#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
GSTM3	2947	broad.mit.edu	37	1	110280790	110280790	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:110280790T>A	ENST00000540225.1	-	6	605	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	99	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCCACTCGAATCTTTTCTTCT	0.473																																						ENST00000540225.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(295-297)Att>Ttt		glutathione S-transferase mu 3 (brain)	Glutathione(DB00143)						217.0	204.0	209.0					1																	110280790		2203	4300	6503	SO:0001583	missense	2947				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding	g.chr1:110280790T>A	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.295A>T	1.37:g.110280790T>A	ENSP00000444978:p.Ile99Phe		Somatic				GSTM3_ENST00000361066.2_Missense_Mutation_p.I99F|GSTM3_ENST00000256594.3_Missense_Mutation_p.I99F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA	p.I99F			WXS	Illumina GAIIx	Phase_I	P21266	GSTM3_HUMAN		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	6	605	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	99			GST C-terminal.		O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	c.295A>T	CCDS812.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868200	0.72065	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03635	3.86;3.86;3.86	5.41	4.29	0.51040	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);	0.140827	0.64402	D	0.000005	T	0.12347	0.0300	H	0.95574	3.69	0.50313	D	0.999862	P;D;P	0.54207	0.642;0.965;0.642	B;P;B	0.56434	0.053;0.798;0.053	T	0.01409	-1.1362	10	0.87932	D	0	-7.924	10.3588	0.43980	0.0:0.0777:0.0:0.9222	.	99;105;99	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	F	99	ENSP00000444978:I99F;ENSP00000256594:I99F;ENSP00000354357:I99F	ENSP00000256594:I99F	I	-	1	0	GSTM3	110082313	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	1.618000	0.36954	1.071000	0.40834	0.460000	0.39030	ATT		0.473	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849		3	38	3	38	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160793350	160793350	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:160793350A>T	ENST00000263285.6	+	8	1624	c.1594A>T	c.(1594-1596)Acc>Tcc	p.T532S	LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368037.5_Missense_Mutation_p.T518S|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S|LY9_ENST00000341032.4_Intron			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	532					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTACACCCACCTCAGACAG	0.557																																						ENST00000368037.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1552-1554)Acc>Tcc		lymphocyte antigen 9							80.0	68.0	72.0					1																	160793350		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793350A>T	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1594A>T	1.37:g.160793350A>T	ENSP00000263285:p.Thr532Ser		Somatic				LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.T402S|LY9_ENST00000263285.6_Missense_Mutation_p.T532S|LY9_ENST00000392203.4_Missense_Mutation_p.T442S|LY9_ENST00000368040.1_Missense_Mutation_p.T170S	p.T518S	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1666	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)							A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1552A>T	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	7.592	0.671045	0.14776	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368035	T;T;T	0.36340	2.42;1.26;2.42	3.34	-6.68	0.01778	.	1.625600	0.04499	U	0.380910	T	0.07052	0.0179	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B	0.28350	0.132;0.062;0.034;0.208;0.132	B;B;B;B;B	0.27887	0.038;0.01;0.011;0.084;0.038	T	0.03761	-1.1006	10	0.45353	T	0.12	-0.0145	2.2305	0.03995	0.2909:0.3291:0.2714:0.1086	.	170;478;402;518;532	Q5VYI1;Q5VYH7;Q5VYH9;Q9HBG7-2;Q9HBG7	.;.;.;.;LY9_HUMAN	S	532;170;532;402;478;170	ENSP00000357019:T170S;ENSP00000263285:T532S;ENSP00000357014:T170S	ENSP00000263285:T532S	T	+	1	0	LY9	159059974	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-2.123000	0.01319	-3.031000	0.00266	-1.777000	0.00654	ACC		0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		4	29	4	29	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215963501	215963501	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr1:215963501G>T	ENST00000307340.3	-	51	10468	c.10082C>A	c.(10081-10083)aCt>aAt	p.T3361N	USH2A_ENST00000366943.2_Missense_Mutation_p.T3361N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3361					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATAAGTTCAGTCTCACAGCA	0.383										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10081-10083)aCt>aAt		Usher syndrome 2A (autosomal recessive, mild)							134.0	128.0	130.0					1																	215963501		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215963501G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10082C>A	1.37:g.215963501G>T	ENSP00000305941:p.Thr3361Asn	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.T3361N	p.T3361N			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	51	10468	-			3361					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10082C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156772	0.78114	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13901	2.55;2.55	5.76	4.85	0.62838	Fibronectin, type III (2);	0.144127	0.31484	N	0.007576	T	0.25568	0.0622	M	0.63428	1.95	0.42377	D	0.99247	D	0.59767	0.986	P	0.50970	0.655	T	0.03240	-1.1057	10	0.72032	D	0.01	.	15.0855	0.72148	0.0677:0.0:0.9323:0.0	.	3361	O75445	USH2A_HUMAN	N	3361	ENSP00000305941:T3361N;ENSP00000355910:T3361N	ENSP00000305941:T3361N	T	-	2	0	USH2A	214030124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.960000	0.70348	1.445000	0.47624	-0.126000	0.14955	ACT		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	52	5	52	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71043280	71043280	+	Missense_Mutation	SNP	G	G	T	rs148473537		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:71043280G>T	ENST00000272367.2	-	4	1309	c.1233C>A	c.(1231-1233)gaC>gaA	p.D411E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	411					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCAGATTGCTGTCTAACATCT	0.468																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1231-1233)gaC>gaA		C-type lectin domain family 4, member F							138.0	125.0	130.0					2																	71043280		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043280G>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1233C>A	2.37:g.71043280G>T	ENSP00000272367:p.Asp411Glu		Somatic				CLEC4F_ENST00000426626.1_Missense_Mutation_p.D411E	p.D411E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	WXS	Illumina GAIIx	Phase_I	Q8N1N0	CLC4F_HUMAN			4	1309	-			411					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1233C>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	0.309	-0.969036	0.02232	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.68903	-0.36;-0.36	3.99	1.09	0.20402	.	0.935613	0.08830	N	0.887432	T	0.29620	0.0739	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31110	-0.9955	10	0.02654	T	1	.	5.363	0.16098	0.0:0.6498:0.2005:0.1497	.	