398A>T	ENST00000280333.6	+	35	3641	c.3532A>T	c.(3532-3534)Atg>Ttg	p.M1178L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1178					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.M1178L(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGTGCGCTTAATGGAAAGGCT	0.423																																						uc001ljt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(3532-3534)ATG>TTG		dedicator of cytokinesis 1							80.0	77.0	78.0					10																	129172398		1907	4138	6045	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129172398A>T	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3532A>T	10.37:g.129172398A>T	ENSP00000280333:p.Met1178Leu					DOCK1_uc010qun.1_Missense_Mutation_p.M1199L|DOCK1_uc009yaq.2_Missense_Mutation_p.M173L	p.M1178L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	35	3596	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1178			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3532A>T		.	.	.	.	.	.	.	.	.	.	A	0.708	-0.788231	0.02884	.	.	ENSG00000150760	ENST00000280333	T	0.61040	0.14	5.31	4.15	0.48705	.	0.114331	0.64402	D	0.000011	T	0.24774	0.0601	N	0.01289	-0.905	0.51767	D	0.99993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.001	T	0.16837	-1.0389	10	0.06625	T	0.88	.	12.0893	0.53717	0.8561:0.1439:0.0:0.0	.	1178;1244;1178	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	L	1178	ENSP00000280333:M1178L	ENSP00000280333:M1178L	M	+	1	0	DOCK1	129062388	1.000000	0.71417	0.997000	0.53966	0.400000	0.30750	3.696000	0.54757	0.997000	0.38969	0.528000	0.53228	ATG		PASS	0.423	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		10	17	10	17	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967961	4967961	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:4967961T>C	ENST00000380373.2	-	1	395	c.370A>G	c.(370-372)Aga>Gga	p.R124G	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R124G(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTAGGAATCTATCAAATGAC	0.448																																						uc010qys.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(370-372)AGA>GGA		olfactory receptor, family 51, subfamily A,							256.0	253.0	254.0					11																	4967961		2189	4281	6470	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967961T>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.370A>G	11.37:g.4967961T>C	ENSP00000369731:p.Arg124Gly						p.R124G	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	370	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	124			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380373.2	37	c.370A>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282046	0.23392	.	.	ENSG00000205497	ENST00000380373	D	0.97161	-4.27	3.58	-0.575	0.11734	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.98391	0.9465	H	0.96833	3.89	0.09310	N	1	P	0.50528	0.936	P	0.61592	0.891	D	0.93924	0.7208	9	0.87932	D	0	.	4.7586	0.13097	0.1482:0.0:0.3816:0.4702	.	124	Q8NGJ6	O51A4_HUMAN	G	124	ENSP00000369731:R124G	ENSP00000369731:R124G	R	-	1	2	OR51A4	4924537	0.001000	0.12720	0.000000	0.03702	0.351000	0.29236	0.706000	0.25690	-0.145000	0.11294	-0.488000	0.04728	AGA		PASS	0.448	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		49	77	49	77	---	---	---	---
TRIM22	10346	broad.mit.edu	37	11	5719761	5719761	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:5719761G>C	ENST00000379965.3	+	4	1013	c.736G>C	c.(736-738)Gta>Cta	p.V246L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	246					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V246L(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GGGATCGTCAGTAGAGATGCT	0.547																																					GBM(104;491 2336 5222)	uc001mbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GTA>CTA		tripartite motif-containing 22							52.0	57.0	55.0					11																	5719761		2024	4198	6222	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5719761G>C	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.736G>C	11.37:g.5719761G>C	ENSP00000369299:p.Val246Leu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.V214L|TRIM22_uc009yes.2_Missense_Mutation_p.V242L|TRIM22_uc010qzm.1_Missense_Mutation_p.V74L|TRIM22_uc009yeu.2_Missense_Mutation_p.V57L	p.V246L	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	4	1013	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	246			Potential.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.736G>C	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	G	9.617	1.132917	0.21041	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293	T;T	0.07688	3.17;3.17	3.53	-4.25	0.03766	.	.	.	.	.	T	0.04588	0.0125	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.24368	0.102;0.004;0.002;0.001	B;B;B;B	0.18871	0.023;0.006;0.011;0.002	T	0.43376	-0.9395	9	0.18710	T	0.47	.	11.6687	0.51389	0.3466:0.0:0.6534:0.0	.	168;214;242;246	F8WAP8;C9JWC5;Q8IYM9-2;Q8IYM9	.;.;.;TRI22_HUMAN	L	246;57;214;168	ENSP00000369299:V246L;ENSP00000393250:V214L	ENSP00000369299:V246L	V	+	1	0	TRIM22	5676337	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.498000	0.00968	-1.101000	0.03027	-1.641000	0.00772	GTA		PASS	0.547	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		6	12	6	12	---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007601	6007601	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:6007601C>A	ENST00000332249.4	-	1	614	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172F(1)|p.C187F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGCTTGGCAGAAGATAAG	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(559-561)TGC>TTC		olfactory receptor, family 52, subfamily L,							100.0	94.0	96.0					11																	6007601		1994	4153	6147	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007601C>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.560G>T	11.37:g.6007601C>A	ENSP00000330338:p.Cys187Phe						p.C187F	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	615	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	187			Extracellular (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.560G>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084047	0.36758	.	.	ENSG00000183313	ENST00000332249	T	0.00249	8.44	3.85	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00695	0.0023	M	0.88775	2.98	0.48341	D	0.999639	D	0.76494	0.999	D	0.87578	0.998	T	0.70281	-0.4915	10	0.72032	D	0.01	.	14.6888	0.69068	0.0:1.0:0.0:0.0	.	187	Q8NGH7	O52L1_HUMAN	F	187	ENSP00000330338:C187F	ENSP00000330338:C187F	C	-	2	0	OR52L1	5964177	0.997000	0.39634	0.213000	0.23690	0.195000	0.23768	3.153000	0.50685	1.854000	0.53819	0.313000	0.20887	TGC		PASS	0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		31	48	31	48	---	---	---	---
C11orf16	56673	broad.mit.edu	37	11	8947056	8947056	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:8947056C>G	ENST00000326053.5	-	5	1264	c.1158G>C	c.(1156-1158)tgG>tgC	p.W386C	C11orf16_ENST00000525780.1_Missense_Mutation_p.W386C|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	386								p.W386C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TCCAATACCTCCACTCAGGCT	0.592																																						uc001mhb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1156-1158)TGG>TGC		hypothetical protein LOC56673							62.0	59.0	60.0					11																	8947056		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8947056C>G	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1158G>C	11.37:g.8947056C>G	ENSP00000318999:p.Trp386Cys					C11orf16_uc001mhc.3_Missense_Mutation_p.W386C	p.W386C	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	5	1282	-			386					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.1158G>C	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388742	0.42308	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.64085	-0.06;-0.08	5.67	5.67	0.87782	.	0.197632	0.37178	N	0.002209	T	0.77909	0.4201	M	0.61703	1.905	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.78698	-0.2103	10	0.87932	D	0	7.0E-4	18.3115	0.90201	0.0:1.0:0.0:0.0	.	386;386	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	C	386	ENSP00000436818:W386C;ENSP00000318999:W386C	ENSP00000318999:W386C	W	-	3	0	C11orf16	8903632	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	3.719000	0.54926	2.837000	0.97791	0.655000	0.94253	TGG		PASS	0.592	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		13	40	13	40	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17464298	17464298	+	Silent	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:17464298G>C	ENST00000389817.3	-	10	1667	c.1599C>G	c.(1597-1599)ctC>ctG	p.L533L	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000302539.4_Silent_p.L533L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	533	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.L533L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAAAGGCCCTGAGGCTGGTCA	0.607																																						uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1597-1599)CTC>CTG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						101.0	88.0	92.0					11																	17464298		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464298G>C	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1599C>G	11.37:g.17464298G>C						ABCC8_uc010rcy.1_Silent_p.L532L	p.L533L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	10	1725	-			533			Cytoplasmic (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.1599C>G	CCDS31437.1																																																																																				PASS	0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		10	29	10	29	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22249067	22249067	+	Silent	SNP	C	C	A	rs149040903		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:22249067C>A	ENST00000324559.8	+	7	900	c.583C>A	c.(583-585)Cgg>Agg	p.R195R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	195					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R195R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCAGACATCGGCAGGAGCT	0.453																																						uc001mqi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(583-585)CGG>AGG		anoctamin 5 isoform a							116.0	113.0	114.0					11																	22249067		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249067C>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.583C>A	11.37:g.22249067C>A						ANO5_uc001mqj.2_Silent_p.R194R	p.R195R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	900	+			195			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.583C>A	CCDS31444.1																																																																																				PASS	0.453	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		21	47	21	47	---	---	---	---
BBOX1	8424	broad.mit.edu	37	11	27148880	27148880	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:27148880C>T	ENST00000529202.1	+	8	1383	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G	BBOX1_ENST00000528583.1_Silent_p.G348G|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000263182.3_Silent_p.G348G|BBOX1_ENST00000525090.1_Silent_p.G348G			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	348					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.G348G(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TACTTCATGGCCGACGTAGCT	0.408																																						uc001mre.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1042-1044)GGC>GGT		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						126.0	110.0	115.0					11																	27148880		2202	4299	6501	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148880C>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.1044C>T	11.37:g.27148880C>T						BBOX1_uc009yih.1_Silent_p.G348G|BBOX1_uc001mrg.1_Silent_p.G348G	p.G348G	NM_003986	NP_003977	O75936	BODG_HUMAN			9	1412	+			348					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.1044C>T	CCDS7862.1																																																																																				PASS	0.408	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		14	28	14	28	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587801	55587801	+	Silent	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:55587801C>G	ENST00000333976.4	+	1	716	c.696C>G	c.(694-696)gtC>gtG	p.V232V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V232V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCGTTCAGTCAGTGGGCGCC	0.493																																						uc010rin.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(694-696)GTC>GTG		olfactory receptor, family 5, subfamily D,							146.0	122.0	130.0					11																	55587801		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587801C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.696C>G	11.37:g.55587801C>G							p.V232V	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	696	+		all_epithelial(135;0.208)	232			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.696C>G	CCDS31510.1																																																																																				PASS	0.493	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		27	67	27	67	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55944513	55944513	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:55944513G>T	ENST00000312298.1	+	1	420	c.420G>T	c.(418-420)aaG>aaT	p.K140N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K140N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGATAGAAAGTGTGTGGAGC	0.453																																						uc010rjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(418-420)AAG>AAT		olfactory receptor, family 5, subfamily J,							163.0	150.0	155.0					11																	55944513		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944513G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.420G>T	11.37:g.55944513G>T	ENSP00000310788:p.Lys140Asn						p.K140N	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	420	+	Esophageal squamous(21;0.00693)		140			Helical; Name=4; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.420G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887060	0.52014	.	.	ENSG00000174957	ENST00000312298	T	0.37584	1.19	4.67	-3.25	0.05079	GPCR, rhodopsin-like superfamily (1);	0.744775	0.11777	N	0.530487	T	0.28797	0.0714	N	0.24115	0.695	0.09310	N	1	P	0.52316	0.952	P	0.54815	0.761	T	0.17107	-1.0380	10	0.87932	D	0	.	2.5363	0.04715	0.2141:0.3427:0.3266:0.1166	.	140	Q8NH18	OR5J2_HUMAN	N	140	ENSP00000310788:K140N	ENSP00000310788:K140N	K	+	3	2	OR5J2	55701089	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.560000	0.02160	-0.398000	0.07679	-0.292000	0.09595	AAG		PASS	0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		17	52	17	52	---	---	---	---
OR5T2	219464	broad.mit.edu	37	11	56000524	56000524	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:56000524A>G	ENST00000313264.4	-	1	213	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T46T(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGGTAACTTCAGTGACATTCT	0.363																																						uc010rjc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(136-138)ACT>ACC		olfactory receptor, family 5, subfamily T,							69.0	61.0	64.0					11																	56000524		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000524A>G	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.138T>C	11.37:g.56000524A>G							p.T46T	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	138	-	Esophageal squamous(21;0.00448)		46			Extracellular (Potential).		B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.138T>C	CCDS31523.1																																																																																				PASS	0.363	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		16	45	16	45	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230145	56230145	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:56230145C>A	ENST00000279791.1	-	1	732	c.733G>T	c.(733-735)Gct>Tct	p.A245S		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A245S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATAGAAACAGCCGTCAAGTGG	0.532																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(733-735)GCT>TCT		olfactory receptor, family 5, subfamily M,							54.0	50.0	52.0					11																	56230145		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230145C>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.733G>T	11.37:g.56230145C>A	ENSP00000279791:p.Ala245Ser						p.A245S	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	733	-	Esophageal squamous(21;0.00448)		245			Helical; Name=6; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.733G>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.232848	0.22626	.	.	ENSG00000150269	ENST00000279791	T	0.00164	8.64	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000500	T	0.00210	0.0006	L	0.52126	1.63	0.09310	N	1	P	0.39551	0.678	B	0.41619	0.361	T	0.55982	-0.8054	10	0.49607	T	0.09	-14.8469	14.8093	0.69982	0.0:1.0:0.0:0.0	.	245	Q8NGP3	OR5M9_HUMAN	S	245	ENSP00000279791:A245S	ENSP00000279791:A245S	A	-	1	0	OR5M9	55986721	0.001000	0.12720	0.875000	0.34327	0.018000	0.09664	1.689000	0.37700	2.160000	0.67779	0.542000	0.68232	GCT		PASS	0.532	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		7	20	7	20	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958617	57958617	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:57958617C>G	ENST00000311591.3	+	1	712	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L219V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGTATCCTACCTGTTTATCAT	0.522																																						uc010rka.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(655-657)CTG>GTG		olfactory receptor, family 9, subfamily Q,							175.0	168.0	171.0					11																	57958617		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958617C>G	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.655C>G	11.37:g.57958617C>G	ENSP00000308714:p.Leu219Val						p.L219V	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	655	+		Breast(21;0.0589)	219			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000311591.3	37	c.655C>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560057	0.13498	.	.	ENSG00000186513	ENST00000311591	T	0.00021	9.02	4.96	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	0.957393	0.08520	N	0.933635	T	0.00073	0.0002	N	0.04148	-0.265	0.22435	N	0.999106	B	0.22541	0.071	B	0.26310	0.068	T	0.00563	-1.1669	10	0.25751	T	0.34	-1.4969	3.0518	0.06172	0.117:0.3552:0.3439:0.1839	.	219	Q8NGE9	OR9Q2_HUMAN	V	219	ENSP00000308714:L219V	ENSP00000308714:L219V	L	+	1	2	OR9Q2	57715193	0.000000	0.05858	0.998000	0.56505	0.648000	0.38561	-2.271000	0.01166	0.068000	0.16574	-0.251000	0.11542	CTG		PASS	0.522	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		11	47	11	47	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982498	57982499	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:57982498_57982499GC>CT	ENST00000309433.6	+	1	282_283	c.282_283GC>CT	c.(280-285)atGCtg>atCTtg	p.M94I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M94I(2)|p.L95L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCCCCAAAATGCTGGTGAATAT	0.406																																						uc010rkc.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(1)	1						c.(280-282)ATG>ATC|c.(283-285)CTG>TTG		olfactory receptor, family 1, subfamily S,																																				SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982498G>C|g.chr11:57982499C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	Exception_encountered	11.37:g.57982498_57982499delinsCT	ENSP00000311688:p.Met94Ile						p.M94I|p.L95L	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	282|283	+		Breast(21;0.0589)	94|95			Extracellular (Potential).		Q6IFG3	Missense_Mutation|Silent	SNP	ENST00000309433.6	37	c.282G>C|c.283C>T	CCDS31546.1																																																																																				PASS	0.406	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		22|20	117	20	117	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58274962	58274962	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:58274962A>T	ENST00000360374.2	-	1	616	c.617T>A	c.(616-618)tTc>tAc	p.F206Y		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F206Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAGGAGGGTGAAAAAGACGTT	0.473																																						uc010rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(616-618)TTC>TAC		olfactory receptor, family 5, subfamily B,							51.0	50.0	50.0					11																	58274962		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58274962A>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.617T>A	11.37:g.58274962A>T	ENSP00000353537:p.Phe206Tyr						p.F206Y	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	617	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	206			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.617T>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.403623	0.42613	.	.	ENSG00000198283	ENST00000360374	T	0.38560	1.13	5.02	0.0127	0.14093	GPCR, rhodopsin-like superfamily (1);	0.924876	0.08864	U	0.882526	T	0.59487	0.2197	M	0.81497	2.545	0.09310	N	1	D	0.60160	0.987	D	0.67725	0.953	T	0.51482	-0.8700	10	0.21540	T	0.41	-5.9682	8.5466	0.33426	0.6718:0.0:0.3282:0.0	.	206	A6NL26	OR5BL_HUMAN	Y	206	ENSP00000353537:F206Y	ENSP00000353537:F206Y	F	-	2	0	OR5B21	58031538	0.000000	0.05858	0.021000	0.16686	0.718000	0.41266	0.099000	0.15210	-0.134000	0.11516	0.460000	0.39030	TTC		PASS	0.473	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		12	31	12	31	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61490431	61490431	+	Splice_Site	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:61490431C>G	ENST00000257215.5	+	4	524	c.408C>G	c.(406-408)ctC>ctG	p.L136L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	136					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L136L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATGTCACCCTCGGTACGTCTG	0.592																																						uc001nsa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(406-408)CTC>CTG		neural stem cell-derived dendrite regulator							168.0	113.0	131.0					11																	61490431		2202	4299	6501	SO:0001630	splice_region_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490431C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.409+1C>G	11.37:g.61490431C>G							p.L136L	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	4	519	+			136			Extracellular (Potential).		A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.408C>G	CCDS31578.1																																																																																				PASS	0.592	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	Silent	14	47	14	47	---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61645000	61645000	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:61645000C>A	ENST00000278829.2	-	7	1020	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L	FADS3_ENST00000525588.1_Missense_Mutation_p.V262L|FADS3_ENST00000540820.1_Missense_Mutation_p.V290L|FADS3_ENST00000527697.1_Missense_Mutation_p.V166L	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	290					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)	p.V290L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGCATGCACACCAGCATGTAC	0.637																																						uc001nsm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(868-870)GTG>TTG		fatty acid desaturase 3							111.0	95.0	100.0					11																	61645000		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645000C>A		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.868G>T	11.37:g.61645000C>A	ENSP00000278829:p.Val290Leu					FADS3_uc001nsn.2_Missense_Mutation_p.V166L	p.V290L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			7	1021	-			290			Lumenal (Potential).		O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.868G>T	CCDS8013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.61|10.61	1.397844|1.397844	0.25205|0.25205	.|.	.|.	ENSG00000221968|ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223|ENST00000527379	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.69|5.69	2.74|2.74	0.32292|0.32292	Fatty acid desaturase, type 1 (1);|.	.|.	.|.	.|.	.|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.10972|0.10972	0.075|0.075	0.24072|0.24072	N|N	0.995979|0.995979	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.25572|0.25572	-1.0128|-1.0128	9|5	0.09338|.	T|.	0.73|.	-18.5323|-18.5323	6.0388|6.0388	0.19722|0.19722	0.0:0.5422:0.2983:0.1595|0.0:0.5422:0.2983:0.1595	.|.	166;290|.	E9PKP8;Q9Y5Q0|.	.;FADS3_HUMAN|.	L|C	166;290;290;262;166;166|64	ENSP00000431533:V166L;ENSP00000278829:V290L;ENSP00000439308:V290L;ENSP00000432206:V262L;ENSP00000436890:V166L;ENSP00000434551:V166L|.	ENSP00000278829:V290L|.	V|W	-|-	1|3	0|0	FADS3|FADS3	61401576|61401576	0.041000|0.041000	0.20044|0.20044	0.999000|0.999000	0.59377|0.59377	0.979000|0.979000	0.70002|0.70002	-0.226000|-0.226000	0.09139|0.09139	0.317000|0.317000	0.23160|0.23160	0.561000|0.561000	0.74099|0.74099	GTG|TGG		PASS	0.637	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			9	24	9	24	---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64695280	64695280	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:64695280G>A	ENST00000164133.2	+	4	1025	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	135					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V135M(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAGATCTCAGTGAATATCTT	0.483																																						uc001oby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(403-405)GTG>ATG		beta isoform of regulatory subunit B56, protein							71.0	73.0	72.0					11																	64695280		2201	4297	6498	SO:0001583	missense	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695280G>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.403G>A	11.37:g.64695280G>A	ENSP00000164133:p.Val135Met					PPP2R5B_uc001obz.2_Missense_Mutation_p.V135M	p.V135M	NM_006244	NP_006235	Q15173	2A5B_HUMAN			4	988	+			135					Q13853	Missense_Mutation	SNP	ENST00000164133.2	37	c.403G>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312507	0.81358	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.51	3.51	0.40186	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.72463	0.3463	M	0.85041	2.73	0.54753	D	0.999988	P	0.47484	0.896	P	0.50162	0.633	T	0.79011	-0.1977	9	0.66056	D	0.02	-21.0796	13.3646	0.60676	0.0:0.0:1.0:0.0	.	135	Q15173	2A5B_HUMAN	M	135;135;162;49;135	.	ENSP00000164133:V135M	V	+	1	0	PPP2R5B	64451856	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.727000	0.54984	2.284000	0.76573	0.561000	0.74099	GTG		PASS	0.483	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		19	40	19	40	---	---	---	---
VPS51	738	broad.mit.edu	37	11	64878989	64878989	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:64878989C>T	ENST00000279281.3	+	10	2371	c.2279C>T	c.(2278-2280)gCt>gTt	p.A760V	TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000345348.5_5'Flank|TM7SF2_ENST00000279263.7_5'Flank|AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	760					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A760V(1)									GTGGCCTCTGCTGCCCTGCGC	0.637																																						uc001ocr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2278-2280)GCT>GTT		chromosome 11 open reading frame 2							96.0	72.0	80.0					11																	64878989		2200	4297	6497	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64878989C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.2279C>T	11.37:g.64878989C>T	ENSP00000279281:p.Ala760Val					TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A636V	p.A760V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			10	2319	+			760					Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.2279C>T	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283126	0.95489	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.05	5.05	0.67936	.	0.112759	0.64402	D	0.000013	T	0.72542	0.3473	M	0.73217	2.22	0.80722	D	1	D	0.61697	0.99	P	0.54140	0.743	T	0.76721	-0.2855	9	0.87932	D	0	-9.3473	16.005	0.80357	0.0:1.0:0.0:0.0	.	760	Q9UID3	FFR_HUMAN	V	760	.	ENSP00000279281:A760V	A	+	2	0	C11orf2	64635565	0.993000	0.37304	0.998000	0.56505	0.959000	0.62525	5.502000	0.66956	2.647000	0.89833	0.555000	0.69702	GCT		PASS	0.637	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		13	20	13	20	---	---	---	---
TMEM134	80194	broad.mit.edu	37	11	67234994	67234994	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:67234994G>C	ENST00000308022.2	-	3	348	c.307C>G	c.(307-309)Cgc>Ggc	p.R103G	TMEM134_ENST00000452789.2_Missense_Mutation_p.R94G|TMEM134_ENST00000393877.3_Missense_Mutation_p.R103G|TMEM134_ENST00000541059.1_5'UTR	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral component of membrane (GO:0016021)		p.R103G(1)		endometrium(1)|lung(1)	2						TTGTAGGAGCGCTGGGTGCTG	0.682																																						uc001olq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)CGC>GGC		transmembrane protein 134 isoform a							60.0	58.0	58.0					11																	67234994		2200	4295	6495	SO:0001583	missense	80194					integral to membrane		g.chr11:67234994G>C	AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.307C>G	11.37:g.67234994G>C	ENSP00000312615:p.Arg103Gly					TMEM134_uc001olp.1_Missense_Mutation_p.R94G|TMEM134_uc001olr.1_Missense_Mutation_p.R103G|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA|TMEM134_uc010rpt.1_Missense_Mutation_p.R94G|TMEM134_uc009yrx.2_Missense_Mutation_p.R103G|TMEM134_uc010rpu.1_Missense_Mutation_p.S97R|TMEM134_uc001olu.3_Missense_Mutation_p.S106R	p.R103G	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN			3	375	-			103			Cytoplasmic (Potential).		Q08AK4|Q6PJN3	Missense_Mutation	SNP	ENST00000308022.2	37	c.307C>G	CCDS8167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.22|13.22	2.172657|2.172657	0.38413|0.38413	.|.	.|.	ENSG00000172663|ENSG00000172663	ENST00000393877;ENST00000308022;ENST00000452789|ENST00000544903	.|.	.|.	.|.	3.94|3.94	3.02|3.02	0.34903|0.34903	.|.	0.341198|.	0.21397|.	N|.	0.075210|.	T|T	0.36413|0.36413	0.0966|0.0966	L|L	0.43152|0.43152	1.355|1.355	0.23953|0.23953	N|N	0.996366|0.996366	D;D;D;D|D;D	0.71674|0.53462	0.994;0.992;0.992;0.998|0.96;0.96	D;D;D;D|P;P	0.79108|0.49140	0.988;0.979;0.969;0.992|0.449;0.601	T|T	0.15065|0.15065	-1.0450|-1.0450	9|8	0.46703|0.87932	T|D	0.11|0	.|.	7.2939|7.2939	0.26383|0.26383	0.1239:0.0:0.8761:0.0|0.1239:0.0:0.8761:0.0	.|.	94;103;103;103|97;106	B4DLG6;Q9H6X4-3;Q9H6X4-2;Q9H6X4|B4E0E3;G3V1M5	.;.;.;TM134_HUMAN|.;.	G|R	103;103;94|106	.|.	ENSP00000312615:R103G|ENSP00000440630:S97R	R|S	-|-	1|3	0|2	TMEM134|TMEM134	66991570|66991570	0.844000|0.844000	0.29557|0.29557	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	1.472000|1.472000	0.35376|0.35376	0.885000|0.885000	0.36088|0.36088	0.289000|0.289000	0.19496|0.19496	CGC|AGC		PASS	0.682	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398994.1	NM_025124		4	35	4	35	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73785376	73785376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:73785376G>A	ENST00000334126.7	-	24	5099	c.4873C>T	c.(4873-4875)Cag>Tag	p.Q1625*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q1625*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1625	C2 2.			Q -> R (in Ref. 1; BAC86334). {ECO:0000305}.	brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.Q1625*(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGCCCTCCTGCGTCAGGCGG	0.567																																						uc001ouu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(4873-4875)CAG>TAG		C2 calcium-dependent domain containing 3							104.0	92.0	96.0					11																	73785376		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73785376G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4873C>T	11.37:g.73785376G>A	ENSP00000334379:p.Gln1625*					C2CD3_uc001out.2_RNA	p.Q1625*	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			24	5100	-	Breast(11;4.16e-06)		1625	Q -> R (in Ref. 1; BAC86334).		C2 2.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.4873C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.217492	0.79352	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	.	.	.	5.41	3.38	0.38709	.	0.588619	0.18330	N	0.144516	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	0.0011	9.2096	0.37311	0.0:0.1578:0.6795:0.1627	.	.	.	.	X	1625;1625;1606;433	.	ENSP00000323339:Q1625X	Q	-	1	0	C2CD3	73463024	1.000000	0.71417	0.883000	0.34634	0.423000	0.31445	3.365000	0.52335	1.368000	0.46115	0.655000	0.94253	CAG		PASS	0.567	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		5	44	5	44	---	---	---	---
CCDC89	220388	broad.mit.edu	37	11	85397009	85397009	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:85397009C>A	ENST00000316398.3	-	1	311	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	55						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L55L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTCCTCTGACAGTCCCCGGA	0.547																																						uc001pau.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(163-165)CTG>CTT		coiled-coil domain containing 89							75.0	66.0	69.0					11																	85397009		2203	4299	6502	SO:0001819	synonymous_variant	220388					cytoplasm|nucleus		g.chr11:85397009C>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.165G>T	11.37:g.85397009C>A							p.L55L	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	312	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	55			Potential.			Silent	SNP	ENST00000316398.3	37	c.165G>T	CCDS8270.1																																																																																				PASS	0.547	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		13	40	13	40	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93826744	93826744	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:93826744C>A	ENST00000315765.9	+	13	2380	c.2372C>A	c.(2371-2373)aCg>aAg	p.T791K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				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.T795K(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)				AGGGAATATACGGATGGAGAA	0.463																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2371-2373)ACG>AAG		hephaestin-like 1 precursor							162.0	157.0	158.0					11																	93826744		1901	4133	6034	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93826744C>A	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.2372C>A	11.37:g.93826744C>A	ENSP00000313699:p.Thr791Lys					uc001pen.1_Intron	p.T791K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			13	2529	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	791			Plastocyanin-like 5.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2372C>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619078	0.87460	.	.	ENSG00000181333	ENST00000315765	D	0.99176	-5.52	5.67	5.67	0.87782	Cupredoxin (2);	0.045313	0.85682	D	0.000000	D	0.98563	0.9520	M	0.81179	2.53	0.46396	D	0.999027	D	0.56287	0.975	P	0.46940	0.532	D	0.98794	1.0737	10	0.52906	T	0.07	-2.2046	15.3869	0.74708	0.1399:0.8601:0.0:0.0	.	791	Q6MZM0	HPHL1_HUMAN	K	791	ENSP00000313699:T791K	ENSP00000313699:T791K	T	+	2	0	HEPHL1	93466392	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	5.338000	0.65947	2.683000	0.91414	0.542000	0.68232	ACG		PASS	0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		60	99	60	99	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93836182	93836182	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:93836182T>A	ENST00000315765.9	+	15	2686	c.2678T>A	c.(2677-2679)gTg>gAg	p.V893E		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	893	Plastocyanin-like 5.				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.V897E(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)				GTAAACTTTGTGAAGGTAAGG	0.378																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2677-2679)GTG>GAG		hephaestin-like 1 precursor							61.0	58.0	59.0					11																	93836182		1823	4070	5893	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93836182T>A	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.2678T>A	11.37:g.93836182T>A	ENSP00000313699:p.Val893Glu					uc001pen.1_Intron	p.V893E	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			15	2835	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	893			Plastocyanin-like 5.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2678T>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363989	0.82353	.	.	ENSG00000181333	ENST00000315765	D	0.98567	-5.0	5.16	5.16	0.70880	Cupredoxin (2);	0.244638	0.42294	D	0.000723	D	0.98030	0.9351	L	0.55834	1.745	0.44862	D	0.997873	D	0.57899	0.981	D	0.66602	0.945	D	0.97882	1.0292	10	0.10902	T	0.67	-19.1856	15.0154	0.71581	0.0:0.0:0.0:1.0	.	893	Q6MZM0	HPHL1_HUMAN	E	893	ENSP00000313699:V893E	ENSP00000313699:V893E	V	+	2	0	HEPHL1	93475830	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.178000	0.58284	1.946000	0.56461	0.528000	0.53228	GTG		PASS	0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		8	59	8	59	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99827644	99827644	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:99827644A>T	ENST00000524871.1	+	8	1070	c.780A>T	c.(778-780)caA>caT	p.Q260H	CNTN5_ENST00000527185.1_Missense_Mutation_p.Q260H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q260H|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q186H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q260H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	260	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Q260H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTAAAGTCCAAACATCAGATG	0.458																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(778-780)CAA>CAT		contactin 5 isoform long							71.0	69.0	70.0					11																	99827644		1900	4097	5997	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827644A>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.780A>T	11.37:g.99827644A>T	ENSP00000435637:p.Gln260His					CNTN5_uc009ywv.1_Missense_Mutation_p.Q260H|CNTN5_uc001pfz.2_Missense_Mutation_p.Q260H|CNTN5_uc001pgb.2_Missense_Mutation_p.Q186H	p.Q260H	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1119	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	260			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.780A>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589050	0.66105	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.47	0.617	0.17619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056586	0.64402	D	0.000001	T	0.22475	0.0542	L	0.39020	1.185	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.00792	-1.1564	10	0.87932	D	0	.	8.7511	0.34616	0.6081:0.0:0.3919:0.0	.	260;186;260	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	H	260;260;260;186;260	ENSP00000433575:Q260H;ENSP00000436185:Q260H;ENSP00000435637:Q260H;ENSP00000393229:Q186H;ENSP00000279463:Q260H	ENSP00000279463:Q260H	Q	+	3	2	CNTN5	99332854	1.000000	0.71417	0.682000	0.30024	0.998000	0.95712	2.968000	0.49224	0.128000	0.18479	0.477000	0.44152	CAA		PASS	0.458	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		20	31	20	31	---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101771162	101771162	+	Splice_Site	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:101771162T>C	ENST00000334289.3	-	7	1255	c.660A>G	c.(658-660)ctA>ctG	p.L220L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	220	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.L220L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AAAATTAACCTAGAAGATCTC	0.348																																						uc001pgl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(658-660)CTA>CTG		angiopoietin-like 5 precursor							111.0	101.0	104.0					11																	101771162		2203	4299	6502	SO:0001630	splice_region_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101771162T>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.661+1A>G	11.37:g.101771162T>C							p.L220L	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	7	1256	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	220			Fibrinogen C-terminal.		A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.660A>G	CCDS8312.1																																																																																				PASS	0.348	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	Silent	19	28	19	28	---	---	---	---
