#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MEGF6	1953	broad.mit.edu	37	1	3425698	3425698	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:3425698A>G	ENST00000356575.4	-	12	1695	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	MEGF6_ENST00000294599.4_Missense_Mutation_p.V385A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	490						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ATCGGCCCCGACGTCGTCATC	0.682																																					Ovarian(73;978 3658)	uc001akl.2																			0				large_intestine(1)	1						c.(1468-1470)GTC>GCC		EGF-like-domain, multiple 3 precursor							15.0	19.0	18.0					1																	3425698		2007	4143	6150	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3425698A>G	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1469T>C	1.37:g.3425698A>G	ENSP00000348982:p.Val490Ala					MEGF6_uc001akk.2_Missense_Mutation_p.V385A	p.V490A	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	12	1696	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	490					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1469T>C	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	A	0.359	-0.940506	0.02322	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.86230	-2.09;-1.83	3.4	-1.76	0.08006	.	1.658660	0.04306	N	0.348106	T	0.74397	0.3711	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.15052	0.002;0.012	T	0.59590	-0.7426	10	0.02654	T	1	-2.0283	0.42	0.00455	0.2275:0.1449:0.2724:0.3551	.	490;385	O75095;O75095-2	MEGF6_HUMAN;.	A	385;490	ENSP00000294599:V385A;ENSP00000348982:V490A	ENSP00000294599:V385A	V	-	2	0	MEGF6	3415558	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.238000	0.18004	-0.555000	0.06142	0.379000	0.24179	GTC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
SNX7	51375	broad.mit.edu	37	1	99203845	99203845	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:99203845C>T	ENST00000306121.3	+	8	1187	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SNX7_ENST00000529992.1_Missense_Mutation_p.A338V|SNX7_ENST00000370189.5_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	329					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCTAATAATGCCCTGAAAGCA	0.348																																						uc010ouc.1																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1177-1179)GCC>GTC		sorting nexin 7 isoform a							140.0	139.0	139.0					1																	99203845		2203	4299	6502	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99203845C>T	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1178C>T	1.37:g.99203845C>T	ENSP00000304429:p.Ala393Val					SNX7_uc001dsa.2_Intron|SNX7_uc010oud.1_Missense_Mutation_p.A338V	p.A393V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	8	1230	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	329					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.1178C>T	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624110	0.66901	.	.	ENSG00000162627	ENST00000529992;ENST00000306121	T;T	0.30448	1.53;1.53	5.76	5.76	0.90799	.	0.048823	0.85682	D	0.000000	T	0.37320	0.0999	L	0.57536	1.79	0.80722	D	1	D;B	0.60575	0.988;0.34	P;B	0.57204	0.815;0.257	T	0.01549	-1.1327	10	0.26408	T	0.33	-13.0059	18.9458	0.92621	0.0:1.0:0.0:0.0	.	338;393	E9PNL2;Q9UNH6-3	.;.	V	338;393	ENSP00000434731:A338V;ENSP00000304429:A393V	ENSP00000304429:A393V	A	+	2	0	SNX7	98976433	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	4.905000	0.63286	2.706000	0.92434	0.591000	0.81541	GCC		0.348	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2		
AMPD2	271	broad.mit.edu	37	1	110172108	110172108	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:110172108C>T	ENST00000256578.3	+	14	2380	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R593C|AMPD2_ENST00000358729.4_Missense_Mutation_p.R599C|AMPD2_ENST00000528667.1_Missense_Mutation_p.R674C|AMPD2_ENST00000528454.1_Missense_Mutation_p.R556C|AMPD2_ENST00000393688.3_Missense_Mutation_p.R555C	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	674			R -> H (in PCH9). {ECO:0000269|PubMed:23911318}.		cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCACCTGCGCAGGTGCCT	0.602																																						uc009wfh.1																			0				ovary(2)|breast(1)	3						c.(2020-2022)CGC>TGC		adenosine monophosphate deaminase 2 (isoform L)							180.0	172.0	175.0					1																	110172108		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172108C>T	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2020C>T	1.37:g.110172108C>T	ENSP00000256578:p.Arg674Cys					AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	p.R674C	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	15	2562	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	674					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.2020C>T	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308548|4.308548	0.81247|0.81247	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.82984	.|-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.43|4.43	4.43|4.43	0.53597|0.53597	.|Adenosine/AMP deaminase (1);	.|0.057335	.|0.64402	.|D	.|0.000002	D|D	0.93229|0.93229	0.7843|0.7843	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.996;1.0;1.0;0.999	D|D	0.95039|0.95039	0.8176|0.8176	5|10	.|0.87932	.|D	.|0	-26.9077|-26.9077	17.1969|17.1969	0.86895|0.86895	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|599;555;674;593	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|C	644|593;674;674;599;556;555	.|ENSP00000345498:R593C;ENSP00000436541:R674C;ENSP00000256578:R674C;ENSP00000351573:R599C;ENSP00000437164:R556C;ENSP00000377292:R555C	.|ENSP00000256578:R674C	A|R	+|+	2|1	0|0	AMPD2|AMPD2	109973631|109973631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.748000|5.748000	0.68697|0.68697	2.450000|2.450000	0.82876|0.82876	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1		
FLG	2312	broad.mit.edu	37	1	152281686	152281686	+	Silent	SNP	G	G	A	rs370973678	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:152281686G>A	ENST00000368799.1	-	3	5711	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1892	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.A1892A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCGAGAGG	0.572									Ichthyosis																													uc001ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5674-5676)GCC>GCT		filaggrin		G		1,4405	2.1+/-5.4	0,1,2202	269.0	272.0	271.0		5676	-3.7	0.0	1		271	0,8600		0,0,4300	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1892/4062	152281686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281686G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5676C>T	1.37:g.152281686G>A							p.A1892A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5712	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1892			Ser-rich.|Filaggrin 11.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5676C>T	CCDS30860.1																																																																																				0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	rs573106359		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.001					uc001fbl.2																			2	Substitution - Missense(2)		large_intestine(1)|prostate(1)	ovary(1)	1						c.(124-126)CGC>TGC		late cornified envelope-like proline-rich 1							172.0	150.0	157.0					1																	153177307		2203	4300	6503	SO:0001583	missense	149018							g.chr1:153177307C>T		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.124C>T	1.37:g.153177307C>T	ENSP00000357736:p.Arg42Cys						p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	234	+	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42			Cys/Pro-rich.		A1L4E1	Missense_Mutation	SNP	ENST00000368747.1	37	c.124C>T	CCDS30869.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975532	0.18736	.	.	ENSG00000203784	ENST00000368747	.	.	.	5.41	3.53	0.40419	.	0.000000	0.39407	N	0.001373	T	0.60235	0.2253	.	.	.	0.38639	D	0.951557	D	0.89917	1.0	D	0.67382	0.951	T	0.64153	-0.6474	8	0.56958	D	0.05	-16.5011	6.4963	0.22144	0.1797:0.7304:0.0:0.0899	.	42	Q5T871	LELP1_HUMAN	C	42	.	ENSP00000357736:R42C	R	+	1	0	LELP1	151443931	0.972000	0.33761	0.994000	0.49952	0.613000	0.37349	0.691000	0.25467	0.826000	0.34661	0.561000	0.74099	CGC		0.552	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039104.1	NM_001010857	
NUP210L	91181	broad.mit.edu	37	1	154067448	154067448	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:154067448T>C	ENST00000368559.3	-	15	2221	c.2150A>G	c.(2149-2151)tAc>tGc	p.Y717C	NUP210L_ENST00000271854.3_Missense_Mutation_p.Y717C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	717					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCGGTAGATGTACTGGTTCTG	0.398																																						uc001fdw.2																			0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2149-2151)TAC>TGC		nucleoporin 210kDa-like isoform 1							89.0	84.0	85.0					1																	154067448		1865	4104	5969	SO:0001583	missense	91181					integral to membrane		g.chr1:154067448T>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2150A>G	1.37:g.154067448T>C	ENSP00000357547:p.Tyr717Cys					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.Y717C	p.Y717C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2222	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		717					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2150A>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.803550	0.70682	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23754	1.89;1.89	5.63	5.63	0.86233	.	0.000000	0.52532	D	0.000072	T	0.32912	0.0845	L	0.44542	1.39	0.41384	D	0.987577	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.07908	-1.0748	10	0.51188	T	0.08	-2.2454	14.0882	0.64973	0.0:0.0:0.0:1.0	.	717;717	E7EP56;Q5VU65	.;P210L_HUMAN	C	717	ENSP00000357547:Y717C;ENSP00000271854:Y717C	ENSP00000271854:Y717C	Y	-	2	0	NUP210L	152334072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.760000	0.62235	2.147000	0.66899	0.454000	0.30748	TAC		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
ANGEL2	90806	broad.mit.edu	37	1	213181756	213181756	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:213181756C>T	ENST00000366962.3	-	3	592	c.438G>A	c.(436-438)acG>acA	p.T146T	ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000544555.1_5'UTR|ANGEL2_ENST00000540642.1_Silent_p.T20T	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	146										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTAGGATCTTCGTTTTTTCTT	0.323																																						uc001hjz.2																			0					0						c.(436-438)ACG>ACA		LOC90806 protein							136.0	133.0	134.0					1																	213181756		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213181756C>T	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.438G>A	1.37:g.213181756C>T						ANGEL2_uc010pto.1_Silent_p.T20T|ANGEL2_uc010ptp.1_Silent_p.T20T|ANGEL2_uc001hka.2_5'UTR|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.T124T	p.T146T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	593	-			146					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.438G>A	CCDS1512.1																																																																																				0.323	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
OBSCN	84033	broad.mit.edu	37	1	228557749	228557749	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:228557749G>A	ENST00000422127.1	+	91	20118	c.20074G>A	c.(20074-20076)Gaa>Aaa	p.E6692K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E4326K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E7649K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6692	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACCTCAGCGAAGACGCCAA	0.667																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(20074-20076)GAA>AAA		obscurin, cytoskeletal calmodulin and							60.0	63.0	62.0					1																	228557749		1970	4155	6125	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557749G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20074G>A	1.37:g.228557749G>A	ENSP00000409493:p.Glu6692Lys					OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	p.E6692K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			91	20118	+		Prostate(94;0.0405)	6692			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20074G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.35|12.35	1.911686|1.911686	0.33721|0.33721	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.66280|.	-0.2;-0.2|.	4.72|4.72	0.491|0.491	0.16867|0.16867	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.52364|0.52364	1.645|1.645	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.31613|0.31613	-0.9937|-0.9937	9|5	0.44086|.	T|.	0.13|.	.|.	7.8573|7.8573	0.29489|0.29489	0.1567:0.2099:0.6334:0.0|0.1567:0.2099:0.6334:0.0	.|.	6692|.	Q5VST9|.	OBSCN_HUMAN|.	K|Q	6692;4326|1308	ENSP00000409493:E6692K;ENSP00000355668:E4326K|.	ENSP00000355668:E4326K|.	E|R	+|+	1|2	0|0	OBSCN|OBSCN	226624372|226624372	0.004000|0.004000	0.15560|0.15560	0.001000|0.001000	0.08648|0.08648	0.179000|0.179000	0.23085|0.23085	0.476000|0.476000	0.22180|0.22180	-0.060000|-0.060000	0.13132|0.13132	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	rs569418675		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:232649623C>T	ENST00000366630.1	-	2	1821	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R488H			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	488					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.001					uc001hvg.2																			0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(1462-1464)CGC>CAC		signal-induced proliferation-associated 1 like							159.0	149.0	152.0					1																	232649623		1902	4119	6021	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649623C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1463G>A	1.37:g.232649623C>T	ENSP00000355589:p.Arg488His						p.R488H	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	1621	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	488					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1463G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165195	0.38217	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.87412	-2.25;-2.25	5.39	5.39	0.77823	.	0.127474	0.53938	D	0.000060	D	0.83843	0.5342	L	0.48877	1.53	0.45239	D	0.998245	B	0.33807	0.426	B	0.28232	0.087	T	0.83134	-0.0112	10	0.49607	T	0.09	-30.6894	19.3561	0.94414	0.0:1.0:0.0:0.0	.	488	Q9P2F8	SI1L2_HUMAN	H	488	ENSP00000355589:R488H;ENSP00000262861:R488H	ENSP00000262861:R488H	R	-	2	0	SIPA1L2	230716246	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	3.554000	0.53720	2.810000	0.96702	0.650000	0.86243	CGC		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
OR4C16	219428	broad.mit.edu	37	11	55340484	55340484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:55340484G>A	ENST00000314634.3	+	1	881	c.881G>A	c.(880-882)aGt>aAt	p.S294N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAAGTGAAAAGTGCCATGAGG	0.368																																						uc010rih.1																			0				ovary(1)|skin(1)	2						c.(880-882)AGT>AAT		olfactory receptor, family 4, subfamily C,							46.0	44.0	44.0					11																	55340484		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340484G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.881G>A	11.37:g.55340484G>A	ENSP00000324913:p.Ser294Asn						p.S294N	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	881	+		all_epithelial(135;0.0748)	294			Cytoplasmic (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.881G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.665743	0.00765	.	.	ENSG00000181935	ENST00000314634	T	0.36340	1.26	4.67	-4.04	0.04010	.	0.183316	0.38381	N	0.001707	T	0.09862	0.0242	N	0.05330	-0.07	0.19575	N	0.999962	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.02654	T	1	.	2.0753	0.03623	0.253:0.3824:0.2402:0.1243	.	294	Q8NGL9	OR4CG_HUMAN	N	294	ENSP00000324913:S294N	ENSP00000324913:S294N	S	+	2	0	OR4C16	55097060	0.000000	0.05858	0.906000	0.35671	0.325000	0.28411	-2.762000	0.00785	-1.010000	0.03396	-1.257000	0.01473	AGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701	
