#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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ERICH3	127254	broad.mit.edu	37	1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	ENST00000326665.5	-	14	2728	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562																																						ENST00000326665.5																			2	Substitution - Missense(2)	p.R837M(1)|p.R837K(1)	prostate(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2509-2511)aGg>aTg		chromosome 1 open reading frame 173							98.0	93.0	94.0					1																	75038884		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038884C>A																												ENST00000326665.5:c.2510G>T	1.37:g.75038884C>A	ENSP00000322609:p.Arg837Met					C1orf173_ENST00000433746.2_5'UTR	p.R837M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2728	-			837			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2510G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021621	0.35701	.	.	ENSG00000178965	ENST00000326665	T	0.12465	2.68	5.4	-0.135	0.13477	.	.	.	.	.	T	0.02888	0.0086	N	0.22421	0.69	0.09310	N	1	P	0.45348	0.856	B	0.44163	0.443	T	0.31110	-0.9955	9	0.49607	T	0.09	0.018	1.6636	0.02797	0.2407:0.4355:0.1177:0.2061	.	837	Q5RHP9	CA173_HUMAN	M	837	ENSP00000322609:R837M	ENSP00000322609:R837M	R	-	2	0	C1orf173	74811472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.620000	0.05565	-0.033000	0.13736	0.655000	0.94253	AGG		0.562	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			21	227	21	227	---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107961230	107961230	+	Intron	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:107961230G>A	ENST00000370068.1	+	5	1933				NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370067.1_Silent_p.P372P|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.P372P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGATATGGCCGAATATTTCTT	0.368																																						ENST00000370067.1																			1	Substitution - coding silent(1)	p.P372P(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1114-1116)ccG>ccA		netrin G1							105.0	90.0	94.0					1																	107961230		1567	3581	5148	SO:0001627	intron_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107961230G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1087+10900G>A	1.37:g.107961230G>A						NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370070.2_Silent_p.P372P|NTNG1_ENST00000370066.1_Silent_p.P372P	p.P372P			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1743	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	380			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1116G>A	CCDS44180.1																																																																																				0.368	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		16	26	16	26	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	ENST00000369732.3	-	3	273	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	73					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.D73G(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428																																						ENST00000369732.3																			2	Substitution - Missense(2)	p.D73G(1)|p.D115G(1)	prostate(2)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(217-219)gAt>gGt		oviductal glycoprotein 1, 120kDa							99.0	98.0	98.0					1																	111969101		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969101T>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.218A>G	1.37:g.111969101T>C	ENSP00000358747:p.Asp73Gly					OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	p.D73G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	273	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	73					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.218A>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993756	0.74703	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.39056	1.1;3.53	4.23	4.23	0.50019	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.099968	0.64402	D	0.000003	T	0.55016	0.1894	M	0.78223	2.4	0.38790	D	0.954962	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.975	T	0.62544	-0.6832	10	0.72032	D	0.01	-13.2511	11.577	0.50866	0.0:0.0:0.0:1.0	.	73;73;115	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	G	73;115;13	ENSP00000358747:D73G;ENSP00000438449:D13G	ENSP00000358743:D115G	D	-	2	0	OVGP1	111770624	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	6.892000	0.75644	1.903000	0.55091	0.402000	0.26972	GAT		0.428	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		11	201	11	201	---	---	---	---
LCE2D	353141	broad.mit.edu	37	1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	ENST00000368784.1	+	2	207	c.152G>T	c.(151-153)aGc>aTc	p.S51I		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	51	Cys-rich.				keratinization (GO:0031424)			p.S51I(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647																																						ENST00000368784.1																			1	Substitution - Missense(1)	p.S51I(1)	prostate(1)	large_intestine(1)|lung(7)|prostate(2)	10						c.(151-153)aGc>aTc		late cornified envelope 2D							102.0	112.0	108.0					1																	152636733		2203	4300	6503	SO:0001583	missense	353141				keratinization			g.chr1:152636733G>T	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.152G>T	1.37:g.152636733G>T	ENSP00000357773:p.Ser51Ile						p.S51I	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	207	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		51			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.152G>T	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	G	0.195	-1.049957	0.01981	.	.	ENSG00000187223	ENST00000368784	T	0.03831	3.79	2.4	1.47	0.22746	.	.	.	.	.	T	0.03827	0.0108	L	0.46741	1.465	0.22389	N	0.999141	D	0.62365	0.991	D	0.68039	0.955	T	0.37314	-0.9711	9	0.16896	T	0.51	.	6.162	0.20370	0.0:0.0:0.6991:0.3009	.	51	Q5TA82	LCE2D_HUMAN	I	51	ENSP00000357773:S51I	ENSP00000357773:S51I	S	+	2	0	LCE2D	150903357	0.328000	0.24687	0.957000	0.39632	0.031000	0.12232	1.072000	0.30678	0.213000	0.20722	-0.708000	0.03648	AGC		0.647	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		109	191	109	191	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	ENST00000368130.4	-	5	1268	c.980C>T	c.