ZC3H12C	85463	broad.mit.edu	37	11	110034020	110034020	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:110034020C>A	ENST00000278590.3	+	5	1222	c.1171C>A	c.(1171-1173)Ctt>Att	p.L391I	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.L392I|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.L360I	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	391							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.L391I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGATGACCCTCTTGGCAGACA	0.393																																						uc009yxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CTT>ATT		zinc finger CCCH-type containing 12C							51.0	46.0	48.0					11																	110034020		1833	4084	5917	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110034020C>A		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1171C>A	11.37:g.110034020C>A	ENSP00000278590:p.Leu391Ile					ZC3H12C_uc010rwc.1_Missense_Mutation_p.L392I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.L392I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.L360I	p.L391I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	1222	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	391					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1171C>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337662	0.81911	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.48836	0.8;0.8;0.8	5.78	5.78	0.91487	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	M	0.91140	3.18	0.47547	D	0.999452	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.994	T	0.79509	-0.1774	10	0.87932	D	0	-18.4675	13.229	0.59931	0.0:0.9275:0.0:0.0725	.	392;391;391	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	I	391;392;360	ENSP00000278590:L391I;ENSP00000431821:L392I;ENSP00000413094:L360I	ENSP00000278590:L391I	L	+	1	0	ZC3H12C	109539230	0.997000	0.39634	0.986000	0.45419	0.993000	0.82548	3.567000	0.53813	2.733000	0.93635	0.561000	0.74099	CTT		PASS	0.393	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		4	35	4	35	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113570795	113570795	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:113570795C>A	ENST00000299882.5	-	2	247	c.99G>T	c.(97-99)caG>caT	p.Q33H	TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000538955.1_Intron|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.Q33H|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545579.1_5'UTR|TMPRSS5_ENST00000540540.1_Intron	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	33					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q33H(2)		endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		TACTGGGATGCTGCTGGTCTC	0.617																																						uc001poc.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(97-99)CAG>CAT		transmembrane protease, serine 5							27.0	30.0	29.0					11																	113570795		1967	4145	6112	SO:0001583	missense	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113570795C>A	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.99G>T	11.37:g.113570795C>A	ENSP00000299882:p.Gln33His					TMPRSS5_uc009yys.2_5'UTR|TMPRSS5_uc009yyt.2_Intron|TMPRSS5_uc001pod.3_Intron|TMPRSS5_uc010rww.1_Missense_Mutation_p.Q23H|TMPRSS5_uc009yyu.2_Intron|TMPRSS5_uc010rwx.1_Intron	p.Q33H	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	2	221	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	33			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299882.5	37	c.99G>T	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.398368	0.25205	.	.	ENSG00000166682	ENST00000299882;ENST00000544634	D;D	0.88741	-2.37;-2.42	3.85	1.98	0.26296	.	1.074000	0.07436	N	0.896481	D	0.83073	0.5175	L	0.29908	0.895	0.80722	D	1	P;P	0.47677	0.899;0.553	B;B	0.44163	0.443;0.28	T	0.74380	-0.3684	10	0.39692	T	0.17	.	6.1332	0.20217	0.0:0.7686:0.0:0.2314	.	33;33	F5GYA3;Q9H3S3	.;TMPS5_HUMAN	H	33	ENSP00000299882:Q33H;ENSP00000440783:Q33H	ENSP00000299882:Q33H	Q	-	3	2	TMPRSS5	113076005	0.992000	0.36948	0.991000	0.47740	0.349000	0.29174	0.658000	0.24979	0.598000	0.29829	0.298000	0.19748	CAG		PASS	0.617	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		3	9	3	9	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650742	113650742	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:113650742G>C	ENST00000453129.2	+	1	274	c.225G>C	c.(223-225)caG>caC	p.Q75H		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.Q75H(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCTGCCCCAGGAGCTCCAGG	0.562																																						uc009yyw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CAG>CAC		claudin 25							97.0	109.0	105.0					11																	113650742		2187	4291	6478	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650742G>C		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.225G>C	11.37:g.113650742G>C	ENSP00000396304:p.Gln75His						p.Q75H	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	225	+			75			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.225G>C	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737929	0.49045	.	.	ENSG00000228607	ENST00000453129	D	0.88896	-2.44	4.91	0.717	0.18196	.	.	.	.	.	D	0.89483	0.6728	M	0.72894	2.215	0.23435	N	0.997685	P	0.45011	0.848	P	0.53266	0.722	T	0.79822	-0.1641	9	0.62326	D	0.03	.	2.3987	0.04396	0.1549:0.2764:0.4269:0.1418	.	75	C9JDP6	CLD25_HUMAN	H	75	ENSP00000396304:Q75H	ENSP00000396304:Q75H	Q	+	3	2	CLDN25	113155952	0.058000	0.20735	0.486000	0.27416	0.995000	0.86356	0.335000	0.19806	-0.017000	0.14103	0.650000	0.86243	CAG		PASS	0.562	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		47	112	47	112	---	---	---	---
APOA4	337	broad.mit.edu	37	11	116692455	116692455	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:116692455C>T	ENST00000357780.3	-	3	433	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	107	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)	p.E107K(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;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)		ctcagctcctccagctccttc	0.622																																						uc001pps.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GAG>AAG		apolipoprotein A-IV precursor							36.0	33.0	34.0					11																	116692455		2200	4294	6494	SO:0001583	missense	337							g.chr11:116692455C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.319G>A	11.37:g.116692455C>T	ENSP00000350425:p.Glu107Lys						p.E107K	NM_000482	NP_000473				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)	3	423	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.319G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868060	0.51588	.	.	ENSG00000110244	ENST00000357780	T	0.77750	-1.12	5.02	3.11	0.35812	Apolipoprotein/apolipophorin (1);	0.476496	0.20537	N	0.090387	T	0.74512	0.3726	M	0.70108	2.13	0.44261	D	0.997114	B	0.25667	0.131	B	0.25759	0.063	T	0.74234	-0.3731	10	0.72032	D	0.01	-12.9105	9.6051	0.39628	0.0:0.7766:0.1441:0.0793	.	107	P06727	APOA4_HUMAN	K	107	ENSP00000350425:E107K	ENSP00000350425:E107K	E	-	1	0	APOA4	116197665	0.789000	0.28775	1.000000	0.80357	0.956000	0.61745	1.155000	0.31700	1.085000	0.41206	0.462000	0.41574	GAG		PASS	0.622	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		4	10	4	10	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117308664	117308664	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:117308664C>T	ENST00000321322.6	-	25	4560	c.4559G>A	c.(4558-4560)aGc>aAc	p.S1520N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1250N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1460	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S1520N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGAGCCCACGCTGTTCTTGGC	0.637																																						uc001prh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(4558-4560)AGC>AAC		Down syndrome cell adhesion molecule like 1							107.0	79.0	89.0					11																	117308664		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308664C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4559G>A	11.37:g.117308664C>T	ENSP00000315465:p.Ser1520Asn						p.S1520N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4561	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1460			Fibronectin type-III 5.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4559G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906053	0.33628	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56776	0.44;0.44	4.17	4.17	0.49024	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48021	0.1477	L	0.29908	0.895	0.50039	D	0.999845	P	0.34699	0.464	B	0.42692	0.395	T	0.37244	-0.9714	9	0.19147	T	0.46	.	17.0825	0.86602	0.0:1.0:0.0:0.0	.	1460	Q8TD84	DSCL1_HUMAN	N	1250;1520;1227	ENSP00000434335:S1250N;ENSP00000315465:S1520N	ENSP00000315465:S1520N	S	-	2	0	DSCAML1	116813874	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.687000	0.68219	2.313000	0.78055	0.549000	0.68633	AGC		PASS	0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		9	25	9	25	---	---	---	---
OR6X1	390260	broad.mit.edu	37	11	123624810	123624810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr11:123624810G>T	ENST00000327930.2	-	1	443	c.417C>A	c.(415-417)tgC>tgA	p.C139*		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C139*(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCAGCTGCAGGCAGAGTTTGC	0.522																																						uc010rzy.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(1)	3						c.(415-417)TGC>TGA		olfactory receptor, family 6, subfamily X,							106.0	108.0	107.0					11																	123624810		2202	4299	6501	SO:0001587	stop_gained	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624810G>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.417C>A	11.37:g.123624810G>T	ENSP00000333724:p.Cys139*						p.C139*	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	417	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	139			Helical; Name=4; (Potential).		B9EGW9|Q6IFA0	Nonsense_Mutation	SNP	ENST00000327930.2	37	c.417C>A	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412799	0.83340	.	.	ENSG00000221931	ENST00000327930	.	.	.	4.55	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.855	6.4481	0.21887	0.2996:0.0:0.7004:0.0	.	.	.	.	X	139	.	ENSP00000333724:C139X	C	-	3	2	OR6X1	123130020	0.001000	0.12720	0.975000	0.42487	0.978000	0.69477	0.296000	0.19083	0.555000	0.29079	-0.142000	0.14014	TGC		PASS	0.522	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		21	78	21	78	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	330173	330173	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:330173C>A	ENST00000343164.4	-	15	1802	c.1750G>T	c.(1750-1752)Gct>Tct	p.A584S	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.A492S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	584					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.A584S(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)			GTGGCGGGAGCCGAGGGTCCT	0.657																																						uc001qic.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1750-1752)GCT>TCT		solute carrier family 6 (neurotransmitter							51.0	49.0	50.0					12																	330173		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330173C>A	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.1750G>T	12.37:g.330173C>A	ENSP00000339260:p.Ala584Ser					SLC6A13_uc009zdj.1_Missense_Mutation_p.A574S|SLC6A13_uc010sdl.1_Missense_Mutation_p.A492S	p.A584S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1803	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		584			Cytoplasmic (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1750G>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080222	0.20309	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73469	-0.73;-0.75	4.15	-1.59	0.08453	.	3.465800	0.01015	N	0.003884	T	0.48059	0.1479	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.32107	-0.9919	10	0.12103	T	0.63	.	0.3524	0.00351	0.3771:0.2054:0.1393:0.2782	.	492;563;584	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	S	492;563;584	ENSP00000407104:A492S;ENSP00000339260:A584S	ENSP00000318097:A563S	A	-	1	0	SLC6A13	200434	0.001000	0.12720	0.001000	0.08648	0.434000	0.31775	-0.263000	0.08670	-0.172000	0.10779	0.448000	0.29417	GCT		PASS	0.657	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		8	11	8	11	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6061009	6061009	+	Splice_Site	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:6061009C>A	ENST00000261405.5	-	50	8410		c.e50+1			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AACGCACTCACATGTGTCACA	0.448																																						uc001qnn.1																			1	Unknown(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.e50+1		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						102.0	98.0	99.0					12																	6061009		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6061009C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8155+1G>T	12.37:g.6061009C>A						VWF_uc010set.1_Intron	p.C2719_splice	NM_000552	NP_000543	P04275	VWF_HUMAN			50	8405	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.8155_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319034	0.41096	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9956	0.80237	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	5931270	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	5.676000	0.68131	2.376000	0.81061	0.555000	0.69702	.		PASS	0.448	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	12	28	12	28	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6964980	6964980	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:6964980C>T	ENST00000229268.8	+	3	351	c.299C>T	c.(298-300)gCt>gTt	p.A100V	USP5_ENST00000389231.5_Missense_Mutation_p.A100V	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	100					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.A100V(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACGCGGCTGGCTATTGGTGAG	0.577																																						uc001qri.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(1)|skin(1)	4						c.(298-300)GCT>GTT		ubiquitin specific peptidase 5 isoform 1							54.0	59.0	58.0					12																	6964980		2203	4300	6503	SO:0001583	missense	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6964980C>T	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.299C>T	12.37:g.6964980C>T	ENSP00000229268:p.Ala100Val					USP5_uc001qrh.3_Missense_Mutation_p.A100V	p.A100V	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			3	358	+			100					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.299C>T	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286455	0.95517	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.27720	1.65;1.67	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	M	0.83603	2.65	0.80722	D	1	P;D	0.89917	0.907;1.0	P;D	0.73708	0.576;0.981	T	0.64668	-0.6353	10	0.59425	D	0.04	-4.3986	18.8078	0.92045	0.0:1.0:0.0:0.0	.	100;100	P45974;P45974-2	UBP5_HUMAN;.	V	100	ENSP00000229268:A100V;ENSP00000373883:A100V	ENSP00000229268:A100V	A	+	2	0	USP5	6835241	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.320000	0.79064	2.677000	0.91161	0.655000	0.94253	GCT		PASS	0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			12	29	12	29	---	---	---	---
C1R	715	broad.mit.edu	37	12	7187955	7187955	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:7187955G>A	ENST00000542285.1	-	11	1992	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C				P00736	C1R_HUMAN	complement component 1, r subcomponent	667	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R630C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCACCCAGCGATCAGTGTTC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc010sfy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1999-2001)CGC>TGC		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						62.0	69.0	67.0					12																	7187955		2107	4257	6364	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7187955G>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1843C>T	12.37:g.7187955G>A	ENSP00000438615:p.Arg615Cys						p.R667C	NM_001733	NP_001724	P00736	C1R_HUMAN			10	2058	-			667			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1999C>T		.	.	.	.	.	.	.	.	.	.	G	17.98	3.519879	0.64634	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.48836	0.8	5.7	4.79	0.61399	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.553954	0.18414	N	0.141963	T	0.60625	0.2283	.	.	.	0.41209	D	0.986424	D	0.71674	0.998	P	0.54140	0.743	T	0.66069	-0.6015	9	0.87932	D	0	.	13.9649	0.64202	0.0:0.0:0.8435:0.1565	.	667	P00736	C1R_HUMAN	C	630;615	ENSP00000438615:R615C	ENSP00000290575:R630C	R	-	1	0	C1R	7058210	0.492000	0.26027	0.882000	0.34594	0.536000	0.34869	2.197000	0.42696	1.334000	0.45468	0.655000	0.94253	CGC		PASS	0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		10	41	10	41	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7882298	7882298	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:7882298C>A	ENST00000542353.1	-	7	1026	c.536G>T	c.(535-537)cGt>cTt	p.R179L	CLEC4C_ENST00000540085.1_Missense_Mutation_p.R148L|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R179L|CLEC4C_ENST00000354629.5_Missense_Mutation_p.R148L	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R179L(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TATCGCACAACGCTCATCAAG	0.418																																						uc001qtg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(535-537)CGT>CTT		C-type lectin domain family 4, member C isoform							150.0	139.0	143.0					12																	7882298		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7882298C>A	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.536G>T	12.37:g.7882298C>A	ENSP00000440428:p.Arg179Leu					CLEC4C_uc001qth.1_Missense_Mutation_p.R179L|CLEC4C_uc001qti.1_Missense_Mutation_p.R148L	p.R179L	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	6	710	-			179			Extracellular (Potential).|C-type lectin.		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.536G>T	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890277	0.33348	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	1.6	-1.41	0.08941	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.17831	0.0428	N	0.11927	0.2	0.09310	N	1	P;D	0.89917	0.927;1.0	B;D	0.72625	0.231;0.978	T	0.17289	-1.0374	9	0.59425	D	0.04	.	4.8384	0.13476	0.0:0.4369:0.0:0.5631	.	148;179	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	L	179;148;148;179	ENSP00000440428:R179L;ENSP00000346648:R148L;ENSP00000445338:R148L;ENSP00000353500:R179L	ENSP00000346648:R148L	R	-	2	0	CLEC4C	7773565	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	-0.644000	0.05415	-0.462000	0.06984	0.561000	0.74099	CGT		PASS	0.418	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		17	39	17	39	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019093	14019093	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:14019093G>T	ENST00000609686.1	-	2	259	c.50C>A	c.(49-51)gCc>gAc	p.A17D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	17					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.A17D(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGGACGGCCAACACCAA	0.557																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(49-51)GCC>GAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						43.0	47.0	45.0					12																	14019093		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14019093G>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.50C>A	12.37:g.14019093G>T	ENSP00000477455:p.Ala17Asp						p.A17D	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	229	-			17					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.50C>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925978	0.52759	.	.	ENSG00000150086	ENST00000279593	T	0.11930	2.73	5.7	5.7	0.88788	.	0.218545	0.41001	D	0.000978	T	0.08980	0.0222	N	0.08118	0	0.40542	D	0.981037	P	0.36438	0.553	B	0.32465	0.146	T	0.24657	-1.0154	10	0.66056	D	0.02	.	18.0219	0.89257	0.0:0.0:1.0:0.0	.	17	Q13224	NMDE2_HUMAN	D	17	ENSP00000279593:A17D	ENSP00000279593:A17D	A	-	2	0	GRIN2B	13910360	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	5.595000	0.67563	2.680000	0.91292	0.563000	0.77884	GCC		PASS	0.557	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			9	31	9	31	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19473549	19473549	+	Silent	SNP	A	A	G	rs146976787		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:19473549A>G	ENST00000299275.6	+	13	1905	c.1899A>G	c.(1897-1899)gtA>gtG	p.V633V	PLEKHA5_ENST00000543806.1_Silent_p.V552V|PLEKHA5_ENST00000355397.3_Silent_p.V691V|PLEKHA5_ENST00000317589.4_Silent_p.V633V|PLEKHA5_ENST00000538714.1_Silent_p.V691V|PLEKHA5_ENST00000539256.1_Silent_p.V391V|PLEKHA5_ENST00000424268.1_Silent_p.V564V|PLEKHA5_ENST00000429027.2_Silent_p.V736V|PLEKHA5_ENST00000359180.3_Silent_p.V633V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	633					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.V736V(1)|p.V633V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTGAAGAAGTAGATATTGATG	0.313																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1897-1899)GTA>GTG		pleckstrin homology domain containing, family A		A	,	0,4406		0,0,2203	148.0	160.0	156.0		2073,1899	-4.3	0.4	12	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PLEKHA5	NM_001143821.2,NM_019012.5	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	691/1175,633/1117	19473549	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19473549A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1899A>G	12.37:g.19473549A>G						PLEKHA5_uc010sie.1_Silent_p.V736V|PLEKHA5_uc001rea.2_Silent_p.V691V|PLEKHA5_uc009zin.2_Silent_p.V391V|PLEKHA5_uc010sif.1_Silent_p.V564V|PLEKHA5_uc010sig.1_Silent_p.V552V|PLEKHA5_uc010sih.1_Silent_p.V525V|PLEKHA5_uc001rec.1_Silent_p.V379V|PLEKHA5_uc009zio.2_5'Flank	p.V633V	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			13	1985	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		633					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.1899A>G	CCDS8682.1																																																																																				PASS	0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		22	67	22	67	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20858991	20858991	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:20858991C>G	ENST00000266509.2	+	4	748	c.380C>G	c.(379-381)gCa>gGa	p.A127G	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.A127G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.A9G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.A127G|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.A127G	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	127					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A127G(2)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTGCTCATTGCAATGCCTCAG	0.378																																						uc001rej.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|skin(1)	7						c.(379-381)GCA>GGA		solute carrier organic anion transporter family,							209.0	205.0	207.0					12																	20858991		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20858991C>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.380C>G	12.37:g.20858991C>G	ENSP00000266509:p.Ala127Gly					SLCO1C1_uc010sii.1_Missense_Mutation_p.A127G|SLCO1C1_uc010sij.1_Missense_Mutation_p.A127G|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.A127G|SLCO1C1_uc010sik.1_Missense_Mutation_p.A9G	p.A127G	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			5	735	+	Esophageal squamous(101;0.149)		127			Helical; Name=3; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.380C>G	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682122	0.68042	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.82	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.82132	2.575	0.58432	D	0.999997	B;B;B;B	0.30511	0.282;0.06;0.078;0.027	B;B;B;B	0.43867	0.159;0.434;0.17;0.167	T	0.73751	-0.3884	10	0.62326	D	0.03	.	18.7322	0.91739	0.0:1.0:0.0:0.0	.	9;127;127;127	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	G	127;127;127;127;9	ENSP00000444149:A127G;ENSP00000438665:A127G;ENSP00000266509:A127G;ENSP00000370964:A127G;ENSP00000444527:A9G	ENSP00000266509:A127G	A	+	2	0	SLCO1C1	20750258	1.000000	0.71417	0.130000	0.21974	0.988000	0.76386	7.320000	0.79064	2.650000	0.89964	0.655000	0.94253	GCA		PASS	0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		59	161	59	161	---	---	---	---
LDHB	3945	broad.mit.edu	37	12	21790085	21790085	+	Missense_Mutation	SNP	T	T	C	rs373042868		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:21790085T>C	ENST00000396076.1	-	7	1089	c.757A>G	c.(757-759)Att>Gtt	p.I253V	LDHB_ENST00000350669.1_Missense_Mutation_p.I253V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	253					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.I253V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CTTAATCCAATAGCCCAGTTG	0.343																																						uc001rfc.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(757-759)ATT>GTT		L-lactate dehydrogenase B	NADH(DB00157)	T	VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	109.0	110.0	110.0		757,757	4.8	1.0	12		110	0,8600		0,0,4300	no	missense,missense	LDHB	NM_001174097.1,NM_002300.6	29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	253/335,253/335	21790085	1,13005	2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21790085T>C		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.757A>G	12.37:g.21790085T>C	ENSP00000379386:p.Ile253Val					LDHB_uc001rfd.2_Missense_Mutation_p.I253V|LDHB_uc001rfe.2_Missense_Mutation_p.I253V	p.I253V	NM_002300	NP_002291	P07195	LDHB_HUMAN			6	775	-			253						Missense_Mutation	SNP	ENST00000396076.1	37	c.757A>G	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.224112	0.58668	2.27E-4	0.0	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.66638	-0.22;-0.22	4.83	4.83	0.62350	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.092410	0.85682	D	0.000000	T	0.70325	0.3211	M	0.79693	2.465	0.80722	D	1	B	0.27286	0.174	B	0.31751	0.135	T	0.71337	-0.4623	10	0.45353	T	0.12	.	14.6235	0.68602	0.0:0.0:0.0:1.0	.	253	P07195	LDHB_HUMAN	V	253	ENSP00000379386:I253V;ENSP00000229319:I253V	ENSP00000229319:I253V	I	-	1	0	LDHB	21681352	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.851000	0.86920	2.054000	0.61138	0.397000	0.26171	ATT		PASS	0.343	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		21	46	21	46	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21998678	21998678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:21998678G>T	ENST00000261201.4	-	24	2954	c.2955C>A	c.(2953-2955)taC>taA	p.Y985*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Y949*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.Y985*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	985					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.Y985*(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGATGTCAGGTAGCGCCAGC	0.443																																						uc001rfi.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2953-2955)TAC>TAA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163.0	128.0	140.0					12																	21998678		2203	4300	6503	SO:0001587	stop_gained	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21998678G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2955C>A	12.37:g.21998678G>T	ENSP00000261201:p.Tyr985*					ABCC9_uc001rfh.2_Nonsense_Mutation_p.Y985*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Y949*	p.Y985*	NM_005691	NP_005682	O60706	ABCC9_HUMAN			24	2975	-			985			Cytoplasmic (Potential).		O60707	Nonsense_Mutation	SNP	ENST00000261201.4	37	c.2955C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.591621	0.98378	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	5.28	2.44	0.29823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8087	6.8704	0.24117	0.4582:0.0:0.5418:0.0	.	.	.	.	X	985;612;985;949	.	ENSP00000261200:Y985X	Y	-	3	2	ABCC9	21889945	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	2.873000	0.48475	0.820000	0.34516	-0.136000	0.14681	TAC		PASS	0.443	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		14	41	14	41	---	---	---	---
SLC38A1	81539	broad.mit.edu	37	12	46591839	46591839	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:46591839C>T	ENST00000398637.5	-	15	1821	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R376H|SLC38A1_ENST00000546893.1_Missense_Mutation_p.R376H|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R376H|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R376H	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	376					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.R376H(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TAAAGATGAACGAACCTGCAA	0.373																																						uc001rpa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1126-1128)CGT>CAT		amino acid transporter system A1							69.0	64.0	66.0					12																	46591839		1864	4103	5967	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591839C>T	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1127G>A	12.37:g.46591839C>T	ENSP00000381634:p.Arg376His					SLC38A1_uc001rpb.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpc.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpd.2_Missense_Mutation_p.R376H|SLC38A1_uc001rpe.2_Missense_Mutation_p.R376H|SLC38A1_uc009zkj.1_Missense_Mutation_p.R376H	p.R376H	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		15	1385	-	Lung SC(27;0.137)|Renal(347;0.236)		376			Cytoplasmic (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.1127G>A	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317168	0.95682	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000004	T	0.19886	0.0478	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00322	-1.1818	10	0.87932	D	0	-10.5738	19.586	0.95490	0.0:1.0:0.0:0.0	.	376;376	F8VX04;Q9H2H9	.;S38A1_HUMAN	H	376	ENSP00000449607:R376H;ENSP00000398142:R376H;ENSP00000381634:R376H;ENSP00000447853:R376H;ENSP00000449756:R376H	ENSP00000381634:R376H	R	-	2	0	SLC38A1	44878106	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.054000	0.76649	2.621000	0.88768	0.650000	0.86243	CGT		PASS	0.373	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2			16	33	16	33	---	---	---	---
AQP6	363	broad.mit.edu	37	12	50367133	50367133	+	Silent	SNP	C	C	T	rs373926524		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:50367133C>T	ENST00000315520.5	+	1	514	c.177C>T	c.(175-177)gcC>gcT	p.A59A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	59					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)	p.A59A(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TACAGATTGCCATCACCTTCA	0.637																																						uc001rvr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(175-177)GCC>GCT		aquaporin 6		C		1,4405	2.1+/-5.4	0,1,2202	138.0	123.0	128.0		177	4.9	1.0	12		128	0,8600		0,0,4300	no	coding-synonymous	AQP6	NM_001652.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		59/283	50367133	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367133C>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.177C>T	12.37:g.50367133C>T						AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	p.A59A	NM_001652	NP_001643	Q13520	AQP6_HUMAN			1	514	+			59			Helical; (Potential).			Silent	SNP	ENST00000315520.5	37	c.177C>T	CCDS31798.1																																																																																				PASS	0.637	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		17	70	17	70	---	---	---	---
POU6F1	5463	broad.mit.edu	37	12	51584140	51584140	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:51584140C>T	ENST00000389243.4	-	11	1735	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	POU6F1_ENST00000333640.10_Missense_Mutation_p.E266K|POU6F1_ENST00000550824.1_Missense_Mutation_p.E266K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	266					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E266K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TTAGCAATTTCAGTGATCTCC	0.547																																						uc001rxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)GAA>AAA		POU class 6 homeobox 1							117.0	110.0	112.0					12																	51584140		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584140C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.796G>A	12.37:g.51584140C>T	ENSP00000373895:p.Glu266Lys					POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K	p.E266K	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	988	-			266			Homeobox.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.796G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541298	0.85917	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.96522	-4.04;-4.04;-4.04	5.43	5.43	0.79202	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.046804	0.85682	D	0.000000	D	0.94162	0.8127	L	0.49640	1.575	0.80722	D	1	B	0.26363	0.147	B	0.23419	0.046	D	0.91919	0.5546	10	0.21014	T	0.42	.	18.0148	0.89236	0.0:1.0:0.0:0.0	.	266	Q14863	PO6F1_HUMAN	K	266	ENSP00000373895:E266K;ENSP00000330190:E266K;ENSP00000448389:E266K	ENSP00000330190:E266K	E	-	1	0	POU6F1	49870407	1.000000	0.71417	0.953000	0.39169	0.976000	0.68499	4.890000	0.63178	2.553000	0.86117	0.561000	0.74099	GAA		PASS	0.547	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		28	54	28	54	---	---	---	---
KRT5	3852	broad.mit.edu	37	12	52914004	52914004	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:52914004G>A	ENST00000252242.4	-	1	467	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	26	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.S26F(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGAGACAGACGGGGTGAT	0.662																																						uc001san.2																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)TCT>TTT		keratin 5							27.0	34.0	32.0					12																	52914004		2202	4300	6502	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52914004G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.77C>T	12.37:g.52914004G>A	ENSP00000252242:p.Ser26Phe					KRT5_uc009zmh.2_Missense_Mutation_p.S26F	p.S26F	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	240	-			26			Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.77C>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117607	0.37339	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000551275;ENST00000546577	T;T;T	0.75154	-0.91;-0.91;-0.11	5.83	3.98	0.46160	.	0.000000	0.53938	D	0.000043	T	0.74351	0.3705	L	0.60067	1.865	0.09310	N	1	P	0.50943	0.94	P	0.48030	0.564	T	0.67891	-0.5553	10	0.87932	D	0	.	11.2974	0.49286	0.0:0.4018:0.4727:0.1255	.	26	P13647	K2C5_HUMAN	F	26	ENSP00000252242:S26F;ENSP00000448041:S26F;ENSP00000449651:S26F	ENSP00000252242:S26F	S	-	2	0	KRT5	51200271	0.001000	0.12720	0.004000	0.12327	0.892000	0.51952	1.030000	0.30153	0.781000	0.33589	0.655000	0.94253	TCT		PASS	0.662	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			12	21	12	21	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55614955	55614955	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:55614955C>A	ENST00000326258.1	+	1	147	c.147C>A	c.(145-147)acC>acA	p.T49T		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T49T(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCACAGTTACCAGTGTGGATC	0.393																																						uc010spf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(145-147)ACC>ACA		olfactory receptor, family 10, subfamily A,							245.0	241.0	242.0					12																	55614955		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614955C>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.147C>A	12.37:g.55614955C>A							p.T49T	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	147	+			49			Cytoplasmic (Potential).		Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.147C>A	CCDS31815.1																																																																																				PASS	0.393	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			58	158	58	158	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56091005	56091005	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:56091005G>T	ENST00000555728.1	-	12	1722	c.1694C>A	c.(1693-1695)aCt>aAt	p.T565N	ITGA7_ENST00000394230.2_Missense_Mutation_p.T525N|ITGA7_ENST00000347027.6_Missense_Mutation_p.T521N|ITGA7_ENST00000257880.7_Missense_Mutation_p.T565N|ITGA7_ENST00000553804.1_Missense_Mutation_p.T525N|ITGA7_ENST00000257879.6_Missense_Mutation_p.T521N|ITGA7_ENST00000452168.2_Missense_Mutation_p.T428N|ITGA7_ENST00000394229.2_Missense_Mutation_p.T521N			Q13683	ITA7_HUMAN	integrin, alpha 7	565					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.T525N(1)|p.T521N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCACCCACAGTAGGGCTATA	0.607																																						uc001shh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1573-1575)ACT>AAT		integrin alpha 7 isoform 1 precursor							31.0	29.0	29.0					12																	56091005		2200	4299	6499	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091005G>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1694C>A	12.37:g.56091005G>T	ENSP00000452387:p.Thr565Asn					ITGA7_uc001shg.2_Missense_Mutation_p.T521N|ITGA7_uc010sps.1_Missense_Mutation_p.T428N|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.T408N	p.T525N	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			11	1794	-			565			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1574C>A		.	.	.	.	.	.	.	.	.	.	g	0.059	-1.228580	0.01518	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;1.04;0.91;0.91;0.91;0.91;0.91	4.27	-8.55	0.00908	Integrin alpha-2 (1);	1.338710	0.04956	N	0.461156	T	0.15089	0.0364	N	0.03983	-0.305	0.09310	N	1	B;B;B;B	0.21225	0.001;0.0;0.0;0.053	B;B;B;B	0.27380	0.009;0.004;0.006;0.079	T	0.15867	-1.0422	10	0.13470	T	0.59	.	4.6823	0.12741	0.1567:0.2617:0.4764:0.1052	.	428;565;525;584	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	N	525;521;521;428;565;525;521;565;565	ENSP00000452120:T525N;ENSP00000257879:T521N;ENSP00000343009:T521N;ENSP00000393844:T428N;ENSP00000257880:T565N;ENSP00000377777:T525N;ENSP00000377776:T521N;ENSP00000452387:T565N	ENSP00000257879:T521N	T	-	2	0	ITGA7	54377272	0.000000	0.05858	0.103000	0.21229	0.137000	0.21094	-0.810000	0.04505	-1.438000	0.01965	-0.376000	0.06991	ACT		PASS	0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	11	7	11	---	---	---	---