411;411	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	E	411	ENSP00000272367:D411E;ENSP00000390581:D411E	ENSP00000272367:D411E	D	-	3	2	CLEC4F	70896788	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-0.104000	0.10923	0.222000	0.20900	-0.499000	0.04595	GAC		0.468	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		3	40	3	40	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530341	80530341	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:80530341G>A	ENST00000295057.3	-	2	1260	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	202					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAAGAGTTGCGCGCCAGACTC	0.587										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(604-606)Cgc>Tgc		leucine rich repeat transmembrane neuronal 1							76.0	78.0	77.0					2																	80530341		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530341G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.604C>T	2.37:g.80530341G>A	ENSP00000295057:p.Arg202Cys	HNSCC(69;0.2)	Somatic				CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R202C|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	p.R202C	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	Q86UE6	LRRT1_HUMAN			2	1260	-			202					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.604C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478843	0.63849	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.79845	-1.31;-1.31;4.3	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.89054	0.6606	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89033	0.3443	9	.	.	.	.	18.1217	0.89573	0.0:0.0:1.0:0.0	.	202	Q86UE6	LRRT1_HUMAN	C	202	ENSP00000295057:R202C;ENSP00000386646:R202C;ENSP00000415368:R202C	.	R	-	1	0	LRRTM1	80383852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.631000	0.74277	2.232000	0.73038	0.655000	0.94253	CGC		0.587	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		10	59	10	59	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233244506	233244506	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr2:233244506G>A	ENST00000392027.2	+	5	786	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	173					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCACACGAGTGCAGCACGC	0.657																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(517-519)Gtg>Atg		alkaline phosphatase, placental							60.0	59.0	59.0					2																	233244506		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244506G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.517G>A	2.37:g.233244506G>A	ENSP00000375881:p.Val173Met		Somatic				AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.V173M	NM_001632.3	NP_001623.3	WXS	Illumina GAIIx	Phase_I	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	786	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	173					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.517G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965837	0.53507	.	.	ENSG00000163283	ENST00000392027	D	0.97752	-4.52	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	M	0.91300	3.195	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.99257	1.0889	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	173	P05187	PPB1_HUMAN	M	173	ENSP00000375881:V173M	ENSP00000375881:V173M	V	+	1	0	ALPP	232952750	1.000000	0.71417	0.551000	0.28230	0.289000	0.27227	7.154000	0.77437	1.289000	0.44618	0.298000	0.19748	GTG		0.657	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		13	25	13	25	---	---	---	---
HLTF	6596	broad.mit.edu	37	3	148765942	148765942	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:148765942T>C	ENST00000310053.5	-	17	1958	c.1765A>G	c.(1765-1767)Atc>Gtc	p.I589V	HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	589	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAATTCTGGATTGGAGTACCT	0.348																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1765-1767)Atc>Gtc		helicase-like transcription factor							55.0	57.0	57.0					3																	148765942		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148765942T>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1765A>G	3.37:g.148765942T>C	ENSP00000308944:p.Ile589Val		Somatic				HLTF_ENST00000392912.2_Missense_Mutation_p.I589V|HLTF_ENST00000465259.1_Missense_Mutation_p.I588V|HLTF_ENST00000494055.1_Missense_Mutation_p.I589V	p.I589V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	WXS	Illumina GAIIx	Phase_I	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	1958	-			589			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1765A>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205036	0.79127	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.65	5.65	0.86999	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.94476	0.8222	L	0.35249	1.045	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.998;0.996	D;D;D	0.83275	0.988;0.996;0.944	D	0.95259	0.8367	9	0.87932	D	0	-4.2497	14.8528	0.70309	0.0:0.0:0.0:1.0	.	589;589;589	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	V	588;589;589;589;53	ENSP00000420745:I588V;ENSP00000308944:I589V;ENSP00000376644:I589V;ENSP00000420429:I589V;ENSP00000420106:I53V	ENSP00000308944:I589V	I	-	1	0	HLTF	150248632	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	7.210000	0.77924	2.146000	0.66826	0.533000	0.62120	ATC		0.348	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			16	25	16	25	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372551	126372551	+	Silent	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr4:126372551A>G	ENST00000394329.3	+	9	10393	c.10380A>G	c.(10378-10380)ggA>ggG	p.G3460G	FAT4_ENST00000335110.5_Silent_p.G1758G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3460	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCAGACAGGACAGATCACCG	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10378-10380)ggA>ggG		FAT atypical cadherin 4							101.0	104.0	103.0					4																	126372551		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372551A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10380A>G	4.37:g.126372551A>G			Somatic				FAT4_ENST00000335110.5_Silent_p.G1758G	p.G3460G	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	10393	+			3460			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10380A>G	CCDS3732.3																																																																																				0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	59	18	59	---	---	---	---