(979-981)aCa>aTa	p.T327I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	327	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)	p.T327I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423																																						ENST00000368130.4																			1	Substitution - Missense(1)	p.T327I(1)	prostate(1)	breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(979-981)aCa>aTa		absent in melanoma 2							225.0	211.0	216.0					1																	159033301		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159033301G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.980C>T	1.37:g.159033301G>A	ENSP00000357112:p.Thr327Ile						p.T327I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			5	1268	-	all_hematologic(112;0.0429)		327			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.980C>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	1.709	-0.499649	0.04291	.	.	ENSG00000163568	ENST00000368130	T	0.21734	1.99	3.92	-1.79	0.07932	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	0.480132	0.15562	N	0.255884	T	0.02970	0.0088	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43163	-0.9408	10	0.23891	T	0.37	-5.3273	4.5787	0.12248	0.3091:0.0:0.3473:0.3436	.	327	O14862	AIM2_HUMAN	I	327	ENSP00000357112:T327I	ENSP00000357112:T327I	T	-	2	0	AIM2	157299925	0.006000	0.16342	0.011000	0.14972	0.147000	0.21601	-0.436000	0.06922	-0.462000	0.06984	-0.397000	0.06425	ACA		0.423	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		91	348	91	348	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	ENST00000508064.2	+	6	937	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	293	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478																																						ENST00000508064.2																			2	Substitution - Missense(2)	p.P293T(1)|p.P301T(1)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(877-879)Cca>Aca		complement component (3b/4b) receptor 1-like							158.0	152.0	154.0					1																	207870862		1900	4115	6015	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207870862C>A	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.877C>A	1.37:g.207870862C>A	ENSP00000421736:p.Pro293Thr					CR1L_ENST00000530905.1_Intron	p.P293T	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			6	937	+			293			Sushi 5.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.877C>A	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700925	0.30142	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.66995	-0.24	2.53	1.44	0.22558	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.76485	0.3994	M	0.79011	2.435	0.09310	N	1	D	0.63046	0.992	D	0.67382	0.951	T	0.61178	-0.7115	9	0.46703	T	0.11	.	5.8187	0.18516	0.3146:0.6854:0.0:0.0	.	293	Q2VPA4	CR1L_HUMAN	T	293	ENSP00000421736:P293T	ENSP00000434864:P237T	P	+	1	0	CR1L	205937485	0.000000	0.05858	0.017000	0.16124	0.082000	0.17680	0.067000	0.14510	1.411000	0.46957	0.298000	0.19748	CCA		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		110	249	110	249	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Missense_Mutation_p.L70V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	133	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279																																						ENST00000358170.2																			1	Substitution - Missense(1)	p.L133V(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(397-399)Tta>Gta		CD46 molecule, complement regulatory protein							37.0	39.0	38.0					1																	207932991		2202	4291	6493	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207932991T>G	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.397T>G	1.37:g.207932991T>G	ENSP00000350893:p.Leu133Val					CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V	p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			4	553	+			133			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.397T>G	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741614	0.30865	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.66	-7.35	0.01422	Complement control module (2);Sushi/SCR/CCP (3);	1.548440	0.04254	N	0.339122	T	0.77432	0.4129	M	0.88181	2.935	0.09310	N	1	P;B;B;P;P;P;P;B;P;B;P;P;P;D	0.53885	0.826;0.285;0.421;0.826;0.863;0.954;0.826;0.421;0.826;0.099;0.826;0.954;0.942;0.963	B;B;B;B;P;D;B;B;B;B;B;D;P;D	0.68483	0.34;0.118;0.095;0.34;0.855;0.93;0.435;0.095;0.435;0.032;0.34;0.924;0.897;0.958	T	0.72730	-0.4205	10	0.52906	T	0.07	.	0.2804	0.00244	0.3608:0.1746:0.2387:0.2259	.	133;133;133;133;133;133;133;133;133;133;133;133;133;133	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	133;133;133;133;133;133;133;70;133;133;133;133	ENSP00000350893:L133V;ENSP00000346912:L133V;ENSP00000314664:L133V;ENSP00000356009:L133V;ENSP00000356008:L133V;ENSP00000350346:L133V;ENSP00000313875:L133V;ENSP00000356014:L70V;ENSP00000413543:L133V;ENSP00000354358:L133V;ENSP00000353342:L133V;ENSP00000418471:L133V	ENSP00000313875:L133V	L	+	1	2	CD46	205999614	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-1.494000	0.02296	-1.522000	0.01769	0.482000	0.46254	TTA		0.279	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		23	45	23	45	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236760202	236760202	+	Silent	SNP	C	C	G	rs575915869		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:236760202C>G	ENST00000366582.3	-	6	792	c.678G>C	c.(676-678)tcG>tcC	p.S226S	HEATR1_ENST00000366581.2_Silent_p.S226S|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	226					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S226S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACCAGCGCCGACACTATGG	0.448																																						ENST00000366582.3																			1	Substitution - coding silent(1)	p.S226S(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(676-678)tcG>tcC		HEAT repeat containing 1							123.0	119.0	120.0					1																	236760202		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236760202C>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.678G>C	1.37:g.236760202C>G						HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.S226S	p.S226S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		6	792	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	226					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.678G>C	CCDS31066.1																																																																																				0.448	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	116	3	116	---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A|CNST_ENST00000366512.3_5'Flank|CNST_ENST00000366513.4_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	92					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.P92A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGTCTACTTGGTTTTCCCAAA	0.473																																						ENST00000366514.4																			1	Substitution - Missense(1)	p.P92A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(274-276)Cca>Gca		transcription factor B2, mitochondrial							83.0	85.0	84.0					1																	246729167		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729167G>C	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.274C>G	1.37:g.246729167G>C	ENSP00000355471:p.Pro92Ala					TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	p.P92A	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	459	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		92					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.274C>G	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647076	0.03506	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T;T	0.34859	1.34;1.34	3.97	-3.63	0.04529	.	