DDIT3	1649	broad.mit.edu	37	12	57910715	57910715	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:57910715C>T	ENST00000346473.3	-	4	566	c.387G>A	c.(385-387)agG>agA	p.R129R	DDIT3_ENST00000547303.1_Silent_p.R129R|DDIT3_ENST00000552740.1_Silent_p.R152R|RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Silent_p.R152R	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	129	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R129S(1)|p.R129R(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GTGCCACTTTCCTTTCATTCT	0.542			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	uc001soi.2				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	FUS/DDIT3(623)|EWSR1/DDIT3(43)	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						c.(385-387)AGG>AGA		DNA-damage-inducible transcript 3							174.0	180.0	178.0					12																	57910715		2203	4300	6503	SO:0001819	synonymous_variant	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57910715C>T	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.387G>A	12.37:g.57910715C>T						MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Silent_p.R152R|DDIT3_uc009zpt.2_Silent_p.R152R	p.R129R	NM_004083	NP_004074	P35638	DDIT3_HUMAN			4	567	-			129					F8VS99	Silent	SNP	ENST00000346473.3	37	c.387G>A	CCDS8943.1																																																																																				PASS	0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		26	92	26	92	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57966467	57966467	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:57966467G>T	ENST00000455537.2	+	15	1948	c.1674G>T	c.(1672-1674)ctG>ctT	p.L558L	KIF5A_ENST00000286452.5_Silent_p.L469L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	558					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.L558L(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						TGAAGGATCTGAGCGAGTTCA	0.552																																						uc001sor.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1672-1674)CTG>CTT		kinesin family member 5A							209.0	171.0	184.0					12																	57966467		2203	4300	6503	SO:0001819	synonymous_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.chr12:57966467G>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.1674G>T	12.37:g.57966467G>T						KIF5A_uc010srr.1_Silent_p.L469L	p.L558L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			15	1882	+			558					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1674G>T	CCDS8945.1																																																																																				PASS	0.552	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		29	80	29	80	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58111934	58111934	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:58111934G>T	ENST00000315970.7	+	11	1181	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	OS9_ENST00000435406.2_Missense_Mutation_p.K328N|OS9_ENST00000551035.1_Missense_Mutation_p.K348N|OS9_ENST00000257966.8_Missense_Mutation_p.K381N|OS9_ENST00000389142.5_Missense_Mutation_p.K380N|OS9_ENST00000413095.2_Missense_Mutation_p.K174N|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.K380N|OS9_ENST00000439210.2_Missense_Mutation_p.K321N|OS9_ENST00000552285.1_Missense_Mutation_p.K380N	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	380					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.K380N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CCCAGGGGAAGCCAAATATAG	0.557																																						uc001spj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1138-1140)AAG>AAT		osteosarcoma amplified 9, endoplasmic reticulum							68.0	67.0	67.0					12																	58111934		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58111934G>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1140G>T	12.37:g.58111934G>T	ENSP00000318165:p.Lys380Asn					OS9_uc010srx.1_Missense_Mutation_p.K174N|OS9_uc001spk.2_Missense_Mutation_p.K380N|OS9_uc001spl.2_Missense_Mutation_p.K380N|OS9_uc001spm.2_Missense_Mutation_p.K380N|OS9_uc001spn.2_Missense_Mutation_p.K381N|OS9_uc010sry.1_Missense_Mutation_p.K348N|OS9_uc010srz.1_Missense_Mutation_p.K321N	p.K380N	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	1199	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		380					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1140G>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004227	0.54254	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.4;1.1;1.1;1.1;1.1	5.54	4.58	0.56647	.	0.296880	0.41500	D	0.000871	T	0.46521	0.1397	L	0.32530	0.975	0.39194	D	0.963012	D;P;D;P;P;P;P;P	0.69078	0.958;0.944;0.997;0.835;0.799;0.745;0.611;0.954	P;P;D;P;B;B;B;P	0.67231	0.558;0.714;0.95;0.571;0.343;0.367;0.149;0.511	T	0.30851	-0.9964	10	0.33940	T	0.23	.	8.4283	0.32742	0.105:0.0:0.895:0.0	.	321;348;174;381;380;380;380;380	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	N	380;380;321;380;174;348;381;328;380	ENSP00000450010:K380N;ENSP00000318165:K380N;ENSP00000407360:K321N;ENSP00000373798:K380N;ENSP00000413112:K174N;ENSP00000447866:K348N;ENSP00000257966:K381N;ENSP00000389632:K328N;ENSP00000373794:K380N	ENSP00000257966:K381N	K	+	3	2	OS9	56398201	0.961000	0.32948	1.000000	0.80357	0.279000	0.26890	1.124000	0.31320	2.884000	0.98904	0.655000	0.94253	AAG		PASS	0.557	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		5	20	5	20	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81688782	81688782	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:81688782T>A	ENST00000549396.1	-	24	2917	c.2757A>T	c.(2755-2757)gcA>gcT	p.A919A	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Silent_p.A766A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Silent_p.A486A|PPFIA2_ENST00000443686.3_Silent_p.A820A|PPFIA2_ENST00000550584.2_Silent_p.A919A|PPFIA2_ENST00000407050.4_Silent_p.A845A|PPFIA2_ENST00000552948.1_Silent_p.A919A|PPFIA2_ENST00000549325.1_Silent_p.A904A|PPFIA2_ENST00000333447.7_Silent_p.A904A|PPFIA2_ENST00000548586.1_Silent_p.A919A|PPFIA2_ENST00000541017.1_Silent_p.A136A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	919	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.A919A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCGGCAGGCTGCCACGTACC	0.418																																						uc001szo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(2755-2757)GCA>GCT		PTPRF interacting protein alpha 2							71.0	70.0	70.0					12																	81688782		2100	4271	6371	SO:0001819	synonymous_variant	8499							g.chr12:81688782T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2757A>T	12.37:g.81688782T>A						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.A919A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2918	-			845					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.2757A>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.647|9.647	1.140415|1.140415	0.21205|0.21205	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000551147	.|.	.|.	.|.	5.62|5.62	4.45|4.45	0.53987|0.53987	.|.	.|.	.|.	.|.	.|.	T|T	0.55497|0.55497	0.1924|0.1924	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52094|0.52094	-0.8621|-0.8621	4|4	.|.	.|.	.|.	-18.7162|-18.7162	5.9558|5.9558	0.19273|0.19273	0.286:0.0:0.2404:0.4737|0.286:0.0:0.2404:0.4737	.|.	.|.	.|.	.|.	L|C	53|85	.|.	.|.	Q|S	-|-	2|1	0|0	PPFIA2|PPFIA2	80212913|80212913	0.833000|0.833000	0.29383|0.29383	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	-0.090000|-0.090000	0.11163|0.11163	0.951000|0.951000	0.37770|0.37770	-0.316000|-0.316000	0.08728|0.08728	CAG|AGC		PASS	0.418	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	17	4	17	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100433461	100433461	+	Silent	SNP	C	C	G	rs201813865		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:100433461C>G	ENST00000279907.7	-	20	4400	c.4188G>C	c.(4186-4188)acG>acC	p.T1396T	UHRF1BP1L_ENST00000545232.2_Silent_p.T1046T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1396								p.T1396T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GAGTGGCTTGCGTGACACTGC	0.458																																						uc001tgq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(4186-4188)ACG>ACC		UHRF1 (ICBP90) binding protein 1-like isoform a							117.0	97.0	104.0					12																	100433461		2203	4300	6503	SO:0001819	synonymous_variant	23074							g.chr12:100433461C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4188G>C	12.37:g.100433461C>G						UHRF1BP1L_uc001tgp.2_Silent_p.T1046T	p.T1396T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			20	4417	-			1396					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.4188G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	5.564	0.288980	0.10513	.	.	ENSG00000111647	ENST00000548712	.	.	.	5.08	1.31	0.21738	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20974	-1.0259	4	.	.	.	-16.6697	1.6523	0.02774	0.557:0.1776:0.0966:0.1689	.	.	.	.	P	157	.	.	R	-	2	0	UHRF1BP1L	98957592	0.844000	0.29557	0.988000	0.46212	0.690000	0.40134	-0.047000	0.11963	-0.021000	0.14009	-0.264000	0.10439	CGC		PASS	0.458	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		12	23	12	23	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089339	104089339	+	Silent	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:104089339A>T	ENST00000388887.2	+	32	3591	c.3387A>T	c.(3385-3387)ccA>ccT	p.P1129P		NM_017564.9	NP_060034.9			stabilin 2									p.P1129P(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCTGGTCCCACAAAGACGTC	0.468																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(3385-3387)CCA>CCT		stabilin 2 precursor							151.0	147.0	149.0					12																	104089339		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104089339A>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3387A>T	12.37:g.104089339A>T							p.P1129P	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			32	3573	+			1129			Extracellular (Potential).			Silent	SNP	ENST00000388887.2	37	c.3387A>T	CCDS31888.1																																																																																				PASS	0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			18	43	18	43	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104489180	104489180	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:104489180T>G	ENST00000229330.4	+	11	1609	c.1505T>G	c.(1504-1506)cTg>cGg	p.L502R	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	502					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.L502R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGTAGTTGCCTGGATGTAAGA	0.368																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1504-1506)CTG>CGG		host cell factor C2							118.0	110.0	113.0					12																	104489180		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104489180T>G	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1505T>G	12.37:g.104489180T>G	ENSP00000229330:p.Leu502Arg					HCFC2_uc009zul.2_RNA	p.L502R	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			11	1608	+			502					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1505T>G	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023417	0.54683	.	.	ENSG00000111727	ENST00000229330	T	0.01887	4.58	5.58	5.58	0.84498	Fibronectin, type III (2);	0.110784	0.37261	N	0.002179	T	0.04182	0.0116	N	0.22421	0.69	0.36125	D	0.84574	D	0.54964	0.969	P	0.53490	0.727	T	0.62927	-0.6750	10	0.27785	T	0.31	-4.5632	15.7331	0.77822	0.0:0.0:0.0:1.0	.	502	Q9Y5Z7	HCFC2_HUMAN	R	502	ENSP00000229330:L502R	ENSP00000229330:L502R	L	+	2	0	HCFC2	103013310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.171000	0.64996	2.123000	0.65237	0.460000	0.39030	CTG		PASS	0.368	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		11	25	11	25	---	---	---	---
SART3	9733	broad.mit.edu	37	12	108920092	108920092	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:108920092C>T	ENST00000228284.3	-	16	2388	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	SART3_ENST00000431469.2_Silent_p.P682P	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	718	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P718P(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCTTCGTGTCCGGCTCCTGCA	0.602									Porokeratosis																													uc001tmz.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2152-2154)CCG>CCA		squamous cell carcinoma antigen recognized by T							99.0	80.0	86.0					12																	108920092		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108920092C>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.2154G>A	12.37:g.108920092C>T						SART3_uc001tmy.1_Silent_p.P244P|SART3_uc009zux.1_Silent_p.P330P|SART3_uc010swx.1_Silent_p.P682P|SART3_uc010swy.1_Silent_p.P604P|SART3_uc010swz.1_Missense_Mutation_p.G717R	p.P718P	NM_014706	NP_055521	Q15020	SART3_HUMAN			16	2389	-			718			RRM 1.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.2154G>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.314119	0.01331	.	.	ENSG00000075856	ENST00000412617	.	.	.	5.81	-11.6	0.00059	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50947	-0.8767	7	0.87932	D	0	-27.7371	0.5511	0.00662	0.3742:0.1573:0.2066:0.2619	.	665	E7EMI4	.	R	665	.	ENSP00000400292:G665R	G	-	1	0	SART3	107444222	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-6.125000	0.00079	-4.093000	0.00074	-1.713000	0.00713	GGA		PASS	0.602	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			10	26	10	26	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109665238	109665238	+	Silent	SNP	G	G	T	rs373873114		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:109665238G>T	ENST00000338432.7	+	28	4064	c.3945G>T	c.(3943-3945)ccG>ccT	p.P1315P	ACACB_ENST00000377848.3_Silent_p.P1315P|ACACB_ENST00000377854.5_Silent_p.P1245P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1315					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.P1315P(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCAGCTCCCGGACGGCACCT	0.587																																						uc001tob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3943-3945)CCG>CCT		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						51.0	44.0	46.0					12																	109665238		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109665238G>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3945G>T	12.37:g.109665238G>T						ACACB_uc001toc.2_Silent_p.P1315P|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.2_5'Flank|ACACB_uc010sxm.1_5'Flank	p.P1315P	NM_001093	NP_001084	O00763	ACACB_HUMAN			28	4064	+			1315					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.3945G>T	CCDS31898.1																																																																																				PASS	0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		3	3	3	3	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116446238	116446238	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:116446238C>A	ENST00000281928.3	-	10	2186	c.1980G>T	c.(1978-1980)atG>atT	p.M660I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	660						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.M660I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AGTTTACCTCCATTTTGGCAT	0.542																																						uc001tvw.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(1978-1980)ATG>ATT		mediator complex subunit 13-like							81.0	65.0	71.0					12																	116446238		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446238C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1980G>T	12.37:g.116446238C>A	ENSP00000281928:p.Met660Ile						p.M660I	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	2035	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		660					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1980G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	9.300	1.052907	0.19907	.	.	ENSG00000123066	ENST00000281928	T	0.72942	-0.7	5.45	3.36	0.38483	.	0.305872	0.35525	N	0.003154	T	0.47525	0.1450	N	0.08118	0	0.27962	N	0.936725	B	0.02656	0.0	B	0.01281	0.0	T	0.39143	-0.9628	10	0.37606	T	0.19	.	10.3574	0.43972	0.0:0.6798:0.2399:0.0803	.	660	Q71F56	MD13L_HUMAN	I	660	ENSP00000281928:M660I	ENSP00000281928:M660I	M	-	3	0	MED13L	114930621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.506000	0.35747	2.555000	0.86185	0.563000	0.77884	ATG		PASS	0.542	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			5	33	5	33	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129467608	129467608	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:129467608G>T	ENST00000442111.2	+	12	1102	c.1014G>T	c.(1012-1014)agG>agT	p.R338S	GLT1D1_ENST00000542193.1_Missense_Mutation_p.R255S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.R258S|GLT1D1_ENST00000537468.1_Missense_Mutation_p.R343S			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	338					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R258S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AGCTCATCAGGAAGCTGGAAG	0.498																																						uc010tbh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)AGG>AGT		glycosyltransferase 1 domain containing 1							155.0	143.0	147.0					12																	129467608		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129467608G>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.1014G>T	12.37:g.129467608G>T	ENSP00000394692:p.Arg338Ser					GLT1D1_uc001uhx.1_Missense_Mutation_p.R258S|GLT1D1_uc001uhy.1_RNA	p.R343S	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	13	1038	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		338					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.1029G>T		.	.	.	.	.	.	.	.	.	.	G	2.195	-0.384354	0.04966	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	4.86	3.96	0.45880	.	1.052210	0.07360	N	0.883869	T	0.75398	0.3844	L	0.45581	1.43	0.09310	N	1	B;B	0.22211	0.066;0.065	B;B	0.19391	0.014;0.025	T	0.61744	-0.7000	10	0.40728	T	0.16	-2.0134	8.5868	0.33664	0.0:0.1674:0.6594:0.1732	.	343;258	F5H088;Q96MS3-2	.;.	S	338;258;343;255	ENSP00000394692:R338S;ENSP00000281703:R258S;ENSP00000438158:R343S;ENSP00000437500:R255S	ENSP00000281703:R258S	R	+	3	2	GLT1D1	128033561	0.200000	0.23398	0.010000	0.14722	0.008000	0.06430	1.733000	0.38156	1.155000	0.42497	0.563000	0.77884	AGG		PASS	0.498	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		39	101	39	101	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132329857	132329857	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:132329857G>T	ENST00000360564.1	+	8	1169	c.1067G>T	c.(1066-1068)cGg>cTg	p.R356L	MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.R272L	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	356					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R356L(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	TACTTCTGGCGGCTGACGCGG	0.706																																						uc001ujc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)CGG>CTG		matrix metalloproteinase 17 preproprotein							31.0	33.0	32.0					12																	132329857		2201	4299	6500	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132329857G>T	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1067G>T	12.37:g.132329857G>T	ENSP00000353767:p.Arg356Leu					MMP17_uc001ujd.1_Missense_Mutation_p.R272L	p.R356L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	8	1166	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		356			Hemopexin-like 1.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1067G>T	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113539	0.94339	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.04049	3.72;3.72;3.72	4.74	4.74	0.60224	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44982	-0.9292	10	0.87932	D	0	.	17.7511	0.88434	0.0:0.0:1.0:0.0	.	356	Q9ULZ9	MMP17_HUMAN	L	356;272;197	ENSP00000353767:R356L;ENSP00000441106:R272L;ENSP00000442104:R197L	ENSP00000353767:R356L	R	+	2	0	MMP17	130895810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.343000	0.97047	2.178000	0.69098	0.591000	0.81541	CGG		PASS	0.706	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		7	9	7	9	---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133779072	133779072	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr12:133779072A>G	ENST00000536435.2	+	6	1130	c.800A>G	c.(799-801)cAa>cGa	p.Q267R	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.Q267R|ZNF268_ENST00000537565.1_Missense_Mutation_p.Q106R|ZNF268_ENST00000541009.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	267					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q267R(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTTATGTGCCAACAAATGTAT	0.388																																						uc010tcf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(799-801)CAA>CGA		zinc finger protein 268 isoform a							32.0	34.0	33.0					12																	133779072		1964	4171	6135	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779072A>G	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.800A>G	12.37:g.133779072A>G	ENSP00000444412:p.Gln267Arg					ZNF268_uc010tbv.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbw.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbx.1_Missense_Mutation_p.Q127R|ZNF268_uc010tby.1_Missense_Mutation_p.Q106R|ZNF268_uc010tbz.1_Missense_Mutation_p.Q106R|ZNF268_uc010tca.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcb.1_Missense_Mutation_p.Q127R|ZNF268_uc010tcc.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcd.1_Missense_Mutation_p.Q106R|ZNF268_uc010tce.1_Missense_Mutation_p.Q106R|ZNF268_uc010tcg.1_Missense_Mutation_p.Q106R|ZNF268_uc010tch.1_Missense_Mutation_p.Q267R	p.Q267R	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1130	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	267					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.800A>G	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.325509	0.24080	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.09723	3.14;2.95	4.03	1.56	0.23342	.	.	.	.	.	T	0.08714	0.0216	L	0.45352	1.415	0.09310	N	1	B;B	0.16802	0.001;0.019	B;B	0.16289	0.003;0.015	T	0.37934	-0.9684	8	.	.	.	.	5.3991	0.16286	0.7253:0.1764:0.0982:0.0	.	267;106	Q14587;Q14587-2	ZN268_HUMAN;.	R	267;267;106;106	ENSP00000228289:Q267R;ENSP00000445713:Q106R	.	Q	+	2	0	ZNF268	132289145	0.074000	0.21230	0.003000	0.11579	0.007000	0.05969	1.150000	0.31639	0.205000	0.20568	0.519000	0.50382	CAA		PASS	0.388	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		7	14	7	14	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20039417	20039417	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:20039417G>A	ENST00000400230.2	-	9	698	c.654C>T	c.(652-654)gaC>gaT	p.D218D	TPTE2_ENST00000382977.4_Silent_p.D218D|TPTE2_ENST00000457266.2_Silent_p.D107D|TPTE2_ENST00000255310.6_Silent_p.D141D|TPTE2_ENST00000390680.2_Silent_p.D141D|TPTE2_ENST00000400103.2_Silent_p.D107D|TPTE2_ENST00000382978.1_Silent_p.D178D|TPTE2_ENST00000382975.4_Silent_p.D178D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	218	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.D141D(1)|p.D218D(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGAGGTCTAGGTCAAATCCAT	0.313																																						uc001umd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(652-654)GAC>GAT		TPTE and PTEN homologous inositol lipid							199.0	181.0	187.0					13																	20039417		2203	4300	6503	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039417G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.654C>T	13.37:g.20039417G>A						TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.D107D|TPTE2_uc001ume.2_Silent_p.D141D|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.D218D	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	10	865	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	218			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.654C>T	CCDS45014.1																																																																																				PASS	0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		29	114	29	114	---	---	---	---
PSPC1	55269	broad.mit.edu	37	13	20346607	20346607	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:20346607C>A	ENST00000338910.4	-	2	608	c.449G>T	c.(448-450)cGc>cTc	p.R150L		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	150	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R150L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGTAGCGAAGCGAATCCGTAG	0.458																																						uc001uml.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(448-450)CGC>CTC		paraspeckle protein 1							120.0	114.0	116.0					13																	20346607		1947	4158	6105	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20346607C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.449G>T	13.37:g.20346607C>A	ENSP00000343966:p.Arg150Leu					PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	p.R150L	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	2	635	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	150			RRM 1.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.449G>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767591	0.69878	.	.	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.06068	3.35;3.35	5.74	5.74	0.90152	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.053081	0.85682	D	0.000000	T	0.08626	0.0214	L	0.46947	1.48	0.80722	D	1	P	0.44139	0.827	B	0.35278	0.199	T	0.04481	-1.0948	10	0.72032	D	0.01	-10.0023	19.918	0.97070	0.0:1.0:0.0:0.0	.	150	Q8WXF1	PSPC1_HUMAN	L	150;90;150	ENSP00000343966:R150L;ENSP00000393069:R150L	ENSP00000343966:R150L	R	-	2	0	PSPC1	19244607	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.802000	0.85969	2.716000	0.92895	0.561000	0.74099	CGC		PASS	0.458	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			21	60	21	60	---	---	---	---
SPG20	23111	broad.mit.edu	37	13	36909559	36909559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:36909559G>A	ENST00000451493.1	-	2	626	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	SPG20_ENST00000494062.2_Nonsense_Mutation_p.Q137*|SPG20_ENST00000438666.2_Nonsense_Mutation_p.Q137*|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Nonsense_Mutation_p.Q137*	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	137					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.Q137*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCAGCATGCTGAGGAGCTGAA	0.458																																						uc001uvn.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(409-411)CAG>TAG		spartin							56.0	59.0	58.0					13																	36909559		2203	4300	6503	SO:0001587	stop_gained	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909559G>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.409C>T	13.37:g.36909559G>A	ENSP00000414147:p.Gln137*					SPG20_uc010ten.1_Nonsense_Mutation_p.Q137*|SPG20_uc001uvm.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvo.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvq.2_Nonsense_Mutation_p.Q137*|SPG20_uc001uvp.2_Nonsense_Mutation_p.Q137*	p.Q137*	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	3	679	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	137					O60349|Q86Y67|Q9H1T2|Q9H1T3	Nonsense_Mutation	SNP	ENST00000451493.1	37	c.409C>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417314	0.62622	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.51	3.63	0.41609	.	0.525183	0.21981	N	0.066315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-3.3505	17.4391	0.87561	0.0:0.25:0.75:0.0	.	.	.	.	X	137	.	ENSP00000347314:Q137X	Q	-	1	0	SPG20	35807559	0.997000	0.39634	0.615000	0.29064	0.011000	0.07611	3.177000	0.50871	1.294000	0.44707	0.650000	0.86243	CAG		PASS	0.458	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			10	22	10	22	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38145587	38145587	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:38145587G>T	ENST00000379747.4	-	18	2215	c.2098C>A	c.(2098-2100)Cta>Ata	p.L700I	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.L673I|POSTN_ENST00000379749.4_Missense_Mutation_p.L700I|POSTN_ENST00000541179.1_Missense_Mutation_p.L673I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	700					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.L700I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACTTTTGTTAGTGTGGGTCCT	0.363																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2098-2100)CTA>ATA		periostin, osteoblast specific factor isoform 1							185.0	165.0	172.0					13																	38145587		2202	4299	6501	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38145587G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2098C>A	13.37:g.38145587G>T	ENSP00000369071:p.Leu700Ile					POSTN_uc010tet.1_Missense_Mutation_p.L201I|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.L673I|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.L673I|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	p.L700I	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	18	2216	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	700					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2098C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.799449	0.00611	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.91011	-2.5;-2.47;-2.77;-2.48	4.8	2.26	0.28386	.	0.487542	0.23856	N	0.043893	T	0.77671	0.4165	N	0.12182	0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.66456	-0.5919	10	0.02654	T	1	-2.9656	11.9713	0.53065	0.0:0.0:0.2778:0.7222	.	673;673;700	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	I	673;700;700;673	ENSP00000437959:L673I;ENSP00000369073:L700I;ENSP00000369071:L700I;ENSP00000369067:L673I	ENSP00000369067:L673I	L	-	1	2	POSTN	37043587	1.000000	0.71417	0.576000	0.28549	0.297000	0.27493	0.646000	0.24797	0.361000	0.24292	-0.347000	0.07816	CTA		PASS	0.363	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		15	48	15	48	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58208897	58208897	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:58208897T>A	ENST00000377918.3	+	1	2243	c.2217T>A	c.(2215-2217)acT>acA	p.T739T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	739					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T739T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATCCGCACTTACAACTGCC	0.557																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2215-2217)ACT>ACA		protocadherin 17 precursor							78.0	73.0	75.0					13																	58208897		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208897T>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2217T>A	13.37:g.58208897T>A						PCDH17_uc010aec.1_Silent_p.T739T	p.T739T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3109	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	739			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2217T>A	CCDS31986.1																																																																																				PASS	0.557	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	34	7	34	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67799735	67799735	+	Silent	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:67799735A>T	ENST00000377865.2	-	1	2972	c.2838T>A	c.(2836-2838)ccT>ccA	p.P946P	PCDH9_ENST00000544246.1_Silent_p.P946P|PCDH9_ENST00000456367.1_Silent_p.P946P|PCDH9_ENST00000328454.5_Silent_p.P946P|PCDH9_ENST00000377861.3_Silent_p.P946P			Q9HC56	PCDH9_HUMAN	protocadherin 9	946					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P946P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATGAAAAGCAGGCTGTGGAG	0.498																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2836-2838)CCT>CCA		protocadherin 9 isoform 1 precursor							145.0	145.0	145.0					13																	67799735		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799735A>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2838T>A	13.37:g.67799735A>T						PCDH9_uc001vil.2_Silent_p.P946P|PCDH9_uc010thl.1_Silent_p.P946P|PCDH9_uc001vin.3_Silent_p.P946P	p.P946P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3530	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	946			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.2838T>A	CCDS9444.1																																																																																				PASS	0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		22	63	22	63	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77670488	77670488	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:77670488C>G	ENST00000544440.2	-	57	9816	c.9799G>C	c.(9799-9801)Gaa>Caa	p.E3267Q	MYCBP2_ENST00000482517.1_5'Flank|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3267Q|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E3305Q|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase									p.E3305Q(1)|p.E3267Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGTATTTTTCTCTACAGCGA	0.413																																						uc001vkf.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(9799-9801)GAA>CAA		MYC binding protein 2							157.0	142.0	147.0					13																	77670488		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77670488C>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9799G>C	13.37:g.77670488C>G	ENSP00000444596:p.Glu3267Gln					MYCBP2_uc010aev.2_Missense_Mutation_p.E2671Q	p.E3267Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	58	9890	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3267						Missense_Mutation	SNP	ENST00000544440.2	37	c.9799G>C		.	.	.	.	.	.	.	.	.	.	C	23.4	4.416144	0.83449	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34667	1.35;1.35;1.35	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.42245	1.32	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.54309	-0.8313	10	0.66056	D	0.02	.	19.2193	0.93790	0.0:1.0:0.0:0.0	.	3267	O75592	MYCB2_HUMAN	Q	3267;3305;3267	ENSP00000349892:E3267Q;ENSP00000384288:E3305Q;ENSP00000444596:E3267Q	ENSP00000349892:E3267Q	E	-	1	0	MYCBP2	76568489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.524000	0.85096	0.655000	0.94253	GAA		PASS	0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		22	63	22	63	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79175661	79175661	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:79175661C>A	ENST00000377208.5	-	2	1360	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	383					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.E383D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		CGGCGATCTTCTCGGACGAGG	0.612																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1147-1149)GAG>GAT		POU domain, class 4, transcription factor 1							64.0	68.0	67.0					13																	79175661		2203	4300	6503	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175661C>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1149G>T	13.37:g.79175661C>A	ENSP00000366413:p.Glu383Asp					uc001vku.1_Intron	p.E383D	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1383	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	383			Homeobox.		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.1149G>T	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942069	0.73557	.	.	ENSG00000152192	ENST00000377208	D	0.96554	-4.05	4.35	4.35	0.52113	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	U	0.000000	D	0.96352	0.8810	N	0.25485	0.75	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.97324	0.9946	10	0.62326	D	0.03	.	16.8947	0.86097	0.0:1.0:0.0:0.0	.	383	Q01851	PO4F1_HUMAN	D	383	ENSP00000366413:E383D	ENSP00000366413:E383D	E	-	3	2	POU4F1	78073662	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.629000	0.83207	2.159000	0.67721	0.499000	0.49734	GAG		PASS	0.612	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			13	35	13	35	---	---	---	---