OR8H1	219469	broad.mit.edu	37	11	56058035	56058035	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:56058035G>A	ENST00000313022.2	-	1	531	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTTGAGTCGCAGAAATGCA	0.433																																						uc010rje.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(502-504)TGC>TGT		olfactory receptor, family 8, subfamily H,							99.0	90.0	93.0					11																	56058035		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058035G>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.504C>T	11.37:g.56058035G>A							p.C168C	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	504	-	Esophageal squamous(21;0.00448)		168			Extracellular (Potential).		B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.504C>T	CCDS31526.1																																																																																				0.433	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OSBP	5007	broad.mit.edu	37	11	59368009	59368009	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:59368009T>C	ENST00000263847.1	-	7	1750	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	424	Sterol binding. {ECO:0000250}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGCAGTTCTTCATGATGCT	0.468																																						uc001noc.1																			0				large_intestine(1)	1						c.(1270-1272)AAG>AGG		oxysterol binding protein							212.0	199.0	203.0					11																	59368009		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59368009T>C	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1271A>G	11.37:g.59368009T>C	ENSP00000263847:p.Lys424Arg					OSBP_uc009ymr.1_RNA	p.K424R	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	7	1751	-		all_epithelial(135;0.000236)	424			Sterol binding (By similarity).		Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.1271A>G	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401798	0.83120	.	.	ENSG00000110048	ENST00000263847	T	0.37752	1.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42799	-0.9430	10	0.19590	T	0.45	-27.3328	15.3	0.73940	0.0:0.0:0.0:1.0	.	424	P22059	OSBP1_HUMAN	R	424	ENSP00000263847:K424R	ENSP00000263847:K424R	K	-	2	0	OSBP	59124585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.105000	0.64084	0.533000	0.62120	AAG		0.468	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1		
CTSF	8722	broad.mit.edu	37	11	66328735	66328737	+	IGR	DEL	AGG	AGG	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:66328735_66328737delAGG	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGACACTGCAGGAGGAGCTGGC	0.621																																						uc001oio.1																			0					0						c.(1897-1902)CAGGAG>CAG		actinin, alpha 3																																				SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66328735_66328737delAGG	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328738_66328740delAGG						ACTN3_uc010rpi.1_RNA	p.E635del	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			17	1916_1918	+			635					B2R964|O95240|Q9NSU4|Q9UKQ5	In_Frame_Del	DEL	ENST00000310325.5	37	c.1898_1900delAGG	CCDS8144.1																																																																																				0.621	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
NAALAD2	10003	broad.mit.edu	37	11	89882229	89882229	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:89882229A>G	ENST00000534061.1	+	4	667	c.437A>G	c.(436-438)aAt>aGt	p.N146S	NAALAD2_ENST00000525171.1_Missense_Mutation_p.N146S|NAALAD2_ENST00000321955.4_Missense_Mutation_p.N146S|NAALAD2_ENST00000375944.3_Missense_Mutation_p.N146S	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	146					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATGTTACAAATATTGTGCCA	0.328																																						uc001pdf.3																			0				pancreas(1)|skin(1)	2						c.(436-438)AAT>AGT		N-acetylated alpha-linked acidic dipeptidase 2							89.0	91.0	90.0					11																	89882229		2199	4290	6489	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89882229A>G	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.437A>G	11.37:g.89882229A>G	ENSP00000432481:p.Asn146Ser					NAALAD2_uc009yvx.2_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.2_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.2_Missense_Mutation_p.N146S	p.N146S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			4	546	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	146			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.437A>G	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634062	0.29068	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.37	4.24	0.50183	.	0.494876	0.20690	N	0.087470	T	0.28499	0.0705	L	0.28458	0.855	0.34585	D	0.714837	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.27971	-1.0058	9	.	.	.	-9.6137	9.2428	0.37506	0.8537:0.0:0.1463:0.0	.	146;146;146;146;146	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	S	146;146;146;146;92	ENSP00000432481:N146S;ENSP00000320083:N146S;ENSP00000435249:N146S;ENSP00000365111:N146S;ENSP00000435670:N92S	.	N	+	2	0	NAALAD2	89521877	0.994000	0.37717	0.998000	0.56505	0.977000	0.68977	2.210000	0.42816	0.884000	0.36064	0.451000	0.29950	AAT		0.328	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
CLSTN3	9746	broad.mit.edu	37	12	7310162	7310162	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:7310162C>T	ENST00000266546.6	+	17	3055	c.2605C>T	c.(2605-2607)Cgc>Tgc	p.R869C	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.R881C	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	869					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCCTGGTGCGCATCCATTC	0.657																																						uc001qsr.2																			0				large_intestine(1)	1						c.(2605-2607)CGC>TGC		calsyntenin 3 precursor							70.0	59.0	63.0					12																	7310162		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7310162C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2605C>T	12.37:g.7310162C>T	ENSP00000266546:p.Arg869Cys					CLSTN3_uc001qss.2_Missense_Mutation_p.R881C|CLSTN3_uc001qst.2_Missense_Mutation_p.R277C	p.R869C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			17	2883	+			869			Cytoplasmic (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2605C>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982974	0.74474	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39406	1.08;1.08	4.72	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.99;0.999	T	0.71196	-0.4664	10	0.87932	D	0	-28.1793	14.6025	0.68450	0.1471:0.8529:0.0:0.0	.	211;881;869	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	C	869;881	ENSP00000266546:R869C;ENSP00000440679:R881C	ENSP00000266546:R869C	R	+	1	0	CLSTN3	7201429	1.000000	0.71417	0.997000	0.53966	0.506000	0.33950	4.765000	0.62271	1.319000	0.45190	0.462000	0.41574	CGC		0.657	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
PPFIBP1	8496	broad.mit.edu	37	12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:27841316C>T	ENST00000318304.8	+	25	2757	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	825	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473																																						uc001ric.1																		PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(2473-2475)GCG>GTG		PTPRF interacting protein binding protein 1							249.0	241.0	244.0					12																	27841316		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841316C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2474C>T	12.37:g.27841316C>T	ENSP00000314724:p.Ala825Val					PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.1_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.2_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.1_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.1_Missense_Mutation_p.A332V	p.A825V	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			25	2851	+	Lung SC(9;0.0873)		825			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2474C>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.485176|5.485176	0.96323|0.96323	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	D;D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95;-1.95|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.33959|.	U|.	0.004396|.	D|D	0.84356|0.84356	0.5454|0.5454	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.972;1.0|.	D|D	0.86957|0.86957	0.2089|0.2089	10|5	0.66056|.	D|.	0.02|.	-13.8284|-13.8284	18.5085|18.5085	0.90907|0.90907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;656;825;819;794|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|C	656;672;825;794;819|56	ENSP00000444304:A656V;ENSP00000445425:A672V;ENSP00000314724:A825V;ENSP00000443442:A794V;ENSP00000228425:A819V|.	ENSP00000228425:A819V|.	A|R	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27732583|27732583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.716000|7.716000	0.84723|0.84723	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	
SLC38A4	55089	broad.mit.edu	37	12	47163175	47163175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:47163175G>A	ENST00000447411.1	-	14	1542	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	SLC38A4_ENST00000266579.4_Nonsense_Mutation_p.R446*	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	446					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGAAGGGTCGTTTGGGAAAT	0.363																																						uc001rpi.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1336-1338)CGA>TGA		solute carrier family 38, member 4							143.0	133.0	136.0					12																	47163175		2203	4300	6503	SO:0001587	stop_gained	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163175G>A	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1336C>T	12.37:g.47163175G>A	ENSP00000389843:p.Arg446*					SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			15	1735	-	Lung SC(27;0.192)|Renal(347;0.236)		446			Cytoplasmic (Potential).		A8K553	Nonsense_Mutation	SNP	ENST00000447411.1	37	c.1336C>T	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	42	9.731944	0.99249	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	.	.	.	5.66	4.51	0.55191	.	0.217160	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.5079	13.115	0.59295	0.0:0.0:0.1342:0.8657	.	.	.	.	X	446	.	ENSP00000266579:R446X	R	-	1	2	SLC38A4	45449442	1.000000	0.71417	0.984000	0.44739	0.938000	0.57974	2.866000	0.48420	0.976000	0.38417	-0.546000	0.04227	CGA		0.363	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
DNAJC22	79962	broad.mit.edu	37	12	49745175	49745175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:49745175C>T	ENST00000549441.2	+	4	2120	c.916C>T	c.(916-918)Cca>Tca	p.P306S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P306S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	306	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGTCTGGCACCCAGACCACAA	0.522																																						uc001rua.2																			0				ovary(1)	1						c.(916-918)CCA>TCA		DnaJ (Hsp40) homolog, subfamily C, member 22							63.0	64.0	64.0					12																	49745175		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49745175C>T	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.916C>T	12.37:g.49745175C>T	ENSP00000446830:p.Pro306Ser					DNAJC22_uc001rub.2_Missense_Mutation_p.P306S	p.P306S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN			3	1317	+			306			J.		B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.916C>T	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922988	0.92319	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	D;D	0.89875	-2.58;-2.58	5.44	5.44	0.79542	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97432	1.0016	10	0.87932	D	0	-12.1723	16.7976	0.85606	0.0:1.0:0.0:0.0	.	306	Q8N4W6	DJC22_HUMAN	S	306	ENSP00000446830:P306S;ENSP00000378508:P306S	ENSP00000378508:P306S	P	+	1	0	DNAJC22	48031442	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.910000	0.75741	2.833000	0.97629	0.555000	0.69702	CCA		0.522	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902	
MAP3K12	7786	broad.mit.edu	37	12	53895818	53895818	+	5'Flank	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:53895818G>A	ENST00000267079.2	-	0	0				TARBP2_ENST00000266987.2_Missense_Mutation_p.A25T|TARBP2_ENST00000456234.2_Missense_Mutation_p.A4T|MAP3K12_ENST00000547488.1_5'Flank|MAP3K12_ENST00000547151.1_5'Flank|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000394357.2_Missense_Mutation_p.A4T|RP11-793H13.11_ENST00000602306.1_RNA	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AATGCTGGCCGCCAACCCAGG	0.592																																						uc001sdo.2																			0				central_nervous_system(1)	1						c.(73-75)GCC>ACC		TAR RNA binding protein 2 isoform a							90.0	79.0	83.0					12																	53895818		2203	4300	6503	SO:0001631	upstream_gene_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53895818G>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895818G>A	Exception_encountered					MAP3K12_uc001sdm.1_5'Flank|MAP3K12_uc001sdn.1_5'Flank|TARBP2_uc009znb.2_Missense_Mutation_p.A25T|TARBP2_uc001sdp.2_Missense_Mutation_p.A4T|TARBP2_uc001sdq.2_Intron|TARBP2_uc001sdr.2_5'UTR|TARBP2_uc001sds.2_Missense_Mutation_p.A25T|TARBP2_uc001sdt.2_Missense_Mutation_p.A4T|TARBP2_uc001sdu.2_5'UTR|TARBP2_uc001sdv.2_RNA	p.A25T	NM_134323	NP_599150	Q15633	TRBP2_HUMAN			2	561	+			25			Sufficient for interaction with PRKRA.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.73G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919088	0.52546	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000549610;ENST00000394357	T;T;T	0.66099	-0.14;-0.19;-0.19	4.09	4.09	0.47781	.	0.141443	0.46758	D	0.000261	T	0.33469	0.0864	N	0.08118	0	0.31403	N	0.676477	B;B;B	0.30824	0.296;0.091;0.027	B;B;B	0.19148	0.024;0.017;0.007	T	0.33574	-0.9863	10	0.14252	T	0.57	-4.2863	9.5508	0.39308	0.0:0.0:0.6699:0.3301	.	25;25;25	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	T	25;4;25;4	ENSP00000266987:A25T;ENSP00000416077:A4T;ENSP00000377885:A4T	ENSP00000266987:A25T	A	+	1	0	TARBP2	52182085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.774000	0.55341	2.286000	0.76751	0.467000	0.42956	GCC		0.592	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
CCDC63	160762	broad.mit.edu	37	12	111322003	111322003	+	Silent	SNP	G	G	A	rs549200490	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:111322003G>A	ENST00000308208.5	+	8	1265	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_ENST00000545036.1_Silent_p.T301T|CCDC63_ENST00000552694.1_Silent_p.T262T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20757	0.002		0.0	False		,,,				2504	0.0					uc001trv.1																			0				skin(6)|ovary(1)|pancreas(1)	8						c.(1021-1023)ACG>ACA		coiled-coil domain containing 63							114.0	105.0	108.0					12																	111322003		2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111322003G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1023G>A	12.37:g.111322003G>A						CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	p.T341T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			8	1218	+			341			Potential.		B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1023G>A	CCDS9151.1																																																																																				0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
OASL	8638	broad.mit.edu	37	12	121469372	121469372	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:121469372A>G	ENST00000257570.5	-	3	800	c.530T>C	c.(529-531)cTg>cCg	p.L177P	OASL_ENST00000339275.5_Missense_Mutation_p.L177P	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	177					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGATCAGGCTCACATA	0.552																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				skin(1)	1						c.(529-531)CTG>CCG		2'-5'-oligoadenylate synthetase-like isoform a							75.0	73.0	74.0					12																	121469372		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121469372A>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.530T>C	12.37:g.121469372A>G	ENSP00000257570:p.Leu177Pro					OASL_uc001tzk.1_Missense_Mutation_p.L177P	p.L177P	NM_003733	NP_003724	Q15646	OASL_HUMAN			3	536	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		177					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.530T>C	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.155543|4.155543	0.78114|0.78114	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000257570;ENST00000339275|ENST00000543677	T;T|.	0.60424|.	0.19;0.19|.	5.52|5.52	5.52|5.52	0.82312|0.82312	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.223479|.	0.22936|.	N|.	0.053857|.	T|.	0.78091|.	0.4229|.	M|M	0.87971|0.87971	2.92|2.92	0.48288|0.48288	D|D	0.999625|0.999625	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|.	0.81127|.	-0.1074|.	10|.	0.87932|.	D|.	0|.	-19.449|-19.449	11.9555|11.9555	0.52978|0.52978	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	177;177|.	Q15646-2;Q15646|.	.;OASL_HUMAN|.	P|R	177|75	ENSP00000257570:L177P;ENSP00000341125:L177P|.	ENSP00000257570:L177P|.	L|X	-|-	2|1	0|0	OASL|OASL	119953755|119953755	1.000000|1.000000	0.71417|0.71417	0.759000|0.759000	0.31340|0.31340	0.361000|0.361000	0.29550|0.29550	5.225000|5.225000	0.65294|0.65294	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	CTG|TGA		0.552	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