2.356290	0.01474	N	0.016390	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.24394	0.053	T	0.19192	-1.0313	10	0.09338	T	0.73	1.9589	7.9861	0.30213	0.0:0.3744:0.2143:0.4113	.	92	Q9H5Q4	TFB2M_HUMAN	A	92	ENSP00000355471:P92A;ENSP00000442426:P92A	ENSP00000355471:P92A	P	-	1	0	TFB2M	244795790	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.410000	0.02480	-0.707000	0.05022	-0.467000	0.05162	CCA		0.473	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		3	137	3	137	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	ENST00000355784.2	-	1	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	303						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.K303N(1)	prostate(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(907-909)aaG>aaT		olfactory receptor, family 11, subfamily L, member 1							91.0	87.0	88.0					1																	248004290		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004290C>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.909G>T	1.37:g.248004290C>A	ENSP00000348033:p.Lys303Asn						p.K303N	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	964	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		303						Missense_Mutation	SNP	ENST00000355784.2	37	c.909G>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574632	0.13623	.	.	ENSG00000197591	ENST00000355784	T	0.41065	1.01	3.78	1.41	0.22369	.	0.233965	0.21140	U	0.079488	T	0.36413	0.0966	L	0.39566	1.225	0.09310	N	1	P	0.35077	0.483	B	0.42163	0.378	T	0.26292	-1.0107	10	0.56958	D	0.05	.	7.593	0.28031	0.0:0.2833:0.0:0.7167	.	303	Q8NGX0	O11L1_HUMAN	N	303	ENSP00000348033:K303N	ENSP00000348033:K303N	K	-	3	2	OR11L1	246070913	0.000000	0.05858	0.027000	0.17364	0.645000	0.38454	-0.037000	0.12164	0.182000	0.20032	-0.498000	0.04607	AAG		0.378	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		49	57	49	57	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367413	125367413	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr2:125367413C>A	ENST00000431078.1	+	12	2153	c.1789C>A	c.(1789-1791)Cag>Aag	p.Q597K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q597K(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTACAGGCACCAGGGGAATAC	0.527																																						ENST00000431078.1																			2	Substitution - Missense(2)	p.Q597K(2)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1789-1791)Cag>Aag		contactin associated protein-like 5							70.0	69.0	69.0					2																	125367413		1867	4104	5971	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367413C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1789C>A	2.37:g.125367413C>A	ENSP00000399013:p.Gln597Lys						p.Q597K	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2153	+			597			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1789C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191262	0.09547	.	.	ENSG00000155052	ENST00000431078	T	0.08807	3.05	5.55	3.41	0.39046	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.315505	0.22742	N	0.056199	T	0.04048	0.0113	N	0.05351	-0.065	0.23298	N	0.997958	B	0.02656	0.0	B	0.01281	0.0	T	0.38067	-0.9678	10	0.05959	T	0.93	.	13.8682	0.63600	0.3348:0.6651:0.0:0.0	.	597	Q8WYK1	CNTP5_HUMAN	K	597	ENSP00000399013:Q597K	ENSP00000399013:Q597K	Q	+	1	0	CNTNAP5	125083883	0.000000	0.05858	1.000000	0.80357	0.944000	0.59088	0.205000	0.17356	1.415000	0.47037	0.655000	0.94253	CAG		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			4	162	4	162	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515854	195515854	+	Missense_Mutation	SNP	G	G	A	rs368906290		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:195515854G>A	ENST00000463781.3	-	2	3056	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	871	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S866L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGACGATCGAAGACGCCAT	0.592																																						ENST00000463781.3																			1	Substitution - Missense(1)	p.S866L(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2596-2598)tCg>tTg		mucin 4, cell surface associated			,,LEU/SER	1,4181		0,1,2090	65.0	69.0	67.0		,,2597	-5.6	0.0	3		67	0,8394		0,0,4197	no	intron,intron,missense	MUC4	NM_004532.5,NM_138297.4,NM_018406.6	,,145	0,1,6287	AA,AG,GG		0.0,0.0239,0.0080	,,benign	,,866/5413	195515854	1,12575	2091	4197	6288	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515854G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2597C>T	3.37:g.195515854G>A	ENSP00000417498:p.Ser866Leu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L	p.S866L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3056	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	871			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2597C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.812	0.518997	0.13005	2.39E-4	0.0	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.47869	0.83;0.84	2.78	-5.56	0.02529	.	2.738220	0.01607	N	0.022342	T	0.26521	0.0648	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.01281	0.0;0.0	T	0.05037	-1.0910	10	0.33940	T	0.23	.	1.1141	0.01711	0.3096:0.1729:0.3482:0.1693	.	866;871	E7ESK3;Q99102	.;MUC4_HUMAN	L	866;866;840	ENSP00000417498:S866L;ENSP00000420243:S866L	ENSP00000376209:S840L	S	-	2	0	MUC4	197000249	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.282000	0.08445	-1.168000	0.02776	-0.379000	0.06801	TCG		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	54	4	54	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	ENST00000286657.4	-	7	1058	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	341	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R341T(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			2	Substitution - Missense(2)	p.R341T(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1021-1023)aGa>aCa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							200.0	186.0	191.0					4																	73186511		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186511C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1022G>C	4.37:g.73186511C>G	ENSP00000286657:p.Arg341Thr						p.R341T	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1058	-			341			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1022G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	6.338	0.430438	0.12045	.	