C9	735	broad.mit.edu	37	5	39331784	39331784	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:39331784G>C	ENST00000263408.4	-	5	704	c.609C>G	c.(607-609)atC>atG	p.I203M	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	203	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		I -> V (in dbSNP:rs13361416).		complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACTTCATAGATCAAAGAAG	0.398																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(607-609)atC>atG		complement component 9							123.0	119.0	121.0					5																	39331784		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331784G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.609C>G	5.37:g.39331784G>C	ENSP00000263408:p.Ile203Met		Somatic				C9_ENST00000509186.1_5'UTR	p.I203M	NM_001737.3	NP_001728.1	WXS	Illumina GAIIx	Phase_I	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	704	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	203		I -> V (in dbSNP:rs13361416).	MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.609C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	0.804	-0.754264	0.03041	.	.	ENSG00000113600	ENST00000263408	T	0.29655	1.56	5.52	-2.09	0.07232	Membrane attack complex component/perforin (MACPF) domain (1);	1.368680	0.04186	N	0.327329	T	0.19366	0.0465	L	0.31294	0.92	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19877	-1.0292	10	0.38643	T	0.18	0.6476	1.9461	0.03357	0.2672:0.3687:0.2402:0.1239	.	203	P02748	CO9_HUMAN	M	203	ENSP00000263408:I203M	ENSP00000263408:I203M	I	-	3	3	C9	39367541	0.017000	0.18338	0.029000	0.17559	0.010000	0.07245	0.058000	0.14301	-0.211000	0.10124	-1.286000	0.01371	ATC		0.398	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			20	24	20	24	---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102890441	102890441	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr5:102890441C>G	ENST00000230792.2	-	5	1174	c.1078G>C	c.(1078-1080)Gga>Cga	p.G360R	NUDT12_ENST00000507423.1_Splice_Site_p.G342R|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	360	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AATGGCTTACCAGGCTCAATA	0.313																																						ENST00000230792.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12						c.(1078-1080)Gga>Cga		nudix (nucleoside diphosphate linked moiety X)-type motif 12							46.0	45.0	45.0					5																	102890441		2202	4300	6502	SO:0001630	splice_region_variant	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102890441C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1078+1G>C	5.37:g.102890441C>G			Somatic				NUDT12_ENST00000515407.1_5'UTR|NUDT12_ENST00000507423.1_Splice_Site_p.G342R	p.G360R	NM_031438.2	NP_113626.1	WXS	Illumina GAIIx	Phase_I	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	5	1174	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	360			Nudix hydrolase.		B3KUW2|Q8TAL7	Splice_Site	SNP	ENST00000230792.2	37	c.1078G>C	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880329	0.91740	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.66815	-0.23;-0.23	5.62	5.62	0.85841	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91123	0.4931	10	0.87932	D	0	-15.7369	19.6452	0.95773	0.0:1.0:0.0:0.0	.	342;360	E7EM93;Q9BQG2	.;NUD12_HUMAN	R	360;342	ENSP00000230792:G360R;ENSP00000424521:G342R	ENSP00000230792:G360R	G	-	1	0	NUDT12	102918340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.420000	0.80191	2.638000	0.89438	0.655000	0.94253	GGA		0.313	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438	Missense_Mutation	3	28	3	28	---	---	---	---
COQ3	51805	broad.mit.edu	37	6	99823923	99823923	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:99823923T>C	ENST00000254759.3	-	5	646	c.622A>G	c.(622-624)Att>Gtt	p.I208V	COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	208					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCCACAATCTCTTCCAGG	0.403																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(622-624)Att>Gtt		coenzyme Q3 methyltransferase							209.0	200.0	203.0					6																	99823923		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99823923T>C	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.622A>G	6.37:g.99823923T>C	ENSP00000254759:p.Ile208Val		Somatic				COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	p.I208V	NM_017421.3	NP_059117.3	WXS	Illumina GAIIx	Phase_I	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	5	646	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	208					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.622A>G	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329207	0.41197	.	.	ENSG00000132423	ENST00000254759	T	0.13901	2.55	5.49	4.28	0.50868	Methyltransferase type 11 (1);	0.293471	0.38326	N	0.001733	T	0.02649	0.0080	N	0.05012	-0.13	0.80722	D	1	B	0.24258	0.1	B	0.29077	0.098	T	0.29761	-1.0001	10	0.59425	D	0.04	-7.4689	7.6291	0.28228	0.0:0.0722:0.1402:0.7876	.	208	Q9NZJ6	COQ3_HUMAN	V	208	ENSP00000254759:I208V	ENSP00000254759:I208V	I	-	1	0	COQ3	99930644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.925000	0.56484	0.871000	0.35750	0.459000	0.35465	ATT		0.403	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		4	75	4	75	---	---	---	---
TAB2	23118	broad.mit.edu	37	6	149699821	149699821	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr6:149699821C>T	ENST00000367456.1	+	4	1347	c.770C>T	c.(769-771)aCt>aTt	p.T257I	TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000286332.5_Missense_Mutation_p.T257I			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	257					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GGTCCCTGGACTACTTGTCCT	0.488																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(769-771)aCt>aTt		TGF-beta activated kinase 1/MAP3K7 binding protein 2							178.0	166.0	170.0					6																	149699821		2203	4300	6503	SO:0001583	missense	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699821C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.770C>T	6.37:g.149699821C>T	ENSP00000356426:p.Thr257Ile		Somatic				TAB2_ENST00000286332.5_Missense_Mutation_p.T257I|TAB2_ENST00000392282.1_Missense_Mutation_p.T257I|TAB2_ENST00000538427.1_Missense_Mutation_p.T257I|TAB2_ENST00000536230.1_Missense_Mutation_p.T225I	p.T257I			WXS	Illumina GAIIx	Phase_I	Q9NYJ8	TAB2_HUMAN			4	1347	+			257					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	c.770C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276540	0.10403	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.72725	-0.67;-0.68;-0.67;-0.67;-0.67	5.84	5.84	0.93424	.	0.139329	0.64402	D	0.000004	T	0.44329	0.1288	N	0.08118	0	0.58432	D	0.999997	P;P	0.50617	0.937;0.937	B;B	0.42851	0.4;0.276	T	0.49390	-0.8945	10	0.27785	T	0.31	-16.6496	20.1346	0.98019	0.0:1.0:0.0:0.0	.	225;257	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	I	225;257;257;257;257	ENSP00000443206:T225I;ENSP00000376106:T257I;ENSP00000445752:T257I;ENSP00000356426:T257I;ENSP00000286332:T257I	ENSP00000286332:T257I	T	+	2	0	TAB2	149741514	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.137000	0.64789	2.763000	0.94921	0.557000	0.71058	ACT		0.488	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			28	42	28	42	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20180754	20180754	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr7:20180754G>C	ENST00000400331.5	-	7	2682	c.2374C>G	c.(2374-2376)Ctg>Gtg	p.L792V	MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	792					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGGTATACAGAAAATCATAG	0.358																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2374-2376)Ctg>Gtg		metastasis associated in colon cancer 1							63.0	66.0	65.0					7																	20180754		2203	4298	6501	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20180754G>C		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2374C>G	7.37:g.20180754G>C	ENSP00000383185:p.Leu792Val		Somatic				MACC1_ENST00000332878.4_Missense_Mutation_p.L792V|MACC1_ENST00000589011.1_Missense_Mutation_p.L792V	p.L792V	NM_182762.3	NP_877439.3	WXS	Illumina GAIIx	Phase_I	Q6ZN28	MACC1_HUMAN			7	2682	-			792					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.2374C>G	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476470	0.84640	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.59772	0.24;0.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79185	0.4403	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80924	-0.1165	10	0.87932	D	0	-10.2468	19.9351	0.97137	0.0:0.0:1.0:0.0	.	792	Q6ZN28	MACC1_HUMAN	V	792	ENSP00000383185:L792V;ENSP00000328410:L792V	ENSP00000328410:L792V	L	-	1	2	MACC1	20147279	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	9.869000	0.99810	2.703000	0.92315	0.655000	0.94253	CTG		0.358	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		5	30	5	30	---	---	---	---