RIMBP2	23504	broad.mit.edu	37	12	130934752	130934752	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:130934752G>A	ENST00000261655.4	-	6	686	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMBP2_ENST00000536002.1_Missense_Mutation_p.R83C|RIMBP2_ENST00000535703.1_Missense_Mutation_p.R83C	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	175	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATAGCGGGCAACACAG	0.552																																						uc001uil.2																			0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(523-525)CGC>TGC		RIM-binding protein 2							159.0	130.0	140.0					12																	130934752		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130934752G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.523C>T	12.37:g.130934752G>A	ENSP00000261655:p.Arg175Cys					RIMBP2_uc001uim.2_Missense_Mutation_p.R83C	p.R175C	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	6	687	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	175			SH3 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.523C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459516	0.84317	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.30182	1.54;1.54;1.54	4.02	4.02	0.46733	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	M	0.62016	1.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.931;0.999	T	0.56153	-0.8026	10	0.62326	D	0.03	-27.6761	14.3555	0.66735	0.0:0.0:1.0:0.0	.	83;175	O15034-2;O15034	.;RIMB2_HUMAN	C	175;83;83;83	ENSP00000261655:R175C;ENSP00000440347:R83C;ENSP00000439159:R83C	ENSP00000261655:R175C	R	-	1	0	RIMBP2	129500705	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.221000	0.78016	1.783000	0.52377	0.555000	0.69702	CGC		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
USPL1	10208	broad.mit.edu	37	13	31232152	31232152	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:31232152A>G	ENST00000255304.4	+	9	2280	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	646					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCTTATTCAAGACCAATTTG	0.343																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2																			0				pancreas(2)|skin(1)	3						c.(1936-1938)CAA>CAG		ubiquitin specific peptidase like 1							69.0	68.0	68.0					13																	31232152		2203	4299	6502	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31232152A>G	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1938A>G	13.37:g.31232152A>G						USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	p.Q646Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2370	+		Lung SC(185;0.0257)|Breast(139;0.203)	646					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.1938A>G	CCDS9336.1																																																																																				0.343	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
THSD1	55901	broad.mit.edu	37	13	52951899	52951899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:52951899T>C	ENST00000258613.4	-	5	2384	c.2206A>G	c.(2206-2208)Agg>Ggg	p.R736G	THSD1_ENST00000544466.1_Missense_Mutation_p.R357G|THSD1_ENST00000349258.4_Missense_Mutation_p.R683G	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	736					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTGGTTTCCTCAAGGGCTGC	0.552																																						uc001vgo.2																			0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2206-2208)AGG>GGG		thrombospondin type I domain-containing 1							100.0	102.0	101.0					13																	52951899		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52951899T>C	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2206A>G	13.37:g.52951899T>C	ENSP00000258613:p.Arg736Gly					THSD1_uc001vgp.2_Missense_Mutation_p.R683G|THSD1_uc010tgz.1_Missense_Mutation_p.R357G|THSD1_uc010aea.2_Missense_Mutation_p.R197G	p.R736G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2751	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	736			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.2206A>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.253735	0.22965	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.32515	2.18;1.45;2.36	5.18	4.01	0.46588	.	0.314197	0.35124	N	0.003433	T	0.28732	0.0712	L	0.53249	1.67	0.30409	N	0.779225	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.0	T	0.23084	-1.0198	10	0.56958	D	0.05	-14.7539	10.1945	0.43045	0.0:0.0786:0.0:0.9214	.	683;736	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	G	683;357;736	ENSP00000340650:R683G;ENSP00000438512:R357G;ENSP00000258613:R736G	ENSP00000258613:R736G	R	-	1	2	THSD1	51849900	0.000000	0.05858	0.174000	0.22961	0.522000	0.34438	0.465000	0.22004	0.929000	0.37192	0.411000	0.27672	AGG		0.552	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A	rs199609364		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr14:21216002G>A	ENST00000326842.2	+	2	390	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	88					sperm displacement (GO:0007321)	extracellular space (GO:0005615)		p.R88Q(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453																																						uc001vyb.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(262-264)CGA>CAA		human epididymis-specific 3 alpha precursor							92.0	87.0	88.0					14																	21216002		2203	4300	6503	SO:0001583	missense	10876				sperm displacement	extracellular space		g.chr14:21216002G>A	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.263G>A	14.37:g.21216002G>A	ENSP00000315098:p.Arg88Gln					EDDM3A_uc001vyc.2_Missense_Mutation_p.R88Q	p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN			2	330	+			88					Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	c.263G>A	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414936	0.62511	.	.	ENSG00000181562	ENST00000326842	T	0.72942	-0.7	1.9	-1.58	0.08479	Ribonuclease A, domain (2);	0.326372	0.22269	N	0.062285	T	0.55689	0.1936	L	0.55481	1.735	0.09310	N	1	P	0.51449	0.945	B	0.39904	0.313	T	0.54437	-0.8294	10	0.62326	D	0.03	.	4.1624	0.10291	0.1685:0.4439:0.3876:0.0	.	88	Q14507	EP3A_HUMAN	Q	88	ENSP00000315098:R88Q	ENSP00000315098:R88Q	R	+	2	0	EDDM3A	20285842	0.001000	0.12720	0.000000	0.03702	0.556000	0.35491	0.142000	0.16096	-0.447000	0.07138	0.313000	0.20887	CGA		0.453	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3		
MKRN3	7681	broad.mit.edu	37	15	23811039	23811039	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:23811039C>A	ENST00000314520.3	+	1	586	c.110C>A	c.(109-111)cCc>cAc	p.P37H	MKRN3_ENST00000564592.1_Missense_Mutation_p.P37H|MKRN3_ENST00000568252.1_Missense_Mutation_p.P37H|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	37					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCTGTGAGCCCTCCGGGGAA	0.687																																						uc001ywh.3																			0				lung(6)|large_intestine(2)|ovary(2)	10						c.(109-111)CCC>CAC		makorin ring finger protein 3							33.0	39.0	37.0					15																	23811039		2202	4299	6501	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811039C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.110C>A	15.37:g.23811039C>A	ENSP00000313881:p.Pro37His					MKRN3_uc001ywi.2_Missense_Mutation_p.P37H|MKRN3_uc010ayi.1_Missense_Mutation_p.P37H	p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	586	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	37						Missense_Mutation	SNP	ENST00000314520.3	37	c.110C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	11.48	1.651616	0.29336	.	.	ENSG00000179455	ENST00000314520	T	0.32515	1.45	3.22	-2.16	0.07080	.	0.395622	0.20338	U	0.094298	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P;P	0.52463	0.953;0.804	B;B	0.40982	0.345;0.187	T	0.28138	-1.0053	10	0.48119	T	0.1	.	4.0807	0.09924	0.0:0.4022:0.1797:0.4181	.	37;37	Q6NSB6;Q13064	.;MKRN3_HUMAN	H	37	ENSP00000313881:P37H	ENSP00000313881:P37H	P	+	2	0	MKRN3	21362132	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.907000	0.04067	-0.484000	0.06763	0.563000	0.77884	CCC		0.687	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
TMOD2	29767	broad.mit.edu	37	15	52075020	52075020	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:52075020G>C	ENST00000249700.4	+	7	948	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	TMOD2_ENST00000539962.2_Missense_Mutation_p.A199P|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	243					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGACCCTGTGGCCATTGTGAG	0.398																																						uc002abk.2																			0				ovary(2)	2						c.(727-729)GCC>CCC		neuronal tropomodulin isoform a							95.0	100.0	98.0					15																	52075020		2195	4293	6488	SO:0001583	missense	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52075020G>C	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.727G>C	15.37:g.52075020G>C	ENSP00000249700:p.Ala243Pro					TMOD2_uc002abl.3_Intron|TMOD2_uc010bfb.2_Missense_Mutation_p.A199P	p.A243P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	7	948	+			243					B4DEW6	Missense_Mutation	SNP	ENST00000249700.4	37	c.727G>C	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137953	0.94517	.	.	ENSG00000128872	ENST00000249700;ENST00000539962	T;T	0.24350	1.86;1.86	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79990	-0.1570	10	0.87932	D	0	-17.4147	19.4568	0.94895	0.0:0.0:1.0:0.0	.	243	Q9NZR1	TMOD2_HUMAN	P	243;199	ENSP00000249700:A243P;ENSP00000437743:A199P	ENSP00000249700:A243P	A	+	1	0	TMOD2	49862312	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.869000	0.92326	2.832000	0.97577	0.655000	0.94253	GCC		0.398	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2		
FSD2	123722	broad.mit.edu	37	15	83455346	83455346	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:83455346T>C	ENST00000334574.8	-	3	833	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	FSD2_ENST00000541889.1_Missense_Mutation_p.K218E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	218										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TACATGTTTTTGTGAATTTCA	0.363																																						uc002bjd.2																			0				central_nervous_system(1)	1						c.(652-654)AAA>GAA		fibronectin type III and SPRY domain containing							130.0	115.0	119.0					15																	83455346		1845	4102	5947	SO:0001583	missense	123722							g.chr15:83455346T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.652A>G	15.37:g.83455346T>C	ENSP00000335651:p.Lys218Glu					FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	p.K218E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			3	819	-			218			Potential.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.652A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983195	0.53827	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.20598	2.06;2.06	5.63	5.63	0.86233	.	0.168219	0.51477	D	0.000087	T	0.30510	0.0767	L	0.39633	1.23	0.29377	N	0.863607	B;D	0.69078	0.264;0.997	B;P	0.58970	0.171;0.849	T	0.10428	-1.0630	10	0.13470	T	0.59	-28.9091	15.0511	0.71872	0.0:0.0:0.0:1.0	.	218;218	B7ZM02;A1L4K1	.;FSD2_HUMAN	E	218	ENSP00000335651:K218E;ENSP00000444078:K218E	ENSP00000335651:K218E	K	-	1	0	FSD2	81252400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.752000	0.62176	2.145000	0.66743	0.533000	0.62120	AAA		0.363	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
PDE8A	5151	broad.mit.edu	37	15	85664158	85664158	+	Missense_Mutation	SNP	C	C	G	rs144501404	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:85664158C>G	ENST00000310298.4	+	19	2117	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	PDE8A_ENST00000394553.1_Missense_Mutation_p.T622S|PDE8A_ENST00000339708.5_Missense_Mutation_p.T576S|PDE8A_ENST00000557957.1_Missense_Mutation_p.T550S			O60658	PDE8A_HUMAN	phosphodiesterase 8A	622	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TACAATGACACTGCTGTGCTG	0.483																																						uc002blh.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1864-1866)ACT>AGT		phosphodiesterase 8A isoform 1							128.0	103.0	111.0					15																	85664158		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85664158C>G	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1865C>G	15.37:g.85664158C>G	ENSP00000311453:p.Thr622Ser					PDE8A_uc002bli.2_Missense_Mutation_p.T576S|PDE8A_uc010bnc.2_Missense_Mutation_p.T375S|PDE8A_uc010bnd.2_Missense_Mutation_p.T375S|PDE8A_uc002blj.2_Missense_Mutation_p.T242S|PDE8A_uc002blk.2_Missense_Mutation_p.T242S|PDE8A_uc002bll.2_5'UTR	p.T622S	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		18	2054	+	Colorectal(223;0.227)		622			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1865C>G	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	5.230	0.227890	0.09916	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.80566	-1.39;-1.39;-1.39	5.44	-6.82	0.01698	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.544756	0.20978	N	0.082264	T	0.61135	0.2323	N	0.21373	0.66	0.22787	N	0.998734	B;B	0.23806	0.021;0.091	B;B	0.23150	0.028;0.044	T	0.38265	-0.9669	10	0.40728	T	0.16	.	10.0861	0.42419	0.0:0.3022:0.0984:0.5994	.	576;622	O60658-2;O60658	.;PDE8A_HUMAN	S	622;622;576	ENSP00000311453:T622S;ENSP00000378056:T622S;ENSP00000340679:T576S	ENSP00000311453:T622S	T	+	2	0	PDE8A	83465162	0.079000	0.21365	0.000000	0.03702	0.031000	0.12232	0.573000	0.23699	-1.895000	0.01104	-1.105000	0.02106	ACT		0.483	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
PCSK6	5046	broad.mit.edu	37	15	101853660	101853660	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:101853660C>T	ENST00000348070.1	-	21	2616	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.D860N	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	874	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567																																						uc002bwy.2																			0				pancreas(2)	2						c.(2620-2622)GAC>AAC		paired basic amino acid cleaving system 4							68.0	72.0	71.0					15																	101853660		2016	4187	6203	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101853660C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2617G>A	15.37:g.101853660C>T	ENSP00000305056:p.Asp873Asn					PCSK6_uc010bpd.2_Missense_Mutation_p.D670N|PCSK6_uc010bpe.2_Missense_Mutation_p.D861N|PCSK6_uc002bxa.2_Missense_Mutation_p.D874N|PCSK6_uc002bxb.2_Missense_Mutation_p.D861N	p.D874N	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	2934	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		874			CRM (Cys-rich motif).		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.2620G>A		.	.	.	.	.	.	.	.	.	.	C	16.34	3.096925	0.56075	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.61980	0.06;0.06	5.77	5.77	0.91146	Growth factor, receptor (1);	0.298399	0.36234	N	0.002709	T	0.57961	0.2089	N	0.11724	0.165	0.80722	D	1	P;D;D;P;B	0.67145	0.923;0.996;0.991;0.453;0.205	B;P;P;B;B	0.55871	0.165;0.642;0.786;0.103;0.033	T	0.55490	-0.8133	10	0.21540	T	0.41	-58.7307	17.4774	0.87662	0.0:1.0:0.0:0.0	.	874;705;861;874;860	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	N	873;860;704	ENSP00000305056:D873N;ENSP00000351193:D860N	ENSP00000305056:D873N	D	-	1	0	PCSK6	99671183	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.147000	0.58078	2.726000	0.93360	0.655000	0.94253	GAC		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
SRCAP	10847	broad.mit.edu	37	16	30748891	30748894	+	Frame_Shift_Del	DEL	TCAT	TCAT	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:30748891_30748894delTCAT	ENST00000262518.4	+	34	7915_7918	c.7530_7533delTCAT	c.(7528-7533)gctcatfs	p.AH2510fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.AH2352fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.AH2448fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2510	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ctccaccagctcatacaccgcctc	0.564																																						uc002dze.1																			0				ovary(3)|skin(1)	4						c.(7528-7533)GCTCATfs		Snf2-related CBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748891_30748894delTCAT	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7530_7533delTCAT	16.37:g.30748891_30748894delTCAT	ENSP00000262518:p.Ala2510fs					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	p.A2510fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7915_7918	+			2510_2511			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	c.7530_7533delTCAT	CCDS10689.2																																																																																				0.564	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