.	ENSG00000156140	ENST00000286657	D	0.86164	-2.08	6.07	2.44	0.29823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.178187	0.47455	D	0.000237	T	0.81264	0.4786	N	0.20610	0.595	0.25069	N	0.991007	B	0.27932	0.194	B	0.43658	0.426	T	0.68116	-0.5494	10	0.16420	T	0.52	.	9.2802	0.37725	0.0:0.2005:0.0:0.7995	.	341	O15072	ATS3_HUMAN	T	341	ENSP00000286657:R341T	ENSP00000286657:R341T	R	-	2	0	ADAMTS3	73405375	0.924000	0.31332	0.996000	0.52242	0.036000	0.12997	1.436000	0.34980	0.541000	0.28827	-0.793000	0.03317	AGA		0.443	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			10	227	10	227	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52285247	52285247	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	13						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.P13P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622																																						ENST00000371068.5																			1	Substitution - coding silent(1)	p.P13P(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(37-39)ccG>ccA		EF-hand domain (C-terminal) containing 1							209.0	149.0	169.0					6																	52285247		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52285247G>A	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.39G>A	6.37:g.52285247G>A						EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	p.P13P	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			1	142	+	Lung NSC(77;0.109)		13					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.39G>A	CCDS4942.1																																																																																				0.622	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		3	72	3	72	---	---	---	---
SMPDL3A	10924	broad.mit.edu	37	6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	ENST00000368440.4	+	7	1148	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	324					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S324N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358																																						ENST00000368440.4																			1	Substitution - Missense(1)	p.S324N(1)	prostate(1)	breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(970-972)aGt>aAt		sphingomyelin phosphodiesterase, acid-like 3A							117.0	118.0	118.0					6																	123127429		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127429G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.971G>A	6.37:g.123127429G>A	ENSP00000357425:p.Ser324Asn					SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	p.S324N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1148	+			324					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.971G>A	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	5.067	0.197982	0.09652	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.85484	-1.99;-1.99	5.76	-3.55	0.04639	.	1.084690	0.06736	N	0.777442	T	0.47002	0.1422	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44877	-0.9299	10	0.02654	T	1	-0.2303	8.1448	0.31104	0.5168:0.1822:0.301:0.0	.	324	Q92484	ASM3A_HUMAN	N	324;193	ENSP00000357425:S324N;ENSP00000442152:S193N	ENSP00000357425:S324N	S	+	2	0	SMPDL3A	123169128	0.004000	0.15560	0.000000	0.03702	0.170000	0.22686	-0.223000	0.09177	-0.589000	0.05874	-1.105000	0.02106	AGT		0.358	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		14	124	14	124	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	249					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582																																						ENST00000310512.2																			1	Substitution - Missense(1)	p.H249P(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(745-747)cAt>cCt		methylphosphate capping enzyme							137.0	149.0	145.0					7																	100028387		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028387A>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.746A>C	7.37:g.100028387A>C	ENSP00000308546:p.His249Pro					MEPCE_ENST00000414441.1_5'UTR	p.H249P	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1134	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		249					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.746A>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295507	0.23564	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.49	4.49	0.54785	.	0.415949	0.23670	N	0.045729	T	0.16938	0.0407	N	0.08118	0	0.27166	N	0.961049	B	0.14012	0.009	B	0.14578	0.011	T	0.09530	-1.0670	9	0.27082	T	0.32	-16.6629	6.6157	0.22776	0.8943:0.0:0.1057:0.0	.	249	Q7L2J0	MEPCE_HUMAN	P	249	.	ENSP00000308546:H249P	H	+	2	0	MEPCE	99866323	0.999000	0.42202	0.994000	0.49952	0.978000	0.69477	4.014000	0.57145	1.895000	0.54865	0.260000	0.18958	CAT		0.582	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			18	291	18	291	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100807590C>G	ENST00000249330.2	-	2	774	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	179					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.E179Q(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCGCCGTCTCCTGCTGGCGC	0.672																																						ENST00000249330.2																			1	Substitution - Missense(1)	p.E179Q(1)	prostate(1)	cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9						c.(535-537)Gag>Cag		VGF nerve growth factor inducible							33.0	34.0	34.0					7																	100807590		2149	4219	6368	SO:0001583	missense	7425				response to cAMP	extracellular space|transport vesicle	growth factor activity	g.chr7:100807590C>G	Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.535G>C	7.37:g.100807590C>G	ENSP00000249330:p.Glu179Gln					VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN			2	774	-	Lung NSC(181;0.168)|all_lung(186;0.215)		179					Q9UDW8	Missense_Mutation	SNP	ENST00000249330.2	37	c.535G>C	CCDS5712.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501199	0.44455	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	5.09	5.09	0.68999	.	0.111853	0.35646	N	0.003063	T	0.41442	0.1159	N	0.19112	0.55	0.31043	N	0.716071	D	0.56968	0.978	P	0.53649	0.731	T	0.49428	-0.8941	9	0.87932	D	0	-10.3519	13.9824	0.64313	0.0:1.0:0.0:0.0	.	179	O15240	VGF_HUMAN	Q	179	.	ENSP00000249330:E179Q	E	-	1	0	VGF	100594310	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.435000	0.52849	2.387000	0.81309	0.561000	0.74099	GAG		0.672	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347462.1	NM_003378		3	80	3	80	---	---	---	---