RAD54B	25788	broad.mit.edu	37	8	95416434	95416434	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr8:95416434T>C	ENST00000336148.5	-	6	939	c.815A>G	c.(814-816)cAc>cGc	p.H272R		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	272					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACCCACTGGTGATTCTTATC	0.348								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(814-816)cAc>cGc	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							125.0	113.0	117.0					8																	95416434		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95416434T>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.815A>G	8.37:g.95416434T>C	ENSP00000336606:p.His272Arg		Somatic					p.H272R	NM_012415.3	NP_036547.1	WXS	Illumina GAIIx	Phase_I	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		6	939	-	Breast(36;4.5e-05)		0					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.815A>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.944906	0.73672	.	.	ENSG00000197275	ENST00000336148	D	0.92805	-3.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95548	0.8553	M	0.89968	3.075	0.80722	D	1	D	0.69078	0.997	P	0.60682	0.878	D	0.94725	0.7904	10	0.29301	T	0.29	-14.1386	11.494	0.50398	0.1342:0.0:0.0:0.8658	.	272	Q9Y620	RA54B_HUMAN	R	272	ENSP00000336606:H272R	ENSP00000336606:H272R	H	-	2	0	RAD54B	95485610	1.000000	0.71417	0.962000	0.40283	0.984000	0.73092	4.240000	0.58701	1.973000	0.57446	0.533000	0.62120	CAC		0.348	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		13	57	13	57	---	---	---	---
TYRP1	7306	broad.mit.edu	37	9	12695765	12695765	+	Missense_Mutation	SNP	T	T	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:12695765T>G	ENST00000388918.5	+	3	765	c.636T>G	c.(634-636)gaT>gaG	p.D212E	TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame|TYRP1_ENST00000381137.2_De_novo_Start_OutOfFrame	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	212					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTGAAGTGGATTTCTCTCATG	0.428									Oculocutaneous Albinism																													ENST00000381137.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22								tyrosinase-related protein 1							90.0	92.0	91.0					9																	12695765		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12695765T>G	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.636T>G	9.37:g.12695765T>G	ENSP00000373570:p.Asp212Glu		Somatic				TYRP1_ENST00000388918.5_Missense_Mutation_p.D212E|TYRP1_ENST00000381136.2_De_novo_Start_OutOfFrame				WXS	Illumina GAIIx	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	0	814	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)						P78468|P78469|Q13721|Q15679	Translation_Start_Site	SNP	ENST00000388918.5	37		CCDS34990.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.996577	0.74818	.	.	ENSG00000107165	ENST00000388918	D	0.98987	-5.3	5.26	2.93	0.34026	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99581	1.0973	10	0.87932	D	0	-13.8377	9.4562	0.38756	0.0:0.1443:0.0:0.8557	.	212	P17643	TYRP1_HUMAN	E	212	ENSP00000373570:D212E	ENSP00000373570:D212E	D	+	3	2	TYRP1	12685765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.510000	0.35790	0.420000	0.25954	0.383000	0.25322	GAT		0.428	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		19	27	19	27	---	---	---	---
SPATA31A6	389730	broad.mit.edu	37	9	43627521	43627521	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:43627521G>A	ENST00000332857.6	-	4	1194	c.1166C>T	c.(1165-1167)tCg>tTg	p.S389L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	389					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGCTGTTTCGAGTTCTCTCC	0.483																																						ENST00000332857.6																			0											c.(1165-1167)tCg>tTg		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627521		317	948	1265	SO:0001583	missense	389730							g.chr9:43627521G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1166C>T	9.37:g.43627521G>A	ENSP00000329825:p.Ser389Leu		Somatic					p.S389L	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					4	1194	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1166C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	6.311	0.425514	0.11987	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	2.5	0.524	0.17066	.	1.385230	0.04713	N	0.417874	T	0.01421	0.0046	N	0.01789	-0.72	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.44065	-0.9352	10	0.08179	T	0.78	-0.0403	2.8951	0.05688	0.159:0.0:0.5687:0.2723	.	389	Q5VVP1	F75A6_HUMAN	L	389	ENSP00000329825:S389L	ENSP00000329825:S389L	S	-	2	0	FAM75A6	43567517	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.077000	0.14738	0.124000	0.18369	0.393000	0.25936	TCG		0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		34	192	34	192	---	---	---	---
GOLM1	51280	broad.mit.edu	37	9	88651374	88651374	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr9:88651374G>T	ENST00000388712.3	-	7	814	c.646C>A	c.(646-648)Cca>Aca	p.P216T	GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	216					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTGTGTGTGGCAGGCCTGCT	0.582																																						ENST00000388712.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(646-648)Cca>Aca		golgi membrane protein 1							99.0	86.0	90.0					9																	88651374		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88651374G>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.646C>A	9.37:g.88651374G>T	ENSP00000373364:p.Pro216Thr		Somatic				GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.P216T	p.P216T	NM_016548.3	NP_057632.2	WXS	Illumina GAIIx	Phase_I	Q8NBJ4	GOLM1_HUMAN			7	814	-			216					Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.646C>A	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463707	0.43736	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.44482	0.92;0.92	3.66	0.632	0.17705	.	0.671857	0.15489	N	0.259680	T	0.30103	0.0754	L	0.56769	1.78	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.23440	-1.0188	10	0.15066	T	0.55	-31.8287	3.2259	0.06731	0.231:0.0:0.5629:0.2062	.	216	Q8NBJ4	GOLM1_HUMAN	T	216	ENSP00000373364:P216T;ENSP00000373363:P216T	ENSP00000373363:P216T	P	-	1	0	GOLM1	87841194	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	0.460000	0.21924	0.132000	0.18615	0.561000	0.74099	CCA		0.582	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		11	32	11	32	---	---	---	---