CNTNAP4	85445	broad.mit.edu	37	16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:76461484G>A	ENST00000476707.1	+	3	674	c.535G>A	c.(535-537)Gga>Aga	p.G179R	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G151R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G175R|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G175R			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	176					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398																																						uc002feu.1																			0				ovary(1)|pancreas(1)	2						c.(526-528)GGA>AGA		cell recognition protein CASPR4 isoform 1							95.0	87.0	90.0					16																	76461484		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76461484G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.535G>A	16.37:g.76461484G>A	ENSP00000417628:p.Gly179Arg					CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R|CNTNAP4_uc002fex.1_Missense_Mutation_p.G179R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R	p.G176R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			6	911	+			176			Extracellular (Potential).|F5/8 type C.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.526G>A		.	.	.	.	.	.	.	.	.	.	G	28.9	4.961496	0.92791	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57	4.98	4.98	0.66077	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.37761	N	0.001952	D	0.99426	0.9797	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.997	D	0.98829	1.0750	9	0.87932	D	0	.	18.4254	0.90607	0.0:0.0:1.0:0.0	.	151;179;151;176	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	R	175;175;151;179	ENSP00000306893:G175R;ENSP00000439733:G175R;ENSP00000418741:G151R;ENSP00000417628:G179R	ENSP00000306893:G175R	G	+	1	0	CNTNAP4	75018985	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.514000	0.98013	2.765000	0.95021	0.655000	0.94253	GGA		0.398	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ADAMTS18	170692	broad.mit.edu	37	16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:77389861C>T	ENST00000282849.5	-	9	1854	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	479	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R479H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488																																						uc002ffc.3																			1	Substitution - Missense(1)		ovary(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1435-1437)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							106.0	95.0	99.0					16																	77389861		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77389861C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1436G>A	16.37:g.77389861C>T	ENSP00000282849:p.Arg479His					ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_RNA	p.R479H	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			9	1855	-			479			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1436G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000140873	ENST00000282849	T	0.08720	3.06	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.89163	3.01	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.36212	-0.9757	10	0.87932	D	0	.	13.4679	0.61266	0.0:0.9246:0.0:0.0754	.	479;479	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	H	479	ENSP00000282849:R479H	ENSP00000282849:R479H	R	-	2	0	ADAMTS18	75947362	1.000000	0.71417	0.910000	0.35882	0.335000	0.28730	5.859000	0.69539	1.561000	0.49584	0.655000	0.94253	CGC		0.488	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
KRT38	8687	broad.mit.edu	37	17	39593695	39593695	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr17:39593695C>T	ENST00000246646.3	-	7	1339	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	447	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGGCTCCACAGGTGGGCCC	0.612																																						uc002hwq.1																			0				skin(2)	2						c.(1339-1341)TGT>TAT		keratin 38							21.0	21.0	21.0					17																	39593695		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39593695C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1340G>A	17.37:g.39593695C>T	ENSP00000246646:p.Cys447Tyr						p.C447Y	NM_006771	NP_006762	O76015	KRT38_HUMAN			7	1763	-		Breast(137;0.000496)	447			Tail.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.1340G>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	8.276	0.814410	0.16607	.	.	ENSG00000171360	ENST00000246646	D	0.82167	-1.58	2.25	1.26	0.21427	.	0.263218	0.27147	N	0.020720	T	0.62109	0.2401	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.30716	0.119	T	0.56117	-0.8032	10	0.56958	D	0.05	.	4.9632	0.14078	0.0:0.8211:0.0:0.1789	.	447	O76015	KRT38_HUMAN	Y	447	ENSP00000246646:C447Y	ENSP00000246646:C447Y	C	-	2	0	KRT38	36847221	0.021000	0.18746	0.028000	0.17463	0.018000	0.09664	0.370000	0.20433	0.526000	0.28541	0.555000	0.69702	TGT		0.612	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
DNM2	1785	broad.mit.edu	37	19	10887808	10887808	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:10887808G>A	ENST00000355667.6	+	5	684	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	DNM2_ENST00000314646.5_Missense_Mutation_p.G202S|DNM2_ENST00000389253.4_Missense_Mutation_p.G202S|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Missense_Mutation_p.G202S|DNM2_ENST00000585892.1_Missense_Mutation_p.G202S|DNM2_ENST00000359692.6_Missense_Mutation_p.G202S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	202	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGGACCATCGGTGTCATCAC	0.597			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(604-606)GGT>AGT		dynamin 2 isoform 2							102.0	88.0	93.0					19																	10887808		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10887808G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.604G>A	19.37:g.10887808G>A	ENSP00000347890:p.Gly202Ser					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.G202S|DNM2_uc002mpv.1_Missense_Mutation_p.G202S|DNM2_uc002mpu.1_Missense_Mutation_p.G202S|DNM2_uc010dxl.1_Missense_Mutation_p.G202S	p.G202S	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		5	768	+			202					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.604G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364356	0.95877	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	4.94	4.94	0.65067	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.99312	4.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	D	0.98650	1.0679	10	0.87932	D	0	-15.8066	16.9491	0.86239	0.0:0.0:1.0:0.0	.	202;202;202;202	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	S	191;202;202;202;202;202	ENSP00000386192:G202S;ENSP00000347890:G202S;ENSP00000352721:G202S;ENSP00000373905:G202S;ENSP00000313164:G202S	ENSP00000313164:G202S	G	+	1	0	DNM2	10748808	1.000000	0.71417	0.984000	0.44739	0.957000	0.61999	9.756000	0.98918	2.286000	0.76751	0.561000	0.74099	GGT		0.597	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
CILP2	148113	broad.mit.edu	37	19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:19654993G>A	ENST00000291495.5	+	8	1724	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CILP2_ENST00000586018.1_Missense_Mutation_p.V553M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	547						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622																																						uc002nmv.3																			0				ovary(1)	1						c.(1639-1641)GTG>ATG		cartilage intermediate layer protein 2							64.0	68.0	67.0					19																	19654993		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654993G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1639G>A	19.37:g.19654993G>A	ENSP00000291495:p.Val547Met					CILP2_uc002nmw.3_Missense_Mutation_p.V553M	p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	1724	+			547					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1639G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634166	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.078660	0.52532	D	0.000075	T	0.63988	0.2558	M	0.64404	1.975	0.41635	D	0.989045	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.68743	-0.5328	10	0.72032	D	0.01	-21.0925	13.1452	0.59456	0.0:0.0:1.0:0.0	.	547;547	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	547	ENSP00000291495:V547M	ENSP00000291495:V547M	V	+	1	0	CILP2	19515993	1.000000	0.71417	0.830000	0.32933	0.769000	0.43574	4.248000	0.58760	1.662000	0.50781	0.430000	0.28490	GTG		0.622	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
ZNF701	55762	broad.mit.edu	37	19	53085986	53085986	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:53085986A>G	ENST00000540331.1	+	5	1097	c.872A>G	c.(871-873)aAt>aGt	p.N291S	ZNF701_ENST00000391785.3_Missense_Mutation_p.N225S|ZNF701_ENST00000301093.2_Missense_Mutation_p.N291S|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	291					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(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGCCTTTAATGGTAGCTCA	0.368																																					NSCLC(89;451 1475 9611 20673 52284)	uc002pzs.1																			0					0						c.(673-675)AAT>AGT		zinc finger protein 701							62.0	67.0	65.0					19																	53085986		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085986A>G	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.872A>G	19.37:g.53085986A>G	ENSP00000444339:p.Asn291Ser					ZNF701_uc010ydn.1_Missense_Mutation_p.N291S	p.N225S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	4	801	+			225					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.674A>G	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	3.256	-0.152168	0.06585	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.13420	2.59;2.59;2.59	1.75	-1.96	0.07525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	N	0.05467	-0.045	0.09310	N	1	P;D	0.63880	0.835;0.993	P;D	0.68192	0.495;0.956	T	0.26052	-1.0114	9	0.15952	T	0.53	.	6.5431	0.22390	0.5092:0.0:0.4908:0.0	.	291;225	F5GZM6;Q9NV72	.;ZN701_HUMAN	S	225;291;291	ENSP00000375662:N225S;ENSP00000301093:N291S;ENSP00000444339:N291S	ENSP00000301093:N291S	N	+	2	0	ZNF701	57777798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.332000	0.00509	-0.460000	0.07003	-0.475000	0.04921	AAT		0.368	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
LILRB2	10288	broad.mit.edu	37	19	54782295	54782295	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:54782295C>T	ENST00000391749.4	-	7	1348	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Silent_p.A243A|LILRB2_ENST00000391748.1_Silent_p.A359A|LILRB2_ENST00000314446.5_Silent_p.A359A|LILRB2_ENST00000391746.1_Silent_p.A359A	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	359	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGCTCCCGCCTTGGTCA	0.572																																						uc002qfb.2																			0				skin(1)	1						c.(1075-1077)GCG>GCA		leukocyte immunoglobulin-like receptor,							133.0	133.0	133.0					19																	54782295		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782295C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1077G>A	19.37:g.54782295C>T						LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.A359A|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.A359A|LILRB2_uc010yet.1_Silent_p.A243A|LILRB2_uc010yeu.1_RNA	p.A359A	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	1343	-	Ovarian(34;0.19)		359			Extracellular (Potential).|Ig-like C2-type 4.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1077G>A	CCDS12886.1																																																																																				0.572	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
ZSCAN18	65982	broad.mit.edu	37	19	58601319	58601319	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:58601319G>A	ENST00000240727.6	-	2	715	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R106W|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R162W	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCCAGGGCCGGACCTTATCA	0.647																																						uc002qri.2																			0					0						c.(316-318)CGG>TGG		zinc finger and SCAN domain containing 18							68.0	69.0	69.0					19																	58601319		2203	4300	6503	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58601319G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.316C>T	19.37:g.58601319G>A	ENSP00000240727:p.Arg106Trp					ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc010yht.1_Missense_Mutation_p.R162W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	p.R106W	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	2	625	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	106			SCAN box.		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.316C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190787	0.58017	.	.	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.05199	3.48	3.53	3.53	0.40419	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.29916	N	0.010869	T	0.22859	0.0552	M	0.79123	2.44	0.35588	D	0.806802	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.99;0.986;0.997;0.993	T	0.19679	-1.0298	10	0.87932	D	0	-16.6412	10.7628	0.46274	0.0:0.0:1.0:0.0	.	162;176;106;106	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	W	162;106	ENSP00000240727:R106W	ENSP00000240727:R106W	R	-	1	2	ZSCAN18	63293131	0.003000	0.15002	0.038000	0.18304	0.928000	0.56348	0.943000	0.29030	2.010000	0.58986	0.561000	0.74099	CGG		0.647	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
MFSD9	84804	broad.mit.edu	37	2	103335600	103335600	+	Missense_Mutation	SNP	C	C	T	rs372925047		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:103335600C>T	ENST00000258436.5	-	6	747	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATGGGTCTTTCGCAATGGCAG	0.567																																						uc002tcb.2																			0				ovary(2)|breast(2)	4						c.(703-705)CGA>CAA		major facilitator superfamily domain containing		C	GLN/ARG	0,4406		0,0,2203	104.0	103.0	103.0		704	-1.0	0.0	2		103	2,8598	2.2+/-6.3	0,2,4298	no	missense	MFSD9	NM_032718.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	235/475	103335600	2,13004	2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335600C>T		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.704G>A	2.37:g.103335600C>T	ENSP00000258436:p.Arg235Gln					MFSD9_uc010fja.2_RNA	p.R235Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			6	772	-			235					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.704G>A	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561553	0.13498	0.0	2.33E-4	ENSG00000135953	ENST00000258436	T	0.59083	0.29	4.97	-0.991	0.10235	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.199940	0.05557	N	0.568473	T	0.23926	0.0579	N	0.01874	-0.695	0.09310	N	1	B	0.20261	0.043	B	0.14578	0.011	T	0.08166	-1.0735	10	0.14252	T	0.57	-28.6151	1.3425	0.02157	0.1433:0.3075:0.1408:0.4083	.	235	Q8NBP5	MFSD9_HUMAN	Q	235	ENSP00000258436:R235Q	ENSP00000258436:R235Q	R	-	2	0	MFSD9	102702032	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.671000	0.05250	-0.432000	0.07297	-0.147000	0.13772	CGA		0.567	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
SLC5A7	60482	broad.mit.edu	37	2	108626880	108626880	+	Missense_Mutation	SNP	G	G	A	rs148535388		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:108626880G>A	ENST00000264047.2	+	9	1582	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V331M|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V436M	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	436					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATGGGGCCGTGGCAGGTTA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16339	0.0		0.0	False		,,,				2504	0.0					uc002tdv.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1306-1308)GTG>ATG		solute carrier family 5 (choline transporter),	Choline(DB00122)	G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	163.0	148.0	153.0		1306	2.8	0.0	2	dbSNP_134	153	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC5A7	NM_021815.2	21	0,7,6496	AA,AG,GG		0.0349,0.0908,0.0538	benign	436/581	108626880	7,12999	2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626880G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1306G>A	2.37:g.108626880G>A	ENSP00000264047:p.Val436Met					SLC5A7_uc010ywm.1_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.2_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.1_Missense_Mutation_p.V323M	p.V436M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			9	1582	+			436			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1306G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766672	0.31228	9.08E-4	3.49E-4	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.86865	-2.18;-2.18;-2.18	5.95	2.78	0.32641	.	0.429548	0.26800	N	0.022422	D	0.85080	0.5615	M	0.65498	2.005	0.21527	N	0.999653	B	0.20164	0.042	B	0.28849	0.095	T	0.77744	-0.2473	10	0.56958	D	0.05	-3.946	9.4998	0.39011	0.3257:0.0:0.6743:0.0	.	436	Q9GZV3	SC5A7_HUMAN	M	436;331;436	ENSP00000387346:V436M;ENSP00000445351:V331M;ENSP00000264047:V436M	ENSP00000264047:V436M	V	+	1	0	SLC5A7	107993312	1.000000	0.71417	0.014000	0.15608	0.959000	0.62525	3.839000	0.55835	0.866000	0.35629	-0.145000	0.13849	GTG		0.488	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