GPR18	2841	broad.mit.edu	37	13	99907653	99907653	+	Silent	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:99907653C>G	ENST00000340807.3	-	3	1030	c.474G>C	c.(472-474)ctG>ctC	p.L158L	GPR18_ENST00000397473.2_Silent_p.L158L|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Silent_p.L158L|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	158					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L158L(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTATAGAGCAGTAGCAGAG	0.507																																						uc001voe.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)CTG>CTC		G protein-coupled receptor 18	Glycine(DB00145)						98.0	100.0	99.0					13																	99907653		2203	4300	6503	SO:0001819	synonymous_variant	2841					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907653C>G	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.474G>C	13.37:g.99907653C>G						UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Silent_p.L158L	p.L158L	NM_005292	NP_005283	Q14330	GPR18_HUMAN			3	975	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		158			Helical; Name=4; (Potential).		Q6GTM3|Q96HI6|Q9H2L2	Silent	SNP	ENST00000340807.3	37	c.474G>C	CCDS9491.1																																																																																				PASS	0.507	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			14	40	14	40	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518418	108518418	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:108518418G>A	ENST00000375915.2	-	1	665	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	176						integral component of membrane (GO:0016021)		p.A176V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCCCGAGGACGCGCCCTGGGG	0.677																																						uc001vql.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(526-528)GCG>GTG		family with sequence similarity 155, member A							30.0	37.0	35.0					13																	108518418		2190	4282	6472	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518418G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.527C>T	13.37:g.108518418G>A	ENSP00000365080:p.Ala176Val						p.A176V	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	1043	-			176					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.527C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628709	0.28978	.	.	ENSG00000204442	ENST00000375915	T	0.08193	3.12	5.45	2.67	0.31697	.	0.742527	0.12619	N	0.453214	T	0.04861	0.0131	N	0.14661	0.345	0.24619	N	0.993687	B	0.19445	0.036	B	0.11329	0.006	T	0.42032	-0.9475	10	0.35671	T	0.21	.	5.9621	0.19305	0.0711:0.2515:0.5477:0.1298	.	176	B1AL88	F155A_HUMAN	V	176	ENSP00000365080:A176V	ENSP00000365080:A176V	A	-	2	0	FAM155A	107316419	0.996000	0.38824	0.973000	0.42090	0.207000	0.24258	2.521000	0.45563	0.231000	0.21079	0.561000	0.74099	GCG		PASS	0.677	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		16	26	16	26	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111077187	111077187	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:111077187C>T	ENST00000360467.5	+	5	593	c.287C>T	c.(286-288)cCc>cTc	p.P96L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	96					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P96L(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGGAGCCCCCGGAGTAACG	0.612																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(286-288)CCC>CTC		alpha 2 type IV collagen preproprotein							90.0	99.0	96.0					13																	111077187		1942	4139	6081	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077187C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.287C>T	13.37:g.111077187C>T	ENSP00000353654:p.Pro96Leu						p.P96L	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		5	576	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	96					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.287C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	8.252	0.809279	0.16537	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.96885	-4.16;-4.09	5.08	5.08	0.68730	.	0.000000	0.50627	D	0.000107	D	0.97353	0.9134	L	0.58583	1.82	0.58432	D	0.999992	D	0.76494	0.999	D	0.70935	0.971	D	0.96573	0.9424	10	0.30078	T	0.28	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	96	P08572	CO4A2_HUMAN	L	96	ENSP00000383027:P96L;ENSP00000353654:P96L	ENSP00000257309:P96L	P	+	2	0	COL4A2	109875188	0.111000	0.22076	0.172000	0.22920	0.042000	0.13812	2.231000	0.43009	2.395000	0.81488	0.650000	0.86243	CCC		PASS	0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		11	40	11	40	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296217	20296218	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:20296217_20296218GG>TT	ENST00000315947.1	+	1	610_611	c.610_611GG>TT	c.(610-612)GGc>TTc	p.G204F	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G204F(1)|p.G204V(1)|p.G204C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCAACAGTGGCCTGATGACA	0.52																																						uc010tkv.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(610-612)GGC>TGC|c.(610-612)GGC>GTC		olfactory receptor, family 4, subfamily N,																																				SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296217G>T|g.chr14:20296218G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		Exception_encountered	14.37:g.20296217_20296218delinsTT	ENSP00000319601:p.Gly204Phe						p.G204C|p.G204V	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	610|611	+	all_cancers(95;0.00108)		204			Helical; Name=5; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.610G>T|c.611G>T	CCDS32022.1																																																																																				PASS	0.520	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			19	60|59	19	59	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483161	20483161	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:20483161C>A	ENST00000305045.2	-	1	191	c.192G>T	c.(190-192)ctG>ctT	p.L64L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L64L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTAGGTTCCCCAGCAGGAAGT	0.483																																						uc010tky.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(190-192)CTG>CTT		olfactory receptor, family 4, subfamily K,							81.0	72.0	75.0					14																	20483161		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483161C>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.192G>T	14.37:g.20483161C>A							p.L64L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	192	-	all_cancers(95;0.00108)		64			Helical; Name=2; (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.192G>T	CCDS32027.1																																																																																				PASS	0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			11	20	11	20	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21547127	21547127	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:21547127G>T	ENST00000298694.4	+	11	2458	c.2331G>T	c.(2329-2331)gtG>gtT	p.V777V	ARHGEF40_ENST00000298693.3_Silent_p.V777V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	777						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V777V(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACCTGCACGTGCAGCAGCAAG	0.632																																						uc001vzp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2329-2331)GTG>GTT		hypothetical protein LOC55701							58.0	52.0	54.0					14																	21547127		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21547127G>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2331G>T	14.37:g.21547127G>T						FLJ10357_uc001vzo.1_5'UTR|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Silent_p.V63V	p.V777V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	11	2360	+	all_cancers(95;0.00185)		777					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.2331G>T	CCDS32041.1																																																																																				PASS	0.632	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			13	10	13	10	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23873577	23873577	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:23873577G>A	ENST00000356287.3	-	7	692	c.663C>T	c.(661-663)atC>atT	p.I221I	MYH6_ENST00000405093.3_Silent_p.I221I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	221	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.I221I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGCCTGGATGATCTGGTCCT	0.612																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(661-663)ATC>ATT		myosin heavy chain 6							129.0	110.0	116.0					14																	23873577		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23873577G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.663C>T	14.37:g.23873577G>A						MYH6_uc010akp.1_Silent_p.I221I	p.I221I	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	8	730	-	all_cancers(95;2.54e-05)		221			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.663C>T	CCDS9600.1																																																																																				PASS	0.612	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			30	51	30	51	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974630	44974630	+	Missense_Mutation	SNP	C	C	A	rs374042910		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:44974630C>A	ENST00000340446.4	-	1	1852	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	521	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A521S(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)		TCAGCAGAGGCCTCTTCTGCA	0.502																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1561-1563)GCC>TCC		fibrous sheath CABYR binding protein							31.0	30.0	31.0					14																	44974630		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974630C>A	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.1561G>T	14.37:g.44974630C>A	ENSP00000344579:p.Ala521Ser						p.A521S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1870	-			521			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1561G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	7.434	0.639230	0.14386	.	.	ENSG00000189139	ENST00000340446	T	0.17854	2.25	5.55	-8.07	0.01098	.	.	.	.	.	T	0.09247	0.0228	L	0.50333	1.59	0.09310	N	1	B	0.28713	0.22	B	0.22880	0.042	T	0.31613	-0.9937	9	0.20046	T	0.44	6.4053	1.3043	0.02085	0.1801:0.2229:0.178:0.419	.	521	Q5H9T9	FSCB_HUMAN	S	521	ENSP00000344579:A521S	ENSP00000344579:A521S	A	-	1	0	FSCB	44044380	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.344000	0.01098	-1.266000	0.02446	-0.249000	0.11873	GCC		PASS	0.502	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		5	17	5	17	---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45468664	45468664	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:45468664C>G	ENST00000361577.3	+	3	2516	c.2302C>G	c.(2302-2304)Caa>Gaa	p.Q768E	FAM179B_ENST00000361462.2_Missense_Mutation_p.Q768E|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q768E|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	768								p.Q768E(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTCTGACTTACAATTCCTAGG	0.368																																						uc001wvv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(2302-2304)CAA>GAA		hypothetical protein LOC23116							99.0	97.0	97.0					14																	45468664		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45468664C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2302C>G	14.37:g.45468664C>G	ENSP00000355045:p.Gln768Glu					FAM179B_uc001wvw.2_Missense_Mutation_p.Q768E|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.Q768E	p.Q768E	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			3	2511	+			768					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2302C>G	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.408582|3.408582	0.62399|0.62399	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874|ENST00000557250	T;T;T|.	0.34472|.	2.57;2.58;1.36|.	5.32|5.32	4.41|4.41	0.53225|0.53225	Armadillo-type fold (1);|.	0.476605|.	0.20594|.	N|.	0.089294|.	T|.	0.46889|.	0.1416|.	L|L	0.27053|0.27053	0.805|0.805	0.34991|0.34991	D|D	0.754983|0.754983	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.08055|.	0.003;0.003;0.003|.	T|.	0.55717|.	-0.8097|.	10|.	0.56958|.	D|.	0.05|.	-3.7909|-3.7909	13.7811|13.7811	0.63084|0.63084	0.0:0.8459:0.1541:0.0|0.0:0.8459:0.1541:0.0	.|.	768;768;768|.	G3XAE9;Q9Y4F4;Q9Y4F4-2|.	.;F179B_HUMAN;.|.	E|X	768;768;768;768;87|61	ENSP00000355045:Q768E;ENSP00000354917:Q768E;ENSP00000371668:Q768E|.	ENSP00000354917:Q768E|.	Q|Y	+|+	1|3	0|2	FAM179B|FAM179B	44538414|44538414	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.808000|0.808000	0.45660|0.45660	3.192000|3.192000	0.50989|0.50989	1.196000|1.196000	0.43129|0.43129	0.563000|0.563000	0.77884|0.77884	CAA|TAC		PASS	0.368	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		16	26	16	26	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60072126	60072126	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:60072126C>A	ENST00000267484.5	-	5	2407	c.2072G>T	c.(2071-2073)aGg>aTg	p.R691M	RTN1_ENST00000395090.1_Missense_Mutation_p.R108M|RTN1_ENST00000342503.4_Missense_Mutation_p.R123M|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	691	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.R691M(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GAAGAGCCTCCTCAGTTCCTT	0.463																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2071-2073)AGG>ATG		reticulon 1 isoform A							105.0	90.0	95.0					14																	60072126		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60072126C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2072G>T	14.37:g.60072126C>A	ENSP00000267484:p.Arg691Met					RTN1_uc001xem.1_Missense_Mutation_p.R271M|RTN1_uc001xek.1_Missense_Mutation_p.R123M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.R108M	p.R691M	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	5	2281	-			691			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2072G>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963744	0.92791	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.51325	0.71;0.71;0.71	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79108	0.992;0.981;0.99	D	0.83602	0.0129	10	0.87932	D	0	.	19.8407	0.96681	0.0:1.0:0.0:0.0	.	108;691;123	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	M	271;691;108;123;617	ENSP00000267484:R691M;ENSP00000378525:R108M;ENSP00000340716:R123M	ENSP00000267484:R691M	R	-	2	0	RTN1	59141879	1.000000	0.71417	0.858000	0.33744	0.892000	0.51952	7.818000	0.86416	2.699000	0.92147	0.549000	0.68633	AGG		PASS	0.463	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			15	25	15	25	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60591742	60591742	+	Silent	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:60591742A>G	ENST00000406854.1	+	9	3407	c.2853A>G	c.(2851-2853)gaA>gaG	p.E951E	PCNXL4_ENST00000404681.2_Silent_p.E951E|PCNXL4_ENST00000406949.1_Silent_p.E717E|PCNXL4_ENST00000317623.4_Silent_p.E717E|PCNXL4_ENST00000535349.1_Silent_p.E158E			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	951						integral component of membrane (GO:0016021)		p.E951E(1)|p.E717E(1)									ATCATTCAGAAGAGAAGGCCT	0.358																																						uc001xer.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2149-2151)GAA>GAG		hepatitis C virus F protein-binding protein 2							103.0	105.0	104.0					14																	60591742		2203	4300	6503	SO:0001819	synonymous_variant	64430					integral to membrane		g.chr14:60591742A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2853A>G	14.37:g.60591742A>G						C14orf135_uc001xeq.2_Silent_p.E717E|C14orf135_uc010apm.2_RNA	p.E717E	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	8	2673	+		Myeloproliferative disorder(585;0.163)	951					A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.2151A>G																																																																																					PASS	0.358	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		22	38	22	38	---	---	---	---
C14orf178	283579	broad.mit.edu	37	14	78234794	78234794	+	Splice_Site	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:78234794G>T	ENST00000355883.3	+	2	283		c.e2-1		C14orf178_ENST00000556047.1_Splice_Site|C14orf178_ENST00000439131.2_Intron|C14orf178_ENST00000557011.1_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178									p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		attttttaCAGGCATGATCAA	0.303																																						uc001xug.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3-1		hypothetical protein LOC283579							94.0	99.0	97.0					14																	78234794		2203	4299	6502	SO:0001630	splice_region_variant	283579							g.chr14:78234794G>T	AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.75-1G>T	14.37:g.78234794G>T						C14orf178_uc001xuh.1_Intron	p.W25_splice	NM_174943	NP_777603	Q8N769	CN178_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	3	533	+								Q2HIX2|Q3KNR7	Splice_Site	SNP	ENST00000355883.3	37	c.75_splice	CCDS9868.1	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783194	0.02907	.	.	ENSG00000197734	ENST00000355883;ENST00000556047	.	.	.	1.65	-0.502	0.12004	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.841	0.03150	0.2269:0.0:0.4448:0.3283	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf178	77304547	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.712000	0.05013	0.010000	0.14839	-0.230000	0.12252	.		PASS	0.303	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413920.1	NM_174943	Intron	5	55	5	55	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94079210	94079210	+	Silent	SNP	C	C	T	rs149617798		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:94079210C>T	ENST00000393151.2	+	27	3822	c.3822C>T	c.(3820-3822)caC>caT	p.H1274H	UNC79_ENST00000555664.1_Silent_p.H1274H|UNC79_ENST00000553484.1_Silent_p.H1296H|UNC79_ENST00000256339.4_Silent_p.H1097H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1274					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1296H(1)|p.H1097H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGATCGACCACCAGACAGTTC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20475	0.0		0.001	False		,,,				2504	0.0					uc001ybv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3355-3357)CAC>CAT		hypothetical protein LOC57578		C		0,4406		0,0,2203	122.0	105.0	110.0		3291	4.6	1.0	14	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UNC79	NM_020818.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1097/2459	94079210	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94079210C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3822C>T	14.37:g.94079210C>T						KIAA1409_uc001ybs.1_Silent_p.H1097H	p.H1119H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	25	3440	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1274					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3357C>T																																																																																					PASS	0.522	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		25	73	25	73	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96773242	96773242	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:96773242C>T	ENST00000359933.4	-	30	5208	c.4315G>A	c.(4315-4317)Gaa>Aaa	p.E1439K	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1439					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.E1439K(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)		TGAGATTTTTCATCCAAAACA	0.408																																						uc001yfi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(4315-4317)GAA>AAA		ATG2 autophagy related 2 homolog B							45.0	44.0	44.0					14																	96773242		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96773242C>T	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.4315G>A	14.37:g.96773242C>T	ENSP00000353010:p.Glu1439Lys						p.E1439K	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	30	4680	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1439					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4315G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595701	0.66219	.	.	ENSG00000066739	ENST00000359933	T	0.52754	0.65	5.59	5.59	0.84812	.	0.177588	0.33161	N	0.005220	T	0.45397	0.1340	L	0.56769	1.78	0.80722	D	1	B	0.18166	0.026	B	0.15870	0.014	T	0.44757	-0.9307	10	0.08837	T	0.75	.	19.607	0.95585	0.0:1.0:0.0:0.0	.	1439	Q96BY7	ATG2B_HUMAN	K	1439	ENSP00000353010:E1439K	ENSP00000261834:E83K	E	-	1	0	ATG2B	95842995	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	4.985000	0.63845	2.630000	0.89119	0.514000	0.50259	GAA		PASS	0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		16	16	16	16	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408092	105408092	+	Missense_Mutation	SNP	C	C	T	rs370550153		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:105408092C>T	ENST00000333244.5	-	7	13815	c.13696G>A	c.(13696-13698)Gtg>Atg	p.V4566M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4566						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V4566M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGACGTCCACCTGGGGGCCC	0.627																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13696-13698)GTG>ATG		AHNAK nucleoprotein 2							142.0	150.0	147.0					14																	105408092		1906	4114	6020	SO:0001583	missense	113146					nucleus		g.chr14:105408092C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13696G>A	14.37:g.105408092C>T	ENSP00000353114:p.Val4566Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V4466M	p.V4566M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13816	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4566					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13696G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495754	0.44352	.	.	ENSG00000185567	ENST00000333244	T	0.01484	4.84	3.38	3.38	0.38709	.	.	.	.	.	T	0.11196	0.0273	M	0.83384	2.64	0.21841	N	0.999514	D	0.76494	0.999	D	0.79108	0.992	T	0.03121	-1.1070	9	0.51188	T	0.08	.	14.9142	0.70781	0.0:1.0:0.0:0.0	.	4566	Q8IVF2	AHNK2_HUMAN	M	4566	ENSP00000353114:V4566M	ENSP00000353114:V4566M	V	-	1	0	AHNAK2	104479137	0.000000	0.05858	0.267000	0.24556	0.468000	0.32798	-1.044000	0.03532	1.460000	0.47911	0.289000	0.19496	GTG		PASS	0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		45	145	45	145	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105408109	105408109	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:105408109T>G	ENST00000333244.5	-	7	13798	c.13679A>C	c.(13678-13680)gAc>gCc	p.D4560A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4560						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D4560A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTTGAGGTCCACTTTGGG	0.617																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13678-13680)GAC>GCC		AHNAK nucleoprotein 2							154.0	162.0	160.0					14																	105408109		1900	4109	6009	SO:0001583	missense	113146					nucleus		g.chr14:105408109T>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13679A>C	14.37:g.105408109T>G	ENSP00000353114:p.Asp4560Ala					AHNAK2_uc001ypx.2_Missense_Mutation_p.D4460A	p.D4560A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13799	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4560					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13679A>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	T	5.679	0.309826	0.10733	.	.	ENSG00000185567	ENST00000333244	T	0.02258	4.37	3.51	0.739	0.18324	.	0.207969	0.22288	U	0.062031	T	0.09069	0.0224	M	0.86953	2.85	0.09310	N	0.999993	D	0.65815	0.995	D	0.63957	0.92	T	0.11227	-1.0596	10	0.28530	T	0.3	.	6.3468	0.21353	0.0:0.0914:0.1571:0.7515	.	4560	Q8IVF2	AHNK2_HUMAN	A	4560	ENSP00000353114:D4560A	ENSP00000353114:D4560A	D	-	2	0	AHNAK2	104479154	0.492000	0.26027	0.123000	0.21794	0.236000	0.25371	1.620000	0.36976	0.362000	0.24319	0.254000	0.18369	GAC		PASS	0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		23	157	23	157	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105415986	105415986	+	Silent	SNP	G	G	A	rs374219885		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:105415986G>A	ENST00000333244.5	-	7	5921	c.5802C>T	c.(5800-5802)gaC>gaT	p.D1934D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1934						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D1934D(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.597																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(5800-5802)GAC>GAT		AHNAK nucleoprotein 2		G		0,3796		0,0,1898	126.0	138.0	134.0		5802	2.2	0.1	14		134	2,8146		1,0,4073	no	coding-synonymous	AHNAK2	NM_138420.2		1,0,5971	AA,AG,GG		0.0245,0.0,0.0167		1934/5796	105415986	2,11942	1898	4074	5972	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415986G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5802C>T	14.37:g.105415986G>A						AHNAK2_uc001ypx.2_Silent_p.D1834D	p.D1934D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5922	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1934					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5802C>T	CCDS45177.1																																																																																				PASS	0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		136	147	136	147	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416541	105416541	+	Missense_Mutation	SNP	C	C	G	rs201377031		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:105416541C>G	ENST00000333244.5	-	7	5366	c.5247G>C	c.(5245-5247)ttG>ttC	p.L1749F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1749						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L1749F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATCTTCAAACTGGGCA	0.652																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5245-5247)TTG>TTC		AHNAK nucleoprotein 2		G	PHE/LEU	12,3612		1,10,1801	92.0	104.0	101.0		5247	-5.0	0.0	14		101	0,8078		0,0,4039	no	missense	AHNAK2	NM_138420.2	22	1,10,5840	GG,GC,CC		0.0,0.3311,0.1025	possibly-damaging	1749/5796	105416541	12,11690	1812	4039	5851	SO:0001583	missense	113146					nucleus		g.chr14:105416541C>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5247G>C	14.37:g.105416541C>G	ENSP00000353114:p.Leu1749Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.L1649F	p.L1749F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5367	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1749					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5247G>C	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.766849	0.00651	0.003311	0.0	ENSG00000185567	ENST00000333244	T	0.00588	6.37	4.47	-4.96	0.03038	.	.	.	.	.	T	0.00300	0.0009	N	0.02357	-0.585	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41627	-0.9498	9	0.12766	T	0.61	-3.6873	12.8761	0.57991	0.0:0.4713:0.3441:0.1846	.	1749	Q8IVF2	AHNK2_HUMAN	F	1749	ENSP00000353114:L1749F	ENSP00000353114:L1749F	L	-	3	2	AHNAK2	104487586	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.736000	0.00801	-0.839000	0.04212	-3.508000	0.00033	TTG		PASS	0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	233	10	233	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28478864	28478864	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:28478864C>A	ENST00000261609.7	-	28	4405	c.4297G>T	c.(4297-4299)Gtg>Ttg	p.V1433L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V1433L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTCTTCCACGGGATGCTCG	0.458																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(4297-4299)GTG>TTG		hect domain and RLD 2							55.0	52.0	53.0					15																	28478864		2203	4297	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478864C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4297G>T	15.37:g.28478864C>A	ENSP00000261609:p.Val1433Leu						p.V1433L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	28	4403	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1433						Missense_Mutation	SNP	ENST00000261609.7	37	c.4297G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.112486	0.37242	.	.	ENSG00000128731	ENST00000261609	T	0.54479	0.57	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	L	0.58101	1.795	0.80722	D	1	P	0.50066	0.931	D	0.63113	0.911	T	0.66276	-0.5964	10	0.38643	T	0.18	.	17.2162	0.86945	0.0:1.0:0.0:0.0	.	1433	O95714	HERC2_HUMAN	L	1433	ENSP00000261609:V1433L	ENSP00000261609:V1433L	V	-	1	0	HERC2	26152459	1.000000	0.71417	0.997000	0.53966	0.296000	0.27459	7.317000	0.79018	2.360000	0.80028	0.550000	0.68814	GTG		PASS	0.458	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	61	15	61	---	---	---	---
GPR176	11245	broad.mit.edu	37	15	40094083	40094083	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:40094083G>A	ENST00000561100.1	-	3	1663	c.798C>T	c.(796-798)gcC>gcT	p.A266A	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000299092.3_Silent_p.A265A|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Silent_p.A221A	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	266					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A266A(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGAGCAGGGTGGCGTGCAGCT	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zkj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(796-798)GCC>GCT		G protein-coupled receptor 176							77.0	76.0	76.0					15																	40094083		2203	4300	6503	SO:0001819	synonymous_variant	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40094083G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.798C>T	15.37:g.40094083G>A			OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_uc010uck.1_Silent_p.A206A	p.A266A	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	1664	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	266			Cytoplasmic (Potential).		Q6NXF6	Silent	SNP	ENST00000561100.1	37	c.798C>T	CCDS10051.1																																																																																				PASS	0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		15	43	15	43	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42106796	42106796	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:42106796C>T	ENST00000456763.2	+	11	1243	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Silent_p.A231A|MAPKBP1_ENST00000514566.1_Silent_p.A343A|MAPKBP1_ENST00000457542.2_Silent_p.A343A	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	349								p.A343A(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACACCATTGCCTTGACCTTTG	0.498																																						uc001zok.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1045-1047)GCC>GCT		mitogen-activated protein kinase binding protein							263.0	214.0	231.0					15																	42106796		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42106796C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1047C>T	15.37:g.42106796C>T						MAPKBP1_uc001zoj.3_Silent_p.A343A|MAPKBP1_uc010bcj.2_Intron|MAPKBP1_uc010bci.2_Silent_p.A343A|MAPKBP1_uc010udb.1_Silent_p.A231A|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Intron	p.A349A	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	11	1333	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	349			WD 5.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1047C>T	CCDS45239.1																																																																																				PASS	0.498	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		31	56	31	56	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742430	42742430	+	Silent	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:42742430T>C	ENST00000263805.4	-	2	2297	c.1971A>G	c.(1969-1971)acA>acG	p.T657T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	657					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.T657T(1)									TGGCTGCAGATGTCATTTGTA	0.423																																						uc001zpw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1969-1971)ACA>ACG		zinc finger protein 106 homolog							153.0	159.0	157.0					15																	42742430		2203	4299	6502	SO:0001819	synonymous_variant	64397					nucleolus	zinc ion binding	g.chr15:42742430T>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1971A>G	15.37:g.42742430T>C						ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Silent_p.T440T|ZFP106_uc001zpy.1_Silent_p.T680T	p.T657T	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2306	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	657					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.1971A>G	CCDS32208.1																																																																																				PASS	0.423	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		32	74	32	74	---	---	---	---
SNAP23	8773	broad.mit.edu	37	15	42805639	42805639	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:42805639C>A	ENST00000249647.3	+	4	610	c.142C>A	c.(142-144)Caa>Aaa	p.Q48K	SNAP23_ENST00000349777.1_Missense_Mutation_p.Q48K|SNAP23_ENST00000564153.1_Missense_Mutation_p.Q48K|SNAP23_ENST00000397138.1_Missense_Mutation_p.Q48K|SNAP23_ENST00000567094.1_Missense_Mutation_p.Q48K	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	48	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)		p.Q48K(1)		large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GCTGGATGAACAAAAGGGTAA	0.378																																						uc001zpz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CAA>AAA		synaptosomal-associated protein 23 isoform							107.0	102.0	104.0					15																	42805639		2203	4299	6502	SO:0001583	missense	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42805639C>A	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.142C>A	15.37:g.42805639C>A	ENSP00000249647:p.Gln48Lys					SNAP23_uc001zqa.1_Missense_Mutation_p.Q48K	p.Q48K	NM_003825	NP_003816	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	4	233	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	48			t-SNARE coiled-coil homology 1.		O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	ENST00000249647.3	37	c.142C>A	CCDS10087.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939129	0.92526	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	D;D;D	0.95377	-3.69;-3.69;-3.69	5.64	4.72	0.59763	Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99572	1.0971	10	0.87932	D	0	-6.5116	14.6492	0.68784	0.0:0.9289:0.0:0.0711	.	48;48	O00161-2;O00161	.;SNP23_HUMAN	K	48	ENSP00000249647:Q48K;ENSP00000207062:Q48K;ENSP00000380327:Q48K	ENSP00000249647:Q48K	Q	+	1	0	SNAP23	40592931	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.518000	0.81795	1.511000	0.48818	0.655000	0.94253	CAA		PASS	0.378	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		15	36	15	36	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48429046	48429046	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:48429046G>A	ENST00000341459.3	+	6	830	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	SLC24A5_ENST00000449382.2_Missense_Mutation_p.E193K	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	253					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.E253K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTGGGAAGATGAAGGTCAACC	0.413																																						uc001zwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(757-759)GAA>AAA		solute carrier family 24, member 5 precursor							85.0	83.0	84.0					15																	48429046		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48429046G>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.757G>A	15.37:g.48429046G>A	ENSP00000341550:p.Glu253Lys					SLC24A5_uc010bel.2_Missense_Mutation_p.E193K|uc001zwf.1_5'Flank	p.E253K	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	6	830	+		all_lung(180;0.00217)	253			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.757G>A	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152493	0.78001	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.74632	-0.86;-0.84	5.0	5.0	0.66597	.	0.422420	0.26086	N	0.026425	T	0.67832	0.2935	L	0.55481	1.735	0.47659	D	0.999482	P;P	0.44734	0.842;0.651	B;B	0.38378	0.272;0.15	T	0.67133	-0.5747	10	0.07990	T	0.79	.	19.1842	0.93635	0.0:0.0:1.0:0.0	.	193;253	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	K	253;193	ENSP00000341550:E253K;ENSP00000389966:E193K	ENSP00000341550:E253K	E	+	1	0	SLC24A5	46216338	1.000000	0.71417	0.931000	0.37212	0.995000	0.86356	9.167000	0.94773	2.689000	0.91719	0.655000	0.94253	GAA		PASS	0.413	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		12	26	12	26	---	---	---	---
FAM227B	196951	broad.mit.edu	37	15	49833966	49833966	+	Missense_Mutation	SNP	G	G	A	rs148925050		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:49833966G>A	ENST00000299338.6	-	10	1088	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FAM227B_ENST00000561064.1_Missense_Mutation_p.T228M	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	262								p.T262M(1)									TTCATGGAACGTTGCATATAT	0.284																																						uc001zxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)ACG>ATG		hypothetical protein LOC196951		G	MET/THR	1,4391	2.1+/-5.4	0,1,2195	77.0	81.0	80.0		785	3.5	1.0	15	dbSNP_134	80	0,8580		0,0,4290	no	missense	C15orf33	NM_152647.2	81	0,1,6485	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	262/509	49833966	1,12971	2196	4290	6486	SO:0001583	missense	196951							g.chr15:49833966G>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.785C>T	15.37:g.49833966G>A	ENSP00000299338:p.Thr262Met					C15orf33_uc001zxm.2_Missense_Mutation_p.T228M	p.T262M	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	10	1079	-		all_lung(180;0.00187)	262					Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.785C>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297003	0.60086	2.28E-4	0.0	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	5.7	3.49	0.39957	.	0.351548	0.24527	N	0.037741	T	0.67116	0.2859	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	P;P	0.61003	0.882;0.804	T	0.69870	-0.5028	9	0.87932	D	0	-4.4149	9.8268	0.40916	0.246:0.0:0.754:0.0	.	228;262	Q96M60-2;Q96M60	.;CO033_HUMAN	M	262;228	.	ENSP00000299338:T262M	T	-	2	0	C15orf33	47621258	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.747000	0.47475	1.409000	0.46915	0.643000	0.83706	ACG		PASS	0.284	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		21	60	21	60	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72039276	72039276	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:72039276G>A	ENST00000355327.3	+	13	2270	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	THSD4_ENST00000261862.6_Silent_p.L712L|THSD4_ENST00000357769.4_Silent_p.L352L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	712	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.L712L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCGCAGCCTGACGGTGCAGC	0.642																																						uc002atb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2134-2136)CTG>CTA		thrombospondin, type I, domain containing 4							34.0	43.0	40.0					15																	72039276		2157	4276	6433	SO:0001819	synonymous_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039276G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2136G>A	15.37:g.72039276G>A						THSD4_uc002ate.2_Silent_p.L352L	p.L712L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			12	2215	+			712			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.2136G>A	CCDS10238.2																																																																																				PASS	0.642	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		7	12	7	12	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74554868	74554868	+	Silent	SNP	G	G	A	rs267604316		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:74554868G>A	ENST00000398814.3	+	3	704	c.273G>A	c.(271-273)ggG>ggA	p.G91G	CCDC33_ENST00000321288.5_Silent_p.G294G	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	294								p.G91G(1)|p.G294G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTATCTGGGGGGACACGGTGA	0.582																																						uc002axo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(271-273)GGG>GGA		coiled-coil domain containing 33 isoform 1							32.0	35.0	34.0					15																	74554868		2006	4154	6160	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74554868G>A	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.273G>A	15.37:g.74554868G>A							p.G91G	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			3	667	+			294			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.273G>A	CCDS42058.1																																																																																				PASS	0.582	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		11	13	11	13	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80806740	80806740	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:80806740C>A	ENST00000303329.4	+	8	1036	c.871C>A	c.(871-873)Cca>Aca	p.P291T	ARNT2_ENST00000533983.1_Missense_Mutation_p.P280T|ARNT2_ENST00000527771.1_Missense_Mutation_p.P280T	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	291					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P291T(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCCTGGCCACCAGCAGGTAA	0.478																																						uc002bfr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(871-873)CCA>ACA		aryl hydrocarbon receptor nuclear translocator							123.0	121.0	121.0					15																	80806740		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80806740C>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.871C>A	15.37:g.80806740C>A	ENSP00000307479:p.Pro291Thr					ARNT2_uc010unm.1_Missense_Mutation_p.P280T|ARNT2_uc002bfs.2_Missense_Mutation_p.P280T	p.P291T	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		8	1037	+			291					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.871C>A	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545187	0.65198	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.07114	3.22	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.79693	2.465	0.80722	D	1	D	0.56035	0.974	D	0.66716	0.946	T	0.01472	-1.1346	10	0.41790	T	0.15	.	16.9578	0.86264	0.0:1.0:0.0:0.0	.	291	Q9HBZ2	ARNT2_HUMAN	T	280;291;291	ENSP00000307479:P291T	ENSP00000307479:P291T	P	+	1	0	ARNT2	78593795	1.000000	0.71417	0.190000	0.23270	0.501000	0.33797	6.487000	0.73633	2.614000	0.88457	0.585000	0.79938	CCA		PASS	0.478	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			86	96	86	96	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83333598	83333598	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:83333598G>A	ENST00000261722.3	-	17	2276	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	AP3B2_ENST00000535359.1_Missense_Mutation_p.S709F|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.S658F	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	690	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.S689F(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTGTCTGCGGACTCCGTGGG	0.532																																						uc010uoh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(2068-2070)TCC>TTC		adaptor-related protein complex 3, beta 2							20.0	22.0	21.0					15																	83333598		1990	4177	6167	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83333598G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2069C>T	15.37:g.83333598G>A	ENSP00000261722:p.Ser690Phe					AP3B2_uc010uoi.1_Missense_Mutation_p.S709F|AP3B2_uc010uoj.1_Missense_Mutation_p.S658F|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.S326F|AP3B2_uc002biy.1_5'Flank	p.S690F	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		17	2246	-			690			Glu/Ser-rich.		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.2069C>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260872	0.80246	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	D;D;T	0.97328	-4.34;-4.34;2.12	5.44	5.44	0.79542	.	0.132506	0.56097	D	0.000040	D	0.97832	0.9288	M	0.67397	2.05	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.59221	0.854;0.854;0.854	D	0.98231	1.0483	10	0.59425	D	0.04	-15.0588	19.252	0.93929	0.0:0.0:1.0:0.0	.	658;709;690	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	F	690;658;709	ENSP00000261722:S690F;ENSP00000438721:S658F;ENSP00000440984:S709F	ENSP00000261722:S690F	S	-	2	0	AP3B2	81130653	1.000000	0.71417	0.991000	0.47740	0.713000	0.41058	9.062000	0.93920	2.557000	0.86248	0.655000	0.94253	TCC		PASS	0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			7	6	7	6	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83926867	83926867	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:83926867T>C	ENST00000345382.2	-	5	2397	c.2312A>G	c.(2311-2313)aAc>aGc	p.N771S	BNC1_ENST00000569704.1_Missense_Mutation_p.N764S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	771					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N771S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GAGGTTTAGGTTTGAGCTGTG	0.443																																						uc002bjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2311-2313)AAC>AGC		basonuclin 1							124.0	114.0	118.0					15																	83926867		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926867T>C	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2312A>G	15.37:g.83926867T>C	ENSP00000307041:p.Asn771Ser					BNC1_uc010uos.1_Missense_Mutation_p.N759S	p.N771S	NM_001717	NP_001708	Q01954	BNC1_HUMAN			5	2400	-			771			C2H2-type 4.		Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2312A>G	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115611	0.77323	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.57273	0.41	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.77103	2.36	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.77509	-0.2561	10	0.87932	D	0	-45.611	16.0213	0.80499	0.0:0.0:0.0:1.0	.	764;771	F5GY04;Q01954	.;BNC1_HUMAN	S	771;764	ENSP00000307041:N771S	ENSP00000307041:N771S	N	-	2	0	BNC1	81717871	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.914000	0.87478	2.185000	0.69588	0.460000	0.39030	AAC		PASS	0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		12	62	12	62	---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90255313	90255313	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:90255313C>A	ENST00000268130.7	+	5	719	c.618C>A	c.(616-618)gaC>gaA	p.D206E	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Missense_Mutation_p.D206E	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	206					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.D206E(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAGGAGGGGACTTTGCAGCCT	0.418																																						uc002boj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(616-618)GAC>GAA		WD repeat domain 93							78.0	78.0	78.0					15																	90255313		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90255313C>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.618C>A	15.37:g.90255313C>A	ENSP00000268130:p.Asp206Glu					WDR93_uc010bnr.2_Missense_Mutation_p.D206E	p.D206E	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		5	719	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		206					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.618C>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	9.526	1.109607	0.20714	.	.	ENSG00000140527	ENST00000268130	T	0.26518	1.73	5.34	3.18	0.36537	WD40 repeat-like-containing domain (1);	0.131321	0.48767	D	0.000170	T	0.20414	0.0491	L	0.55103	1.725	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.20767	0.021;0.031	T	0.08554	-1.0716	10	0.30078	T	0.28	-16.6196	5.3247	0.15901	0.0:0.6752:0.2105:0.1143	.	206;206	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	E	206	ENSP00000268130:D206E	ENSP00000268130:D206E	D	+	3	2	WDR93	88056317	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	0.668000	0.25127	2.487000	0.83934	0.563000	0.77884	GAC		PASS	0.418	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		13	36	13	36	---	---	---	---