ARHGAP12	94134	broad.mit.edu	37	10	32101744	32101744	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:32101744T>A	ENST00000344936.2	-	15	2076	c.1842A>T	c.(1840-1842)aaA>aaT	p.K614N	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K584N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	614					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGCTAGATACTTTAAAGGCTT	0.333																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(1750-1752)aaA>aaT		Rho GTPase activating protein 12							78.0	83.0	81.0					10																	32101744		2202	4300	6502	SO:0001583	missense	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32101744T>A	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1842A>T	10.37:g.32101744T>A	ENSP00000345808:p.Lys614Asn		Somatic				ARHGAP12_ENST00000344936.2_Missense_Mutation_p.K614N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K562N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K609N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K562N	p.K584N	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			13	1993	-		Prostate(175;0.0199)	614					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	c.1752A>T	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207283	0.79240	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.74	5.74	0.90152	.	0.157374	0.64402	D	0.000019	T	0.43919	0.1269	L	0.34521	1.04	0.54753	D	0.999983	P;D;D;D;D;D	0.58620	0.871;0.97;0.983;0.97;0.97;0.983	P;P;P;P;P;P	0.62014	0.548;0.791;0.897;0.791;0.791;0.841	T	0.33979	-0.9847	10	0.46703	T	0.11	.	10.3984	0.44214	0.0:0.0727:0.0:0.9273	.	567;584;584;609;614;562	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	N	562;584;614;609;562	ENSP00000310984:K562N;ENSP00000364399:K584N;ENSP00000345808:K614N;ENSP00000379448:K609N;ENSP00000364394:K562N	ENSP00000310984:K562N	K	-	3	2	ARHGAP12	32141750	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	2.910000	0.48766	2.183000	0.69458	0.533000	0.62120	AAA		0.333	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			10	35	10	35	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50531758	50531758	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:50531758G>T	ENST00000374144.3	+	3	1456	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	390								p.G390R(1)		endometrium(1)	1						TGGCAAAAAAGGGAAAGAAAG	0.473																																						ENST00000374144.3																			1	Substitution - Missense(1)	p.G390R(1)	skin(1)	endometrium(1)	1						c.(1168-1170)Ggg>Tgg		chromosome 10 open reading frame 71							86.0	89.0	88.0					10																	50531758		1872	4098	5970	SO:0001583	missense	118461							g.chr10:50531758G>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1168G>T	10.37:g.50531758G>T	ENSP00000363259:p.Gly390Trp		Somatic				C10orf71_ENST00000323868.4_Missense_Mutation_p.G390W	p.G390W			WXS	Illumina GAIIx	Phase_I	Q711Q0	CJ071_HUMAN			3	1456	+			390					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1168G>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267972	0.23136	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.17691	2.26;3.4	5.64	1.62	0.23740	.	0.245643	0.28653	N	0.014582	T	0.32971	0.0847	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.07404	-1.0774	10	0.87932	D	0	.	9.4004	0.38428	0.4207:0.0:0.5793:0.0	.	390	Q711Q0-3	.	W	390	ENSP00000318713:G390W;ENSP00000363259:G390W	ENSP00000318713:G390W	G	+	1	0	C10orf71	50201764	0.013000	0.17824	0.009000	0.14445	0.206000	0.24218	0.240000	0.18042	0.041000	0.15688	0.655000	0.94253	GGG		0.473	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		10	33	10	33	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98386517	98386517	+	Silent	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr10:98386517G>A	ENST00000339364.5	-	10	1736	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	PIK3AP1_ENST00000371109.3_Silent_p.T138T|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Silent_p.T361T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	539					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGAGCAGTGGTCTCTGGTC	0.532																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1615-1617)acC>acT		phosphoinositide-3-kinase adaptor protein 1							113.0	103.0	106.0					10																	98386517		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98386517G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1617C>T	10.37:g.98386517G>A			Somatic				PIK3AP1_ENST00000371110.2_Silent_p.T361T|PIK3AP1_ENST00000371109.3_Silent_p.T138T	p.T539T	NM_152309.2	NP_689522.2	WXS	Illumina GAIIx	Phase_I	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	10	1736	-		Colorectal(252;0.0442)	539					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1617C>T	CCDS31259.1																																																																																				0.532	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		3	30	3	30	---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19252363	19252363	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:19252363T>C	ENST00000527884.1	-	8	1317	c.1085A>G	c.(1084-1086)cAt>cGt	p.H362R	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.H362R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	362					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGAGTAAAATGAATGACTGG	0.418																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1084-1086)cAt>cGt		E2F transcription factor 8							53.0	53.0	53.0					11																	19252363		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19252363T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1085A>G	11.37:g.19252363T>C	ENSP00000434199:p.His362Arg		Somatic				E2F8_ENST00000250024.4_Missense_Mutation_p.H362R|RP11-428C19.4_ENST00000527978.1_RNA	p.H362R	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			8	1317	-			362					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1085A>G	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	4.746	0.138711	0.09083	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.16196	2.36;2.36	5.76	3.89	0.44902	.	0.502594	0.22532	N	0.058821	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.28459	-1.0043	10	0.17832	T	0.49	-1.0231	14.3515	0.66705	0.0:0.0:0.7287:0.2713	.	362	A0AVK6	E2F8_HUMAN	R	362	ENSP00000434199:H362R;ENSP00000250024:H362R	ENSP00000250024:H362R	H	-	2	0	E2F8	19208939	0.362000	0.24980	0.007000	0.13788	0.001000	0.01503	3.129000	0.50500	0.773000	0.33404	-0.860000	0.03012	CAT		0.418	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		9	27	9	27	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974310	49974310	+	Silent	SNP	A	A	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:49974310A>C	ENST00000555099.1	+	1	368	c.336A>C	c.(334-336)ctA>ctC	p.L112L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AGGTCATCCTACTTACTGTAA	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(334-336)ctA>ctC		olfactory receptor, family 4, subfamily C, member 13							110.0	105.0	107.0					11																	49974310		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974310A>C	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.336A>C	11.37:g.49974310A>C			Somatic					p.L112L	NM_001001955.2	NP_001001955.2	WXS	Illumina GAIIx	Phase_I	Q8NGP0	OR4CD_HUMAN			1	368	+			112					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.336A>C	CCDS31495.1																																																																																				0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		4	58	4	58	---	---	---	---