ZRANB3	84083	broad.mit.edu	37	2	135958008	135958008	+	Silent	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:135958008T>C	ENST00000264159.6	-	21	3260	c.3144A>G	c.(3142-3144)agA>agG	p.R1048R	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Silent_p.R1046R|ZRANB3_ENST00000536680.1_Silent_p.R1046R	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1048	Endonuclease activity.|HNH.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTGGCAGTTCTCTAAAAGT	0.363																																						uc002tum.2																			0				lung(2)	2						c.(3142-3144)AGA>AGG		zinc finger, RAN-binding domain containing 3							99.0	88.0	92.0					2																	135958008		1841	4099	5940	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135958008T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3144A>G	2.37:g.135958008T>C						ZRANB3_uc002tuk.2_Silent_p.R591R|ZRANB3_uc002tul.2_Silent_p.R1046R	p.R1048R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	21	3261	-			1048					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.3144A>G	CCDS46419.1																																																																																				0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
CWC22	57703	broad.mit.edu	37	2	180810270	180810270	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:180810270A>G	ENST00000410053.3	-	20	2612	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	CWC22_ENST00000295749.6_Silent_p.N771N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	771					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AACCACTTGAATTTTGATCTC	0.378																																						uc010frh.1																			0					0						c.(2311-2313)AAT>AAC		CWC22 spliceosome-associated protein homolog							204.0	190.0	195.0					2																	180810270		1846	4105	5951	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810270A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2313T>C	2.37:g.180810270A>G						CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN			20	2613	-			771					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2313T>C	CCDS46465.1																																																																																				0.378	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
FAM134A	79137	broad.mit.edu	37	2	220046109	220046109	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:220046109C>T	ENST00000430297.2	+	7	939	c.803C>T	c.(802-804)gCa>gTa	p.A268V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	268						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAATGCACCCCCAGGA	0.547																																						uc002vjw.3																			0				ovary(1)|central_nervous_system(1)	2						c.(802-804)GCA>GTA		hypothetical protein LOC79137							64.0	65.0	65.0					2																	220046109		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046109C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.803C>T	2.37:g.220046109C>T	ENSP00000395249:p.Ala268Val					FAM134A_uc010fwc.2_Missense_Mutation_p.A61V|FAM134A_uc002vjx.2_Missense_Mutation_p.A61V	p.A268V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	939	+		Renal(207;0.0915)	268					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.803C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	9.240	1.038005	0.19669	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.45276	0.9;1.45	4.94	1.41	0.22369	.	0.593958	0.17566	N	0.169652	T	0.27241	0.0668	L	0.51422	1.61	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.17167	-1.0378	10	0.21014	T	0.42	8.2305	0.189	0.00132	0.2829:0.2612:0.145:0.311	.	61;268	E7EUL4;Q8NC44	.;F134A_HUMAN	V	61;268;61;61	ENSP00000403898:A61V;ENSP00000395249:A268V	ENSP00000395249:A268V	A	+	2	0	FAM134A	219754353	0.779000	0.28652	0.100000	0.21137	0.565000	0.35776	1.714000	0.37961	0.193000	0.20303	-0.345000	0.07892	GCA		0.547	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293	
PAX3	5077	broad.mit.edu	37	2	223161799	223161799	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:223161799C>T	ENST00000350526.4	-	2	355	c.219G>A	c.(217-219)tcG>tcA	p.S73S	PAX3_ENST00000258387.5_Silent_p.S73S|PAX3_ENST00000336840.6_Silent_p.S73S|PAX3_ENST00000344493.4_Silent_p.S73S|PAX3_ENST00000392069.2_Silent_p.S73S|PAX3_ENST00000409551.3_Silent_p.S73S|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392070.2_Silent_p.S73S|PAX3_ENST00000409828.3_Silent_p.S73S	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	73	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		S -> L (in WS1). {ECO:0000269|PubMed:10779847}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|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 somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGCGCGAGATGACGC	0.647			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	0				soft_tissue(761)|ovary(4)|skin(1)	766						c.(217-219)TCG>TCA		paired box 3 isoform PAX3							38.0	36.0	37.0					2																	223161799		2203	4300	6503	SO:0001819	synonymous_variant	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223161799C>T		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.219G>A	2.37:g.223161799C>T						PAX3_uc002vmt.1_Silent_p.S73S|PAX3_uc002vmy.1_Silent_p.S73S|PAX3_uc002vmv.1_Silent_p.S73S|PAX3_uc002vmw.1_Silent_p.S73S|PAX3_uc002vmx.1_Silent_p.S73S|PAX3_uc002vmz.1_Silent_p.S73S|PAX3_uc002vna.1_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	p.S73S	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	585	-		Renal(207;0.0183)	73		S -> L (in WS1).	Paired.		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	c.219G>A	CCDS42826.1																																																																																				0.647	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
COL4A4	1286	broad.mit.edu	37	2	227922184	227922184	+	Missense_Mutation	SNP	G	G	A	rs199562472		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:227922184G>A	ENST00000396625.3	-	29	2723	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P839L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	839	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGGAGTCCCGGTTGCCCTGG	0.537																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2515-2517)CCG>CTG		alpha 4 type IV collagen precursor							33.0	35.0	34.0					2																	227922184		1877	4113	5990	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227922184G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2516C>T	2.37:g.227922184G>A	ENSP00000379866:p.Pro839Leu						p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	29	3170	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	839			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2516C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	1.757	-0.487704	0.04352	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94046	-3.34;-3.34	5.82	5.82	0.92795	.	.	.	.	.	D	0.93145	0.7817	M	0.84082	2.675	0.20403	N	0.999905	P	0.52577	0.954	B	0.40659	0.336	D	0.88791	0.3278	9	0.33940	T	0.23	.	14.633	0.68671	0.0:0.1453:0.8547:0.0	.	839	P53420	CO4A4_HUMAN	L	839	ENSP00000379866:P839L;ENSP00000328553:P839L	ENSP00000328553:P839L	P	-	2	0	COL4A4	227630428	1.000000	0.71417	0.070000	0.20053	0.382000	0.30200	4.122000	0.57910	2.760000	0.94817	0.655000	0.94253	CCG		0.537	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
FRG1B	284802	broad.mit.edu	37	20	29625952	29625952	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:29625952C>A	ENST00000278882.3	+	5	576	c.196C>A	c.(196-198)Cca>Aca	p.P66T	FRG1B_ENST00000439954.2_Missense_Mutation_p.P71T|FRG1B_ENST00000358464.4_Missense_Mutation_p.P66T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	66										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCAATTGGACCAAGAGAACA	0.343																																						uc010ztl.1																			0					0						c.(106-108)CCA>ACA		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625952C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.196C>A	20.37:g.29625952C>A	ENSP00000278882:p.Pro66Thr					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.P36T							2	138	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.106C>A		.	.	.	.	.	.	.	.	.	.	c	0.020	-1.446133	0.01089	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46819	0.86	1.68	0.7	0.18099	.	0.194616	0.47093	D	0.000251	T	0.30696	0.0773	.	.	.	0.24451	N	0.994484	B	0.06786	0.001	B	0.19391	0.025	T	0.17623	-1.0363	9	0.54805	T	0.06	.	4.0616	0.09841	0.2707:0.4633:0.2661:0.0	.	71	F5H5R5	.	T	66;71;66	ENSP00000408863:P71T	ENSP00000278882:P66T	P	+	1	0	FRG1B	28239613	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	2.271000	0.43364	0.274000	0.22072	-1.276000	0.01395	CCA		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
MATN4	8785	broad.mit.edu	37	20	43933173	43933173	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:43933173G>A	ENST00000372754.1	-	2	346	c.338C>T	c.(337-339)aCg>aTg	p.T113M	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.T113M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.T113M|MATN4_ENST00000353917.5_Missense_Mutation_p.T113M|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000372756.1_Missense_Mutation_p.T113M|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.T113M			O95460	MATN4_HUMAN	matrilin 4	113	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCAGTCCCGTCATGGTGCC	0.667																																						uc002xnn.2																			0					0						c.(337-339)ACG>ATG		matrilin 4 isoform 1 precursor							20.0	17.0	18.0					20																	43933173		2199	4295	6494	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933173G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.338C>T	20.37:g.43933173G>A	ENSP00000361840:p.Thr113Met					MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.T113M	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	525	-		Myeloproliferative disorder(115;0.0122)	113			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.338C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.368949	0.82463	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	4.81	3.86	0.44501	.	0.174005	0.28247	N	0.016058	D	0.95156	0.8430	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	0.98;1.0;1.0	B;D;D	0.97110	0.392;1.0;0.999	D	0.95800	0.8832	10	0.87932	D	0	.	12.2207	0.54433	0.0825:0.0:0.9175:0.0	.	113;113;113	A6NNA4;O95460-4;O95460-2	.;.;.	M	113	ENSP00000361840:T113M;ENSP00000361842:T113M;ENSP00000243983:T113M;ENSP00000353819:T113M;ENSP00000343164:T113M;ENSP00000440328:T113M	ENSP00000255132:T113M	T	-	2	0	MATN4	43366587	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	9.578000	0.98200	1.256000	0.44068	0.462000	0.41574	ACG		0.667	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
MC3R	4159	broad.mit.edu	37	20	54824649	54824649	+	Silent	SNP	G	G	C	rs139424256		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:54824649G>C	ENST00000243911.2	+	1	862	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	250					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGGCGTGTTCATCTTCT	0.597																																						uc002xxb.2																			0				ovary(2)|breast(2)	4						c.(748-750)GTG>GTC		melanocortin 3 receptor							267.0	178.0	208.0					20																	54824649		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824649G>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.750G>C	20.37:g.54824649G>C							p.V250V	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	862	+			287			Helical; Name=6; (Potential).		Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.750G>C	CCDS13449.2																																																																																				0.597	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
RTFDC1	51507	broad.mit.edu	37	20	55093243	55093243	+	Silent	SNP	C	C	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:55093243C>G	ENST00000023939.4	+	9	950	c.843C>G	c.(841-843)ctC>ctG	p.L281L	GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000357348.5_Silent_p.L311L|RTFDC1_ENST00000395881.3_3'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	281																	ACAAGTCCCTCTTTACCACTC	0.577																																						uc002xxt.2																			0				ovary(1)	1						c.(841-843)CTC>CTG		hypothetical protein LOC51507							76.0	80.0	78.0					20																	55093243		2203	4300	6503	SO:0001819	synonymous_variant	51507							g.chr20:55093243C>G	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.843C>G	20.37:g.55093243C>G						C20orf43_uc010zzf.1_Silent_p.L311L|C20orf43_uc002xxu.2_Silent_p.L280L|C20orf43_uc002xxv.2_3'UTR|GCNT7_uc010zzg.1_Intron	p.L281L	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Colorectal(105;0.202)		9	950	+			281					E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Silent	SNP	ENST00000023939.4	37	c.843C>G	CCDS13453.1																																																																																				0.577	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407	
IFNAR2	3455	broad.mit.edu	37	21	34625094	34625094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:34625094C>T	ENST00000342136.4	+	7	994	c.668C>T	c.(667-669)tCt>tTt	p.S223F	IFNAR2_ENST00000413881.1_Missense_Mutation_p.S151F|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S223F|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S223F|AP000295.9_ENST00000433395.2_Missense_Mutation_p.L131F|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S223F|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S223F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	223					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GTAATAAAGTCTCCCTTAAAA	0.373																																						uc002yrd.2																			0					0						c.(667-669)TCT>TTT		interferon alpha/beta receptor 2 isoform a	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						119.0	105.0	110.0					21																	34625094		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34625094C>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.668C>T	21.37:g.34625094C>T	ENSP00000343957:p.Ser223Phe					IFNAR2_uc002yrb.2_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.2_Missense_Mutation_p.S223F|IFNAR2_uc002yre.2_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.2_Missense_Mutation_p.S223F|IFNAR2_uc002yrg.2_Missense_Mutation_p.S92F|IL10RB_uc002yrh.1_Missense_Mutation_p.S73F|IL10RB_uc002yri.1_5'UTR	p.S223F	NM_207585	NP_997468	P48551	INAR2_HUMAN			7	996	+			223			Extracellular (Potential).		A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.668C>T	CCDS13621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.696402|2.696402	0.48202|0.48202	.|.	.|.	ENSG00000249624|ENSG00000159110	ENST00000433395|ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073	.|T;T;T;T;T;T;T	.|0.77489	.|-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.13|4.13	4.13|4.13	0.48395|0.48395	.|Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	.|0.182425	.|0.49916	.|D	.|0.000131	D|D	0.84660|0.84660	0.5521|0.5521	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	0.999995|0.999995	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	T|T	0.75169|0.75169	-0.3412|-0.3412	5|9	.|.	.|.	.|.	.|.	12.1737|12.1737	0.54173|0.54173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|223;223;223	.|P48551-3;P48551;P48551-2	.|.;INAR2_HUMAN;.	F|F	131|223;223;223;223;223;151;151	.|ENSP00000371699:S223F;ENSP00000384309:S223F;ENSP00000371676:S223F;ENSP00000343957:S223F;ENSP00000343289:S223F;ENSP00000413160:S151F;ENSP00000403569:S151F	.|.	L|S	+|+	1|2	0|0	AP000295.9|IFNAR2	33546964|33546964	0.012000|0.012000	0.17670|0.17670	0.008000|0.008000	0.14137|0.14137	0.022000|0.022000	0.10575|0.10575	2.947000|2.947000	0.49058|0.49058	2.582000|2.582000	0.87167|0.87167	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.373	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1		