KLF10	7071	broad.mit.edu	37	8	103664291	103664291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	ENST00000285407.6	-	3	571		c.e3-2		KLF10_ENST00000395884.3_Splice_Site	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10						bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	ENST00000395884.3																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18						c.e3-2		Kruppel-like factor 10							36.0	40.0	38.0					8																	103664291		2175	4284	6459	SO:0001630	splice_region_variant	7071				cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:103664291T>A	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.271-2A>T	8.37:g.103664291T>A			OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1375	KLF10_ENST00000285407.6_Splice_Site		NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)		3	1140	-	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)							A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Splice_Site	SNP	ENST00000285407.6	37		CCDS6294.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068855	0.55539	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	.	.	.	5.92	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8024	0.52135	0.0:0.0681:0.0:0.9319	.	.	.	.	.	-1	.	.	.	-	.	.	KLF10	103733467	1.000000	0.71417	0.964000	0.40570	0.915000	0.54546	7.422000	0.80217	1.085000	0.41206	0.533000	0.62120	.		0.333	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		Intron	4	74	4	74	---	---	---	---
ZHX1	11244	broad.mit.edu	37	8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:124265827T>C	ENST00000522655.1	-	3	2900	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1_ENST00000395571.3_Missense_Mutation_p.D787G|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	787					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D787G(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGTAATAATCCTTAAGTAT	0.423																																						ENST00000395571.3																			1	Substitution - Missense(1)	p.D787G(1)	prostate(1)	breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2359-2361)gAt>gGt		zinc fingers and homeoboxes 1							179.0	179.0	179.0					8																	124265827		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124265827T>C	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2360A>G	8.37:g.124265827T>C	ENSP00000428821:p.Asp787Gly					ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G	p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2977	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		787					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.2360A>G	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.050748|4.050748	0.75960|0.75960	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|.	0.24538|.	1.85;1.85;1.85|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.098436|.	0.64402|.	D|.	0.000002|.	T|T	0.73418|0.73418	0.3584|0.3584	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.69824|.	0.966|.	T|T	0.72207|0.72207	-0.4360|-0.4360	9|4	0.51188|.	T|.	0.08|.	-14.9912|-14.9912	16.5763|16.5763	0.84648|0.84648	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	787|.	Q9UKY1|.	ZHX1_HUMAN|.	G|V	787|472	ENSP00000297857:D787G;ENSP00000378938:D787G;ENSP00000428821:D787G|.	ENSP00000297857:D787G|.	D|I	-|-	2|1	0|0	ZHX1|ZHX1	124335008|124335008	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.691000|5.691000	0.68249|0.68249	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	GAT|ATT		0.423	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			6	565	6	565	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2776					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.L2776F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269																																						ENST00000360280.3																			2	Substitution - Missense(2)	p.L2776F(2)	prostate(2)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8326-8328)ttA>ttT		vacuolar protein sorting 13 homolog A (S. cerevisiae)							31.0	32.0	31.0					9																	79981645		2194	4296	6490	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79981645A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8328A>T	9.37:g.79981645A>T	ENSP00000353422:p.Leu2776Phe					VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F	p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			61	8588	+			2776					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8328A>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.108737	0.56291	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.5	2.32	0.28847	.	0.000000	0.64402	D	0.000004	D	0.89361	0.6693	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.83275	0.968;0.996;0.988;0.992	D	0.87704	0.2562	9	.	.	.	.	9.3254	0.37990	0.389:0.0:0.611:0.0	.	2737;2776;2776;2776	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	F	2776;2737;2776;2776	ENSP00000365821:L2776F;ENSP00000365823:L2737F;ENSP00000353422:L2776F;ENSP00000349985:L2776F	.	L	+	3	2	VPS13A	79171465	0.975000	0.34042	1.000000	0.80357	0.774000	0.43823	0.117000	0.15583	0.536000	0.28733	-0.479000	0.04858	TTA		0.269	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	79	4	79	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	692	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCATGTCCAGGGCACCCATG	0.637																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2074-2076)Ctg>Gtg		SH2 domain containing 3C							34.0	32.0	33.0					9																	130504081		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130504081G>C	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2074C>G	9.37:g.130504081G>C	ENSP00000317817:p.Leu692Val					SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V	p.L692V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			9	2187	-			692			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2074C>G	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956151	0.73902	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.79	3.63	0.41609	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.137726	0.49916	D	0.000126	T	0.76350	0.3975	M	0.85630	2.765	0.58432	D	0.999997	D;D;D;D;D	0.76494	0.996;0.996;0.999;0.997;0.993	P;P;D;D;P	0.78314	0.835;0.848;0.991;0.971;0.679	T	0.80668	-0.1280	10	0.87932	D	0	-14.3926	12.3479	0.55132	0.1647:0.0:0.8353:0.0	.	