DAK	26007	broad.mit.edu	37	11	61110228	61110228	+	Splice_Site	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:61110228C>A	ENST00000394900.3	+	10	1006	c.777C>A	c.(775-777)ggC>ggA	p.G259G		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	259	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TACCCGCAGGCTCCTCAGTTG	0.627																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(775-777)ggC>ggA		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							70.0	72.0	71.0					11																	61110228		2203	4299	6502	SO:0001630	splice_region_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110228C>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.776-1C>A	11.37:g.61110228C>A			Somatic					p.G259G	NM_015533.3	NP_056348.2	WXS	Illumina GAIIx	Phase_I	Q3LXA3	DHAK_HUMAN			10	1006	+			259			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Splice_Site	SNP	ENST00000394900.3	37	c.777C>A	CCDS8003.1																																																																																				0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	Silent	14	23	14	23	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62284330	62284330	+	Silent	SNP	C	C	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr11:62284330C>A	ENST00000378024.4	-	5	17833	c.17559G>T	c.(17557-17559)gtG>gtT	p.V5853V	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5853					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCCAGGGACACCCCACTCC	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17557-17559)gtG>gtT		AHNAK nucleoprotein							203.0	177.0	186.0					11																	62284330		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284330C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17559G>T	11.37:g.62284330C>A			Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron	p.V5853V	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	17833	-		Melanoma(852;0.155)	5853					A1A586	Silent	SNP	ENST00000378024.4	37	c.17559G>T	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	69	35	69	---	---	---	---
HNRNPA1	3178	broad.mit.edu	37	12	54675192	54675192	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr12:54675192T>C	ENST00000340913.6	+	2	91	c.38T>C	c.(37-39)cTg>cCg	p.L13P	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.L13P|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	13	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CCCGAACAGCTGAGGAAGCTC	0.483																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(37-39)cTg>cCg		heterogeneous nuclear ribonucleoprotein A1							70.0	73.0	72.0					12																	54675192		1941	4178	6119	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54675192T>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.38T>C	12.37:g.54675192T>C	ENSP00000341826:p.Leu13Pro		Somatic				HNRNPA1_ENST00000547276.1_Missense_Mutation_p.L13P|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.L13P|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.L13P	p.L13P			WXS	Illumina GAIIx	Phase_I	P09651	ROA1_HUMAN			2	653	+			13			Globular A domain.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.38T>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425919	0.62733	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	4.43	4.43	0.53597	.	0.000000	0.42821	D	0.000645	D	0.90307	0.6968	L	0.31664	0.95	0.80722	D	1	P;D;D;B;D;D	0.65815	0.928;0.989;0.995;0.051;0.989;0.993	P;P;P;B;P;P	0.59643	0.668;0.861;0.837;0.111;0.861;0.796	D	0.91206	0.4995	10	0.72032	D	0.01	.	12.293	0.54829	0.0:0.0:0.0:1.0	.	13;13;13;13;13;13	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	P	13;13;13;13;13;13;13;13;13;13;32	ENSP00000448617:L13P;ENSP00000448229:L13P;ENSP00000341826:L13P;ENSP00000333504:L13P;ENSP00000448117:L13P;ENSP00000447260:L13P;ENSP00000447782:L32P	ENSP00000333504:L13P	L	+	2	0	HNRNPA1	52961459	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.949000	0.87791	1.951000	0.56629	0.402000	0.26972	CTG		0.483	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		18	26	18	26	---	---	---	---
ANXA2	302	broad.mit.edu	37	15	60641330	60641330	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr15:60641330T>A	ENST00000396024.3	-	13	1063	c.904A>T	c.(904-906)Aaa>Taa	p.K302*	ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	302					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	GACCTAATTTTCAACATGTCC	0.483																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(904-906)Aaa>Taa		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						80.0	70.0	73.0					15																	60641330		2203	4297	6500	SO:0001587	stop_gained	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60641330T>A	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.904A>T	15.37:g.60641330T>A	ENSP00000379342:p.Lys302*		Somatic				ANXA2_ENST00000421017.2_Nonsense_Mutation_p.K302*|ANXA2_ENST00000332680.4_Nonsense_Mutation_p.K320*|ANXA2_ENST00000451270.2_Nonsense_Mutation_p.K302*	p.K302*	NM_001136015.2	NP_001129487.1	WXS	Illumina GAIIx	Phase_I	P07355	ANXA2_HUMAN			13	1063	-			302					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Nonsense_Mutation	SNP	ENST00000396024.3	37	c.904A>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	38	6.710530	0.97780	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.785	0.69796	0.0:0.0:0.0:1.0	.	.	.	.	X	302;320;302;302	.	ENSP00000346032:K320X	K	-	1	0	ANXA2	58428622	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.143000	0.66587	0.533000	0.62120	AAA		0.483	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		3	30	3	30	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53190610	53190610	+	Silent	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr16:53190610T>A	ENST00000398510.3	+	1	696	c.609T>A	c.(607-609)tcT>tcA	p.S203S	CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000566029.1_Silent_p.S203S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	203					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAATGTTTCTGGTCCACATA	0.373																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(607-609)tcT>tcA		chromodomain helicase DNA binding protein 9							140.0	133.0	135.0					16																	53190610		1840	4093	5933	SO:0001819	synonymous_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190610T>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.609T>A	16.37:g.53190610T>A			Somatic				CHD9_ENST00000564845.1_Silent_p.S203S|CHD9_ENST00000447540.1_Silent_p.S203S|CHD9_ENST00000398510.3_Silent_p.S203S	p.S203S			WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			2	818	+		all_cancers(37;0.0212)	203					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37	c.609T>A																																																																																					0.373	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		26	55	26	55	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	SNP	T	T	C			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr17:7579592T>C	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGGGGGACTGTAGATGGGT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		25	Unknown(15)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	lung(8)|liver(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e4-2	Other conserved DNA damage response genes	tumor protein p53							139.0	135.0	137.0					17																	7579592		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579592T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-2A>G	17.37:g.7579592T>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.449	0.852564	0.17106	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.44330	D	0.997216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520317	0.924000	0.31332	0.022000	0.16811	0.019000	0.09904	1.202000	0.32271	1.873000	0.54277	0.459000	0.35465	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	41	38	41	38	---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839766	15839766	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:15839766A>G	ENST00000305899.3	+	1	933	c.913A>G	c.