SNRPA1	6627	broad.mit.edu	37	15	101832213	101832213	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:101832213G>A	ENST00000254193.6	-	3	335	c.263C>T	c.(262-264)cCc>cTc	p.P88L	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	88					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)	p.P88L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCAGACAGGGCAGAGCCTG	0.383																																						uc002bww.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(262-264)CCC>CTC		small nuclear ribonucleoprotein polypeptide A'							157.0	164.0	162.0					15																	101832213		2203	4300	6503	SO:0001583	missense	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101832213G>A	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.263C>T	15.37:g.101832213G>A	ENSP00000254193:p.Pro88Leu					SNRPA1_uc002bwx.2_Intron|SNRPA1_uc010bpc.2_Intron	p.P88L	NM_003090	NP_003081	P09661	RU2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	340	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		88					B2R5I6|Q8TBD2	Missense_Mutation	SNP	ENST00000254193.6	37	c.263C>T	CCDS10391.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838135	0.91117	.	.	ENSG00000131876	ENST00000254193	T	0.64085	-0.08	5.23	5.23	0.72850	.	0.117678	0.64402	D	0.000017	T	0.72036	0.3411	M	0.85945	2.785	0.80722	D	1	P	0.52842	0.956	P	0.45971	0.499	T	0.79422	-0.1810	10	0.72032	D	0.01	-10.3808	17.7832	0.88530	0.0:0.0:1.0:0.0	.	88	P09661	RU2A_HUMAN	L	88	ENSP00000254193:P88L	ENSP00000254193:P88L	P	-	2	0	SNRPA1	99649736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.890000	0.92477	2.424000	0.82194	0.655000	0.94253	CCC		PASS	0.383	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		54	190	54	190	---	---	---	---
TARSL2	123283	broad.mit.edu	37	15	102261405	102261405	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:102261405C>A	ENST00000335968.3	-	3	706	c.490G>T	c.(490-492)Gta>Tta	p.V164L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	164					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.V164L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCACTCTTACTGTGATGATG	0.413																																						uc002bxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(490-492)GTA>TTA		threonyl-tRNA synthetase-like 2							268.0	247.0	254.0					15																	102261405		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102261405C>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.490G>T	15.37:g.102261405C>A	ENSP00000338093:p.Val164Leu					TARSL2_uc010usi.1_RNA	p.V164L	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	545	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		164					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.490G>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	12.53	1.965699	0.34659	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.71	3.53	0.40419	TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.121069	0.56097	D	0.000038	T	0.58104	0.2099	M	0.74258	2.255	0.38000	D	0.934203	P	0.50272	0.933	P	0.55508	0.777	T	0.61412	-0.7068	9	0.30854	T	0.27	-20.1583	3.5315	0.07778	0.241:0.6031:0.0:0.1559	.	164	A2RTX5	SYTC2_HUMAN	L	164	.	ENSP00000329291:V164L	V	-	1	0	TARSL2	100078928	1.000000	0.71417	0.967000	0.41034	0.025000	0.11179	2.203000	0.42752	2.342000	0.79632	0.557000	0.71058	GTA		PASS	0.413	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		71	85	71	85	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346577	102346577	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr15:102346577A>G	ENST00000328882.4	+	1	676	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I219V(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AATCTCTTACATCTTTATTTT	0.378																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)ATC>GTC		olfactory receptor, family 4, subfamily F,							122.0	126.0	125.0					15																	102346577		2202	4300	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346577A>G	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.655A>G	15.37:g.102346577A>G	ENSP00000327525:p.Ile219Val						p.I219V	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	655	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		219			Helical; Name=5; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.655A>G	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	1.115	-0.657081	0.03480	.	.	ENSG00000184140	ENST00000328882	T	0.00023	8.99	4.64	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.248759	0.28176	N	0.016305	T	0.00109	0.0003	N	0.21194	0.64	0.26110	N	0.980692	B	0.10296	0.003	B	0.17979	0.02	T	0.06267	-1.0836	10	0.11794	T	0.64	.	12.3075	0.54910	1.0:0.0:0.0:0.0	.	219	Q8NGB9	OR4F6_HUMAN	V	219	ENSP00000327525:I219V	ENSP00000327525:I219V	I	+	1	0	OR4F6	100164100	0.000000	0.05858	0.340000	0.25575	0.065000	0.16274	-0.442000	0.06871	2.075000	0.62263	0.482000	0.46254	ATC		PASS	0.378	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			35	61	35	61	---	---	---	---
NARFL	64428	broad.mit.edu	37	16	789680	789680	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:789680C>T	ENST00000251588.2	-	2	141	c.125G>A	c.(124-126)cGc>cAc	p.R42H	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.R42H|NARFL_ENST00000568545.1_5'Flank	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	42					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.R42H(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ATCTTCAATGCGAATCTTGGC	0.537																																						uc002cjr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CGC>CAC		nuclear prelamin A recognition factor-like							230.0	193.0	205.0					16																	789680		2200	4300	6500	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:789680C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.125G>A	16.37:g.789680C>T	ENSP00000251588:p.Arg42His					NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Missense_Mutation_p.R42H|NARFL_uc010uur.1_Missense_Mutation_p.R42H	p.R42H	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			2	137	-		Hepatocellular(780;0.0218)	42					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.125G>A	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	5.272	0.235685	0.10023	.	.	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.25749	1.78;1.78	4.73	2.49	0.30216	.	0.238623	0.43260	N	0.000583	T	0.11110	0.0271	N	0.10664	0.02	0.31949	N	0.609979	B;B;B	0.27997	0.197;0.197;0.002	B;B;B	0.22880	0.042;0.042;0.001	T	0.10941	-1.0608	10	0.37606	T	0.19	-0.7334	7.7239	0.28748	0.0:0.2657:0.0:0.7343	.	42;42;42	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	H	42	ENSP00000251588:R42H;ENSP00000301694:R42H	ENSP00000251588:R42H	R	-	2	0	NARFL	729681	1.000000	0.71417	0.998000	0.56505	0.054000	0.15201	2.302000	0.43637	0.689000	0.31550	-0.482000	0.04802	CGC		PASS	0.537	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		23	55	23	55	---	---	---	---
SOX8	30812	broad.mit.edu	37	16	1034811	1034811	+	Missense_Mutation	SNP	C	C	A	rs373891598		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:1034811C>A	ENST00000293894.3	+	3	881	c.766C>A	c.(766-768)Cgc>Agc	p.R256S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	256					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R256S(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GGACAGCGGGCGCCAGAACAT	0.682																																						uc002ckn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(766-768)CGC>AGC		SRY (sex determining region Y)-box 8							30.0	28.0	29.0					16																	1034811		2198	4294	6492	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1034811C>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.766C>A	16.37:g.1034811C>A	ENSP00000293894:p.Arg256Ser						p.R256S	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	881	+		Hepatocellular(780;0.00308)	256					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.766C>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857338	0.51376	.	.	ENSG00000005513	ENST00000293894	T	0.79352	-1.26	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.82999	0.5159	M	0.90019	3.08	0.54753	D	0.999986	B	0.34349	0.45	B	0.38616	0.277	D	0.84727	0.0743	10	0.39692	T	0.17	.	15.7531	0.78001	0.0:1.0:0.0:0.0	.	256	P57073	SOX8_HUMAN	S	256	ENSP00000293894:R256S	ENSP00000293894:R256S	R	+	1	0	SOX8	974812	0.988000	0.35896	1.000000	0.80357	0.928000	0.56348	2.461000	0.45040	2.166000	0.68216	0.650000	0.86243	CGC		PASS	0.682	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			6	15	6	15	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20331786	20331786	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:20331786C>T	ENST00000381362.4	-	6	741	c.665G>A	c.(664-666)aGt>aAt	p.S222N	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.S72N|GP2_ENST00000381360.5_Missense_Mutation_p.S75N|GP2_ENST00000302555.5_Missense_Mutation_p.S219N	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	222	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S219N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGCTGCAAACTGTGGACATC	0.522																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(664-666)AGT>AAT		zymogen granule membrane glycoprotein 2 isoform							45.0	41.0	42.0					16																	20331786		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331786C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.665G>A	16.37:g.20331786C>T	ENSP00000370767:p.Ser222Asn					GP2_uc002dgw.2_Missense_Mutation_p.S219N|GP2_uc002dgx.2_Missense_Mutation_p.S75N|GP2_uc002dgy.2_Missense_Mutation_p.S72N	p.S222N	NM_001007240	NP_001007241	P55259	GP2_HUMAN			6	748	-			222			EGF-like.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.665G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679401	0.14907	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99578	-6.21;-6.21;-6.21;-6.21	5.43	-0.014	0.13982	.	.	.	.	.	D	0.99108	0.9693	L	0.49350	1.555	0.09310	N	1	B;B;D;B	0.89917	0.087;0.138;1.0;0.223	B;B;D;B	0.85130	0.091;0.074;0.997;0.068	D	0.98204	1.0469	9	0.19147	T	0.46	-8.3567	8.4613	0.32929	0.0:0.5841:0.0:0.4159	.	72;200;219;222	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	N	219;222;75;72;200	ENSP00000304044:S219N;ENSP00000370767:S222N;ENSP00000370765:S75N;ENSP00000343861:S72N	ENSP00000304044:S219N	S	-	2	0	GP2	20239287	0.017000	0.18338	0.149000	0.22428	0.102000	0.19082	0.016000	0.13377	0.023000	0.15187	-0.793000	0.03317	AGT		PASS	0.522	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		6	22	6	22	---	---	---	---
IGSF6	10261	broad.mit.edu	37	16	21655691	21655691	+	Missense_Mutation	SNP	G	G	C	rs75597368	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:21655691G>C	ENST00000268389.4	-	3	515	c.454C>G	c.(454-456)Cgg>Ggg	p.R152G	RNU6-196P_ENST00000384315.1_RNA|METTL9_ENST00000358154.3_Intron|RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	152					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.R152G(1)		endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		AGGAAGCTCCGCAGTTCCTTG	0.418																																						uc002djg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CGG>GGG		immunoglobulin superfamily, member 6 precursor							101.0	92.0	95.0					16																	21655691		2199	4300	6499	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21655691G>C	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.454C>G	16.37:g.21655691G>C	ENSP00000268389:p.Arg152Gly					uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron	p.R152G	NM_005849	NP_005840	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	3	507	-			152			Extracellular (Potential).		Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.454C>G	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	G	8.011	0.757589	0.15846	.	.	ENSG00000140749	ENST00000268389	T	0.24538	1.85	5.55	2.42	0.29668	.	1.158180	0.06257	N	0.693110	T	0.16811	0.0404	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.18871	0.023	T	0.30621	-0.9972	10	0.22109	T	0.4	-4.7227	10.1645	0.42871	0.0833:0.138:0.7787:0.0	.	152	O95976	IGSF6_HUMAN	G	152	ENSP00000268389:R152G	ENSP00000268389:R152G	R	-	1	2	IGSF6	21563192	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	1.262000	0.32992	0.699000	0.31761	-0.940000	0.02684	CGG		PASS	0.418	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			12	44	12	44	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30773976	30773976	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:30773976G>A	ENST00000543610.1	-	0	55				C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000402121.3_Missense_Mutation_p.R37H|RNF40_ENST00000357890.5_Missense_Mutation_p.R37H|RNF40_ENST00000563683.1_Missense_Mutation_p.R37H|RNF40_ENST00000324685.6_Missense_Mutation_p.R37H|C16orf93_ENST00000541260.1_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93									p.R37H(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAGCCCATTCGTCTTGGAGGC	0.597																																						uc002dzq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(109-111)CGT>CAT		ring finger protein 40							64.0	58.0	60.0					16																	30773976		2197	4300	6497			9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30773976G>A	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.-907C>T	16.37:g.30773976G>A						C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.R37H|RNF40_uc010cab.2_Missense_Mutation_p.R37H|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R37H|RNF40_uc010vfb.1_Missense_Mutation_p.R37H	p.R37H	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		2	233	+			37					A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	37	c.110G>A	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	36	5.694624	0.96793	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.34859	1.36;1.34;1.39	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.75264	2.295	0.38956	D	0.958441	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.78314	0.991;0.991;0.95;0.972	T	0.64024	-0.6504	10	0.56958	D	0.05	-11.7392	18.4386	0.90656	0.0:0.0:1.0:0.0	.	37;37;37;37	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	H	37	ENSP00000325677:R37H;ENSP00000350563:R37H;ENSP00000384942:R37H	ENSP00000325677:R37H	R	+	2	0	RNF40	30681477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.862000	0.62976	2.894000	0.99253	0.655000	0.94253	CGT		PASS	0.597	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		8	38	8	38	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31309153	31309153	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:31309153G>T	ENST00000287497.8	+	14	1660	c.1585G>T	c.(1585-1587)Gac>Tac	p.D529Y	ITGAM_ENST00000544665.3_Missense_Mutation_p.D530Y			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	529					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.D529Y(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGTGCTGGGGGACGTAAATGG	0.612																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1585-1587)GAC>TAC		integrin alpha M isoform 2 precursor							73.0	78.0	77.0					16																	31309153		2187	4293	6480	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309153G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1585G>T	16.37:g.31309153G>T	ENSP00000287497:p.Asp529Tyr					ITGAM_uc002ebr.2_Missense_Mutation_p.D530Y|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	p.D529Y	NM_000632	NP_000623	P11215	ITAM_HUMAN			14	1683	+			529			FG-GAP 6.|Extracellular (Potential).|Potential.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1585G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817212	0.70912	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.98996	-5.31;-5.31	3.76	3.76	0.43208	.	.	.	.	.	D	0.99548	0.9838	H	0.99011	4.4	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97737	1.0206	9	0.87932	D	0	.	11.2861	0.49222	0.0:0.0:1.0:0.0	.	529;529	Q4VAK1;P11215	.;ITAM_HUMAN	Y	530;529	ENSP00000441691:D530Y;ENSP00000287497:D529Y	ENSP00000287497:D529Y	D	+	1	0	ITGAM	31216654	1.000000	0.71417	0.972000	0.41901	0.920000	0.55202	5.547000	0.67249	2.090000	0.63153	0.655000	0.94253	GAC		PASS	0.612	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		26	57	26	57	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48158195	48158195	+	Splice_Site	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:48158195C>G	ENST00000311303.3	-	10	1861	c.1516G>C	c.(1516-1518)Ggg>Cgg	p.G506R	ABCC12_ENST00000416054.1_Splice_Site_p.G506R|ABCC12_ENST00000448542.1_Splice_Site_p.G506R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	506	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G506R(1)|p.G506W(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAGATCTTCCCCTGCCAGAGA	0.537																																						uc002efc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1516-1518)GGG>CGG		ATP-binding cassette protein C12							190.0	169.0	176.0					16																	48158195		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48158195C>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1516-1G>C	16.37:g.48158195C>G						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.G506R	p.G506R	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			10	1862	-		all_cancers(37;0.0474)|all_lung(18;0.047)	506			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1516G>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964034	0.92791	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.96265	-3.96;-3.96;-3.96	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	D	0.98931	1.0787	10	0.59425	D	0.04	.	18.806	0.92037	0.0:1.0:0.0:0.0	.	506;506	Q96J65-2;Q96J65	.;MRP9_HUMAN	R	506;506;448;506	ENSP00000311030:G506R;ENSP00000401855:G506R;ENSP00000413046:G506R	ENSP00000311030:G506R	G	-	1	0	ABCC12	46715696	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.058000	0.76676	2.733000	0.93635	0.650000	0.86243	GGG		PASS	0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Missense_Mutation	20	46	20	46	---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84473128	84473128	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr16:84473128G>A	ENST00000262429.4	+	13	1296	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.E403K	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	403					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.E403K(2)		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						GCTTCGTGCCGAGGTGAGTGC	0.493																																						uc002fhx.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	breast(1)|central_nervous_system(1)	2						c.(1207-1209)GAG>AAG		ATPase, Ca++ transporting, type 2C, member 2							152.0	155.0	154.0					16																	84473128		2103	4234	6337	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84473128G>A	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.1207G>A	16.37:g.84473128G>A	ENSP00000262429:p.Glu403Lys					ATP2C2_uc010chj.2_Missense_Mutation_p.E403K|ATP2C2_uc002fhy.2_Missense_Mutation_p.E420K|ATP2C2_uc002fhz.2_Missense_Mutation_p.E252K	p.E403K	NM_014861	NP_055676	O75185	AT2C2_HUMAN			13	1296	+			403			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1207G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101042	0.37048	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93712	-3.27;-3.24	4.91	3.93	0.45458	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.326457	0.25575	N	0.029730	D	0.89622	0.6768	N	0.20845	0.615	0.49798	D	0.999826	P;P;P;P	0.47762	0.9;0.724;0.879;0.9	P;B;B;P	0.48030	0.459;0.358;0.329;0.564	D	0.87937	0.2714	10	0.34782	T	0.22	.	14.0988	0.65042	0.0:0.152:0.848:0.0	.	403;252;420;403	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	K	403;403;252	ENSP00000397925:E403K;ENSP00000262429:E403K	ENSP00000262429:E403K	E	+	1	0	ATP2C2	83030629	1.000000	0.71417	0.898000	0.35279	0.062000	0.15995	8.883000	0.92426	1.005000	0.39183	0.561000	0.74099	GAG		PASS	0.493	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		36	72	36	72	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11520814	11520814	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:11520814G>T	ENST00000262442.4	+	5	1059	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	DNAH9_ENST00000454412.2_Missense_Mutation_p.V331L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	331	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.V331L(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)		ATTTCCGGAGGTGAAGCCCCA	0.602																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(991-993)GTG>TTG		dynein, axonemal, heavy chain 9 isoform 2							53.0	48.0	50.0					17																	11520814		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.chr17:11520814G>T	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.991G>T	17.37:g.11520814G>T	ENSP00000262442:p.Val331Leu						p.V331L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	5	1059	+		Breast(5;0.0122)|all_epithelial(5;0.131)	331			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.991G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	2.061	-0.415274	0.04766	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.52295	0.67;0.67	5.91	3.9	0.45041	Dynein heavy chain, domain-1 (1);	0.327233	0.28072	N	0.016708	T	0.28167	0.0695	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.10847	-1.0612	10	0.02654	T	1	.	10.6156	0.45447	0.0689:0.0:0.7978:0.1333	.	331	Q9NYC9	DYH9_HUMAN	L	331	ENSP00000262442:V331L;ENSP00000414874:V331L	ENSP00000262442:V331L	V	+	1	0	DNAH9	11461539	1.000000	0.71417	0.965000	0.40720	0.231000	0.25187	2.264000	0.43302	0.811000	0.34303	0.655000	0.94253	GTG		PASS	0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		14	19	14	19	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27818857	27818857	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:27818857C>G	ENST00000261716.3	+	10	1324	c.805C>G	c.(805-807)Cga>Gga	p.R269G	TAOK1_ENST00000536202.1_Missense_Mutation_p.R269G	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	269	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R269G(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCCTCAAGATCGACCTACATC	0.358																																						uc002hdz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(805-807)CGA>GGA		TAO kinase 1							106.0	105.0	106.0					17																	27818857		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27818857C>G	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.805C>G	17.37:g.27818857C>G	ENSP00000261716:p.Arg269Gly					TAOK1_uc010wbe.1_Missense_Mutation_p.R269G|TAOK1_uc010wbf.1_Missense_Mutation_p.R269G|TAOK1_uc002heb.1_Missense_Mutation_p.R95G	p.R269G	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		10	999	+			269			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.805C>G	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576842	0.65878	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;T	0.81996	-1.56;-0.62	5.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95146	0.8427	H	0.99752	4.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96515	0.9381	10	0.87932	D	0	.	13.3584	0.60642	0.3436:0.6564:0.0:0.0	.	269;95;269	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	G	269	ENSP00000261716:R269G;ENSP00000438819:R269G	ENSP00000261716:R269G	R	+	1	2	TAOK1	24842983	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.437000	0.44828	1.276000	0.44395	0.455000	0.32223	CGA		PASS	0.358	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		24	39	24	39	---	---	---	---
COPZ2	51226	broad.mit.edu	37	17	46109586	46109586	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:46109586T>C	ENST00000006101.4	-	7	423	c.424A>G	c.(424-426)Aag>Gag	p.K142E	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	144					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)		p.K142E(1)		lung(3)|upper_aerodigestive_tract(1)	4						AACCAGCGCTTCTCCACGTTC	0.597																																						uc002imy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)AAG>GAG		coatomer protein complex, subunit zeta 2							89.0	92.0	91.0					17																	46109586		2128	4236	6364	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46109586T>C	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.424A>G	17.37:g.46109586T>C	ENSP00000006101:p.Lys142Glu						p.K144E	NM_016429	NP_057513	Q9P299	COPZ2_HUMAN			10	443	-			144						Missense_Mutation	SNP	ENST00000006101.4	37	c.430A>G		.	.	.	.	.	.	.	.	.	.	T	7.283	0.609590	0.14066	.	.	ENSG00000005243	ENST00000006101	.	.	.	4.62	4.62	0.57501	Longin-like (1);AP complex, mu/sigma subunit (1);	0.087560	0.47093	D	0.000254	T	0.74665	0.3746	M	0.72576	2.205	0.48511	D	0.999663	D	0.63880	0.993	D	0.69824	0.966	T	0.73742	-0.3887	9	0.33940	T	0.23	-26.7673	11.6132	0.51074	0.0:0.0:0.0:1.0	.	144	Q9P299	COPZ2_HUMAN	E	142	.	ENSP00000006101:K142E	K	-	1	0	COPZ2	43464585	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	4.184000	0.58323	1.924000	0.55735	0.448000	0.29417	AAG		PASS	0.597	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		7	25	7	25	---	---	---	---
EPX	8288	broad.mit.edu	37	17	56277147	56277147	+	Missense_Mutation	SNP	T	T	C	rs550512572		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:56277147T>C	ENST00000225371.5	+	9	1639	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	510					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V510A(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGGCGGATCGTGTATGAAGGT	0.612													T|||	1	0.000199681	0.0	0.0	5008	,	,		17332	0.0		0.0	False		,,,				2504	0.001					uc002ivq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1528-1530)GTG>GCG		eosinophil peroxidase preproprotein							69.0	61.0	64.0					17																	56277147		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277147T>C	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1529T>C	17.37:g.56277147T>C	ENSP00000225371:p.Val510Ala						p.V510A	NM_000502	NP_000493	P11678	PERE_HUMAN			9	1615	+			510					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1529T>C	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531457	0.85706	.	.	ENSG00000121053	ENST00000225371	T	0.70399	-0.48	5.51	4.44	0.53790	.	0.218101	0.46758	N	0.000266	T	0.78604	0.4309	M	0.79614	2.46	0.26939	N	0.966287	D	0.54397	0.966	P	0.55577	0.779	T	0.72323	-0.4328	10	0.59425	D	0.04	-15.7982	9.8404	0.40996	0.0:0.0815:0.0:0.9185	.	510	P11678	PERE_HUMAN	A	510	ENSP00000225371:V510A	ENSP00000225371:V510A	V	+	2	0	EPX	53632146	0.512000	0.26186	0.027000	0.17364	0.403000	0.30841	4.043000	0.57354	1.037000	0.40024	0.533000	0.62120	GTG		PASS	0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		33	15	33	15	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56389036	56389036	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:56389036G>A	ENST00000343736.4	-	18	3140	c.2977C>T	c.(2977-2979)Cct>Tct	p.P993S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.P993S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P933S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	993	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.P993S(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGATCCCAGGGGAGGGCCCA	0.622																																						uc002ivx.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|skin(1)	3						c.(2977-2979)CCT>TCT		peripheral benzodiazepine receptor-associated							56.0	49.0	52.0					17																	56389036		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389036G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2977C>T	17.37:g.56389036G>A	ENSP00000345824:p.Pro993Ser					BZRAP1_uc010dcs.2_Missense_Mutation_p.P933S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P993S	p.P993S	NM_004758	NP_004749	O95153	RIMB1_HUMAN			18	3848	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		993			Fibronectin type-III 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2977C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.039029	0.35989	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.34275	1.37;1.37;1.37	5.24	3.23	0.37069	Fibronectin, type III (3);	0.107872	0.64402	N	0.000004	T	0.38268	0.1034	M	0.76838	2.35	0.58432	D	0.999991	B;P;B	0.37914	0.247;0.611;0.159	B;B;B	0.35353	0.106;0.201;0.057	T	0.45205	-0.9277	10	0.54805	T	0.06	.	11.6951	0.51538	0.1525:0.0:0.8475:0.0	.	993;933;993	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	993;993;933	ENSP00000347929:P993S;ENSP00000345824:P993S;ENSP00000268893:P933S	ENSP00000268893:P933S	P	-	1	0	BZRAP1	53744035	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	3.950000	0.56676	1.366000	0.46076	-0.391000	0.06502	CCT		PASS	0.622	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		13	32	13	32	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57754494	57754494	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:57754494C>T	ENST00000269122.3	+	17	3015	c.2741C>T	c.(2740-2742)cCa>cTa	p.P914L	CLTC_ENST00000393043.1_Missense_Mutation_p.P914L|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	914	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.P914L(2)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGAGAGATCCACATCTGGCC	0.393			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(2740-2742)CCA>CTA		clathrin heavy chain 1							114.0	112.0	113.0					17																	57754494		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57754494C>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2741C>T	17.37:g.57754494C>T	ENSP00000269122:p.Pro914Leu					CLTC_uc002ixp.2_Missense_Mutation_p.P914L|CLTC_uc002ixr.1_Missense_Mutation_p.P918L	p.P914L	NM_004859	NP_004850	Q00610	CLH1_HUMAN			17	3184	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		914			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2741C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574493	0.96553	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.10192	2.9;2.9	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.048832	0.85682	D	0.000000	T	0.46964	0.1420	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60229	-0.7304	10	0.87932	D	0	.	19.5459	0.95297	0.0:1.0:0.0:0.0	.	914;914	Q00610;Q00610-2	CLH1_HUMAN;.	L	914	ENSP00000269122:P914L;ENSP00000376763:P914L	ENSP00000269122:P914L	P	+	2	0	CLTC	55109276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.624000	0.88883	0.557000	0.71058	CCA		PASS	0.393	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		31	15	31	15	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59480532	59480532	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:59480532C>A	ENST00000240328.3	+	3	1055	c.774C>A	c.(772-774)acC>acA	p.T258T	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	258					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T248T(1)		endometrium(1)|lung(7)|ovary(1)	9						TCCCGGAGACCGACTTCATCG	0.622																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(772-774)ACC>ACA		T-box 2							108.0	87.0	94.0					17																	59480532		2203	4300	6503	SO:0001819	synonymous_variant	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59480532C>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.774C>A	17.37:g.59480532C>A						TBX2_uc002ize.2_Silent_p.T248T|TBX2_uc002izg.2_Silent_p.T104T	p.T258T	NM_005994	NP_005985	Q13207	TBX2_HUMAN			3	1055	+			258			T-box.		Q16424|Q7Z647	Silent	SNP	ENST00000240328.3	37	c.774C>A	CCDS11627.2																																																																																				PASS	0.622	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		40	21	40	21	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61897535	61897535	+	IGR	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:61897535T>C	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTTCAGCATCTGCAAAGGAAC	0.557																																						uc002jbz.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e19-1		FtsJ homolog 3							142.0	137.0	139.0					17																	61897535		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897535T>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897535T>C						FTSJ3_uc002jca.2_Splice_Site_p.M753_splice	p.M753_splice	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			19	2335	-								A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Splice_Site	SNP	ENST00000578681.1	37	c.2257_splice	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373621	0.24857	.	.	ENSG00000108592	ENST00000427159	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0009	0.53230	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FTSJ3	59251267	1.000000	0.71417	0.957000	0.39632	0.098000	0.18820	7.808000	0.86044	1.937000	0.56155	0.383000	0.25322	.		PASS	0.557	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		29	32	29	32	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62290610	62290610	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:62290610G>C	ENST00000583097.1	-	2	1140	c.968C>G	c.(967-969)tCa>tGa	p.S323*	TEX2_ENST00000584379.1_Nonsense_Mutation_p.S323*|TEX2_ENST00000258991.3_Nonsense_Mutation_p.S323*			Q8IWB9	TEX2_HUMAN	testis expressed 2	323					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.S323*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TGAAGCACTTGAAGATAAGGC	0.453																																						uc002jec.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(967-969)TCA>TGA		testis expressed sequence 2							61.0	60.0	61.0					17																	62290610		2203	4300	6503	SO:0001587	stop_gained	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290610G>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.968C>G	17.37:g.62290610G>C	ENSP00000462665:p.Ser323*					TEX2_uc002jed.2_Nonsense_Mutation_p.S323*|TEX2_uc002jee.2_Nonsense_Mutation_p.S323*	p.S323*	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1141	-			323					Q6AHZ5|Q8N3L0|Q9C0C5	Nonsense_Mutation	SNP	ENST00000583097.1	37	c.968C>G		.	.	.	.	.	.	.	.	.	.	G	38	6.650131	0.97734	.	.	ENSG00000136478	ENST00000258991	.	.	.	6.03	6.03	0.97812	.	0.197602	0.45361	D	0.000373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.1049	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000258991:S323X	S	-	2	0	TEX2	59644342	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.402000	0.97298	2.861000	0.98227	0.655000	0.94253	TCA		PASS	0.453	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		11	46	11	46	---	---	---	---
KIF19	124602	broad.mit.edu	37	17	72349680	72349681	+	Missense_Mutation	DNP	CA	CA	AG	rs539335273		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:72349680_72349681CA>AG	ENST00000389916.4	+	17	2406_2407	c.2268_2269CA>AG	c.(2266-2271)gaCAgc>gaAGgc	p.756_757DS>EG	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	756					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.D756E(1)|p.S757G(1)|p.D756_S757>EG(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTCCCCTGACAGCAGTGAGAA	0.599																																						uc002jkm.3																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(2266-2268)GAC>GAA|c.(2269-2271)AGC>GGC		kinesin family member 19																																				SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72349680C>A|g.chr17:72349681A>G	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	Exception_encountered	17.37:g.72349680_72349681delinsAG	ENSP00000374566:p.D756_S757delinsEG						p.D756E|p.S757G	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			17	2406|2407	+			756|757					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2268C>A|c.2269A>G	CCDS32718.2																																																																																				PASS	0.599	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		20|21	13|12	20	12	---	---	---	---