532;692;624;535;534	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	535;534;624;532;338;692	ENSP00000362374:L535V;ENSP00000388536:L534V;ENSP00000362373:L624V;ENSP00000362371:L532V;ENSP00000394632:L338V;ENSP00000317817:L692V	ENSP00000317817:L692V	L	-	1	2	SH2D3C	129543902	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.145000	0.42207	1.438000	0.47492	0.563000	0.77884	CTG		0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		15	32	15	32	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	ENST00000371953.3	+	8	2334	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	326	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(4)|Substitution - Missense(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)	prostate(17)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(976-978)gAc>gGc		phosphatase and tensin homolog							77.0	79.0	79.0					10																	89720826		2203	4299	6502	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720826A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.977A>G	10.37:g.89720826A>G	ENSP00000361021:p.Asp326Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.D326G	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2334	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	326			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.977A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838352	0.91117	.	.	ENSG00000171862	ENST00000371953	D	0.97529	-4.42	5.37	5.37	0.77165	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	9	.	.	.	-9.3215	15.3536	0.74409	1.0:0.0:0.0:0.0	.	326	P60484	PTEN_HUMAN	G	326	ENSP00000361021:D326G	.	D	+	2	0	PTEN	89710806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.861000	0.92277	2.034000	0.60081	0.482000	0.46254	GAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	161	7	161	---	---	---	---
SLC5A12	159963	broad.mit.edu	37	11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:26734248T>A	ENST00000396005.3	-	2	654	c.345A>T	c.(343-345)ttA>ttT	p.L115F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	115					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L115F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCGTAGTTGTAAGTACTAAA	0.428																																						ENST00000396005.3																			2	Substitution - Missense(2)	p.L115F(2)	prostate(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(343-345)ttA>ttT		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							281.0	242.0	256.0					11																	26734248		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734248T>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.345A>T	11.37:g.26734248T>A	ENSP00000379326:p.Leu115Phe					SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			2	654	-			115					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.345A>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489183	0.64074	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.89939	-2.59;-2.59	5.13	2.69	0.31865	.	0.000000	0.64402	D	0.000006	D	0.92071	0.7487	M	0.71871	2.18	0.47994	D	0.999566	P;D	0.69078	0.913;0.997	P;D	0.66196	0.795;0.942	D	0.90579	0.4528	10	0.87932	D	0	.	9.0156	0.36168	0.0:0.3849:0.0:0.6151	.	115;115	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	F	115	ENSP00000379326:L115F;ENSP00000280467:L115F	ENSP00000280467:L115F	L	-	3	2	SLC5A12	26690824	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	0.777000	0.26718	0.315000	0.23110	-0.408000	0.06270	TTA		0.428	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		8	453	8	453	---	---	---	---
OR5L2	26338	broad.mit.edu	37	11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:55595427C>A	ENST00000378397.1	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCCTCCCACCTCACAGCCAT	0.498										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.L245I(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(733-735)Ctc>Atc		olfactory receptor, family 5, subfamily L, member 2							153.0	134.0	141.0					11																	55595427		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595427C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.733C>A	11.37:g.55595427C>A	ENSP00000367650:p.Leu245Ile	HNSCC(27;0.073)					p.L245I	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	733	+		all_epithelial(135;0.208)	245					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.733C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986980	0.35036	.	.	ENSG00000205030	ENST00000378397	T	0.43294	0.95	5.24	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.442698	0.19334	N	0.116829	T	0.53834	0.1821	M	0.65975	2.015	0.32795	N	0.500606	D	0.55385	0.971	P	0.61874	0.895	T	0.64019	-0.6505	10	0.56958	D	0.05	-35.9148	5.6407	0.17562	0.1702:0.6692:0.0:0.1606	.	245	Q8NGL0	OR5L2_HUMAN	I	245	ENSP00000367650:L245I	ENSP00000367650:L245I	L	+	1	0	OR5L2	55352003	0.001000	0.12720	1.000000	0.80357	0.053000	0.15095	-0.022000	0.12480	2.617000	0.88574	0.632000	0.83419	CTC		0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		5	179	5	179	---	---	---	---
UBC	7316	broad.mit.edu	37	12	125398090	125398090	+	Silent	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	ENST00000538617.1	-	3	544	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000546120.1_Silent_p.G76G|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000536769.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G			P0CG48	UBC_HUMAN	ubiquitin C	456	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.G76G(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.532																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.G76G(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(226-228)ggG>ggA		ubiquitin C							210.0	191.0	198.0					12																	125398090		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398090C>T		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.228G>A	12.37:g.125398090C>T						UBC_ENST00000538617.1_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000339647.5_Silent_p.G76G	p.G76G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1804	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		76			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.228G>A																																																																																					0.532	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		8	346	8	346	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.6_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323																																						ENST00000255324.5																			4	Unknown(4)	p.?(4)	prostate(4)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e14+2		ring finger protein 17							75.0	79.0	77.0					13																	25376711		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376711T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1949+2T>A	13.37:g.25376711T>A						RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	2001	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37		CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.857059	0.71834	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3697	0.60707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24274711	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.699000	0.54778	1.997000	0.58415	0.482000	0.46254	.		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	5	183	5	183	---	---	---	---