TRPM2	7226	broad.mit.edu	37	21	45859043	45859043	+	Missense_Mutation	SNP	G	G	A	rs142254503	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45859043G>A	ENST00000397928.1	+	30	4706	c.4261G>A	c.(4261-4263)Ggc>Agc	p.G1421S	TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471S|TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367S|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421S|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000581669.1_RNA|snoZ6_ENST00000583496.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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)			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						GCTGAAGTGCGGCATGGAGGT	0.602													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18167	0.0		0.0	False		,,,				2504	0.0					uc002zet.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4261-4263)GGC>AGC		transient receptor potential cation channel,		G	SER/GLY	3,4403	6.2+/-15.9	0,3,2200	141.0	89.0	107.0		4261	3.5	0.0	21	dbSNP_134	107	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	1421/1504	45859043	3,13003	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45859043G>A	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.4261G>A	21.37:g.45859043G>A	ENSP00000381023:p.Gly1421Ser					TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc010gpt.1_Missense_Mutation_p.G1471S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S|TRPM2_uc011aff.1_Missense_Mutation_p.G102S	p.G1421S	NM_003307	NP_003298	O94759	TRPM2_HUMAN			31	4474	+			1421			Nudix hydrolase.|Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4261G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213433	0.58452	6.81E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.57107	0.58;0.58;0.55;0.42	4.33	3.45	0.39498	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.000000	0.64402	D	0.000001	T	0.66973	0.2844	M	0.69463	2.115	0.23909	N	0.996491	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.57522	-0.7797	10	0.62326	D	0.03	-24.2278	9.7195	0.40295	0.1018:0.0:0.8981:0.0	.	102;1471;1207;1421	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	S	1421;1421;1367;1471;165	ENSP00000300482:G1421S;ENSP00000381023:G1421S;ENSP00000300481:G1367S;ENSP00000381026:G1471S	ENSP00000300481:G1367S	G	+	1	0	TRPM2	44683471	0.990000	0.36364	0.017000	0.16124	0.002000	0.02628	5.074000	0.64401	0.960000	0.38005	-0.373000	0.07131	GGC		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TSPEAR	54084	broad.mit.edu	37	21	45948411	45948411	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45948411G>A	ENST00000323084.4	-	6	911	c.846C>T	c.(844-846)gaC>gaT	p.D282D	TSPEAR_ENST00000397916.1_Silent_p.D214D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	282					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGAACTGGGCGTCTTCCACCT	0.607																																						uc002zfe.1																			0					0						c.(844-846)GAC>GAT		chromosome 21 open reading frame 29 precursor							142.0	118.0	126.0					21																	45948411		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45948411G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.846C>T	21.37:g.45948411G>A						C21orf29_uc010gpv.1_Silent_p.D214D	p.D282D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			6	912	-			282						Silent	SNP	ENST00000323084.4	37	c.846C>T	CCDS13712.1																																																																																				0.607	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																						uc002zwc.1																			0				ovary(2)	2						c.(1198-1200)GAA>AAA		zinc finger protein 280B							117.0	111.0	113.0					22																	22842526		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys					LOC96610_uc011aim.1_Intron	p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	400						Missense_Mutation	SNP	ENST00000406426.1	37	c.1198G>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
MOV10L1	54456	broad.mit.edu	37	22	50596602	50596602	+	Silent	SNP	C	C	T	rs371398149		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:50596602C>T	ENST00000262794.5	+	23	3266	c.3183C>T	c.(3181-3183)agC>agT	p.S1061S	MOV10L1_ENST00000395858.3_Silent_p.S1061S|MOV10L1_ENST00000395852.1_Silent_p.S188S|MOV10L1_ENST00000395843.1_Silent_p.S104S|MOV10L1_ENST00000545383.1_Silent_p.S1061S|MOV10L1_ENST00000540615.1_Silent_p.S1041S|MOV10L1_ENST00000354853.2_Silent_p.S104S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1061					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCTGCCAGCGACATTGGCG	0.652																																						uc003bjj.2																			0				ovary(2)|skin(1)	3						c.(3181-3183)AGC>AGT		MOV10-like 1 isoform 1		C	,,,	0,4406		0,0,2203	74.0	64.0	68.0		3183,3123,564,3183	-2.0	0.0	22		68	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1061/1166,1041/1166,188/339,1061/1212	50596602	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596602C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3183C>T	22.37:g.50596602C>T						MOV10L1_uc003bjk.3_Silent_p.S1061S|MOV10L1_uc011arp.1_Silent_p.S1041S|MOV10L1_uc003bjl.2_Silent_p.S188S|MOV10L1_uc003bjm.1_Silent_p.S104S	p.S1061S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	23	3266	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1061					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.3183C>T	CCDS14084.1																																																																																				0.652	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
CNTN4	152330	broad.mit.edu	37	3	2787313	2787313	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:2787313C>T	ENST00000397461.1	+	5	674	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CNTN4_ENST00000418658.1_Missense_Mutation_p.T97M|CNTN4_ENST00000427331.1_Missense_Mutation_p.T97M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	97	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATGCTGGAACGTACCAGTGC	0.408																																						uc003bpc.2																			0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(289-291)ACG>ATG		contactin 4 isoform a precursor							168.0	156.0	160.0					3																	2787313		1919	4136	6055	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2787313C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.290C>T	3.37:g.2787313C>T	ENSP00000380602:p.Thr97Met					CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	p.T97M	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	5	511	+		Ovarian(110;0.156)	97			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.290C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879143	0.17395	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.81	4.04	0.47022	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528419	0.20568	N	0.089800	T	0.58352	0.2116	L	0.41632	1.29	0.44871	D	0.997882	B;B	0.29988	0.264;0.154	B;B	0.33890	0.172;0.122	T	0.53129	-0.8482	10	0.36615	T	0.2	.	11.3901	0.49809	0.0:0.8005:0.0:0.1995	.	97;97	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	97;97;97;115;97	ENSP00000408594:T97M;ENSP00000396010:T97M;ENSP00000380602:T97M;ENSP00000404085:T115M;ENSP00000413642:T97M	ENSP00000380602:T97M	T	+	2	0	CNTN4	2762313	0.014000	0.17966	0.494000	0.27515	0.722000	0.41435	0.295000	0.19065	0.811000	0.34303	0.655000	0.94253	ACG		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CHST13	166012	broad.mit.edu	37	3	126260762	126260762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:126260762G>A	ENST00000319340.2	+	3	417	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	123					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGAAGCGCGTGCTGCTGGC	0.716																																						uc003eja.2																			0				central_nervous_system(1)	1						c.(367-369)GTG>ATG		carbohydrate sulfotransferase 13							23.0	17.0	19.0					3																	126260762		2195	4283	6478	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260762G>A	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.367G>A	3.37:g.126260762G>A	ENSP00000317404:p.Val123Met						p.V123M	NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	367	+			123			Lumenal (Potential).		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.367G>A	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656815	0.88154	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.75589	-0.95	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90942	0.4798	10	0.87932	D	0	-8.6502	15.4253	0.75045	0.0:0.0:1.0:0.0	.	123	Q8NET6	CHSTD_HUMAN	M	123	ENSP00000317404:V123M	ENSP00000317404:V123M	V	+	1	0	CHST13	127743452	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.453000	0.80700	2.227000	0.72691	0.491000	0.48974	GTG		0.716	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
ECE2	9718	broad.mit.edu	37	3	184009860	184009860	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:184009860C>T	ENST00000402825.3	+	19	2486	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	ECE2_ENST00000357474.5_Missense_Mutation_p.S757L|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.S711L|ECE2_ENST00000359140.4_Missense_Mutation_p.S682L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	829	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGTGCTCGGTCCGCACA	0.647																																						uc003fni.3																			0				ovary(2)|skin(2)	4						c.(2485-2487)TCG>TTG		endothelin converting enzyme 2 isoform A							35.0	37.0	36.0					3																	184009860		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184009860C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2486C>T	3.37:g.184009860C>T	ENSP00000384223:p.Ser829Leu					ECE2_uc003fnl.3_Missense_Mutation_p.S757L|ECE2_uc003fnm.3_Missense_Mutation_p.S711L|ECE2_uc003fnk.3_Missense_Mutation_p.S682L	p.S829L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	2524	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		829			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2486C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808250	0.90707	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.91693	0.7374	M	0.88704	2.975	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;0.999;0.999	P;D;P;D	0.68483	0.687;0.958;0.897;0.95	D	0.92402	0.5930	10	0.51188	T	0.08	-10.3397	15.5139	0.75806	0.0:1.0:0.0:0.0	.	711;757;682;829	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	L	829;682;711;757	ENSP00000384223:S829L;ENSP00000352052:S682L;ENSP00000385846:S711L;ENSP00000350066:S757L	ENSP00000350066:S757L	S	+	2	0	ECE2	185492554	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.065000	0.71176	2.515000	0.84797	0.491000	0.48974	TCG		0.647	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
PDE6B	5158	broad.mit.edu	37	4	619767	619767	+	Missense_Mutation	SNP	G	G	A	rs201253138	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:619767G>A	ENST00000496514.1	+	1	373	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PDE6B_ENST00000255622.6_Missense_Mutation_p.V118I			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	118	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCCGGACAGCGTCCTGGAGGA	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		17019	0.003		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	uc003gap.2																			0					0						c.(352-354)GTC>ATC		phosphodiesterase 6B isoform 1							16.0	14.0	15.0					4																	619767		2194	4294	6488	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:619767G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.352G>A	4.37:g.619767G>A	ENSP00000420295:p.Val118Ile					PDE6B_uc003gao.3_Missense_Mutation_p.V118I	p.V118I	NM_000283	NP_000274	P35913	PDE6B_HUMAN			1	405	+			118			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.352G>A	CCDS33932.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.56	1.973278	0.34848	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.69306	-0.39;-0.39	4.98	-2.89	0.05665	GAF (2);	1.261530	0.05543	N	0.566072	T	0.52773	0.1755	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.40040	-0.9584	10	0.42905	T	0.14	.	6.5924	0.22654	0.6019:0.1953:0.2028:0.0	.	118;118	P35913;P35913-2	PDE6B_HUMAN;.	I	118	ENSP00000255622:V118I;ENSP00000420295:V118I	ENSP00000255622:V118I	V	+	1	0	PDE6B	609767	0.000000	0.05858	0.000000	0.03702	0.960000	0.62799	-0.128000	0.10531	-0.457000	0.07033	-0.258000	0.10820	GTC		0.657	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283	
AASDH	132949	broad.mit.edu	37	4	57237647	57237647	+	Silent	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:57237647G>C	ENST00000205214.6	-	5	1011	c.831C>G	c.(829-831)ctC>ctG	p.L277L	AASDH_ENST00000513376.1_Silent_p.L177L|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Silent_p.L277L|AASDH_ENST00000602986.1_Silent_p.L124L|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Silent_p.L277L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	277					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GATGGGAAAAGAGAACGCTGG	0.353																																						uc003hbn.2																			0				ovary(4)	4						c.(829-831)CTC>CTG		aminoadipate-semialdehyde dehydrogenase							89.0	83.0	85.0					4																	57237647		2203	4300	6503	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57237647G>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.831C>G	4.37:g.57237647G>C						AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.L124L|AASDH_uc003hbo.2_Silent_p.L177L|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.L277L|AASDH_uc003hbp.2_Silent_p.L277L	p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			5	984	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	277					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.831C>G	CCDS3504.1																																																																																				0.353	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
FRG1	2483	broad.mit.edu	37	4	190876274	190876274	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:190876274C>A	ENST00000226798.4	+	5	622	c.400C>A	c.(400-402)Cca>Aca	p.P134T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	134					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358																																						uc003izs.2																			0					0						c.(400-402)CCA>ACA		FSHD region gene 1							90.0	90.0	90.0					4																	190876274		2203	4300	6503	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876274C>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.400C>A	4.37:g.190876274C>A	ENSP00000226798:p.Pro134Thr						p.P134T	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	591	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	134					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.400C>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.845	1.192173	0.21954	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.48522	1.79;0.81	4.04	4.04	0.47022	Actin cross-linking (1);	0.168316	0.56097	D	0.000034	T	0.43545	0.1252	L	0.47016	1.485	0.38129	D	0.938087	B	0.26147	0.143	B	0.34346	0.18	T	0.50482	-0.8823	10	0.51188	T	0.08	-20.035	10.2736	0.43497	0.0:0.7978:0.2022:0.0	.	134	Q14331	FRG1_HUMAN	T	134;71	ENSP00000226798:P134T;ENSP00000435943:P71T	ENSP00000226798:P134T	P	+	1	0	FRG1	191113268	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.544000	0.53640	1.964000	0.57103	0.567000	0.79289	CCA		0.358	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
PRDM9	56979	broad.mit.edu	37	5	23527430	23527430	+	Nonsense_Mutation	SNP	G	G	T	rs200775234	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:23527430G>T	ENST00000296682.3	+	11	2415	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	745					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.582										HNSCC(3;0.000094)																												uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2233-2235)GAG>TAG		PR domain containing 9							35.0	46.0	43.0					5																	23527430		2086	4255	6341	SO:0001587	stop_gained	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527430G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2233G>T	5.37:g.23527430G>T	ENSP00000296682:p.Glu745*	HNSCC(3;0.000094)					p.E745*	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2415	+			745					B4DX22|Q27Q50	Nonsense_Mutation	SNP	ENST00000296682.3	37	c.2233G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435038	0.96150	.	.	ENSG00000164256	ENST00000296682	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1633	0.54115	0.0:0.0:1.0:0.0	.	.	.	.	X	745	.	ENSP00000296682:E745X	E	+	1	0	PRDM9	23563187	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	3.617000	0.54181	1.973000	0.57446	0.484000	0.47621	GAG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