(913-915)Acc>Gcc	p.T305A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAAGAGGACCTTCCTCAG	0.527																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(913-915)Acc>Gcc		olfactory receptor, family 10, subfamily H, member 2							76.0	66.0	70.0					19																	15839766		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839766A>G	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.913A>G	19.37:g.15839766A>G	ENSP00000306095:p.Thr305Ala		Somatic					p.T305A	NM_013939.2	NP_039227.1	WXS	Illumina GAIIx	Phase_I	O60403	O10H2_HUMAN			1	933	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		305					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.913A>G	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.201244	0.00296	.	.	ENSG00000171942	ENST00000305899	T	0.37235	1.21	3.34	-0.736	0.11133	.	0.625472	0.14080	N	0.342768	T	0.13286	0.0322	N	0.11673	0.155	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28138	-1.0053	10	0.09338	T	0.73	.	3.6188	0.08087	0.509:0.2043:0.2866:0.0	.	305	O60403	O10H2_HUMAN	A	305	ENSP00000306095:T305A	ENSP00000306095:T305A	T	+	1	0	OR10H2	15700766	0.000000	0.05858	0.075000	0.20258	0.040000	0.13550	-0.084000	0.11268	0.242000	0.21303	0.427000	0.28365	ACC		0.527	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			3	25	3	25	---	---	---	---
COX7A1	1346	broad.mit.edu	37	19	36641901	36641901	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:36641901A>T	ENST00000292907.3	-	4	684	c.223T>A	c.(223-225)Tcc>Acc	p.S75T	COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T|AD001527.7_ENST00000604228.1_RNA	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	75					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGGGAAGGAGGCCCAGCCA	0.532																																						ENST00000292907.3																			0				endometrium(2)|large_intestine(1)	3						c.(223-225)Tcc>Acc		cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)							128.0	110.0	116.0					19																	36641901		2203	4300	6503	SO:0001583	missense	1346				generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr19:36641901A>T	BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.223T>A	19.37:g.36641901A>T	ENSP00000292907:p.Ser75Thr		Somatic				COX7A1_ENST00000437291.2_Missense_Mutation_p.S19T	p.S75T	NM_001864.2	NP_001855.1	WXS	Illumina GAIIx	Phase_I	P24310	CX7A1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	684	-	Esophageal squamous(110;0.162)		75						Missense_Mutation	SNP	ENST00000292907.3	37	c.223T>A	CCDS12490.1	.	.	.	.	.	.	.	.	.	.	a	19.87	3.906703	0.72868	.	.	ENSG00000161281	ENST00000292907	T	0.53857	0.6	4.54	2.33	0.28932	.	0.245129	0.34652	N	0.003789	T	0.53206	0.1782	.	.	.	0.31134	N	0.707376	P	0.45348	0.856	P	0.48454	0.578	T	0.59241	-0.7491	9	0.72032	D	0.01	-6.1717	8.4062	0.32616	0.6065:0.3935:0.0:0.0	.	75	P24310	CX7A1_HUMAN	T	75	ENSP00000292907:S75T	ENSP00000292907:S75T	S	-	1	0	COX7A1	41333741	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.824000	0.39072	0.221000	0.20879	0.523000	0.50628	TCC		0.532	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864		4	59	4	59	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38933032	38933032	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:38933032A>T	ENST00000359596.3	+	3	209	c.209A>T	c.(208-210)cAg>cTg	p.Q70L	RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L|RYR1_ENST00000355481.4_Missense_Mutation_p.Q70L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	70					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCTGGAGCAGTCCCTGTCT	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(208-210)cAg>cTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						72.0	62.0	65.0					19																	38933032		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38933032A>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.209A>T	19.37:g.38933032A>T	ENSP00000352608:p.Gln70Leu		Somatic				RYR1_ENST00000359596.3_Missense_Mutation_p.Q70L|RYR1_ENST00000360985.3_Missense_Mutation_p.Q70L	p.Q70L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	340	+	all_cancers(60;7.91e-06)		70					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.209A>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	a	11.95	1.790547	0.31685	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98493	-4.96;-4.96;-4.96	3.66	3.66	0.41972	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000005	D	0.97955	0.9327	M	0.77820	2.39	0.46774	D	0.999197	P;D	0.54047	0.93;0.964	B;P	0.52386	0.319;0.697	D	0.97880	1.0291	10	0.87932	D	0	.	10.3087	0.43695	1.0:0.0:0.0:0.0	.	70;70	P21817-2;P21817	.;RYR1_HUMAN	L	70	ENSP00000352608:Q70L;ENSP00000347667:Q70L;ENSP00000354254:Q70L	ENSP00000347667:Q70L	Q	+	2	0	RYR1	43624872	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.696000	0.91302	1.536000	0.49237	0.241000	0.17934	CAG		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	37	15	37	---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47278981	47278981	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:47278981T>A	ENST00000542575.2	-	8	2040	c.1412A>T	c.(1411-1413)aAt>aTt	p.N471I	SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	471					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACCTTCTACATTGAGGACGGT	0.552																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1411-1413)aAt>aTt		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						60.0	50.0	53.0					19																	47278981		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278981T>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1412A>T	19.37:g.47278981T>A	ENSP00000444408:p.Asn471Ile		Somatic				SLC1A5_ENST00000594991.1_Missense_Mutation_p.N295I|SLC1A5_ENST00000412532.2_Missense_Mutation_p.N243I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.N269I|FKRP_ENST00000600646.1_Intron	p.N471I	NM_005628.2	NP_005619.1	WXS	Illumina GAIIx	Phase_I	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2040	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	471					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1412A>T	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	25.0	4.588927	0.86851	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.80123	-1.34;-1.34;-1.34	4.7	4.7	0.59300	.	0.106398	0.64402	D	0.000006	D	0.93644	0.7970	H	0.98901	4.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95659	0.8713	10	0.87932	D	0	-14.1141	13.2956	0.60294	0.0:0.0:0.0:1.0	.	269;471;471	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	I	471;269;243;478	ENSP00000444408:N471I;ENSP00000406532:N269I;ENSP00000397924:N243I	ENSP00000303623:N478I	N	-	2	0	SLC1A5	51970821	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.026000	0.76455	1.978000	0.57642	0.449000	0.29647	AAT		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			10	29	10	29	---	---	---	---