PCSK6	5046	broad.mit.edu	37	15	101938639	101938639	+	Silent	SNP	A	A	C			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000331826.7_Silent_p.A156A|PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	322	Peptidase S8.				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)	p.A321A(3)		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)			AAGCCTGCTTAGCCAGTCGGC	0.552																																						ENST00000348070.1																			3	Substitution - coding silent(3)	p.A321A(3)	prostate(3)	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						c.(961-963)gcT>gcG		proprotein convertase subtilisin/kexin type 6							109.0	118.0	115.0					15																	101938639		1975	4193	6168	SO:0001819	synonymous_variant	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.chr15:101938639A>C		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.963T>G	15.37:g.101938639A>C						PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000398181.2_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A	p.A321A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	962	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		322			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.963T>G																																																																																					0.552	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		7	171	7	171	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.M179I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAAAATGGACATTTCTGGCA	0.383																																						ENST00000577390.1																			1	Substitution - Missense(1)	p.M179I(1)	prostate(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(535-537)atG>atT		cadherin 8, type 2							97.0	96.0	96.0					16																	61935093		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935093C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.537G>T	16.37:g.61935093C>A	ENSP00000462701:p.Met179Ile					CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1491	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	179			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.537G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.070956	0.85682	D	0.000000	T	0.59555	0.2202	L	0.53617	1.68	0.80722	D	1	B	0.10296	0.003	B	0.19666	0.026	T	0.54503	-0.8284	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	179	P55286	CADH8_HUMAN	I	179	ENSP00000299345:M179I	ENSP00000299345:M179I	M	-	3	0	CDH8	60492594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	2.894000	0.99253	0.591000	0.81541	ATG		0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	193	5	193	---	---	---	---
POLDIP2	26073	broad.mit.edu	37	17	26680002	26680002	+	Silent	SNP	G	G	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	ENST00000540200.1	-	7	554	c.555C>T	c.(553-555)tcC>tcT	p.S185S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	186					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488																																						ENST00000540200.1																			0											c.(553-555)tcC>tcT		polymerase (DNA-directed), delta interacting protein 2							83.0	83.0	83.0					17																	26680002		1938	4138	6076	SO:0001819	synonymous_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26680002G>A	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.555C>T	17.37:g.26680002G>A						POLDIP2_ENST00000003607.4_5'UTR	p.S185S	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	554	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		186					B2R846|Q96JE4	Silent	SNP	ENST00000540200.1	37	c.555C>T																																																																																					0.488	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584		17	41	17	41	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7174736	7174736	+	Silent	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:7174736C>A	ENST00000302850.5	-	4	1123	c.981G>T	c.(979-981)ctG>ctT	p.L327L	INSR_ENST00000341500.5_Silent_p.L327L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	327	Cys-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.L327L(3)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATGGGGTGCACAGCAAGCTAA	0.587																																						ENST00000341500.5																			3	Substitution - coding silent(3)	p.L327L(3)	prostate(3)	breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(979-981)ctG>ctT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						45.0	37.0	40.0					19																	7174736		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7174736C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.981G>T	19.37:g.7174736C>A						INSR_ENST00000302850.5_Silent_p.L327L	p.L327L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			4	1020	-			327			Cys-rich.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.981G>T	CCDS12176.1																																																																																				0.587	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			3	37	3	37	---	---	---	---