TNFAIP8	25816	broad.mit.edu	37	5	118728680	118728680	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:118728680G>T	ENST00000503646.1	+	3	889	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TNFAIP8_ENST00000274456.6_Missense_Mutation_p.E57D|TNFAIP8_ENST00000504771.2_Missense_Mutation_p.E67D|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.E79D|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.E69D			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	67					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ACAAGAAGGAGGCAGAGAAGA	0.443																																						uc003ksh.2																			0				ovary(1)	1						c.(199-201)GAG>GAT		tumor necrosis factor, alpha-induced protein 8							68.0	65.0	66.0					5																	118728680		2020	4189	6209	SO:0001583	missense	25816				anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding	g.chr5:118728680G>T	AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.201G>T	5.37:g.118728680G>T	ENSP00000421848:p.Glu67Asp					TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.2_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.1_Missense_Mutation_p.E61D|TNFAIP8_uc003ksi.2_Missense_Mutation_p.E67D	p.E67D	NM_014350	NP_055165	O95379	TFIP8_HUMAN		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)	3	889	+		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)	67			Potential.		B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Missense_Mutation	SNP	ENST00000503646.1	37	c.201G>T	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810198	0.50421	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.34106	0.0886	L	0.59436	1.845	0.80722	D	1	B;B;B	0.21606	0.058;0.032;0.004	B;B;B	0.24701	0.055;0.042;0.011	T	0.10847	-1.0612	10	0.36615	T	0.2	-9.7704	9.9752	0.41779	0.2007:0.0:0.7993:0.0	.	79;67;57	B7Z713;O95379;O95379-3	.;TFIP8_HUMAN;.	D	57;35;79;67;67;69	ENSP00000274456:E57D;ENSP00000429432:E35D;ENSP00000427424:E79D;ENSP00000422245:E67D;ENSP00000421848:E67D;ENSP00000427160:E69D	ENSP00000274456:E57D	E	+	3	2	TNFAIP8	118756579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.748000	0.94277	0.655000	0.94253	GAG		0.443	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	NM_014350	
PCDHA1	56147	broad.mit.edu	37	5	140167119	140167119	+	Missense_Mutation	SNP	G	G	A	rs568406742		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140167119G>A	ENST00000504120.2	+	1	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R415H|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R415H	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGATCGCGAGAGCCTG	0.637													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17547	0.0		0.0	False		,,,				2504	0.0					uc003lhb.2																			0				skin(1)	1						c.(1243-1245)CGC>CAC		protocadherin alpha 1 isoform 1 precursor							126.0	122.0	124.0					5																	140167119		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167119G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1244G>A	5.37:g.140167119G>A	ENSP00000420840:p.Arg415His					PCDHA1_uc003lha.2_Missense_Mutation_p.R415H|PCDHA1_uc003lgz.2_Missense_Mutation_p.R415H	p.R415H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1244	+			415			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1244G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.057401	0.36277	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01725	4.67;4.67;4.67	4.02	3.14	0.36123	Cadherin (4);Cadherin-like (1);	0.000000	0.38720	U	0.001596	T	0.07728	0.0194	M	0.77712	2.385	0.28103	N	0.931316	D;D;D	0.67145	0.996;0.976;0.986	D;B;P	0.67103	0.949;0.307;0.534	T	0.02417	-1.1162	10	0.72032	D	0.01	.	7.862	0.29516	0.088:0.1639:0.7482:0.0	.	415;415;415	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	H	415	ENSP00000420840:R415H;ENSP00000378129:R415H;ENSP00000367373:R415H	ENSP00000367373:R415H	R	+	2	0	PCDHA1	140147303	0.984000	0.35163	0.224000	0.23877	0.002000	0.02628	5.590000	0.67530	0.823000	0.34589	-0.282000	0.10007	CGC		0.637	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHGA2	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140719024A>G	ENST00000394576.2	+	1	486	c.486A>G	c.(484-486)gtA>gtG	p.V162V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522																																						uc003ljk.1																			0				skin(2)|ovary(1)	3						c.(484-486)GTA>GTG		protocadherin gamma subfamily A, 2 isoform 1							89.0	86.0	87.0					5																	140719024		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719024A>G	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.486A>G	5.37:g.140719024A>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.V162V	p.V162V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	671	+			162			Extracellular (Potential).|Cadherin 2.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.486A>G	CCDS47289.1																																																																																				0.522	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
MGAT4B	11282	broad.mit.edu	37	5	179225986	179225986	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:179225986T>G	ENST00000292591.7	-	11	1635	c.1285A>C	c.(1285-1287)Acc>Ccc	p.T429P	MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.T444P	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	429					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGCAGGGGTGAAGGCCCAG	0.627																																					GBM(13;414 434 4098 22176 23230)	uc003mks.2																			0					0						c.(1285-1287)ACC>CCC		alpha-1,3-mannosyl-glycoprotein							114.0	109.0	111.0					5																	179225986		2203	4300	6503	SO:0001583	missense	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179225986T>G	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1285A>C	5.37:g.179225986T>G	ENSP00000292591:p.Thr429Pro					MGAT4B_uc003mkp.2_Missense_Mutation_p.T283P|MGAT4B_uc003mkq.2_Missense_Mutation_p.H204P|MGAT4B_uc003mkr.2_Missense_Mutation_p.T444P|MIR1229_hsa-mir-1229|MI0006319_5'Flank	p.T429P	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1654	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	429			Lumenal (Potential).		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	ENST00000292591.7	37	c.1285A>C	CCDS4448.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.450090|2.450090	0.43531|0.43531	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000518778;ENST00000520875|ENST00000337755;ENST00000292591;ENST00000519836	.|T;T	.|0.32988	.|1.43;1.44	4.17|4.17	3.01|3.01	0.34805|0.34805	.|.	.|0.060000	.|0.64402	.|D	.|0.000003	T|T	0.44685|0.44685	0.1305|0.1305	L|L	0.48986|0.48986	1.54|1.54	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.997;1.0;0.999	.|P;D;D	.|0.78314	.|0.879;0.963;0.991	T|T	0.19128|0.19128	-1.0315|-1.0315	5|10	.|0.42905	.|T	.|0.14	-10.3389|-10.3389	9.4809|9.4809	0.38900|0.38900	0.0:0.0843:0.0:0.9157|0.0:0.0843:0.0:0.9157	.|.	.|429;444;428	.|Q9UQ53;A8MPR0;Q9UQ53-2	.|MGT4B_HUMAN;.;.	P|P	253;209|444;429;297	.|ENSP00000338487:T444P;ENSP00000292591:T429P	.|ENSP00000292591:T429P	H|T	-|-	2|1	0|0	MGAT4B|MGAT4B	179158592|179158592	1.000000|1.000000	0.71417|0.71417	0.826000|0.826000	0.32828|0.32828	0.953000|0.953000	0.61014|0.61014	7.805000|7.805000	0.86005|0.86005	0.663000|0.663000	0.31027|0.31027	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275	
DEFB110	245913	broad.mit.edu	37	6	49976857	49976857	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:49976857G>A	ENST00000393660.2	-	2	182	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	64					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GAGTTTATACGCAGCACTGAC	0.343																																						uc011dwr.1																			0				ovary(1)	1						c.(181-183)TGC>TGT		beta-defensin 110 isoform b							157.0	147.0	150.0					6																	49976857		1885	4117	6002	SO:0001819	synonymous_variant	245913				defense response to bacterium	extracellular region		g.chr6:49976857G>A	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.183C>T	6.37:g.49976857G>A							p.C61C	NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN			2	229	-	Lung NSC(77;0.042)		64					Q30KR0	Silent	SNP	ENST00000393660.2	37	c.183C>T	CCDS43473.1																																																																																				0.343	DEFB110-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359663.1	NM_001037728	
SRSF12	135295	broad.mit.edu	37	6	89808574	89808574	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:89808574G>A	ENST00000452027.2	-	5	702	c.509C>T	c.(508-510)cCa>cTa	p.P170L		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	170	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ATTCCTTCTTGGAGTTCTTGA	0.453																																						uc003pmy.3																			0					0						c.(508-510)CCA>CTA		serine-arginine repressor protein							306.0	285.0	291.0					6																	89808574		1875	4105	5980	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808574G>A	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.509C>T	6.37:g.89808574G>A	ENSP00000414302:p.Pro170Leu						p.P170L	NM_080743	NP_542781	Q8WXF0	SRS12_HUMAN			5	703	-			170			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.509C>T	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524881	0.64747	.	.	ENSG00000154548	ENST00000452027	T	0.09723	2.95	5.13	4.24	0.50183	.	0.000000	0.56097	D	0.000040	T	0.05364	0.0142	L	0.50333	1.59	0.51233	D	0.999911	B	0.17852	0.024	B	0.15052	0.012	T	0.12837	-1.0532	10	0.29301	T	0.29	.	13.164	0.59560	0.0809:0.0:0.919:0.0	.	170	Q8WXF0	SRS12_HUMAN	L	170	ENSP00000414302:P170L	ENSP00000414302:P170L	P	-	2	0	SRSF12	89865293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.150000	0.64869	2.667000	0.90743	0.591000	0.81541	CCA		0.453	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743	
KIAA1244	57221	broad.mit.edu	37	6	138599742	138599742	+	Silent	SNP	G	G	A	rs111857517		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:138599742G>A	ENST00000251691.4	+	13	2449	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGACCCTGGCGCCAGGCGTGA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20795	0.0		0.0	False		,,,				2504	0.0					uc003qhu.2																			0				ovary(1)|skin(1)	2						c.(2281-2283)GCG>GCA		brefeldin A-inhibited guanine							82.0	70.0	74.0					6																	138599742		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138599742G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2283G>A	6.37:g.138599742G>A							p.A761A	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	13	2283	+	Breast(32;0.135)		761			SEC7.			Silent	SNP	ENST00000251691.4	37	c.2283G>A	CCDS5189.2																																																																																				0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
IGFBP3	3486	broad.mit.edu	37	7	45956872	45956872	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:45956872G>A	ENST00000275521.6	-	2	703	c.570C>T	c.(568-570)taC>taT	p.Y190Y	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Silent_p.Y93Y|IGFBP3_ENST00000381083.4_Silent_p.Y196Y	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	190					apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tns.2																			0				large_intestine(2)|lung(1)	3						c.(568-570)TAC>TAT		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						181.0	160.0	167.0					7																	45956872		2203	4300	6503	SO:0001819	synonymous_variant	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956872G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.570C>T	7.37:g.45956872G>A			OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Silent_p.Y196Y|IGFBP3_uc003tnt.2_Silent_p.Y93Y	p.Y190Y	NM_000598	NP_000589	P17936	IBP3_HUMAN			2	702	-			190					A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Silent	SNP	ENST00000275521.6	37	c.570C>T	CCDS5505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.718|7.718	0.696573|0.696573	0.15106|0.15106	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000428530	.|.	.|.	.|.	5.29|5.29	-6.09|-6.09	0.02145|0.02145	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34077	.|0.0885	.|.	.|.	.|.	0.22266|0.22266	N|N	0.999242|0.999242	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38373	.|-0.9664	.|4	.|.	.|.	.|.	-31.9254|-31.9254	13.262|13.262	0.60111|0.60111	0.7501:0.0:0.2499:0.0|0.7501:0.0:0.2499:0.0	.|.	.|.	.|.	.|.	X|M	52|42	.|.	.|.	R|T	-|-	1|2	2|0	IGFBP3|IGFBP3	45923397|45923397	0.003000|0.003000	0.15002|0.15002	0.678000|0.678000	0.29963|0.29963	0.926000|0.926000	0.56050|0.56050	-1.417000|-1.417000	0.02464|0.02464	-1.084000|-1.084000	0.03092|0.03092	-0.940000|-0.940000	0.02684|0.02684	CGA|ACG		0.502	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398	
TFPI2	7980	broad.mit.edu	37	7	93519456	93519456	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:93519456C>T	ENST00000222543.5	-	2	576	c.264G>A	c.(262-264)agG>agA	p.R88R	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Silent_p.R88R|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	88					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TACTTTCTATCCTCCAGCAAG	0.617																																						uc003umy.1																			0				pancreas(1)	1						c.(262-264)AGG>AGA		tissue factor pathway inhibitor 2 precursor							28.0	30.0	29.0					7																	93519456		2202	4300	6502	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519456C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.264G>A	7.37:g.93519456C>T						GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R|TFPI2_uc003unb.1_Silent_p.R88R|TFPI2_uc010lfg.1_Intron	p.R88R	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	339	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		88					Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.264G>A	CCDS5632.1																																																																																				0.617	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
PEG10	23089	broad.mit.edu	37	7	94293373	94293373	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:94293373C>T	ENST00000482108.1	+	2	984	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	PEG10_ENST00000488574.1_Missense_Mutation_p.R169C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	169	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTGCCAAACGCAAGATCAG	0.537																																						uc011kie.1																			0				central_nervous_system(1)	1						c.(733-735)CGC>TGC		paternally expressed 10 isoform RF1							140.0	146.0	144.0					7																	94293373		2013	4174	6187	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293373C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.505C>T	7.37:g.94293373C>T	ENSP00000417587:p.Arg169Cys						p.R245C	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	950	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		169			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.733C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109030	0.56398	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.15256	2.44;2.44	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.33059	0.0850	L	0.46157	1.445	0.36113	D	0.844909	D;D	0.89917	1.0;1.0	D;D	0.83275	0.971;0.996	T	0.33394	-0.9870	9	0.66056	D	0.02	.	11.9358	0.52872	0.0:1.0:0.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	C	169	ENSP00000417587:R169C;ENSP00000418944:R169C	ENSP00000417587:R169C	R	+	1	0	PEG10	94131309	0.881000	0.30235	0.999000	0.59377	0.922000	0.55478	1.229000	0.32600	2.276000	0.75962	0.555000	0.69702	CGC		0.537	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068	
ZYX	7791	broad.mit.edu	37	7	143080252	143080252	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143080252G>A	ENST00000322764.5	+	5	1205	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ZYX_ENST00000477373.1_3'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.G200E|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_Missense_Mutation_p.G130E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	287					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCCAGGTGGATCTGGGTCA	0.577																																						uc003wcw.2																			0					0						c.(859-861)GGA>GAA		zyxin							82.0	98.0	93.0					7																	143080252		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143080252G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.860G>A	7.37:g.143080252G>A	ENSP00000324422:p.Gly287Glu					ZYX_uc011ktd.1_Missense_Mutation_p.G130E|ZYX_uc003wcx.2_Missense_Mutation_p.G287E|ZYX_uc011kte.1_Missense_Mutation_p.G256E|ZYX_uc011ktf.1_Missense_Mutation_p.G130E	p.G287E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			5	1015	+	Melanoma(164;0.205)		287					A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.860G>A	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438149	0.43326	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.52754	0.72;0.66;0.65;0.67	3.52	2.61	0.31194	.	0.496867	0.16877	U	0.195878	T	0.53965	0.1829	M	0.67953	2.075	0.38251	D	0.941598	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.946	T	0.60100	-0.7329	10	0.10636	T	0.68	.	2.7826	0.05365	0.1077:0.1837:0.5196:0.189	.	200;287	B4DQR8;Q15942	.;ZYX_HUMAN	E	287;255;200;130	ENSP00000324422:G287E;ENSP00000346417:G255E;ENSP00000394158:G200E;ENSP00000376642:G130E	ENSP00000324422:G287E	G	+	2	0	ZYX	142790374	0.851000	0.29673	0.998000	0.56505	0.738000	0.42128	1.021000	0.30040	0.752000	0.32923	-0.175000	0.13238	GGA		0.577	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461	