IZUMO1	284359	broad.mit.edu	37	19	49248542	49248542	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr19:49248542T>A	ENST00000332955.2	-	3	786	c.239A>T	c.(238-240)gAg>gTg	p.E80V		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	80					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CAGTGTGGCCTCATCTGTCAG	0.498																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(238-240)gAg>gTg		izumo sperm-egg fusion 1							130.0	110.0	117.0					19																	49248542		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49248542T>A	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.239A>T	19.37:g.49248542T>A	ENSP00000327786:p.Glu80Val		Somatic					p.E80V	NM_182575.2	NP_872381.2	WXS	Illumina GAIIx	Phase_I	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	786	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	80					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.239A>T	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829731	0.32329	.	.	ENSG00000182264	ENST00000332955	T	0.20738	2.05	5.1	4.07	0.47477	.	0.550470	0.16324	N	0.219418	T	0.38268	0.1034	L	0.58101	1.795	0.19575	N	0.999963	D	0.76494	0.999	D	0.66497	0.944	T	0.12941	-1.0528	10	0.87932	D	0	-18.9065	9.266	0.37641	0.0:0.0:0.182:0.818	.	80	Q8IYV9	IZUM1_HUMAN	V	80	ENSP00000327786:E80V	ENSP00000327786:E80V	E	-	2	0	IZUMO1	53940354	0.690000	0.27699	0.027000	0.17364	0.039000	0.13416	1.483000	0.35497	0.886000	0.36113	0.402000	0.26972	GAG		0.498	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		3	24	3	24	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581394	17581394	+	Silent	SNP	G	G	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:17581394G>T	ENST00000246069.7	+	2	361	c.15G>T	c.(13-15)gtG>gtT	p.V5V	DSTN_ENST00000474024.1_5'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	5	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CCTCAGGAGTGCAAGTAGCTG	0.323																																						ENST00000246069.7																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(13-15)gtG>gtT		destrin (actin depolymerizing factor)							29.0	28.0	28.0					20																	17581394		2203	4299	6502	SO:0001819	synonymous_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581394G>T	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.15G>T	20.37:g.17581394G>T			Somatic				DSTN_ENST00000474024.1_5'UTR	p.V5V	NM_006870.3	NP_006861.1	WXS	Illumina GAIIx	Phase_I	P60981	DEST_HUMAN			2	361	+						ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Silent	SNP	ENST00000246069.7	37	c.15G>T	CCDS13127.1																																																																																				0.323	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		3	23	3	23	---	---	---	---
CD40	958	broad.mit.edu	37	20	44756996	44756996	+	Splice_Site	SNP	A	A	T			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr20:44756996A>T	ENST00000372285.3	+	8	746	c.674A>T	c.(673-675)aAg>aTg	p.K225M	CD40_ENST00000372276.3_Splice_Site_p.*204Y|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	225					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				CCAACCAATAAGGTAGGTCAC	0.468									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(673-675)aAg>aTg		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						52.0	52.0	52.0					20																	44756996		2203	4300	6503	SO:0001630	splice_region_variant	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756996A>T	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.675+1A>T	20.37:g.44756996A>T			Somatic	OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Splice_Site_p.*204Y	p.K225M	NM_001250.4	NP_001241.1	WXS	Illumina GAIIx	Phase_I	P25942	TNR5_HUMAN			8	746	+		Myeloproliferative disorder(115;0.0122)	225					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Splice_Site	SNP	ENST00000372285.3	37	c.674A>T	CCDS13393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.980|6.980	0.550873|0.550873	0.13374|0.13374	.|.	.|.	ENSG00000101017|ENSG00000101017	ENST00000372285|ENST00000372276	T|.	0.76839|.	-1.05|.	5.02|5.02	3.91|3.91	0.45181|0.45181	.|.	13.097300|.	0.00166|.	N|.	0.000000|.	T|.	0.35566|.	0.0936|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|.	0.63880|.	0.993|.	P|.	0.49999|.	0.628|.	T|.	0.20240|.	-1.0281|.	9|.	0.87932|.	D|.	0|.	-1.183|-1.183	7.8584|7.8584	0.29495|0.29495	0.816:0.0:0.0:0.184|0.816:0.0:0.0:0.184	.|.	225|.	P25942|.	TNR5_HUMAN|.	M|Y	225|204	ENSP00000361359:K225M|.	ENSP00000361359:K225M|.	K|X	+|+	2|3	0|2	CD40|CD40	44190403|44190403	0.994000|0.994000	0.37717|0.37717	0.974000|0.974000	0.42286|0.42286	0.182000|0.182000	0.23217|0.23217	2.486000|2.486000	0.45259|0.45259	0.895000|0.895000	0.36342|0.36342	0.391000|0.391000	0.25812|0.25812	AAG|TAA		0.468	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250	Missense_Mutation	6	12	6	12	---	---	---	---
HS6ST2	90161	broad.mit.edu	37	X	131762490	131762490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chrX:131762490G>A	ENST00000370836.2	-	4	1994	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	527					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAATGGGTCTGAAGGAGCCTT	0.498																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(1579-1581)Cag>Tag		heparan sulfate 6-O-sulfotransferase 2							78.0	75.0	76.0					X																	131762490		1952	4117	6069	SO:0001587	stop_gained	90161					integral to membrane	sulfotransferase activity	g.chrX:131762490G>A	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1579C>T	X.37:g.131762490G>A	ENSP00000359873:p.Gln527*		Somatic				HS6ST2_ENST00000521489.1_Nonsense_Mutation_p.Q567*|HS6ST2_ENST00000406696.3_Nonsense_Mutation_p.Q253*|HS6ST2_ENST00000370833.2_Nonsense_Mutation_p.Q421*	p.Q527*	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			4	1994	-	Acute lymphoblastic leukemia(192;0.000127)		527					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Nonsense_Mutation	SNP	ENST00000370836.2	37	c.1579C>T	CCDS48169.1	.	.	.	.	.	.	.	.	.	.	G	38	7.000807	0.97994	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	.	.	.	5.18	5.18	0.71444	.	0.379769	0.27759	N	0.017966	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.096	14.55	0.68059	0.0:0.0:1.0:0.0	.	.	.	.	X	381;527;567;253;421	.	ENSP00000359870:Q421X	Q	-	1	0	HS6ST2	131590171	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.742000	0.68646	2.544000	0.85801	0.594000	0.82650	CAG		0.498	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		5	13	5	13	---	---	---	---
SI	6476	broad.mit.edu	37	3	164712161	164712161	+	Frame_Shift_Del	DEL	A	A	-	rs148726149		TCGA-2A-A8VT-01A-11D-A377-08	TCGA-2A-A8VT-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	517cb9af-54ec-4a7e-b093-16081dcfa7e1	076097b4-8ca9-433c-bd04-799c7e1da5f9	g.chr3:164712161delA	ENST00000264382.3	-	41	4787	c.4725delT	c.(4723-4725)tttfs	p.F1575fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1575	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACATTTCAGCAAAAGTTTCAT	0.328										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4723-4725)tttfs		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						106.0	111.0	109.0					3																	164712161		2203	4300	6503	SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712161delA	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4725delT	3.37:g.164712161delA	ENSP00000264382:p.Phe1575fs	HNSCC(35;0.089)	Somatic					p.F1575fs	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			41	4787	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1575			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Del	DEL	ENST00000264382.3	37	c.4725delT	CCDS3196.1																																																																																				0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	187	7	187	---	---	---	---