SPC24	147841	broad.mit.edu	37	19	11258496	11258496	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:11258496C>A	ENST00000592540.1	-	4	516	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	162	Interaction with the C-terminus of SPBC25.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G162V(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						AAGGATACTGCCTTTGACCAT	0.438																																						ENST00000592540.1																			1	Substitution - Missense(1)	p.G162V(1)	prostate(1)	autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(484-486)gGc>gTc		SPC24, NDC80 kinetochore complex component							59.0	60.0	60.0					19																	11258496		1905	4118	6023	SO:0001583	missense	147841				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr19:11258496C>A	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"""spindle pole body component 24 homolog (S. cerevisiae)"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.485G>T	19.37:g.11258496C>A	ENSP00000465075:p.Gly162Val						p.G162V	NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN			4	516	-			162			Interaction with the C-terminus of SPBC25.		B4DZZ7|C9JGC4	Missense_Mutation	SNP	ENST00000592540.1	37	c.485G>T	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127248	0.56721	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81780	-0.0776	9	0.87932	D	0	-14.7369	15.9929	0.80220	0.0:1.0:0.0:0.0	.	162	Q8NBT2	SPC24_HUMAN	V	116;162	.	ENSP00000397131:G162V	G	-	2	0	SPC24	11119496	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	4.402000	0.59722	2.357000	0.79964	0.655000	0.94253	GGC		0.438	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1	NM_182513		3	37	3	37	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	ENST00000396720.3	+	12	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1125								p.P1125S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396720.3																			1	Substitution - Missense(1)	p.P1125S(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3373-3375)Ccc>Tcc		glioma tumor suppressor candidate region gene 1							27.0	28.0	28.0					19																	48202015		1966	4145	6111	SO:0001583	missense	29998						protein binding	g.chr19:48202015C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3373C>T	19.37:g.48202015C>T	ENSP00000379946:p.Pro1125Ser		OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	952	CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P1125S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	12	3567	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1125					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.3373C>T	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	c	13.40	2.225017	0.39300	.	.	ENSG00000063169	ENST00000396720	T	0.36340	1.26	4.27	4.27	0.50696	.	.	.	.	.	T	0.34135	0.0887	L	0.28400	0.85	0.35098	D	0.764972	P	0.41345	0.746	P	0.44921	0.464	T	0.47195	-0.9136	9	0.39692	T	0.17	.	15.6207	0.76805	0.0:1.0:0.0:0.0	.	1125	Q9NZM4	GSCR1_HUMAN	S	1125	ENSP00000379946:P1125S	ENSP00000379946:P1125S	P	+	1	0	GLTSCR1	52893827	0.998000	0.40836	0.992000	0.48379	0.981000	0.71138	3.564000	0.53791	2.222000	0.72286	0.556000	0.70494	CCC		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		3	9	3	9	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	ENST00000464456.1	-	13	3803	c.2603delA	c.(2602-2604)aagfs	p.K868fs	MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2602-2604)aagfs		MDS1 and EVI1 complex locus							103.0	104.0	104.0					3																	168807995		2203	4299	6502	SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807995delT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2603delA	3.37:g.168807995delT	ENSP00000419770:p.Lys868fs					MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs	p.K868fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	3803	-			0					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.2603delA	CCDS54669.1																																																																																				0.318	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		38	286	38	286	---	---	---	---
CEP57L1	285753	broad.mit.edu	37	6	109476463	109476466	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:109476463_109476466delAAGG	ENST00000517392.1	+	6	1036_1039	c.610_613delAAGG	c.(610-615)aaggaafs	p.KE204fs	CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521277.1_Frame_Shift_Del_p.KE188fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	204					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AGAAAAACTTAAGGAAGAAGAACA	0.275																																						ENST00000521277.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(562-567)aaggaafs		centrosomal protein 57kDa-like 1																																				SO:0001589	frameshift_variant	285753					microtubule|microtubule organizing center		g.chr6:109476463_109476466delAAGG	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.610_613delAAGG	6.37:g.109476463_109476466delAAGG	ENSP00000427844:p.Lys204fs					CEP57L1_ENST00000517392.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000523787.1_Frame_Shift_Del_p.KE207fs|CEP57L1_ENST00000519095.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368970.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000359793.3_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000521522.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000407272.1_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000368968.2_Frame_Shift_Del_p.KE204fs|CEP57L1_ENST00000336977.4_Frame_Shift_Del_p.KE128fs|CEP57L1_ENST00000520883.1_Frame_Shift_Del_p.KE128fs	p.KE188fs			Q8IYX8	CE57L_HUMAN			7	1087_1090	+			204					G5E992	Frame_Shift_Del	DEL	ENST00000517392.1	37	c.562_565delAAGG	CCDS5071.1																																																																																				0.275	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		33	134	33	134	---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	ENST00000599538.1	-	5	979_980	c.315_316insC	c.(313-318)cccaaafs	p.K106fs	VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	106					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	ENST00000599538.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23						c.(313-318)cccaaafs		vaccinia related kinase 3																																				SO:0001589	frameshift_variant	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50511057_50511058insG	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.316dupC	19.37:g.50511062_50511062dupG	ENSP00000469880:p.Lys106fs					VRK3_ENST00000601912.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.K106fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.K56fs|VRK3_ENST00000443401.2_5'UTR	p.K106fs			Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	5	979_980	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	106					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Frame_Shift_Ins	INS	ENST00000599538.1	37	c.315_316insC	CCDS12791.1																																																																																				0.564	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		7	251	7	251	---	---	---	---