EPHA1	2041	broad.mit.edu	37	7	143095154	143095154	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143095154G>A	ENST00000275815.3	-	8	1560	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q (in dbSNP:rs11768549). {ECO:0000269|PubMed:17344846}.		activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.R492W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATCTGGTACCGTTCTTCATCC	0.572																																						uc003wcz.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|lung(1)|breast(1)	5						c.(1474-1476)CGG>TGG		ephrin receptor EphA1 precursor							118.0	102.0	108.0					7																	143095154		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095154G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1474C>T	7.37:g.143095154G>A	ENSP00000275815:p.Arg492Trp						p.R492W	NM_005232	NP_005223	P21709	EPHA1_HUMAN			8	1561	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	492			Extracellular (Potential).|Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1474C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	4.133	0.022909	0.08006	.	.	ENSG00000146904	ENST00000275815	T	0.58210	0.35	4.52	-5.3	0.02738	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.240490	0.28332	N	0.015722	T	0.17619	0.0423	N	0.02011	-0.69	0.22156	N	0.999323	B	0.09022	0.002	B	0.01281	0.0	T	0.08310	-1.0728	10	0.54805	T	0.06	.	4.7865	0.13227	0.354:0.0:0.2565:0.3895	.	492	P21709	EPHA1_HUMAN	W	492	ENSP00000275815:R492W	ENSP00000275815:R492W	R	-	1	2	EPHA1	142805276	0.212000	0.23540	0.725000	0.30721	0.011000	0.07611	0.100000	0.15231	-0.742000	0.04790	-1.827000	0.00596	CGG		0.572	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
ASB10	136371	broad.mit.edu	37	7	150878355	150878355	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:150878355G>A	ENST00000420175.2	-	3	799	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ASB10_ENST00000275838.1_Missense_Mutation_p.R259C|ASB10_ENST00000377867.3_Missense_Mutation_p.R244C|ASB10_ENST00000434669.1_Missense_Mutation_p.R304C|ASB10_ENST00000422024.1_Missense_Mutation_p.R304C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	259					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTGGCAGCGGACGTCACAG	0.647																																						uc003wjm.1																			0					0						c.(910-912)CGC>TGC		ankyrin repeat and SOCS box-containing 10							34.0	35.0	35.0					7																	150878355		2203	4296	6499	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878355G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.775C>T	7.37:g.150878355G>A	ENSP00000391137:p.Arg259Cys					ASB10_uc003wjl.1_Missense_Mutation_p.R304C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	p.R304C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1036	-			259			ANK 5.		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.910C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444613	0.25987	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.70516	-0.49;-0.42;-0.44;-0.44;-0.47	5.24	1.35	0.21983	Ankyrin repeat-containing domain (3);	0.230210	0.44902	D	0.000402	T	0.67590	0.2909	L	0.29908	0.895	0.09310	N	0.999999	D;D;D	0.89917	0.999;0.999;1.0	P;P;P	0.61658	0.784;0.878;0.892	T	0.57382	-0.7821	10	0.59425	D	0.04	-4.2409	5.9781	0.19391	0.1482:0.0:0.584:0.2678	.	244;259;304	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	259;244;304;304;259	ENSP00000275838:R259C;ENSP00000367098:R244C;ENSP00000401369:R304C;ENSP00000398247:R304C;ENSP00000391137:R259C	ENSP00000275838:R259C	R	-	1	0	ASB10	150509288	0.994000	0.37717	0.082000	0.20525	0.002000	0.02628	2.160000	0.42348	0.315000	0.23110	-0.733000	0.03571	CGC		0.647	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871	
DOCK5	80005	broad.mit.edu	37	8	25250313	25250313	+	Splice_Site	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:25250313C>T	ENST00000276440.7	+	44	4486	c.4442C>T	c.(4441-4443)aCg>aTg	p.T1481M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1481	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCACCAGACGATGTGGATT	0.428																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(4441-4443)ACG>ATG		dedicator of cytokinesis 5							114.0	87.0	96.0					8																	25250313		2203	4300	6503	SO:0001630	splice_region_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25250313C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4441-1C>T	8.37:g.25250313C>T						PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.T1051M|DOCK5_uc003xej.2_RNA	p.T1481M	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4579	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1481			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4442C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480238	0.63849	.	.	ENSG00000147459	ENST00000276440	T	0.18174	2.23	5.07	4.17	0.49024	.	0.056213	0.64402	D	0.000001	T	0.31389	0.0795	L	0.53729	1.69	0.51233	D	0.999913	P;P	0.34815	0.47;0.47	P;P	0.49597	0.498;0.616	T	0.10730	-1.0617	10	0.87932	D	0	.	14.0847	0.64949	0.2729:0.7271:0.0:0.0	.	1471;1481	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	M	1481	ENSP00000276440:T1481M	ENSP00000276440:T1481M	T	+	2	0	DOCK5	25306230	0.788000	0.28762	0.999000	0.59377	0.900000	0.52787	1.578000	0.36525	1.218000	0.43458	0.650000	0.86243	ACG		0.428	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	Missense_Mutation
CPSF1	29894	broad.mit.edu	37	8	145622709	145622709	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:145622709G>A	ENST00000349769.3	-	22	2472	c.2378C>T	c.(2377-2379)aCc>aTc	p.T793I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	793					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TACCTCCATGGTGCCATTCTC	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			0				skin(1)	1						c.(2377-2379)ACC>ATC		cleavage and polyadenylation specific factor 1,							27.0	31.0	29.0					8																	145622709		2203	4297	6500	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145622709G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2378C>T	8.37:g.145622709G>A	ENSP00000339353:p.Thr793Ile						p.T793I	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		22	2453	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		793					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.2378C>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987183	0.53934	.	.	ENSG00000071894	ENST00000349769	T	0.45668	0.89	5.1	5.1	0.69264	.	0.244253	0.40908	D	0.000987	T	0.34337	0.0894	L	0.32530	0.975	0.39963	D	0.974684	B	0.06786	0.001	B	0.09377	0.004	T	0.11446	-1.0587	10	0.34782	T	0.22	-21.0657	15.9944	0.80230	0.0:0.0:1.0:0.0	.	793	Q10570	CPSF1_HUMAN	I	793	ENSP00000339353:T793I	ENSP00000339353:T793I	T	-	2	0	CPSF1	145593517	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.127000	0.64727	2.387000	0.81309	0.491000	0.48974	ACC		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	
NPR2	4882	broad.mit.edu	37	9	35808664	35808664	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr9:35808664C>T	ENST00000342694.2	+	19	3126	c.2871C>T	c.(2869-2871)cgC>cgT	p.R957R	AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	957	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.		R -> C (in AMDM). {ECO:0000269|PubMed:15146390}.		bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGGCTACGCATAGGGGTCC	0.542																																						uc003zyd.2																			0				ovary(2)|stomach(1)	3						c.(2869-2871)CGC>CGT		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						81.0	76.0	78.0					9																	35808664		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35808664C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2871C>T	9.37:g.35808664C>T						NPR2_uc010mlb.2_Silent_p.R933R|SPAG8_uc003zye.2_Intron	p.R957R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		19	2871	+	all_epithelial(49;0.161)		957		R -> C (in AMDM).	Guanylate cyclase.|Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2871C>T	CCDS6590.1																																																																																				0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
GLRA2	2742	broad.mit.edu	37	X	14599498	14599498	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:14599498C>T	ENST00000218075.4	+	4	994	c.464C>T	c.(463-465)tCg>tTg	p.S155L	GLRA2_ENST00000355020.4_Missense_Mutation_p.S155L|GLRA2_ENST00000443437.2_Missense_Mutation_p.S66L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	155					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.S155L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CTACGGATTTCGAAAAATGGC	0.453																																						uc010nep.2																			2	Substitution - Missense(2)		kidney(2)	ovary(1)|lung(1)	2						c.(463-465)TCG>TTG		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						111.0	93.0	99.0					X																	14599498		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599498C>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.464C>T	X.37:g.14599498C>T	ENSP00000218075:p.Ser155Leu					GLRA2_uc010neq.2_Missense_Mutation_p.S155L|GLRA2_uc004cwe.3_Missense_Mutation_p.S155L|GLRA2_uc011mio.1_Missense_Mutation_p.S66L|GLRA2_uc011mip.1_Missense_Mutation_p.S133L	p.S155L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			5	796	+	Hepatocellular(33;0.128)		155			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.464C>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367246	0.61513	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.067670	0.64402	D	0.000007	T	0.73353	0.3576	L	0.56769	1.78	0.47441	D	0.99942	B;B;B	0.30104	0.038;0.011;0.268	B;B;B	0.19946	0.027;0.007;0.024	T	0.69091	-0.5237	10	0.18276	T	0.48	.	11.8497	0.52405	0.0:0.9182:0.0:0.0818	.	139;155;155	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	L	66;155;155;139	ENSP00000387756:S66L;ENSP00000218075:S155L;ENSP00000347123:S155L;ENSP00000391606:S139L	ENSP00000218075:S155L	S	+	2	0	GLRA2	14509419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	2.278000	0.76064	0.600000	0.82982	TCG		0.453	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
LANCL3	347404	broad.mit.edu	37	X	37431325	37431325	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:37431325G>A	ENST00000378619.3	+	1	421	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	LANCL3_ENST00000378621.3_Missense_Mutation_p.G68S|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	68							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						GCTTTATGGCGGCGTGGCCGG	0.711																																						uc011mkd.1																			0					0						c.(202-204)GGC>AGC		LanC lantibiotic synthetase component C-like 3							5.0	6.0	5.0					X																	37431325		2056	3996	6052	SO:0001583	missense	347404						catalytic activity	g.chrX:37431325G>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.202G>A	X.37:g.37431325G>A	ENSP00000367882:p.Gly68Ser					LANCL3_uc004ddp.1_Missense_Mutation_p.G68S	p.G68S	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN			1	504	+			68					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.202G>A	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948564	0.92593	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	D;D	0.91631	-2.88;-2.88	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97967	1.0341	10	0.87932	D	0	-14.5673	16.402	0.83643	0.0:0.0:1.0:0.0	.	68;68	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	S	68	ENSP00000367885:G68S;ENSP00000367882:G68S	ENSP00000367882:G68S	G	+	1	0	LANCL3	37316244	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.371000	0.73119	1.880000	0.54463	0.476000	0.43555	GGC		0.711	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511	
MORC4	79710	broad.mit.edu	37	X	106221358	106221358	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:106221358A>T	ENST00000355610.4	-	8	1282	c.1008T>A	c.(1006-1008)caT>caA	p.H336Q	MORC4_ENST00000535534.1_Missense_Mutation_p.H84Q|MORC4_ENST00000255495.7_Missense_Mutation_p.H336Q	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	336						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTCGGTTGTTATGATACATCA	0.393																																						uc004emu.3																			0				ovary(1)	1						c.(1006-1008)CAT>CAA		zinc finger, CW type with coiled-coil domain 2							152.0	148.0	149.0					X																	106221358		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106221358A>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1008T>A	X.37:g.106221358A>T	ENSP00000347821:p.His336Gln					MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.H336Q|MORC4_uc004emw.3_Missense_Mutation_p.H84Q	p.H336Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			8	1251	-			336					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.1008T>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737418	0.69304	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.37584	2.5;1.19;2.49	4.99	0.0177	0.14113	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	M	0.92691	3.335	0.31142	N	0.70646	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.986;0.986;0.991	T	0.63985	-0.6513	10	0.87932	D	0	-14.9539	7.8864	0.29653	0.6087:0.0:0.3913:0.0	.	84;336;336	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	Q	336;84;336	ENSP00000347821:H336Q;ENSP00000440359:H84Q;ENSP00000255495:H336Q	ENSP00000255495:H336Q	H	-	3	2	MORC4	106108014	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.110000	0.41873	0.003000	0.14656	0.437000	0.28790	CAT		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
THOC2	57187	broad.mit.edu	37	X	122756613	122756613	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:122756613T>A	ENST00000245838.8	-	30	3812	c.3781A>T	c.(3781-3783)Aac>Tac	p.N1261Y	THOC2_ENST00000355725.4_Missense_Mutation_p.N1261Y|THOC2_ENST00000491737.1_Missense_Mutation_p.N1146Y|THOC2_ENST00000497887.1_5'Flank	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1261					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTACCTGTTAGAGCCACTA	0.373																																						uc004etu.2																			0				ovary(3)	3						c.(3781-3783)AAC>TAC		THO complex 2							133.0	109.0	117.0					X																	122756613		1869	4082	5951	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122756613T>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3781A>T	X.37:g.122756613T>A	ENSP00000245838:p.Asn1261Tyr					THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	p.N1261Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			30	3813	-			1261					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3781A>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.40|15.40	2.823197|2.823197	0.50739|0.50739	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	T;T;T|.	0.44482|.	0.92;0.92;0.92|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.266976|.	0.31859|.	N|.	0.006960|.	T|.	0.52208|.	0.1720|.	L|L	0.34521|0.34521	1.04|1.04	0.46774|0.46774	D|D	0.999191|0.999191	D|.	0.64830|.	0.994|.	P|.	0.58077|.	0.832|.	T|.	0.49899|.	-0.8890|.	10|.	0.54805|.	T|.	0.06|.	.|.	9.7574|9.7574	0.40510|0.40510	0.1561:0.0:0.0:0.8439|0.1561:0.0:0.0:0.8439	.|.	1261|.	Q8NI27|.	THOC2_HUMAN|.	Y|L	1261;1261;1146|355	ENSP00000245838:N1261Y;ENSP00000347959:N1261Y;ENSP00000419795:N1146Y|.	ENSP00000245838:N1261Y|.	N|X	-|-	1|2	0|2	THOC2|THOC2	122584294|122584294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.618000|5.618000	0.67722|0.67722	1.770000|1.770000	0.52166|0.52166	0.481000|0.481000	0.45027|0.45027	AAC|TAA		0.373	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	RNA	SNP	C	C	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:155254735C>G	ENST00000461007.1	+	0	3651				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587																																						uc004fnx.3																			1	Substitution - Missense(1)		kidney(1)								c.(631-633)CTC>GTC		WAS protein family homolog 1																																						0							g.chrX:155254735C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254735C>G							p.L211V	NM_182905	NP_878908					8	1085	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.631C>G		.	.	.	.	.	.	.	.	.	.	c	15.33	2.802731	0.50315	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.186044	0.48286	D	0.000191	T	0.39200	0.1069	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29822	-0.9999	6	0.72032	D	0.01	-24.1796	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	V	425;394	.	ENSP00000285718:L394V	L	+	1	0	WASH6P	154907929	1.000000	0.71417	0.841000	0.33234	0.284000	0.27059	4.956000	0.63645	0.418000	0.25898	0.171000	0.16805	CTC		0.587	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