CCDC40	55036	broad.mit.edu	37	17	78058646	78058646	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:78058646G>A	ENST00000397545.4	+	13	2121	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L	CCDC40_ENST00000374877.3_Silent_p.L698L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	698					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.L698L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGTGGAGCTGGACCAGGACG	0.562																																						uc010dht.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2092-2094)CTG>CTA		coiled-coil domain containing 40							55.0	59.0	57.0					17																	78058646		2127	4235	6362	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78058646G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2094G>A	17.37:g.78058646G>A						CCDC40_uc002jxm.3_Silent_p.L481L|CCDC40_uc002jxn.3_Silent_p.L94L	p.L698L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		13	2121	+	all_neural(118;0.167)		698			Potential.		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.2094G>A	CCDS42395.1																																																																																				PASS	0.562	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		10	35	10	35	---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79872183	79872183	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr17:79872183C>A	ENST00000328666.6	-	7	865	c.803G>T	c.(802-804)gGg>gTg	p.G268V	PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000570388.1_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000538721.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	268	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.G268V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGCTGGACCCTAGACACAG	0.617																																						uc002kcj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GGG>GTG		sirtuin 7							78.0	68.0	71.0					17																	79872183		2203	4300	6503	SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872183C>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.803G>T	17.37:g.79872183C>A	ENSP00000329466:p.Gly268Val					PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.G119V|SIRT7_uc002kcl.1_Missense_Mutation_p.G186V	p.G268V	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	836	-	all_neural(118;0.0878)|Ovarian(332;0.12)		268			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.803G>T	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842105	0.71488	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	D	0.82803	-1.65	4.6	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96461	0.9341	10	0.87932	D	0	-26.1614	13.9796	0.64297	0.1529:0.8471:0.0:0.0	.	268;268	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	V	268;251	ENSP00000329466:G268V	ENSP00000329466:G268V	G	-	2	0	SIRT7	77465475	1.000000	0.71417	0.976000	0.42696	0.932000	0.56968	7.427000	0.80284	0.924000	0.37069	0.542000	0.68232	GGG		PASS	0.617	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		23	25	23	25	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19996144	19996144	+	5'Flank	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:19996144C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.G544V			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.G544V(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCTTGATTCTCCTCTTTCTTT	0.547																																						uc002ktv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1630-1632)GGA>GTA		cutaneous T-cell lymphoma-associated antigen 1							95.0	97.0	96.0					18																	19996144		2202	4300	6502	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996144C>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996144C>A	Exception_encountered						p.G544V	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1735	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		544					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1631G>T		.	.	.	.	.	.	.	.	.	.	C	8.135	0.784035	0.16189	.	.	ENSG00000212710	ENST00000391403	T	0.36340	1.26	0.779	0.779	0.18550	.	.	.	.	.	T	0.52773	0.1755	M	0.80183	2.485	0.26517	N	0.974495	D	0.65815	0.995	D	0.64321	0.924	T	0.37842	-0.9688	8	.	.	.	.	4.8937	0.13740	0.0:1.0:0.0:0.0	.	544	Q96RT6	CTGE2_HUMAN	V	544	ENSP00000375220:G544V	.	G	-	2	0	CTAGE1	18250142	0.995000	0.38212	0.064000	0.19789	0.026000	0.11368	1.230000	0.32612	0.697000	0.31718	0.479000	0.44913	GGA		PASS	0.547	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		16	59	16	59	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28719713	28719713	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:28719713G>T	ENST00000257198.5	-	11	1922	c.1661C>A	c.(1660-1662)gCa>gAa	p.A554E	DSC1_ENST00000257197.3_Missense_Mutation_p.A554E|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	554	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A554E(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCACTCACCTGCATCCACTGC	0.313																																						uc002kwn.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1660-1662)GCA>GAA		desmocollin 1 isoform Dsc1a preproprotein							51.0	48.0	49.0					18																	28719713		2203	4296	6499	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28719713G>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1661C>A	18.37:g.28719713G>T	ENSP00000257198:p.Ala554Glu					DSC1_uc002kwm.2_Missense_Mutation_p.A554E	p.A554E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		11	1923	-			554			Extracellular (Potential).|Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1661C>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	2.711	-0.268807	0.05716	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.50548	0.74;0.74	5.74	2.82	0.32997	Cadherin (4);Cadherin-like (1);	0.710573	0.12590	N	0.455718	T	0.36524	0.0970	L	0.38838	1.175	0.20975	N	0.999811	P;B	0.36683	0.565;0.379	B;B	0.37015	0.239;0.185	T	0.11567	-1.0582	10	0.23302	T	0.38	.	9.9627	0.41706	0.0:0.3771:0.3917:0.2312	.	554;554	Q08554;Q9HB00	DSC1_HUMAN;.	E	554	ENSP00000257197:A554E;ENSP00000257198:A554E	ENSP00000257197:A554E	A	-	2	0	DSC1	26973711	0.086000	0.21541	0.996000	0.52242	0.986000	0.74619	0.888000	0.28268	0.749000	0.32854	-0.283000	0.09986	GCA		PASS	0.313	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		5	14	5	14	---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29793520	29793520	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:29793520C>A	ENST00000269202.6	+	11	1624	c.1577C>A	c.(1576-1578)aCc>aAc	p.T526N	MEP1B_ENST00000581447.1_Missense_Mutation_p.T526N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	526	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T526N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTATGACCACCGGTTCGTAA	0.418																																						uc002kxj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1576-1578)ACC>AAC		meprin A beta precursor							64.0	59.0	61.0					18																	29793520		1886	4104	5990	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793520C>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1577C>A	18.37:g.29793520C>A	ENSP00000269202:p.Thr526Asn						p.T526N	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			11	1624	+			526			Extracellular (Potential).|MATH.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.1577C>A	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028378	0.19512	.	.	ENSG00000141434	ENST00000269202	T	0.19669	2.13	5.61	-7.22	0.01485	TRAF-type (1);TRAF-like (1);MATH (3);	1.181530	0.05771	N	0.606708	T	0.09598	0.0236	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.31052	-0.9957	10	0.34782	T	0.22	-0.1717	0.3418	0.00335	0.2704:0.2228:0.2633:0.2436	.	526	Q16820	MEP1B_HUMAN	N	526	ENSP00000269202:T526N	ENSP00000269202:T526N	T	+	2	0	MEP1B	28047518	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-0.629000	0.05508	-0.954000	0.03640	0.467000	0.42956	ACC		PASS	0.418	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		15	60	15	60	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29867260	29867260	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:29867260G>T	ENST00000269209.6	-	4	1303	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I	GAREM_ENST00000399218.4_Missense_Mutation_p.L434I|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	434					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.L434I(1)									TCTGGGAAAAGGTAGTCGCTC	0.562																																						uc002kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1300-1302)CTT>ATT		family with sequence similarity 59, member A							106.0	111.0	109.0					18																	29867260		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867260G>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1300C>A	18.37:g.29867260G>T	ENSP00000269209:p.Leu434Ile					FAM59A_uc002kxk.1_Missense_Mutation_p.L434I	p.L434I	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	1356	-			434					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1300C>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	8.555	0.876354	0.17395	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.17854	2.26;2.25	5.55	4.58	0.56647	.	0.170072	0.53938	D	0.000051	T	0.14917	0.0360	L	0.32530	0.975	0.45295	D	0.998297	B;B	0.27853	0.191;0.052	B;B	0.26310	0.045;0.068	T	0.03453	-1.1035	10	0.42905	T	0.14	-12.3752	14.323	0.66499	0.0771:0.0:0.9229:0.0	.	434;434	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	434	ENSP00000382165:L434I;ENSP00000269209:L434I	ENSP00000269209:L434I	L	-	1	0	FAM59A	28121258	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	3.226000	0.51254	1.319000	0.45190	0.561000	0.74099	CTT		PASS	0.562	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		31	75	31	75	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30873191	30873191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:30873191C>A	ENST00000383096.3	-	12	1290	c.1108G>T	c.(1108-1110)Gag>Tag	p.E370*	CCDC178_ENST00000402325.1_Nonsense_Mutation_p.E370*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.E370*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.E370*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.E370*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.E370*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.E370*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	370								p.E370*(2)									GTCACTTCCTCTTCCTTCTCC	0.289																																						uc002kxn.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(1108-1110)GAG>TAG		hypothetical protein LOC374864 isoform 1							112.0	106.0	108.0					18																	30873191		2199	4296	6495	SO:0001587	stop_gained	374864							g.chr18:30873191C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1108G>T	18.37:g.30873191C>A	ENSP00000372576:p.Glu370*					C18orf34_uc010xbr.1_Nonsense_Mutation_p.E370*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.E370*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.E370*	p.E370*	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			11	1250	-			370			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.1108G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990091	0.74589	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.6359	10.9744	0.47456	0.0:1.0:0.0:0.0	.	.	.	.	X	370	.	ENSP00000300227:E370X	E	-	1	0	C18orf34	29127189	0.165000	0.22948	0.338000	0.25549	0.053000	0.15095	0.950000	0.29122	2.279000	0.76181	0.491000	0.48974	GAG		PASS	0.289	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		5	28	5	28	---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33710009	33710009	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:33710009G>T	ENST00000358232.6	+	1	176	c.113G>T	c.(112-114)tGc>tTc	p.C38F	SLC39A6_ENST00000269187.5_5'Flank|SLC39A6_ENST00000590986.1_5'Flank|ELP2_ENST00000351393.6_Missense_Mutation_p.C38F|ELP2_ENST00000423854.2_Missense_Mutation_p.C38F|ELP2_ENST00000350494.6_Missense_Mutation_p.C38F|ELP2_ENST00000542824.1_Missense_Mutation_p.C38F|ELP2_ENST00000442325.2_Missense_Mutation_p.C38F|SLC39A6_ENST00000440549.2_5'Flank	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	38					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.C38F(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGCACGTCCTGCTCCGTGGTG	0.622																																						uc002kzk.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(112-114)TGC>TTC		elongator protein 2							68.0	65.0	66.0					18																	33710009		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33710009G>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.113G>T	18.37:g.33710009G>T	ENSP00000350967:p.Cys38Phe					SLC39A6_uc010dmy.2_5'Flank|SLC39A6_uc002kzj.2_5'Flank|ELP2_uc010xcg.1_Missense_Mutation_p.C38F|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.C38F|ELP2_uc010xch.1_Missense_Mutation_p.C38F|ELP2_uc002kzn.1_Missense_Mutation_p.C38F|ELP2_uc002kzo.1_Missense_Mutation_p.C38F	p.C38F	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			1	123	+			38			WD 1.		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.113G>T	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744686	0.69418	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.57107	2.23;0.42;1.09;2.23;2.23;0.58	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.320493	0.37761	N	0.001949	T	0.52370	0.1730	L	0.36672	1.1	0.38827	D	0.955762	B;B;P;P;P;B	0.47910	0.006;0.006;0.902;0.727;0.836;0.006	B;B;B;B;P;B	0.49085	0.01;0.005;0.445;0.408;0.6;0.004	T	0.53365	-0.8449	10	0.41790	T	0.15	-10.9157	15.1309	0.72523	0.0:0.0:1.0:0.0	.	38;38;38;38;38;38	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	F	38	ENSP00000350967:C38F;ENSP00000257191:C38F;ENSP00000414851:C38F;ENSP00000391202:C38F;ENSP00000316051:C38F;ENSP00000443800:C38F	ENSP00000316051:C38F	C	+	2	0	ELP2	31964007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.193000	0.50997	2.645000	0.89757	0.585000	0.79938	TGC		PASS	0.622	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		11	29	11	29	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50592439	50592439	+	Silent	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:50592439T>A	ENST00000442544.2	+	7	1780	c.1164T>A	c.(1162-1164)ctT>ctA	p.L388L	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Silent_p.L236L|DCC_ENST00000581580.1_Silent_p.L43L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	388	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.L388L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACGGATACTTGGGGTGGTGA	0.433																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1162-1164)CTT>CTA		netrin receptor DCC precursor							177.0	174.0	175.0					18																	50592439		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592439T>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1164T>A	18.37:g.50592439T>A						DCC_uc010xdr.1_Silent_p.L236L|DCC_uc010dpf.1_Silent_p.L43L	p.L388L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1751	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	388			Extracellular (Potential).|Ig-like C2-type 4.			Silent	SNP	ENST00000442544.2	37	c.1164T>A	CCDS11952.1																																																																																				PASS	0.433	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		26	97	26	97	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65181699	65181699	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr18:65181699A>T	ENST00000310045.7	-	2	1650	c.177T>A	c.(175-177)gaT>gaA	p.D59E	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.D59E(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGGGTCTGAAATCTTGCACTT	0.378																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(175-177)GAT>GAA		dermatan sulfate epimerase-like							119.0	110.0	113.0					18																	65181699		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181699A>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.177T>A	18.37:g.65181699A>T	ENSP00000310565:p.Asp59Glu						p.D59E	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	1401	-		Esophageal squamous(42;0.129)	49					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.177T>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.649419	0.29336	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20881	2.04	4.54	-1.17	0.09648	.	0.542019	0.16716	N	0.202459	T	0.07818	0.0196	N	0.22421	0.69	0.21325	N	0.999722	B	0.02656	0.0	B	0.04013	0.001	T	0.35151	-0.9800	10	0.02654	T	1	-9.8959	1.4069	0.02283	0.5066:0.1354:0.2273:0.1308	.	49	Q8IZU8	DSEL_HUMAN	E	59;49	ENSP00000310565:D59E	ENSP00000310565:D59E	D	-	3	2	DSEL	63332679	0.801000	0.28930	0.970000	0.41538	0.995000	0.86356	0.451000	0.21779	-0.373000	0.07979	0.459000	0.35465	GAT		PASS	0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	47	14	47	---	---	---	---
LPHN1	22859	broad.mit.edu	37	19	14273977	14273977	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:14273977C>A	ENST00000340736.6	-	6	948	c.651G>T	c.(649-651)gtG>gtT	p.V217V	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.V212V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	217	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				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.V217V(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						CATCGTAGACCACAAAGCCTG	0.602																																						uc010xnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(649-651)GTG>GTT		latrophilin 1 isoform 1 precursor							135.0	98.0	111.0					19																	14273977		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273977C>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.651G>T	19.37:g.14273977C>A						LPHN1_uc010xno.1_Silent_p.V212V|uc002myf.2_Intron	p.V217V	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			6	947	-			217			Olfactomedin-like.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.651G>T	CCDS32928.1																																																																																				PASS	0.602	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	21	4	21	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991722	21991722	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:21991722T>C	ENST00000354959.4	-	4	1286	c.1117A>G	c.(1117-1119)Aca>Gca	p.T373A	ZNF43_ENST00000595461.1_Missense_Mutation_p.T367A|ZNF43_ENST00000598381.1_Missense_Mutation_p.T367A|ZNF43_ENST00000594012.1_Missense_Mutation_p.T367A	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	373					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.T373A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCACATTCTGTACATTTATAG	0.373																																						uc002nqj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1117-1119)ACA>GCA		zinc finger protein 43							64.0	64.0	64.0					19																	21991722		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991722T>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1117A>G	19.37:g.21991722T>C	ENSP00000347045:p.Thr373Ala					ZNF43_uc010ecv.2_Missense_Mutation_p.T367A|ZNF43_uc002nql.2_Missense_Mutation_p.T367A|ZNF43_uc002nqm.2_Missense_Mutation_p.T367A|ZNF43_uc002nqk.2_Missense_Mutation_p.T303A	p.T373A	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1247	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	373			C2H2-type 8.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1117A>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	2.840	-0.240606	0.05944	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.07216	3.21	1.93	-3.86	0.04230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.17474	0.49	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.44019	-0.9355	9	0.22706	T	0.39	.	2.0871	0.03648	0.1481:0.3758:0.2991:0.177	.	373	P17038	ZNF43_HUMAN	A	372;373	ENSP00000347045:T373A	ENSP00000347045:T373A	T	-	1	0	ZNF43	21783562	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.170000	0.00573	-1.081000	0.03105	-0.534000	0.04291	ACA		PASS	0.373	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		17	32	17	32	---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30313189	30313189	+	Missense_Mutation	SNP	C	C	A	rs139792204	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:30313189C>A	ENST00000262643.3	+	10	1162	c.883C>A	c.(883-885)Cct>Act	p.P295T	CCNE1_ENST00000444983.2_Missense_Mutation_p.P280T|CCNE1_ENST00000357943.5_Missense_Mutation_p.P252T	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	295					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.P295T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCTTGAATTTCCTTATGGTAT	0.453			A		serous ovarian																																	uc002nsn.2				Dom	yes		19	19q12	898		cyclin E1			E					1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(883-885)CCT>ACT		cyclin E1 isoform 1							348.0	277.0	301.0					19																	30313189		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313189C>A	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.883C>A	19.37:g.30313189C>A	ENSP00000262643:p.Pro295Thr					CCNE1_uc002nso.2_Missense_Mutation_p.P280T|CCNE1_uc002nsp.2_Missense_Mutation_p.P42T	p.P295T	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		10	1066	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		295					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.883C>A	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	C	2.789	-0.251657	0.05867	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.17	-7.54	0.01332	Cyclin, C-terminal (1);Cyclin-like (1);	0.410142	0.32055	N	0.006654	T	0.10121	0.0248	N	0.20530	0.585	0.30375	N	0.782506	B	0.11235	0.004	B	0.13407	0.009	T	0.35798	-0.9774	10	0.12766	T	0.61	.	9.5824	0.39495	0.1027:0.4133:0.0:0.484	.	295	P24864	CCNE1_HUMAN	T	295;252;280	ENSP00000262643:P295T;ENSP00000350625:P252T;ENSP00000410179:P280T	ENSP00000262643:P295T	P	+	1	0	CCNE1	35005029	0.464000	0.25807	0.003000	0.11579	0.003000	0.03518	0.153000	0.16323	-0.773000	0.04596	-0.768000	0.03414	CCT		PASS	0.453	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		28	66	28	66	---	---	---	---
GAPDHS	26330	broad.mit.edu	37	19	36034322	36034322	+	Silent	SNP	C	C	A	rs377045019		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:36034322C>A	ENST00000222286.4	+	8	938	c.822C>A	c.(820-822)gcC>gcA	p.A274A	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000222284.5_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	274					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.A274A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCGGGGTGCCCACCAGAACA	0.587																																						uc002oaf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)GCC>GCA		glyceraldehyde-3-phosphate dehydrogenase,	NADH(DB00157)						90.0	91.0	90.0					19																	36034322		2203	4300	6503	SO:0001819	synonymous_variant	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36034322C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.822C>A	19.37:g.36034322C>A						uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank	p.A274A	NM_014364	NP_055179	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	938	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		274					B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	ENST00000222286.4	37	c.822C>A	CCDS12465.1																																																																																				PASS	0.587	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		15	40	15	40	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37880462	37880462	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:37880462G>A	ENST00000436120.2	+	5	1618	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	504					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.G504E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTAAATGTGGGAAAGCCTTC	0.393																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1510-1512)GGG>GAG		zinc finger protein 527							90.0	98.0	96.0					19																	37880462		2188	4293	6481	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880462G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1511G>A	19.37:g.37880462G>A	ENSP00000390179:p.Gly504Glu					ZNF527_uc002ogf.3_Missense_Mutation_p.G472E|ZNF527_uc010xtq.1_RNA	p.G504E	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1622	+			504			C2H2-type 9.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1511G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280738	0.59758	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	T	0.17528	2.27	3.84	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35013	N	0.003514	T	0.24044	0.0582	L	0.54863	1.705	0.80722	D	1	D;P	0.53885	0.963;0.954	P;P	0.54346	0.749;0.633	T	0.00986	-1.1490	10	0.54805	T	0.06	.	6.9829	0.24713	0.1027:0.1798:0.7175:0.0	.	504;472	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	E	504;472;452	ENSP00000390179:G452E	ENSP00000325231:G472E	G	+	2	0	ZNF527	42572302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.453000	0.44970	1.997000	0.58415	0.655000	0.94253	GGG		PASS	0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		21	65	21	65	---	---	---	---
ZNF781	163115	broad.mit.edu	37	19	38160382	38160382	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:38160382A>G	ENST00000590008.1	-	5	1520	c.668T>C	c.(667-669)aTa>aCa	p.I223T	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.I223T			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	223					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.I223T(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCTCACCAGTATGAATTCTTT	0.358																																						uc002ogy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)ATA>ACA		zinc finger protein 781							61.0	63.0	62.0					19																	38160382		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160382A>G	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.668T>C	19.37:g.38160382A>G	ENSP00000466370:p.Ile223Thr					ZNF781_uc002ogz.2_Missense_Mutation_p.I218T	p.I223T	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	1410	-			223					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.668T>C	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	A	0.833	-0.744747	0.03065	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.06294	3.32	2.47	-1.04	0.10068	.	.	.	.	.	T	0.04724	0.0128	N	0.21142	0.635	0.24333	N	0.994991	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	9	0.87932	D	0	-1.098	8.2439	0.31675	0.2901:0.0:0.7099:0.0	.	223	Q8N8C0	ZN781_HUMAN	T	223	ENSP00000351391:I223T	ENSP00000351391:I223T	I	-	2	0	ZNF781	42852222	0.500000	0.26091	0.005000	0.12908	0.002000	0.02628	0.023000	0.13533	-0.152000	0.11156	-0.425000	0.05940	ATA		PASS	0.358	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		4	44	4	44	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38572647	38572647	+	Missense_Mutation	SNP	G	G	C	rs138476311	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:38572647G>C	ENST00000222345.6	+	3	951	c.442G>C	c.(442-444)Gac>Cac	p.D148H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	148					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.D148H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGTCCAAAGACGTGGAGTT	0.657																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(442-444)GAC>CAC		signal-induced proliferation-associated 1 like							89.0	104.0	99.0					19																	38572647		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572647G>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.442G>C	19.37:g.38572647G>C	ENSP00000222345:p.Asp148His						p.D148H	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	951	+			148					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.442G>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333300	0.81801	.	.	ENSG00000105738	ENST00000222345	T	0.81078	-1.45	5.07	5.07	0.68467	.	0.143209	0.47852	D	0.000218	T	0.81706	0.4879	N	0.14661	0.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	D	0.84954	0.0873	10	0.59425	D	0.04	-18.2865	17.2042	0.86914	0.0:0.0:1.0:0.0	.	148	O60292	SI1L3_HUMAN	H	148	ENSP00000222345:D148H	ENSP00000222345:D148H	D	+	1	0	SIPA1L3	43264487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.287000	0.43505	2.356000	0.79943	0.563000	0.77884	GAC		PASS	0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		18	59	18	59	---	---	---	---
IFNL2	282616	broad.mit.edu	37	19	39760578	39760578	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:39760578C>T	ENST00000331982.5	+	6	583	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	176					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.A176A(1)									GCCTCGAGGCCTCTGTCACCT	0.627																																						uc002oku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(526-528)GCC>GCT		interleukin 28A precursor							33.0	32.0	32.0					19																	39760578		2203	4296	6499	SO:0001819	synonymous_variant	282616				response to virus	extracellular space	cytokine activity	g.chr19:39760578C>T	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.528C>T	19.37:g.39760578C>T							p.A176A	NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		6	580	+	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		176					Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.528C>T	CCDS42567.1																																																																																				PASS	0.627	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		7	10	7	10	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44096971	44096971	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:44096971C>T	ENST00000602269.1	-	2	1264	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Missense_Mutation_p.G360E			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	360	IRG-type G.|Poly-Gly.							p.G360E(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTCCAATCCCCCTCCACCTGC	0.597																																						uc002oww.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1078-1080)GGG>GAG		immunity-related GTPase family, Q							233.0	231.0	231.0					19																	44096971		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44096971C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1079G>A	19.37:g.44096971C>T	ENSP00000472250:p.Gly360Glu					IRGQ_uc010eiv.2_Missense_Mutation_p.G360E	p.G360E	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1197	-		Prostate(69;0.0199)	360			Poly-Gly.		B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1079G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.203464	0.00025	.	.	ENSG00000167378	ENST00000422989	T	0.45668	0.89	2.54	-0.896	0.10557	.	1.282420	0.05355	N	0.532520	T	0.12860	0.0312	N	0.00707	-1.245	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.14392	-1.0474	10	0.25106	T	0.35	-14.3751	3.3655	0.07202	0.0:0.391:0.2079:0.4011	.	360	Q8WZA9	IRGQ_HUMAN	E	360	ENSP00000387535:G360E	ENSP00000387535:G360E	G	-	2	0	IRGQ	48788811	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	-0.523000	0.06230	-0.084000	0.12595	0.591000	0.81541	GGG		PASS	0.597	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		36	110	36	110	---	---	---	---
TOMM40	10452	broad.mit.edu	37	19	45397079	45397079	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:45397079C>G	ENST00000426677.2	+	4	658	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V	TOMM40_ENST00000405636.2_Missense_Mutation_p.L160V|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000592434.1_Missense_Mutation_p.L160V|TOMM40_ENST00000252487.5_Missense_Mutation_p.L160V	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	160					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)	p.L160V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		CAGTGGCAGTCTCAACGCTCA	0.612																																						uc002ozx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CTC>GTC		translocase of outer mitochondrial membrane 40							74.0	62.0	66.0					19																	45397079		2203	4300	6503	SO:0001583	missense	10452				protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45397079C>G	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.478C>G	19.37:g.45397079C>G	ENSP00000410339:p.Leu160Val					TOMM40_uc002ozy.3_Missense_Mutation_p.L160V|TOMM40_uc002paa.3_Missense_Mutation_p.L160V|TOMM40_uc002ozz.2_Missense_Mutation_p.L160V	p.L160V	NM_006114	NP_006105	O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	5	579	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		160					Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Missense_Mutation	SNP	ENST00000426677.2	37	c.478C>G	CCDS12646.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344256	0.82022	.	.	ENSG00000130204	ENST00000426677;ENST00000405636;ENST00000252487	T;T;T	0.51817	0.69;0.69;0.69	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.63307	0.2500	M	0.74389	2.26	0.58432	D	0.999999	P;P	0.46395	0.851;0.877	P;P	0.55667	0.623;0.781	T	0.67300	-0.5705	10	0.54805	T	0.06	-15.405	14.8885	0.70587	0.0:1.0:0.0:0.0	.	160;160	O96008-2;O96008	.;TOM40_HUMAN	V	160	ENSP00000410339:L160V;ENSP00000385184:L160V;ENSP00000252487:L160V	ENSP00000252487:L160V	L	+	1	0	TOMM40	50088919	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.086000	0.62901	0.561000	0.74099	CTC		PASS	0.612	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1			7	25	7	25	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45888902	45888902	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:45888902G>A	ENST00000418234.2	-	11	2244	c.2166C>T	c.(2164-2166)acC>acT	p.T722T	PPP1R13L_ENST00000360957.5_Silent_p.T722T	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	722					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T722T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCTGAGCGTGGTGGCGAAGA	0.667																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2164-2166)ACC>ACT		protein phosphatase 1, regulatory subunit 13							52.0	43.0	46.0					19																	45888902		2201	4298	6499	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888902G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2166C>T	19.37:g.45888902G>A						PPP1R13L_uc002pbm.2_Silent_p.T301T|PPP1R13L_uc002pbo.2_Silent_p.T722T	p.T722T	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2243	-		all_neural(266;0.224)|Ovarian(192;0.231)	722			ANK 2.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2166C>T	CCDS33050.1																																																																																				PASS	0.667	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		4	16	4	16	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48734082	48734082	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:48734082C>G	ENST00000359009.4	-	5	721	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	CARD8_ENST00000520753.1_Missense_Mutation_p.E242Q|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.E192Q|CARD8_ENST00000520153.1_Missense_Mutation_p.E192Q|CARD8_ENST00000519940.1_Missense_Mutation_p.E242Q|CARD8_ENST00000520015.1_Missense_Mutation_p.E242Q|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000447740.2_Missense_Mutation_p.E192Q|CARD8_ENST00000391898.3_Missense_Mutation_p.E242Q			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	137					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.E137Q(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ACAGCCTCCTCTGGCTCTGCA	0.632																																						uc002pie.3																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GAG>CAG		caspase recruitment domain family, member 8							40.0	40.0	40.0					19																	48734082		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48734082C>G	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.409G>C	19.37:g.48734082C>G	ENSP00000351901:p.Glu137Gln					CARD8_uc002pii.3_Missense_Mutation_p.E242Q|CARD8_uc010xzi.1_Missense_Mutation_p.E137Q|CARD8_uc010els.2_Missense_Mutation_p.E175Q|CARD8_uc010xzj.1_Missense_Mutation_p.E242Q|CARD8_uc010xzk.1_Missense_Mutation_p.E161Q|CARD8_uc002pif.3_Missense_Mutation_p.E137Q|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.E192Q|CARD8_uc010xzl.1_Missense_Mutation_p.E192Q|CARD8_uc010xzm.1_Missense_Mutation_p.E242Q	p.E137Q	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	5	722	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	137					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.409G>C		.	.	.	.	.	.	.	.	.	.	C	7.617	0.675955	0.14841	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.14640	2.74;2.72;2.75;2.49;2.74;2.49;2.74;2.72	1.6	1.6	0.23607	.	.	.	.	.	T	0.21387	0.0515	L	0.47716	1.5	0.09310	N	1	D;D;D;D;D;D;D;D	0.62365	0.991;0.982;0.982;0.982;0.978;0.957;0.988;0.974	P;P;P;P;P;P;P;P	0.62560	0.904;0.816;0.816;0.816;0.719;0.579;0.844;0.842	T	0.12863	-1.0531	9	0.25106	T	0.35	.	6.6688	0.23056	0.0:1.0:0.0:0.0	.	161;242;242;175;242;192;137;137	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	Q	192;242;137;242;192;242;192;242	ENSP00000391248:E192Q;ENSP00000375767:E242Q;ENSP00000351901:E137Q;ENSP00000429839:E242Q;ENSP00000428736:E192Q;ENSP00000430747:E242Q;ENSP00000427858:E192Q;ENSP00000428883:E242Q	ENSP00000351901:E137Q	E	-	1	0	CARD8	53425894	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.456000	0.06754	1.193000	0.43086	0.655000	0.94253	GAG		PASS	0.632	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		14	44	14	44	---	---	---	---
SIGLEC11	114132	broad.mit.edu	37	19	50462101	50462101	+	Missense_Mutation	SNP	G	G	T	rs145434757	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:50462101G>T	ENST00000447370.2	-	7	1252	c.1162C>A	c.(1162-1164)Cgc>Agc	p.R388S	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R388S|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	388	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R376S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGACCAGGCGCAGGCTTTGG	0.677																																						uc010ybh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1162-1164)CGC>AGC		sialic acid binding Ig-like lectin 11 isoform 1							30.0	35.0	33.0					19																	50462101		2202	4300	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462101G>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1162C>A	19.37:g.50462101G>T	ENSP00000412361:p.Arg388Ser					SIGLEC11_uc010ybi.1_Missense_Mutation_p.R388S	p.R388S	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1253	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	388			Ig-like C2-type 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000447370.2	37	c.1162C>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.920177|2.920177	0.52653|0.52653	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.20463	.|2.07	3.24|3.24	-0.73|-0.73	0.11154|0.11154	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|0.990820	.|0.08208	.|N	.|0.981218	.|T	.|0.31979	.|0.0814	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	.|D;D	.|0.64830	.|0.994;0.983	.|D;D	.|0.64776	.|0.917;0.929	.|T	.|0.35151	.|-0.9800	.|10	.|0.09084	.|T	.|0.74	.|.	4.0417|4.0417	0.09755|0.09755	0.1257:0.0:0.4682:0.4061|0.1257:0.0:0.4682:0.4061	.|.	.|388;388	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	X|S	377|388	.|ENSP00000412361:R388S	.|ENSP00000412361:R388S	C|R	-|-	3|1	2|0	SIGLEC11|SIGLEC11	55153913|55153913	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.589000|0.589000	0.36550|0.36550	0.404000|0.404000	0.20999|0.20999	-0.157000|-0.157000	0.11059|0.11059	0.556000|0.556000	0.70494|0.70494	TGC|CGC		PASS	0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		12	18	12	18	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549003	50549003	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:50549003G>C	ENST00000595661.1	+	6	1798	c.1303G>C	c.(1303-1305)Gag>Cag	p.E435Q	ZNF473_ENST00000391821.2_Missense_Mutation_p.E435Q|ZNF473_ENST00000270617.3_Missense_Mutation_p.E435Q|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.E423Q			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	435	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E435Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAAATGCAGTGAGTGTGGGAA	0.483																																						uc002prn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1303-1305)GAG>CAG		zinc finger protein 473							79.0	74.0	76.0					19																	50549003		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549003G>C	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1303G>C	19.37:g.50549003G>C	ENSP00000472808:p.Glu435Gln					ZNF473_uc002prm.2_Missense_Mutation_p.E435Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E423Q	p.E435Q	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1540	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	435			C2H2-type 7.|Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1303G>C	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715492	0.48622	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.18502	2.21;2.21;2.21	4.31	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.327283	0.22048	N	0.065350	T	0.13628	0.0330	L	0.39147	1.195	0.09310	N	1	B	0.22146	0.065	B	0.28232	0.087	T	0.21245	-1.0251	10	0.33141	T	0.24	-8.633	7.8712	0.29567	0.0932:0.1643:0.7425:0.0	.	435	Q8WTR7	ZN473_HUMAN	Q	435;435;423	ENSP00000270617:E435Q;ENSP00000375697:E435Q;ENSP00000388961:E423Q	ENSP00000270617:E435Q	E	+	1	0	ZNF473	55240815	0.000000	0.05858	0.006000	0.13384	0.978000	0.69477	0.230000	0.17852	0.736000	0.32559	0.655000	0.94253	GAG		PASS	0.483	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		37	50	37	50	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549375	50549375	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:50549375G>C	ENST00000595661.1	+	6	2170	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	ZNF473_ENST00000391821.2_Missense_Mutation_p.E559Q|ZNF473_ENST00000270617.3_Missense_Mutation_p.E559Q|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.E547Q			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	559					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E559Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAACAGAAAGAGAAGTGCTT	0.458																																						uc002prn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1675-1677)GAG>CAG		zinc finger protein 473							55.0	56.0	55.0					19																	50549375		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549375G>C	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1675G>C	19.37:g.50549375G>C	ENSP00000472808:p.Glu559Gln					ZNF473_uc002prm.2_Missense_Mutation_p.E559Q|ZNF473_uc010ybo.1_Missense_Mutation_p.E547Q	p.E559Q	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1912	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	559					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1675G>C	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920043	0.17982	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.08193	3.12;3.12;3.12	4.0	2.97	0.34412	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.167217	0.28600	N	0.014779	T	0.17619	0.0423	M	0.68728	2.09	0.18873	N	0.999982	D	0.64830	0.994	P	0.54544	0.755	T	0.02365	-1.1170	10	0.56958	D	0.05	-16.9532	10.1289	0.42667	0.1014:0.0:0.8986:0.0	.	559	Q8WTR7	ZN473_HUMAN	Q	559;559;547	ENSP00000270617:E559Q;ENSP00000375697:E559Q;ENSP00000388961:E547Q	ENSP00000270617:E559Q	E	+	1	0	ZNF473	55241187	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.152000	0.10159	1.272000	0.44329	0.543000	0.68304	GAG		PASS	0.458	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		27	26	27	26	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51200905	51200905	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:51200905C>T	ENST00000293441.1	-	13	1896	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	SHANK1_ENST00000391814.1_Silent_p.K626K|SHANK1_ENST00000359082.3_Silent_p.K626K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	626					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.K626K(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCTCTTTGCCTTGTCACTGC	0.547																																						uc002psx.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(1876-1878)AAG>AAA		SH3 and multiple ankyrin repeat domains 1							128.0	126.0	127.0					19																	51200905		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200905C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1878G>A	19.37:g.51200905C>T							p.K626K	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	13	1897	-		all_neural(266;0.057)	626					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.1878G>A	CCDS12799.1																																																																																				PASS	0.547	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		22	96	22	96	---	---	---	---
CD33	945	broad.mit.edu	37	19	51729094	51729094	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:51729094A>T	ENST00000262262.4	+	3	475	c.454A>T	c.(454-456)Act>Tct	p.T152S	CD33_ENST00000436584.2_Missense_Mutation_p.T25S|CD33_ENST00000421133.2_Missense_Mutation_p.T25S|CD33_ENST00000391796.3_Missense_Mutation_p.T152S	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	152	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|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)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T152S(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CATCCCTGGCACTCTAGAACC	0.587																																						uc002pwa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)ACT>TCT		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						76.0	84.0	81.0					19																	51729094		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729094A>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.454A>T	19.37:g.51729094A>T	ENSP00000262262:p.Thr152Ser					CD33_uc010eos.1_Missense_Mutation_p.T152S|CD33_uc010eot.1_Missense_Mutation_p.T25S|CD33_uc010eou.1_RNA	p.T152S	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	3	494	+		all_neural(266;0.0199)	152			Extracellular (Potential).|Ig-like C2-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.454A>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	3.212	-0.161341	0.06502	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.03386	3.95;3.95;3.95;3.95	2.99	-0.873	0.10635	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.490245	0.15067	U	0.282441	T	0.07908	0.0198	M	0.90252	3.1	0.09310	N	1	B;B;B	0.21520	0.015;0.057;0.015	B;B;B	0.31442	0.061;0.13;0.028	T	0.31336	-0.9947	10	0.45353	T	0.12	.	3.314	0.07026	0.5576:0.0:0.2618:0.1806	.	25;152;152	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	S	25;152;25;152	ENSP00000403331:T25S;ENSP00000262262:T152S;ENSP00000410126:T25S;ENSP00000375673:T152S	ENSP00000262262:T152S	T	+	1	0	CD33	56420906	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.399000	0.01050	-0.843000	0.04189	-1.212000	0.01626	ACT		PASS	0.587	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		61	69	61	69	---	---	---	---
SIGLECL1	284369	broad.mit.edu	37	19	51769043	51769043	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:51769043T>C	ENST00000316401.7	+	4	698	c.317T>C	c.(316-318)tTg>tCg	p.L106S	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L12S|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	468	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L106S(1)									AAGAGTTCTTTGGCTGCCCAG	0.537																																						uc002pwb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(316-318)TTG>TCG		hypothetical protein LOC284369							252.0	238.0	243.0					19																	51769043		2203	4300	6503	SO:0001583	missense	284369					integral to membrane		g.chr19:51769043T>C	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.317T>C	19.37:g.51769043T>C	ENSP00000321249:p.Leu106Ser					C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.L12S	p.L106S	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			4	698	+			106					Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.317T>C	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	T	8.744	0.919681	0.17982	.	.	ENSG00000179213	ENST00000316401	D	0.94092	-3.35	4.28	0.774	0.18521	.	0.644651	0.11979	N	0.510970	D	0.91583	0.7341	L	0.35793	1.09	0.09310	N	1	D;B	0.76494	0.999;0.23	D;B	0.65443	0.935;0.039	T	0.81848	-0.0744	10	0.10377	T	0.69	.	4.9358	0.13939	0.0:0.1029:0.3655:0.5315	.	12;106	B7ZLS6;Q8N7X8	.;CS075_HUMAN	S	106	ENSP00000321249:L106S	ENSP00000321249:L106S	L	+	2	0	C19orf75	56460855	0.000000	0.05858	0.004000	0.12327	0.156000	0.22039	-0.563000	0.05943	0.174000	0.19809	0.528000	0.53228	TTG		PASS	0.537	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		46	215	46	215	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770038	53770038	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:53770038C>A	ENST00000311170.4	-	1	934	c.881G>T	c.(880-882)aGg>aTg	p.R294M	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	294					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.R294M(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AAAACAAAACCTGTATACACT	0.393										HNSCC(26;0.072)																												uc010ydu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(880-882)AGG>ATG		vomeronasal 1 receptor 4							70.0	68.0	69.0					19																	53770038		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770038C>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.881G>T	19.37:g.53770038C>A	ENSP00000310856:p.Arg294Met	HNSCC(26;0.072)					p.R294M	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	881	-			294			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.881G>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751751	0.31046	.	.	ENSG00000228567	ENST00000311170	T	0.39997	1.05	2.96	-2.44	0.06502	.	1.046680	0.07639	N	0.929980	T	0.46521	0.1397	L	0.48877	1.53	0.09310	N	1	D	0.53745	0.962	P	0.61328	0.887	T	0.42207	-0.9465	10	0.51188	T	0.08	.	3.0001	0.06011	0.1623:0.4095:0.3196:0.1086	.	294	Q7Z5H5	VN1R4_HUMAN	M	294	ENSP00000310856:R294M	ENSP00000310856:R294M	R	-	2	0	VN1R4	58461850	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.096000	0.11059	-0.183000	0.10585	-0.232000	0.12228	AGG		PASS	0.393	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		9	86	9	86	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55349311	55349311	+	Intron	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:55349311T>C	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P117P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGTGACCCTCTGGACATGG	0.507																																						uc002qhm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)CCT>CCC		killer cell immunoglobulin-like receptor, two							306.0	264.0	278.0					19																	55349311		2175	4196	6371	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55349311T>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+12778T>C	19.37:g.55349311T>C						KIR2DS4_uc010yfj.1_Silent_p.P110P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P117P|KIR2DS4_uc002qhn.1_Silent_p.P64P	p.P117P	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	397	+			117			Extracellular (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000402254.2	37	c.351T>C																																																																																					PASS	0.507	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		11	379	11	379	---	---	---	---
TMEM150B	284417	broad.mit.edu	37	19	55832413	55832413	+	Splice_Site	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:55832413C>G	ENST00000438693.1	-	3	165		c.e3-1		TMEM150B_ENST00000326652.4_5'UTR	NM_001085488.1	NP_001078957.1	A6NC51	T150B_HUMAN	transmembrane protein 150B							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						ATGCCGGGCTCTGCAGGTGAA	0.597																																						uc010esw.1																			0					0						c.e3-1		transmembrane protein 150B precursor							41.0	43.0	42.0					19																	55832413		2063	4197	6260	SO:0001630	splice_region_variant	284417					integral to membrane		g.chr19:55832413C>G	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000438693.1:c.8-1G>C	19.37:g.55832413C>G						TMEM150B_uc010yfu.1_5'UTR|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_Splice_Site|TMEM150B_uc002qki.2_5'UTR		NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			3	166	-								B7ZW71	Splice_Site	SNP	ENST00000438693.1	37	c.-7_splice	CCDS42629.1																																																																																				PASS	0.597	TMEM150B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488	Intron	14	16	14	16	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369842	56369842	+	Silent	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:56369842G>T	ENST00000301295.6	+	3	1505	c.1083G>T	c.(1081-1083)ctG>ctT	p.L361L	NLRP4_ENST00000346986.5_Silent_p.L361L|NLRP4_ENST00000587891.1_Silent_p.L286L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	361	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L361L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAAGACCTGGCCCTGACCT	0.532																																						uc002qmd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1081-1083)CTG>CTT		NLR family, pyrin domain containing 4							52.0	45.0	47.0					19																	56369842		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369842G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1083G>T	19.37:g.56369842G>T						NLRP4_uc002qmf.2_Silent_p.L286L|NLRP4_uc010etf.2_Silent_p.L192L	p.L361L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1505	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	361			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1083G>T	CCDS12936.1																																																																																				PASS	0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		27	30	27	30	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152141	58152141	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:58152141A>C	ENST00000347302.3	+	3	466	c.287A>C	c.(286-288)cAg>cCg	p.Q96P	ZNF211_ENST00000420680.1_Missense_Mutation_p.Q100P|ZNF211_ENST00000254182.7_Missense_Mutation_p.Q87P|ZNF211_ENST00000544273.1_Missense_Mutation_p.Q108P|ZNF211_ENST00000299871.5_Missense_Mutation_p.Q161P|ZNF211_ENST00000541801.1_Missense_Mutation_p.Q87P|ZNF211_ENST00000391703.3_Missense_Mutation_p.Q35P|ZNF211_ENST00000240731.4_Missense_Mutation_p.Q109P	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	96	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q109P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGTGCCACAGTTCAGGACT	0.433																																						uc002qpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(286-288)CAG>CCG		zinc finger protein 211 isoform 2							101.0	102.0	101.0					19																	58152141		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152141A>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.287A>C	19.37:g.58152141A>C	ENSP00000339562:p.Gln96Pro					ZNF211_uc010yhb.1_Missense_Mutation_p.Q100P|ZNF211_uc002qpp.2_Missense_Mutation_p.Q109P|ZNF211_uc002qpr.2_Missense_Mutation_p.Q160P|ZNF211_uc002qps.2_Missense_Mutation_p.Q161P|ZNF211_uc002qpt.2_Missense_Mutation_p.Q108P|ZNF211_uc010yhc.1_Missense_Mutation_p.Q108P|ZNF211_uc010yhd.1_Missense_Mutation_p.Q35P|ZNF211_uc010yhe.1_Missense_Mutation_p.Q87P	p.Q96P	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	467	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	96			KRAB.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.287A>C	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.594539	0.46214	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.10382	3.14;3.17;2.88;3.03;2.88;3.09;3.16;3.15	3.39	-0.0538	0.13816	Krueppel-associated box (1);	.	.	.	.	T	0.12347	0.0300	L	0.33339	1.005	0.09310	N	1	D;D;D;B;D;D	0.65815	0.983;0.983;0.995;0.022;0.971;0.971	P;P;P;B;P;P	0.53649	0.731;0.731;0.656;0.023;0.543;0.543	T	0.18999	-1.0319	9	0.72032	D	0.01	.	4.4982	0.11851	0.6375:0.1674:0.195:0.0	.	100;108;161;87;96;109	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	P	100;96;87;35;87;161;108;109	ENSP00000399193:Q100P;ENSP00000339562:Q96P;ENSP00000254182:Q87P;ENSP00000375584:Q35P;ENSP00000442601:Q87P;ENSP00000299871:Q161P;ENSP00000441386:Q108P;ENSP00000240731:Q109P	ENSP00000240731:Q109P	Q	+	2	0	ZNF211	62843953	0.000000	0.05858	0.000000	0.03702	0.333000	0.28666	0.005000	0.13129	-0.191000	0.10448	0.482000	0.46254	CAG		PASS	0.433	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			9	38	9	38	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58153536	58153536	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:58153536G>T	ENST00000347302.3	+	3	1861	c.1682G>T	c.(1681-1683)gGa>gTa	p.G561V	ZNF211_ENST00000420680.1_Missense_Mutation_p.G565V|ZNF211_ENST00000254182.7_Missense_Mutation_p.G552V|ZNF211_ENST00000544273.1_Missense_Mutation_p.G573V|ZNF211_ENST00000299871.5_Missense_Mutation_p.G626V|ZNF211_ENST00000541801.1_Missense_Mutation_p.G552V|ZNF211_ENST00000391703.3_Missense_Mutation_p.G500V|ZNF211_ENST00000240731.4_Missense_Mutation_p.G574V	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	561					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.G574V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTCACATTGGAGAAAAGCCT	0.433																																						uc002qpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1681-1683)GGA>GTA		zinc finger protein 211 isoform 2							97.0	98.0	97.0					19																	58153536		2203	4299	6502	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58153536G>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1682G>T	19.37:g.58153536G>T	ENSP00000339562:p.Gly561Val					ZNF211_uc010yhb.1_Missense_Mutation_p.G565V|ZNF211_uc002qpp.2_Missense_Mutation_p.G574V|ZNF211_uc002qpr.2_Missense_Mutation_p.G625V|ZNF211_uc002qps.2_Missense_Mutation_p.G626V|ZNF211_uc002qpt.2_Missense_Mutation_p.G573V|ZNF211_uc010yhc.1_Missense_Mutation_p.G573V|ZNF211_uc010yhd.1_Missense_Mutation_p.G500V|ZNF211_uc010yhe.1_Missense_Mutation_p.G552V	p.G561V	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1862	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	561					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.1682G>T	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.45|17.45	3.391888|3.391888	0.62066|0.62066	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.08546|.	3.18;3.2;3.08;3.1;3.08;3.19;3.19;3.19|.	2.95|2.95	2.95|2.95	0.34219|0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.79251|0.79251	0.4414|0.4414	M|M	0.89658|0.89658	3.05|3.05	0.46376|0.46376	D|D	0.99901|0.99901	D;D;P;D;D;D|.	0.89917|.	0.998;0.995;0.884;1.0;0.992;0.992|.	P;P;P;D;P;P|.	0.97110|.	0.841;0.841;0.449;1.0;0.698;0.698|.	D|D	0.83716|0.83716	0.0190|0.0190	9|5	0.54805|.	T|.	0.06|.	.|.	13.0788|13.0788	0.59100|0.59100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	565;573;626;552;561;574|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	V|C	565;561;552;500;552;626;573;574|564	ENSP00000399193:G565V;ENSP00000339562:G561V;ENSP00000254182:G552V;ENSP00000375584:G500V;ENSP00000442601:G552V;ENSP00000299871:G626V;ENSP00000441386:G573V;ENSP00000240731:G574V|.	ENSP00000240731:G574V|.	G|W	+|+	2|3	0|0	ZNF211|ZNF211	62845348|62845348	0.002000|0.002000	0.14202|0.14202	0.039000|0.039000	0.18376|0.18376	0.320000|0.320000	0.28249|0.28249	0.696000|0.696000	0.25541|0.25541	1.652000|1.652000	0.50683|0.50683	0.585000|0.585000	0.79938|0.79938	GGA|TGG		PASS	0.433	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			33	120	33	120	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	C	T	rs141591921	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:58579130C>T	ENST00000313434.5	+	5	1379	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Silent_p.T438T|ZNF135_ENST00000506786.1_Silent_p.T384T|ZNF135_ENST00000401053.4_Silent_p.T450T|ZNF135_ENST00000439855.2_Silent_p.T426T|ZNF135_ENST00000359978.6_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	426					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21290	0.0		0.0	False		,,,				2504	0.001					uc010yhq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1312-1314)ACC>ACT		zinc finger protein 135 isoform 2		C	,,,	0,4406		0,0,2203	71.0	71.0	71.0		,,1314,1350	-6.2	0.0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,intron,coding-synonymous,coding-synonymous	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,438/671,450/683	58579130	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579130C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1278C>T	19.37:g.58579130C>T						ZNF135_uc002qre.2_Silent_p.T426T|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.T384T|ZNF135_uc002qrg.2_Silent_p.T396T|ZNF135_uc010yhr.1_Silent_p.T247T	p.T438T	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1410	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	438					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	ENST00000313434.5	37	c.1314C>T		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248508	0.00271	0.0	1.16E-4	ENSG00000176293	ENST00000391699	.	.	.	3.1	-6.2	0.02072	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.05852	-1.0860	4	.	.	.	.	3.6953	0.08361	0.1913:0.1646:0.4813:0.1628	.	.	.	.	L	444	.	.	P	+	2	0	ZNF135	63270942	0.000000	0.05858	0.047000	0.18901	0.003000	0.03518	-9.557000	0.00010	-5.416000	0.00015	-3.537000	0.00031	CCG		PASS	0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		24	59	24	59	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	896599	896599	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:896599C>G	ENST00000381922.3	-	1	361	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V87L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	87					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.V87L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCTGTTTCACCTGCTGGGTG	0.637																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(259-261)GTG>CTG		angiopoietin 4 precursor							121.0	100.0	107.0					20																	896599		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896599C>G	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.259G>C	20.37:g.896599C>G	ENSP00000371347:p.Val87Leu					ANGPT4_uc010zpn.1_Missense_Mutation_p.V81L	p.V87L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			1	362	-			87			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.259G>C	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.418008	0.00188	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.12569	2.67;2.67	4.52	0.432	0.16529	.	1.085110	0.07150	N	0.848931	T	0.06234	0.0161	N	0.13299	0.325	0.09310	N	1	B;B	0.25719	0.132;0.051	B;B	0.17098	0.017;0.01	T	0.34477	-0.9827	10	0.02654	T	1	.	6.6223	0.22810	0.0:0.593:0.0:0.407	.	87;87	B4E3J9;Q9Y264	.;ANGP4_HUMAN	L	87	ENSP00000371347:V87L;ENSP00000439605:V87L	ENSP00000371347:V87L	V	-	1	0	ANGPT4	844599	0.266000	0.24112	0.001000	0.08648	0.003000	0.03518	-0.235000	0.09016	-0.045000	0.13468	0.484000	0.47621	GTG		PASS	0.637	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		15	59	15	59	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1552435	1552435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:1552435C>A	ENST00000381605.4	-	3	746	c.682G>T	c.(682-684)Gag>Tag	p.E228*	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	228	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E228*(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGGGCTATCTCGCAGATGACT	0.607																																						uc010gai.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(682-684)GAG>TAG		signal-regulatory protein beta 1 isoform 1							146.0	128.0	134.0					20																	1552435		2203	4300	6503	SO:0001587	stop_gained	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552435C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.682G>T	20.37:g.1552435C>A	ENSP00000371018:p.Glu228*					SIRPB1_uc002wfk.3_Intron	p.E228*	NM_006065	NP_006056	O00241	SIRB1_HUMAN			3	781	-			228			Ig-like C1-type 1.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Nonsense_Mutation	SNP	ENST00000381605.4	37	c.682G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.816100	0.50527	.	.	ENSG00000101307	ENST00000381605	.	.	.	2.47	1.49	0.22878	.	0.307826	0.28057	N	0.016763	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.2441	0.15487	0.0:0.8241:0.0:0.1759	.	.	.	.	X	228	.	ENSP00000371018:E228X	E	-	1	0	SIRPB1	1500435	0.241000	0.23857	0.998000	0.56505	0.041000	0.13682	0.293000	0.19029	0.381000	0.24851	0.456000	0.33151	GAG		PASS	0.607	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		20	59	20	59	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3652789	3652789	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:3652789C>G	ENST00000356518.2	-	14	1830	c.1589G>C	c.(1588-1590)tGg>tCg	p.W530S	ADAM33_ENST00000350009.2_Missense_Mutation_p.W530S|ADAM33_ENST00000379861.4_Missense_Mutation_p.W530S|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	530	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W530S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCCCCCAGAGCTGCTG	0.642																																						uc002wit.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1588-1590)TGG>TCG		ADAM metallopeptidase domain 33 isoform alpha							24.0	26.0	25.0					20																	3652789		2203	4299	6502	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652789C>G	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1589G>C	20.37:g.3652789C>G	ENSP00000348912:p.Trp530Ser					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.W530S|ADAM33_uc002wis.2_Missense_Mutation_p.W52S|ADAM33_uc002wiu.2_Missense_Mutation_p.W530S|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	p.W530S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			14	1676	-			530			Extracellular (Potential).|Cys-rich.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1589G>C	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.501781	0.85176	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.25250	1.81;1.81;1.81	4.54	4.54	0.55810	ADAM, cysteine-rich (2);	.	.	.	.	T	0.59824	0.2222	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.70934	-0.4737	9	0.87932	D	0	.	16.016	0.80441	0.0:1.0:0.0:0.0	.	530;530;530	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	S	530;530;530;410	ENSP00000348912:W530S;ENSP00000369190:W530S;ENSP00000322550:W530S	ENSP00000322550:W530S	W	-	2	0	ADAM33	3600789	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.704000	0.61831	2.357000	0.79964	0.457000	0.33378	TGG		PASS	0.642	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		9	20	9	20	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5904410	5904410	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:5904410C>A	ENST00000378961.4	+	4	1824	c.1620C>A	c.(1618-1620)gaC>gaA	p.D540E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	540						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.D540E(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAGAAGAGACAACATGAATG	0.448																																						uc002wmg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(1618-1620)GAC>GAA		chromogranin B precursor							70.0	71.0	71.0					20																	5904410		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904410C>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1620C>A	20.37:g.5904410C>A	ENSP00000368244:p.Asp540Glu					CHGB_uc010zqz.1_Missense_Mutation_p.D223E	p.D540E	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1926	+			540					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1620C>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718358	0.48622	.	.	ENSG00000089199	ENST00000378961	T	0.01446	4.88	5.81	4.87	0.63330	.	0.804218	0.11596	N	0.548278	T	0.04907	0.0132	L	0.59436	1.845	0.20563	N	0.999888	P	0.50819	0.939	P	0.51453	0.67	T	0.40459	-0.9562	10	0.52906	T	0.07	-14.6861	9.0502	0.36372	0.0:0.7814:0.0:0.2186	.	540	P05060	SCG1_HUMAN	E	540	ENSP00000368244:D540E	ENSP00000368244:D540E	D	+	3	2	CHGB	5852410	0.536000	0.26378	0.981000	0.43875	0.934000	0.57294	0.353000	0.20130	1.445000	0.47624	0.655000	0.94253	GAC		PASS	0.448	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		18	58	18	58	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8862385	8862385	+	Silent	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:8862385T>C	ENST00000338037.6	+	32	3567	c.3540T>C	c.(3538-3540)ggT>ggC	p.G1180G	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1180					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.G1180G(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCAATCACGGTTCTGCCCCTC	0.483																																						uc002wnb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3538-3540)GGT>GGC		phosphoinositide-specific phospholipase C beta 1							177.0	184.0	181.0					20																	8862385		2203	4300	6503	SO:0001819	synonymous_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862385T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3540T>C	20.37:g.8862385T>C						PLCB1_uc002wna.2_3'UTR	p.G1180G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			32	3543	+			1180					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	c.3540T>C	CCDS13102.1																																																																																				PASS	0.483	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			53	186	53	186	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9368183	9368183	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:9368183T>A	ENST00000378493.1	+	12	1153	c.1138T>A	c.(1138-1140)Tgt>Agt	p.C380S	PLCB4_ENST00000278655.4_Missense_Mutation_p.C380S|PLCB4_ENST00000378501.2_Missense_Mutation_p.C380S|PLCB4_ENST00000334005.3_Missense_Mutation_p.C380S|PLCB4_ENST00000414679.2_Missense_Mutation_p.C380S|PLCB4_ENST00000378473.3_Missense_Mutation_p.C380S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	380	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.C380S(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAAGCAATGTGTACAGATAT	0.343																																						uc002wnf.2																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(1138-1140)TGT>AGT		phospholipase C beta 4 isoform b							138.0	135.0	136.0					20																	9368183		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9368183T>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1138T>A	20.37:g.9368183T>A	ENSP00000367754:p.Cys380Ser					PLCB4_uc010gbw.1_Missense_Mutation_p.C380S|PLCB4_uc010gbx.2_Missense_Mutation_p.C380S|PLCB4_uc002wne.2_Missense_Mutation_p.C380S|PLCB4_uc002wnh.2_Missense_Mutation_p.C227S	p.C380S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			14	1274	+			380			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1138T>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771030	0.90108	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.9	5.9	0.94986	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;0.968;1.0	D;D;D;D	0.91635	0.999;0.965;0.977;0.992	T	0.74463	-0.3657	10	0.87932	D	0	.	16.3318	0.83023	0.0:0.0:0.0:1.0	.	380;227;380;380	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	380;380;380;380;380;216	ENSP00000334105:C380S;ENSP00000367734:C380S;ENSP00000278655:C380S;ENSP00000367754:C380S;ENSP00000367762:C380S;ENSP00000390616:C216S	ENSP00000278655:C380S	C	+	1	0	PLCB4	9316183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.021000	0.88750	2.248000	0.74166	0.460000	0.39030	TGT		PASS	0.343	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	32	16	32	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20486105	20486105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:20486105C>A	ENST00000202677.7	-	34	5009	c.5002G>T	c.(5002-5004)Gaa>Taa	p.E1668*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1668	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E1668*(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTTCCTCTTTCATTAGAGAGG	0.373																																						uc002wrz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(5002-5004)GAA>TAA		akt substrate AS250							69.0	67.0	68.0					20																	20486105		1928	4165	6093	SO:0001587	stop_gained	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20486105C>A	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5002G>T	20.37:g.20486105C>A	ENSP00000202677:p.Glu1668*					RALGAPA2_uc010gcx.2_Nonsense_Mutation_p.E1372*|RALGAPA2_uc010zsg.1_Nonsense_Mutation_p.E1116*|RALGAPA2_uc002wsa.1_Nonsense_Mutation_p.E440*	p.E1668*	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			34	5145	-			1668			Rap-GAP.		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	c.5002G>T	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.859949|11.859949	0.99611|0.99611	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436;ENST00000427175	.|.	.|.	.|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.340666|.	0.35151|.	N|.	0.003420|.	.|T	.|0.55065	.|0.1897	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63812	.|-0.6552	.|3	0.10377|.	T|.	0.69|.	.|.	10.0492|10.0492	0.42205|0.42205	0.0:0.7904:0.1387:0.071|0.0:0.7904:0.1387:0.071	.|.	.|.	.|.	.|.	X|I	98;1668|1484;78	.|.	ENSP00000202677:E1668X|.	E|M	-|-	1|3	0|0	RALGAPA2|RALGAPA2	20434105|20434105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	2.340000|2.340000	0.43974|0.43974	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.373	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	12	5	12	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31380550	31380550	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:31380550G>A	ENST00000328111.2	+	9	1361	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	DNMT3B_ENST00000353855.2_Missense_Mutation_p.G347D|DNMT3B_ENST00000201963.3_Missense_Mutation_p.G359D|DNMT3B_ENST00000443239.3_Missense_Mutation_p.G305D|DNMT3B_ENST00000456297.2_Missense_Mutation_p.G271D|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.G347D|DNMT3B_ENST00000344505.4_Missense_Mutation_p.G347D	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	347					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.G359D(1)|p.G347D(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						GGGATCGAGGGCCTCAAACCC	0.632																																						uc002wyc.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(1039-1041)GGC>GAC		DNA cytosine-5 methyltransferase 3 beta isoform							64.0	62.0	62.0					20																	31380550		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.chr20:31380550G>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.1040G>A	20.37:g.31380550G>A	ENSP00000328547:p.Gly347Asp					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.G347D|DNMT3B_uc002wye.2_Missense_Mutation_p.G347D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G305D|DNMT3B_uc010zua.1_Missense_Mutation_p.G271D|DNMT3B_uc002wyf.2_Missense_Mutation_p.G359D|DNMT3B_uc002wyg.2_Missense_Mutation_p.G46D	p.G347D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			9	1361	+			347					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1040G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997126	0.93167	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.67	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.995;0.979;0.996;0.998;0.996;0.997	D	0.86242	0.1644	10	0.66056	D	0.02	-29.1329	15.6865	0.77415	0.0:0.1373:0.8627:0.0	.	271;305;46;359;347;347;347	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	D	347;433;347;347;305;271;347;359	ENSP00000328547:G347D;ENSP00000313397:G347D;ENSP00000337764:G347D;ENSP00000403169:G305D;ENSP00000412305:G271D;ENSP00000345105:G347D;ENSP00000201963:G359D	ENSP00000201963:G359D	G	+	2	0	DNMT3B	30844211	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.147000	0.94646	1.385000	0.46445	0.561000	0.74099	GGC		PASS	0.632	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		20	32	20	32	---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37356487	37356487	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:37356487G>T	ENST00000217420.1	+	2	1046	c.783G>T	c.(781-783)aaG>aaT	p.K261N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	261				K -> R (in Ref. 4; AAH36458). {ECO:0000305}.	aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.K261N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAACCTCAAGGCCGTGTCCA	0.597																																						uc002xjc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)AAG>AAT		solute carrier family 32, member 1	Glycine(DB00145)						93.0	69.0	77.0					20																	37356487		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356487G>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.783G>T	20.37:g.37356487G>T	ENSP00000217420:p.Lys261Asn						p.K261N	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1046	+		Myeloproliferative disorder(115;0.00878)	261	K -> R (in Ref. 4; AAH36458).		Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.783G>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842670	0.32606	.	.	ENSG00000101438	ENST00000217420	T	0.02197	4.4	4.87	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.05960	0.0155	L	0.52759	1.655	0.80722	D	1	D	0.55385	0.971	P	0.59424	0.857	T	0.25012	-1.0144	10	0.66056	D	0.02	-18.3384	6.3879	0.21572	0.0936:0.0:0.7223:0.1841	.	261	Q9H598	VIAAT_HUMAN	N	261	ENSP00000217420:K261N	ENSP00000217420:K261N	K	+	3	2	SLC32A1	36789901	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	3.848000	0.55903	1.171000	0.42768	-0.311000	0.09066	AAG		PASS	0.597	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		9	19	9	19	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37657096	37657096	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:37657096G>A	ENST00000252011.3	+	19	1870	c.1837G>A	c.(1837-1839)Ggc>Agc	p.G613S	DHX35_ENST00000373323.4_Missense_Mutation_p.G582S|DHX35_ENST00000373325.2_Missense_Mutation_p.G613S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	613					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.G613S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CATTGTCTCCGGCTTCTTCGC	0.493																																						uc002xjh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(1837-1839)GGC>AGC		DEAH (Asp-Glu-Ala-His) box polypeptide 35							181.0	167.0	172.0					20																	37657096		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37657096G>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1837G>A	20.37:g.37657096G>A	ENSP00000252011:p.Gly613Ser					DHX35_uc010zwa.1_Missense_Mutation_p.G458S|DHX35_uc010zwb.1_Missense_Mutation_p.G458S|DHX35_uc010zwc.1_Missense_Mutation_p.G582S	p.G613S	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			19	1848	+		Myeloproliferative disorder(115;0.00878)	613					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1837G>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673010	0.88445	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.64618	4.3;4.24;4.24;-0.11	5.37	5.37	0.77165	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.84438	0.0581	10	0.72032	D	0.01	.	18.26	0.90031	0.0:0.0:1.0:0.0	.	582;613	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	S	613;613;582;93;77	ENSP00000362422:G613S;ENSP00000252011:G613S;ENSP00000362420:G582S;ENSP00000397997:G77S	ENSP00000252011:G613S	G	+	1	0	DHX35	37090510	1.000000	0.71417	0.971000	0.41717	0.386000	0.30323	8.712000	0.91403	2.665000	0.90641	0.655000	0.94253	GGC		PASS	0.493	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		32	62	32	62	---	---	---	---
SEMG1	6406	broad.mit.edu	37	20	43836175	43836175	+	Silent	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:43836175C>T	ENST00000372781.3	+	2	294	c.237C>T	c.(235-237)tcC>tcT	p.S79S	SEMG1_ENST00000244069.6_Silent_p.S79S	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	79	Repeat-rich region. {ECO:0000250}.		S -> T (less common genetic variant; dbSNP:rs2301366). {ECO:0000269|PubMed:14562960, ECO:0000269|PubMed:14629036}.		insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S79S(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGACCAGTCCCGAAAAAGTC	0.383																																						uc002xni.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(235-237)TCC>TCT		semenogelin I preproprotein							147.0	134.0	138.0					20																	43836175		2203	4300	6503	SO:0001819	synonymous_variant	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836175C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.237C>T	20.37:g.43836175C>T						SEMG1_uc002xnj.2_Silent_p.S79S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.S79S	p.S79S	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	294	+		Myeloproliferative disorder(115;0.0122)	79					Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.237C>T	CCDS13345.1																																																																																				PASS	0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		18	79	18	79	---	---	---	---
ZNF217	7764	broad.mit.edu	37	20	52193465	52193465	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:52193465T>A	ENST00000371471.2	-	4	2263	c.1838A>T	c.(1837-1839)aAa>aTa	p.K613I	ZNF217_ENST00000302342.3_Missense_Mutation_p.K613I|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	613					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K613I(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTATTCACTTTATCAGCACT	0.438																																						uc002xwq.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1837-1839)AAA>ATA		zinc finger protein 217							155.0	148.0	151.0					20																	52193465		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193465T>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1838A>T	20.37:g.52193465T>A	ENSP00000360526:p.Lys613Ile					ZNF217_uc010gij.1_Missense_Mutation_p.K605I	p.K613I	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		3	2109	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		613					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.1838A>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.421615	0.43020	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10668	2.85;2.85	5.25	-3.68	0.04463	.	1.006310	0.07985	N	0.986185	T	0.09862	0.0242	M	0.67953	2.075	0.09310	N	1	P	0.45902	0.868	B	0.34038	0.174	T	0.18085	-1.0348	10	0.62326	D	0.03	-1.5698	7.8737	0.29582	0.0:0.3989:0.1131:0.488	.	613	O75362	ZN217_HUMAN	I	613	ENSP00000360526:K613I;ENSP00000304308:K613I	ENSP00000304308:K613I	K	-	2	0	ZNF217	51626872	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.241000	0.08940	-0.933000	0.03737	-0.451000	0.05528	AAA		PASS	0.438	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		23	36	23	36	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58318296	58318296	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr20:58318296A>G	ENST00000371015.1	+	2	720	c.253A>G	c.(253-255)Aac>Gac	p.N85D	PHACTR3_ENST00000395639.4_Missense_Mutation_p.N44D|PHACTR3_ENST00000541461.1_Missense_Mutation_p.N44D|PHACTR3_ENST00000395636.2_Missense_Mutation_p.N44D|PHACTR3_ENST00000361300.4_Missense_Mutation_p.N44D|PHACTR3_ENST00000355648.4_Missense_Mutation_p.N44D|PHACTR3_ENST00000359926.3_Missense_Mutation_p.N82D	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	85						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.N85D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAAAAGAAAAACGAAAAACT	0.567																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(253-255)AAC>GAC		phosphatase and actin regulator 3 isoform 1							67.0	64.0	65.0					20																	58318296		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318296A>G	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.253A>G	20.37:g.58318296A>G	ENSP00000360054:p.Asn85Asp					PHACTR3_uc002yat.2_Missense_Mutation_p.N82D|PHACTR3_uc010zzw.1_Missense_Mutation_p.N44D|PHACTR3_uc002yav.2_Missense_Mutation_p.N44D|PHACTR3_uc002yaw.2_Missense_Mutation_p.N44D|PHACTR3_uc002yax.2_Missense_Mutation_p.N44D	p.N85D	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	720	+	all_lung(29;0.00344)		85					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.253A>G	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593126	0.86953	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33216	1.81;1.82;1.42;1.83;1.83;1.83;1.42	4.26	4.26	0.50523	.	0.097273	0.64402	D	0.000002	T	0.49558	0.1564	L	0.58810	1.83	0.58432	D	0.999998	B;D;D	0.69078	0.241;0.997;0.997	B;D;D	0.75020	0.103;0.985;0.985	T	0.52170	-0.8611	10	0.72032	D	0.01	-13.6708	12.5455	0.56197	1.0:0.0:0.0:0.0	.	44;85;82	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	D	82;85;44;44;44;44;44	ENSP00000353002:N82D;ENSP00000360054:N85D;ENSP00000379001:N44D;ENSP00000442483:N44D;ENSP00000347866:N44D;ENSP00000378998:N44D;ENSP00000354555:N44D	ENSP00000347866:N44D	N	+	1	0	PHACTR3	57751691	1.000000	0.71417	0.977000	0.42913	0.920000	0.55202	9.080000	0.94040	1.555000	0.49500	0.379000	0.24179	AAC		PASS	0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		17	39	17	39	---	---	---	---
KRTAP13-2	337959	broad.mit.edu	37	21	31744283	31744283	+	Silent	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr21:31744283G>A	ENST00000399889.2	-	1	274	c.249C>T	c.(247-249)ccC>ccT	p.P83P		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	83	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.P83P(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGAGGTTCTGGGGCGGTAGC	0.607																																						uc002ynz.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)CCC>CCT		keratin associated protein 13-2							60.0	60.0	60.0					21																	31744283		2203	4300	6503	SO:0001819	synonymous_variant	337959					intermediate filament		g.chr21:31744283G>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.249C>T	21.37:g.31744283G>A							p.P83P	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	275	-			83			4.|5 X 10 AA approximate repeats.			Silent	SNP	ENST00000399889.2	37	c.249C>T	CCDS13589.1																																																																																				PASS	0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			16	33	16	33	---	---	---	---
KRTAP13-3	337960	broad.mit.edu	37	21	31797811	31797811	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr21:31797811C>G	ENST00000390690.2	-	1	475	c.420G>C	c.(418-420)caG>caC	p.Q140H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	140						intermediate filament (GO:0005882)		p.Q140H(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ATCTATAACTCTGGGAAGGGG	0.468																																						uc002yob.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(418-420)CAG>CAC		keratin associated protein 13-3							51.0	51.0	51.0					21																	31797811		1952	4188	6140	SO:0001583	missense	337960					intermediate filament		g.chr21:31797811C>G	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.420G>C	21.37:g.31797811C>G	ENSP00000375109:p.Gln140His						p.Q140H	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	420	-			140					Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	c.420G>C	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.234637	0.39498	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.03468	3.92	4.78	2.91	0.33838	.	1.352570	0.05815	U	0.614635	T	0.05731	0.0150	L	0.38175	1.15	0.09310	N	1	P	0.46656	0.882	P	0.45343	0.477	T	0.41124	-0.9526	10	0.72032	D	0.01	0.7594	6.2803	0.21003	0.1833:0.719:0.0:0.0977	.	140	Q3SY46	KR133_HUMAN	H	140;130	ENSP00000375109:Q140H	ENSP00000375109:Q140H	Q	-	3	2	KRTAP13-3	30719682	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.078000	0.11375	0.659000	0.30945	0.580000	0.79431	CAG		PASS	0.468	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			8	22	8	22	---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45548185	45548185	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr21:45548185T>C	ENST00000291576.7	+	19	2544	c.2417T>C	c.(2416-2418)tTa>tCa	p.L806S	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	806					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.L806S(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTGGAGTTTTTAGCTTCCTCC	0.478																																						uc002zeb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2416-2418)TTA>TCA		PWP2 periodic tryptophan protein homolog							136.0	132.0	133.0					21																	45548185		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45548185T>C		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2417T>C	21.37:g.45548185T>C	ENSP00000291576:p.Leu806Ser						p.L806S	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	19	2507	+			806					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2417T>C	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.479922	0.63849	.	.	ENSG00000241945	ENST00000291576	T	0.67865	-0.29	4.02	4.02	0.46733	.	0.154071	0.41823	D	0.000801	T	0.80949	0.4722	M	0.82823	2.61	0.44908	D	0.997928	D	0.63880	0.993	D	0.65010	0.931	D	0.84593	0.0668	10	0.87932	D	0	-5.339	13.6725	0.62434	0.0:0.0:0.0:1.0	.	806	Q15269	PWP2_HUMAN	S	806	ENSP00000291576:L806S	ENSP00000291576:L806S	L	+	2	0	PWP2	44372613	0.989000	0.36119	0.034000	0.17996	0.715000	0.41141	7.744000	0.85034	1.765000	0.52091	0.460000	0.39030	TTA		PASS	0.478	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	44	18	44	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45815337	45815337	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr21:45815337C>G	ENST00000397928.1	+	12	2280	c.1835C>G	c.(1834-1836)tCa>tGa	p.S612*	TRPM2_ENST00000300482.5_Nonsense_Mutation_p.S612*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.S612*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.S592*	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	612					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.S612*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGCGTTCCTCAGGCCATGTG	0.617																																						uc002zet.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1834-1836)TCA>TGA		transient receptor potential cation channel,							133.0	118.0	123.0					21																	45815337		2203	4299	6502	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45815337C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1835C>G	21.37:g.45815337C>G	ENSP00000381023:p.Ser612*					TRPM2_uc002zeu.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zew.1_Nonsense_Mutation_p.S612*|TRPM2_uc010gpt.1_Nonsense_Mutation_p.S612*|TRPM2_uc002zex.1_Nonsense_Mutation_p.S398*|TRPM2_uc002zey.1_Nonsense_Mutation_p.S125*	p.S612*	NM_003307	NP_003298	O94759	TRPM2_HUMAN			13	2048	+			612			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.1835C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	37	6.464640	0.97590	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.32	3.43	0.39272	.	0.964702	0.08587	N	0.923612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	0.3019	7.4087	0.27006	0.1654:0.7486:0.0:0.0859	.	.	.	.	X	612;612;592;612	.	ENSP00000300481:S592X	S	+	2	0	TRPM2	44639765	0.004000	0.15560	0.002000	0.10522	0.926000	0.56050	1.795000	0.38784	0.948000	0.37687	0.491000	0.48974	TCA		PASS	0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		26	90	26	90	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46310005	46310005	+	Silent	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr21:46310005C>A	ENST00000397850.2	-	13	1997	c.1545G>T	c.(1543-1545)ggG>ggT	p.G515G	ITGB2_ENST00000302347.5_Silent_p.G515G|ITGB2_ENST00000397852.1_Silent_p.G515G|ITGB2_ENST00000397854.3_Silent_p.G458G|ITGB2_ENST00000355153.4_Silent_p.G515G|ITGB2_ENST00000397857.1_Silent_p.G515G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	515	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G515G(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	ACAGGCACTGCCCGCAGACAC	0.617																																						uc002zgd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(1543-1545)GGG>GGT		integrin, beta 2 precursor	Simvastatin(DB00641)						111.0	78.0	89.0					21																	46310005		2201	4300	6501	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46310005C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1545G>T	21.37:g.46310005C>A						ITGB2_uc002zge.2_Silent_p.G515G|ITGB2_uc002zgf.3_Silent_p.G515G|ITGB2_uc011afl.1_Silent_p.G437G|ITGB2_uc010gpw.2_Silent_p.G458G|ITGB2_uc002zgg.2_Silent_p.G515G	p.G515G	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	11	1589	-			515			II.|Extracellular (Potential).|Cysteine-rich tandem repeats.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.1545G>T	CCDS13716.1																																																																																				PASS	0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		7	25	7	25	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37322057	37322057	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr22:37322057C>T	ENST00000403662.3	+	4	451	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F	CSF2RB_ENST00000262825.5_Missense_Mutation_p.L77F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.L18F|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L77F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	77					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.L77F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCCTGTGACCTCAGTGATGA	0.582																																						uc003aqa.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(229-231)CTC>TTC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						122.0	89.0	100.0					22																	37322057		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37322057C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.229C>T	22.37:g.37322057C>T	ENSP00000384053:p.Leu77Phe					CSF2RB_uc003aqc.3_Missense_Mutation_p.L77F	p.L77F	NM_000395	NP_000386	P32927	IL3RB_HUMAN			4	446	+			77			Extracellular (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.229C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870173	0.51588	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.26	3.12	0.35913	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.595491	0.14032	N	0.346026	T	0.76118	0.3943	M	0.72894	2.215	0.09310	N	1	D;D	0.71674	0.998;0.996	D;P	0.66196	0.942;0.895	T	0.62978	-0.6739	10	0.54805	T	0.06	-36.5275	6.7278	0.23367	0.1754:0.7333:0.0:0.0913	.	77;77	P32927-2;P32927	.;IL3RB_HUMAN	F	77;77;77;77;18	ENSP00000384053:L77F;ENSP00000262825:L77F;ENSP00000385271:L77F;ENSP00000440003:L18F	ENSP00000262825:L77F	L	+	1	0	CSF2RB	35652003	0.001000	0.12720	0.056000	0.19401	0.019000	0.09904	0.743000	0.26231	0.673000	0.31224	0.561000	0.74099	CTC		PASS	0.582	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		8	10	8	10	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41926859	41926859	+	Silent	SNP	G	G	A	rs140901049	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr22:41926859G>A	ENST00000355209.4	-	5	736	c.393C>T	c.(391-393)taC>taT	p.Y131Y	POLR3H_ENST00000337566.5_Silent_p.Y102Y|POLR3H_ENST00000420561.1_5'Flank|POLR3H_ENST00000407461.1_Silent_p.Y131Y|POLR3H_ENST00000396504.2_Silent_p.Y131Y	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	131					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Y102Y(1)|p.Y131Y(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CCTCCGTCTCGTACTCCCACA	0.642													G|||	4	0.000798722	0.0008	0.0	5008	,	,		19999	0.0		0.003	False		,,,				2504	0.0					uc003baf.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(391-393)TAC>TAT		polymerase (RNA) III (DNA directed) polypeptide		G	,,	3,4403	6.2+/-15.9	0,3,2200	133.0	97.0	109.0		393,306,393	-10.8	0.5	22	dbSNP_134	109	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,coding-synonymous,coding-synonymous	POLR3H	NM_001018050.2,NM_001018052.2,NM_138338.3	,,	0,23,6480	AA,AG,GG		0.2326,0.0681,0.1768	,,	131/205,102/176,131/205	41926859	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41926859G>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.393C>T	22.37:g.41926859G>A						POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.Y131Y|POLR3H_uc003bai.2_Silent_p.Y102Y	p.Y131Y	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			6	453	-			131					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	c.393C>T	CCDS14018.1																																																																																				PASS	0.642	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		15	24	15	24	---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12735105	12735105	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:12735105G>T	ENST00000380682.1	+	15	3033	c.2527G>T	c.(2527-2529)Gat>Tat	p.D843Y		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	843					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D833Y(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGCAAAATGATGAGATCCC	0.577																																						uc004cuz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(2527-2529)GAT>TAT		FERM and PDZ domain containing 4							97.0	87.0	91.0					X																	12735105		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735105G>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2527G>T	X.37:g.12735105G>T	ENSP00000370057:p.Asp843Tyr					FRMPD4_uc011mij.1_Missense_Mutation_p.D835Y	p.D843Y	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	3033	+			843					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2527G>T	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885384	0.51908	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.35605	1.3	5.26	4.38	0.52667	.	0.204266	0.50627	D	0.000111	T	0.47967	0.1474	M	0.66939	2.045	0.24701	N	0.993259	P;P	0.49961	0.93;0.93	P;P	0.52309	0.695;0.695	T	0.46076	-0.9217	10	0.87932	D	0	.	12.745	0.57276	0.0817:0.0:0.9183:0.0	.	835;843	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	Y	843;834;832	ENSP00000370057:D843Y	ENSP00000304583:D832Y	D	+	1	0	FRMPD4	12645026	0.997000	0.39634	0.487000	0.27428	0.995000	0.86356	3.868000	0.56055	2.334000	0.79466	0.600000	0.82982	GAT		PASS	0.577	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	25	30	25	---	---	---	---
MED14	9282	broad.mit.edu	37	X	40539210	40539210	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:40539210C>T	ENST00000324817.1	-	21	2904	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	929					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R929Q(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTCGACTCCGGCAGTATAT	0.463																																						uc004dex.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|kidney(1)|skin(1)	4						c.(2785-2787)CGG>CAG		mediator complex subunit 14							154.0	122.0	133.0					X																	40539210		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40539210C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2786G>A	X.37:g.40539210C>T	ENSP00000323720:p.Arg929Gln						p.R929Q	NM_004229	NP_004220	O60244	MED14_HUMAN			21	2926	-			929					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.2786G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678147	0.68042	.	.	ENSG00000180182	ENST00000324817	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.33624	-0.9861	9	0.46703	T	0.11	.	13.8179	0.63303	0.0:0.9263:0.0:0.0737	.	929	O60244	MED14_HUMAN	Q	929	.	ENSP00000323720:R929Q	R	-	2	0	MED14	40424154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.564000	0.60830	2.614000	0.88457	0.594000	0.82650	CGG		PASS	0.463	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		6	24	6	24	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50136227	50136227	+	RNA	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:50136227G>T	ENST00000376025.2	-	0	1577							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I302I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGAGGAAGACGATCCCCTGAT	0.448																																						uc010njr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1516-1518)ATC>ATA		diacylglycerol kinase kappa							92.0	84.0	87.0					X																	50136227		2039	4179	6218			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50136227G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136227G>T							p.I506I	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			9	1578	-	Ovarian(276;0.236)		506			DAGKc.		B2RP91	Silent	SNP	ENST00000376025.2	37	c.1518C>A																																																																																					PASS	0.448	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		18	16	18	16	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73069027	73069027	+	lincRNA	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:73069027G>C	ENST00000429829.1	-	0	3561					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTACTACTTTGTTCTTTAATT	0.433																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							44.0	43.0	43.0					X																	73069027		875	1990	2865			7503							g.chrX:73069027G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73069027G>C								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.3562C>G																																																																																					PASS	0.433	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		15	11	15	11	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132500	91132500	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:91132500G>T	ENST00000373094.1	+	2	2106	c.1261G>T	c.(1261-1263)Gca>Tca	p.A421S	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A421S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A421S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A421S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A421S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A421S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A421S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A421S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A421S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A421S(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTGGAGACTGCAGCATATCT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1261-1263)GCA>TCA		protocadherin 11 X-linked isoform c							148.0	126.0	133.0					X																	91132500		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132500G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1261G>T	X.37:g.91132500G>T	ENSP00000362186:p.Ala421Ser					PCDH11X_uc004efl.1_Missense_Mutation_p.A421S|PCDH11X_uc004efo.1_Missense_Mutation_p.A421S|PCDH11X_uc010nmv.1_Missense_Mutation_p.A421S|PCDH11X_uc004efm.1_Missense_Mutation_p.A421S|PCDH11X_uc004efn.1_Missense_Mutation_p.A421S|PCDH11X_uc004efh.1_Missense_Mutation_p.A421S|PCDH11X_uc004efj.1_Missense_Mutation_p.A421S	p.A421S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2106	+			421			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1261G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.180258	0.01633	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.16	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.053325	0.64402	D	0.000001	T	0.33469	0.0864	N	0.11364	0.135	0.46376	D	0.999019	P;B;P;P;P;P;B;B	0.40032	0.478;0.332;0.65;0.65;0.65;0.699;0.24;0.24	B;B;B;B;B;P;B;B	0.47786	0.28;0.147;0.421;0.421;0.421;0.557;0.28;0.28	T	0.13602	-1.0503	10	0.02654	T	1	.	14.3985	0.67027	0.0:0.0:0.8412:0.1587	.	421;421;421;421;421;421;421;421	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	421	ENSP00000378746:A421S;ENSP00000362186:A421S;ENSP00000362189:A421S;ENSP00000355040:A421S;ENSP00000362180:A421S;ENSP00000423762:A421S;ENSP00000355105:A421S;ENSP00000384758:A421S;ENSP00000298274:A421S	ENSP00000298274:A421S	A	+	1	0	PCDH11X	91019156	1.000000	0.71417	0.997000	0.53966	0.634000	0.38068	6.230000	0.72301	2.115000	0.64714	0.544000	0.68410	GCA		PASS	0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		22	25	22	25	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100503557	100503557	+	Missense_Mutation	SNP	G	G	C	rs149294275		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:100503557G>C	ENST00000395209.3	+	14	2036	c.1509G>C	c.(1507-1509)ttG>ttC	p.L503F	DRP2_ENST00000402866.1_Missense_Mutation_p.L503F|DRP2_ENST00000541709.1_Missense_Mutation_p.L425F|DRP2_ENST00000538510.1_Missense_Mutation_p.L503F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	503					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.L500F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTGCATGCTTGTGTGGCACGG	0.468																																						uc004egz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1507-1509)TTG>TTC		dystrophin related protein 2							236.0	215.0	222.0					X																	100503557		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503557G>C	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1509G>C	X.37:g.100503557G>C	ENSP00000378635:p.Leu503Phe					DRP2_uc011mrh.1_Missense_Mutation_p.L425F	p.L503F	NM_001939	NP_001930	Q13474	DRP2_HUMAN			14	1878	+			503					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1509G>C	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233008	0.58777	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.97	2.08	0.27032	EF-hand domain, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.81964	0.4934	M	0.80422	2.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.80228	-0.1469	10	0.87932	D	0	-7.9526	9.4393	0.38659	0.0764:0.2629:0.6607:0.0	.	503	Q13474	DRP2_HUMAN	F	503;503;425;503	ENSP00000385038:L503F;ENSP00000378635:L503F;ENSP00000444752:L425F;ENSP00000441051:L503F	ENSP00000378635:L503F	L	+	3	2	DRP2	100390213	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	2.038000	0.41184	0.009000	0.14813	-0.281000	0.10026	TTG		PASS	0.468	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		58	58	58	58	---	---	---	---
VGLL1	51442	broad.mit.edu	37	X	135631089	135631089	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:135631089G>A	ENST00000370634.3	+	3	726	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A186T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GGAATCTGCCGCCAGGGAGAA	0.577																																						uc004ezy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GCC>ACC		vestigial like 1							77.0	78.0	78.0					X																	135631089		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135631089G>A	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.556G>A	X.37:g.135631089G>A	ENSP00000359668:p.Ala186Thr					MIR934_hsa-mir-934|MI0005756_5'Flank	p.A186T	NM_016267	NP_057351	Q99990	VGLL1_HUMAN			3	726	+	Acute lymphoblastic leukemia(192;0.000127)		186					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.556G>A	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	1.258	-0.616692	0.03663	.	.	ENSG00000102243	ENST00000370634	T	0.44881	0.91	5.61	-1.66	0.08265	.	1.404370	0.03916	N	0.282695	T	0.25121	0.0610	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08269	-1.0730	10	0.27082	T	0.32	5.962	3.5328	0.07784	0.3135:0.0:0.3133:0.3731	.	186	Q99990	VGLL1_HUMAN	T	186	ENSP00000359668:A186T	ENSP00000359668:A186T	A	+	1	0	VGLL1	135458755	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.415000	0.07106	-0.774000	0.04590	-0.340000	0.08031	GCC		PASS	0.577	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		38	23	38	23	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147030327	147030327	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:147030327T>A	ENST00000370475.4	+	17	1990	c.1862T>A	c.(1861-1863)gTg>gAg	p.V621E	FMR1_ENST00000439526.2_Missense_Mutation_p.V581E|FMR1_ENST00000370471.3_Missense_Mutation_p.W531R|FMR1_ENST00000370470.1_Missense_Mutation_p.V579E|FMR1_ENST00000440235.2_Missense_Mutation_p.V251E|FMR1_ENST00000370477.1_Missense_Mutation_p.V571E|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.V600E	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	621	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V621E(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACAGCGTGGATGGTCAG	0.423									Fragile X syndrome																													uc010nst.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1861-1863)GTG>GAG		fragile X mental retardation 1							141.0	120.0	127.0					X																	147030327		2203	4300	6503	SO:0001583	missense	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147030327T>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1862T>A	X.37:g.147030327T>A	ENSP00000359506:p.Val621Glu					FMR1_uc004fcj.2_Missense_Mutation_p.V581E|FMR1_uc004fck.3_Missense_Mutation_p.V575E|FMR1_uc004fcl.3_Missense_Mutation_p.V461E|FMR1_uc011mxa.1_Missense_Mutation_p.V251E	p.V621E	NM_002024	NP_002015	Q06787	FMR1_HUMAN			17	2051	+	Acute lymphoblastic leukemia(192;6.56e-05)		621			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1862T>A	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.720250|3.720250	0.68959|0.68959	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.47528|0.58940	1.19;1.17;1.21;1.14;0.84;1.42|0.3	5.61|5.61	1.77|1.77	0.24775|0.24775	.|.	0.397538|.	0.27549|.	N|.	0.018880|.	T|T	0.41488|0.41488	0.1161|0.1161	N|N	0.14661|0.14661	0.345|0.345	0.43238|0.43238	D|D	0.99514|0.99514	D;B;B;B;P|.	0.56746|.	0.977;0.215;0.07;0.043;0.493|.	P;B;B;B;B|.	0.55923|.	0.787;0.064;0.029;0.03;0.109|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|7	0.44086|0.87932	T|D	0.13|0	-45.2601|-45.2601	5.0463|5.0463	0.14485|0.14485	0.0:0.2519:0.1444:0.6037|0.0:0.2519:0.1444:0.6037	.|.	251;621;516;575;581|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	E|R	600;571;621;581;579;251|531	ENSP00000218200:V600E;ENSP00000359508:V571E;ENSP00000359506:V621E;ENSP00000395923:V581E;ENSP00000359501:V579E;ENSP00000413764:V251E|ENSP00000359502:W531R	ENSP00000218200:V600E|ENSP00000359502:W531R	V|W	+|+	2|1	0|0	FMR1|FMR1	146838019|146838019	0.997000|0.997000	0.39634|0.39634	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	0.293000|0.293000	0.19029|0.19029	0.022000|0.022000	0.15160|0.15160	0.481000|0.481000	0.45027|0.45027	GTG|TGG		PASS	0.423	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		27	23	27	23	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150912443	150912443	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:150912443G>C	ENST00000329903.4	+	6	1501	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	490					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E490Q(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					catcggcaaGGAGATGTACAT	0.537																																						uc004fey.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1468-1470)GAG>CAG		cyclic nucleotide gated channel alpha 2							155.0	129.0	138.0					X																	150912443		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912443G>C	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1468G>C	X.37:g.150912443G>C	ENSP00000328478:p.Glu490Gln						p.E490Q	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1692	+	Acute lymphoblastic leukemia(192;6.56e-05)		490			cAMP (By similarity).|Cytoplasmic (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1468G>C	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853871	0.71719	.	.	ENSG00000183862	ENST00000329903	D	0.92858	-3.12	5.33	5.33	0.75918	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95671	0.8592	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96154	0.9110	10	0.87932	D	0	.	15.3498	0.74373	0.0:0.0:1.0:0.0	.	490	Q16280	CNGA2_HUMAN	Q	490	ENSP00000328478:E490Q	ENSP00000328478:E490Q	E	+	1	0	CNGA2	150663099	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.216000	0.71823	0.529000	0.55759	GAG		PASS	0.537	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		35	35	35	35	---	---	---	---
RBMY1A1	5940	broad.mit.edu	37	Y	23702602	23702602	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrY:23702602C>A	ENST00000382707.2	+	4	484	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	RBMY1A1_ENST00000439108.2_5'UTR|RBMY1A1_ENST00000303902.5_Missense_Mutation_p.S111Y	NM_005058.2	NP_005049.1	P0DJD3	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1, member A1	111					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.S111Y(1)		lung(3)	3						AGTCTGAGATCTGCAAGAGGA	0.458																																						uc004fuq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)TCT>TAT		RNA binding motif protein, Y-linked, family 1,							14.0	39.0	34.0					Y																	23702602		493	1715	2208	SO:0001583	missense	5940				mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|RNA binding	g.chrY:23702602C>A		CCDS14796.1	Yq11.23	2013-02-12	2003-09-12		ENSG00000234414	ENSG00000234414		"""RNA binding motif (RRM) containing"""	9912	protein-coding gene	gene with protein product		400006	"""RNA binding motif protein, Y chromosome, family 1, member A1"""	RBM1, RBM2		8269511, 9598316	Standard	XM_005262514		Approved	YRRM1, YRRM2		P0DJD3	OTTHUMG00000043592	ENST00000382707.2:c.332C>A	Y.37:g.23702602C>A	ENSP00000372154:p.Ser111Tyr					RBMY1A1_uc010nxa.2_Missense_Mutation_p.S111Y|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.S76Y	p.S111Y	NM_001006120	NP_001006120	Q15414	RBY1A_HUMAN			4	444	+			111					Q15376|Q15377|Q15414|Q6NSB5|Q86VU6|Q8NHR0	Missense_Mutation	SNP	ENST00000382707.2	37	c.332C>A	CCDS14796.1																																																																																				PASS	0.458	RBMY1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101933.2	NM_005058		8	70	8	70	---	---	---	---
WDR1	9948	broad.mit.edu	37	4	10089385	10089385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr4:10089385delC	ENST00000499869.2	-	8	1090	c.897delG	c.(895-897)gggfs	p.G299fs	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Frame_Shift_Del_p.G159fs|WDR1_ENST00000382452.2_Frame_Shift_Del_p.G299fs|WDR1_ENST00000382451.2_Frame_Shift_Del_p.G159fs			O75083	WDR1_HUMAN	WD repeat domain 1	299					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGTTGATGTACCCGGACAGGG	0.607																																						uc003gmf.2																			0				ovary(2)|pancreas(1)	3						c.(895-897)GGGfs		WD repeat-containing protein 1 isoform 1							54.0	62.0	59.0					4																	10089385		2050	4198	6248	SO:0001589	frameshift_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10089385delC	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.897delG	4.37:g.10089385delC	ENSP00000427687:p.Gly299fs					WDR1_uc003gmg.2_Frame_Shift_Del_p.G159fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Del_p.G134fs	p.G299fs	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	8	1180	-			299					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Frame_Shift_Del	DEL	ENST00000499869.2	37	c.897delG	CCDS54740.1																																																																																					0.607	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			10	7	10	7	---	---	---	---
ERLIN2	11160	broad.mit.edu	37	8	37593486	37593487	+	5'Flank	INS	-	-	A	rs112819064		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:37593486_37593487insA	ENST00000276461.5	+	0	0				ERLIN2_ENST00000397228.2_5'Flank|ERLIN2_ENST00000523107.1_5'Flank|RP11-863K10.2_ENST00000523507.1_RNA|ERLIN2_ENST00000519638.1_5'Flank|RP11-863K10.7_ENST00000330539.1_Frame_Shift_Ins_p.S177fs|ERLIN2_ENST00000523887.1_5'Flank|ERLIN2_ENST00000518586.1_5'Flank|ERLIN2_ENST00000335171.6_5'Flank	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATCAAGGAGAGAAAAAAAAAAA	0.46																																						uc003xkb.1																			0											c.(529-531)TCTfs		SubName: Full=Putative uncharacterized protein ENSP00000328874;																																				SO:0001631	upstream_gene_variant	0							g.chr8:37593486_37593487insA	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005		8.37:g.37593497_37593497dupA	Exception_encountered					ERLIN2_uc003xkc.3_5'Flank|ERLIN2_uc003xkd.2_5'Flank|ERLIN2_uc003xke.3_5'Flank|ERLIN2_uc003xkf.3_5'Flank|ERLIN2_uc003xkg.2_5'Flank	p.S177fs							2	878_879	-								A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Ins	INS	ENST00000276461.5	37	c.529_530insT	CCDS6095.1																																																																																					0.460	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		4	2	4	2	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					uc003xnt.2																			0				central_nervous_system(1)	1						c.(37-42)GCAGCC>GCC		secreted frizzled-related protein 1 precursor				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.13_14AA>A	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	341_343	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13_14	Missing (in Ref. 1 and 3).				O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																					0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		4	4	4	4	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32868646	32868646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr13:32868646delA	ENST00000380250.3	+	60	9218	c.8722delA	c.(8722-8724)atgfs	p.M2908fs	FRY_ENST00000542859.1_Frame_Shift_Del_p.M278fs|FRY_ENST00000380217.1_Frame_Shift_Del_p.M90fs	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2908						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATCCAGTCCATGCTGGAGTG	0.547																																						uc001utx.2																			0				ovary(5)|large_intestine(1)|skin(1)	7						c.(8722-8724)ATGfs		furry homolog							88.0	94.0	92.0					13																	32868646		2064	4210	6274	SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32868646delA	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8722delA	13.37:g.32868646delA	ENSP00000369600:p.Met2908fs					FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Frame_Shift_Del_p.M439fs|FRY_uc010tdx.1_Frame_Shift_Del_p.M278fs	p.M2908fs	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	60	9218	+		Lung SC(185;0.0271)	2908					Q9Y3N6	Frame_Shift_Del	DEL	ENST00000380250.3	37	c.8722delA	CCDS41875.1																																																																																					0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		39	20	39	20	---	---	---	---
C14orf105	55195	broad.mit.edu	37	14	57949802	57949803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr14:57949802_57949803insT	ENST00000216445.3	-	3	509_510	c.373_374insA	c.(373-375)aggfs	p.R125fs	C14orf105_ENST00000422976.2_Frame_Shift_Ins_p.R125fs|C14orf105_ENST00000534126.1_Frame_Shift_Ins_p.R125fs|C14orf105_ENST00000526336.1_3'UTR	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	125										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GTGCATTGTCCTGGCTTCTCGC	0.53																																						uc001xcy.2																			0					0						c.(373-375)AGGfs		hypothetical protein LOC55195																																				SO:0001589	frameshift_variant	55195							g.chr14:57949802_57949803insT	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.374dupA	14.37:g.57949803_57949803dupT	ENSP00000216445:p.Arg125fs					C14orf105_uc010trl.1_Frame_Shift_Ins_p.R125fs|C14orf105_uc010trm.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc010trn.1_Frame_Shift_Ins_p.R37fs|C14orf105_uc001xcz.2_Frame_Shift_Ins_p.R125fs|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Frame_Shift_Ins_p.R47fs	p.R125fs	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			3	516_517	-			125					Q53G04	Frame_Shift_Ins	INS	ENST00000216445.3	37	c.373_374insA	CCDS9730.1																																																																																					0.530	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2	NM_018168		22	12	22	12	---	---	---	---
SSC5D	284297	broad.mit.edu	37	19	56029616	56029617	+	In_Frame_Ins	INS	-	-	CCA	rs35104581|rs71181782|rs150781976	byFrequency	TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chr19:56029616_56029617insCCA	ENST00000389623.6	+	14	3996_3997	c.3973_3974insCCA	c.(3973-3975)ccc>cCCAcc	p.1327_1328insT		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1327	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						gacccctcaccccACAACTCCT	0.599														1953	0.389976	0.4486	0.4193	5008	,	,		12005	0.5466		0.3012	False		,,,				2504	0.2198					uc002qlg.3																			0					0						c.(3973-3975)CCC>CCCACC		scavenger receptor cysteine-rich glycoprotein				1160,1648		342,476,586						2.2	0.0		dbSNP_126	332	1299,3745		266,767,1489	no	coding	SSC5D	NM_001144950.1		608,1243,2075	A1A1,A1R,RR		25.7534,41.3105,31.3169				2459,5393				SO:0001652	inframe_insertion	284297					extracellular region|membrane	scavenger receptor activity	g.chr19:56029616_56029617insCCA		CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3974_3976dupCCA	19.37:g.56029617_56029619dupCCA	ENSP00000374274:p.Thr1327_Thr1327dup						p.1327_1328insT	NM_001144950	NP_001138422	A1L4H1	SRCRL_HUMAN			14	4060_4061	+			1327_1328			Thr-rich.|Pro-rich.		B5MDQ5|C7S7T9|C7S7U0|K7EP70	In_Frame_Ins	INS	ENST00000389623.6	37	c.3973_3974insCCA	CCDS46196.1																																																																																					0.599	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453345.2	XM_001718392		4	2	4	2	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937289	67937289	+	Frame_Shift_Del	DEL	C	C	-	rs200243164		TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:67937289delC	ENST00000252336.6	+	5	665	c.293delC	c.(292-294)gccfs	p.A98fs	STARD8_ENST00000374599.3_Frame_Shift_Del_p.A178fs|STARD8_ENST00000374597.3_Frame_Shift_Del_p.A98fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	98					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCAGGCCGTGCCCCCAGCTCG	0.647																																						uc004dxa.2																			0				breast(3)|ovary(2)|pancreas(1)	6						c.(292-294)GCCfs		StAR-related lipid transfer (START) domain							49.0	41.0	44.0					X																	67937289		2203	4299	6502	SO:0001589	frameshift_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937289delC	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.293delC	X.37:g.67937289delC	ENSP00000252336:p.Ala98fs					STARD8_uc004dxb.2_Frame_Shift_Del_p.A178fs|STARD8_uc004dxc.3_Frame_Shift_Del_p.A98fs	p.A98fs	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	665	+			98					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Frame_Shift_Del	DEL	ENST00000252336.6	37	c.293delC	CCDS14390.1																																																																																					0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		4	5	4	5	---	---	---	---
GPR101	83550	broad.mit.edu	37	X	136113576	136113576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2789-01A-01D-0983-08	TCGA-66-2789-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fab8faeb-35b3-42f0-b0af-4dfb1325a21a	67957e04-4311-47a6-b98a-2531bc6aeed5	g.chrX:136113576delG	ENST00000298110.1	-	1	257	c.258delC	c.(256-258)cccfs	p.P86fs		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CCACCACCCAGGGGGCCACGA	0.617																																						uc011mwh.1																			0				ovary(3)|lung(1)|skin(1)	5						c.(256-258)CCCfs		G protein-coupled receptor 101							50.0	47.0	48.0					X																	136113576		2203	4300	6503	SO:0001589	frameshift_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113576delG	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.258delC	X.37:g.136113576delG	ENSP00000298110:p.Pro86fs						p.P86fs	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	258	-	Acute lymphoblastic leukemia(192;0.000127)		86			Helical; Name=2; (Potential).		Q5JSM8|Q8NG93	Frame_Shift_Del	DEL	ENST00000298110.1	37	c.258delC	CCDS14662.1																																																																																					0.617	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			17	17	17	17	---	---	---	---
