#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SF1	7536	broad.mit.edu	37	11	64535651	64535651	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr11:64535651G>A	ENST00000377390.3	-	9	1332	c.995C>T	c.(994-996)aCc>aTc	p.T332I	SF1_ENST00000334944.5_Missense_Mutation_p.T332I|SF1_ENST00000433274.2_Missense_Mutation_p.T306I|SF1_ENST00000227503.9_Missense_Mutation_p.T332I|SF1_ENST00000422298.2_Missense_Mutation_p.T217I|SF1_ENST00000377387.1_Missense_Mutation_p.T457I|SF1_ENST00000377394.3_Missense_Mutation_p.T332I|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	332	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGGCCCAGAGGTGGAGCCCAC	0.607											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(994-996)aCc>aTc		splicing factor 1							74.0	64.0	67.0					11																	64535651		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64535651G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.995C>T	11.37:g.64535651G>A	ENSP00000366607:p.Thr332Ile		OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1077	SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.T457I|SF1_ENST00000334944.5_Missense_Mutation_p.T332I|SF1_ENST00000433274.2_Missense_Mutation_p.T306I|SF1_ENST00000377394.3_Missense_Mutation_p.T332I|SF1_ENST00000422298.2_Missense_Mutation_p.T217I|SF1_ENST00000227503.9_Missense_Mutation_p.T332I	p.T332I	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			9	1332	-			332			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.995C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.290045	0.40494	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.41	4.49	0.54785	.	0.625343	0.16313	N	0.219921	T	0.29288	0.0729	N	0.19112	0.55	0.33357	D	0.571787	B;B;B;B;B;P	0.36535	0.182;0.017;0.006;0.013;0.022;0.557	B;B;B;B;B;B	0.36186	0.029;0.002;0.002;0.044;0.095;0.219	T	0.41342	-0.9514	10	0.34782	T	0.22	.	12.4601	0.55727	0.0:0.3236:0.6764:0.0	.	217;332;332;332;332;457	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	I	457;332;332;332;332;217;306;53	ENSP00000366604:T457I;ENSP00000366607:T332I;ENSP00000227503:T332I;ENSP00000366611:T332I;ENSP00000334414:T332I;ENSP00000413084:T217I;ENSP00000396793:T306I;ENSP00000419062:T53I	ENSP00000227503:T332I	T	-	2	0	SF1	64292227	0.059000	0.20769	0.977000	0.42913	0.979000	0.70002	1.263000	0.33004	1.496000	0.48567	0.561000	0.74099	ACC		0.607	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		3	70	0	0	0	1	0	3	70				
MYO7B	4648	broad.mit.edu	37	2	128380909	128380909	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr2:128380909G>T	ENST00000409816.2	+	27	3732	c.3700G>T	c.(3700-3702)Gac>Tac	p.D1234Y	MYO7B_ENST00000409090.1_Missense_Mutation_p.D87Y|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1234Y|MYO7B_ENST00000389524.4_Missense_Mutation_p.D1234Y|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1234	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCCTCAGCGACCACCTGGG	0.632																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(3700-3702)Gac>Tac		myosin VIIB							51.0	61.0	58.0					2																	128380909		2144	4238	6382	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128380909G>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3700G>T	2.37:g.128380909G>T	ENSP00000386461:p.Asp1234Tyr					MYO7B_ENST00000428314.1_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1234Y|MYO7B_ENST00000409090.1_Missense_Mutation_p.D87Y	p.D1234Y			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	28	3753	+	Colorectal(110;0.1)		1234			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.3700G>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.572391	0.86542	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000437387;ENST00000409090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.82	4.82	0.62117	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.87827	2.91	0.53688	D	0.999977	D	0.89917	1.0	D	0.80764	0.994	D	0.90998	0.4840	10	0.59425	D	0.04	.	16.6443	0.85172	0.0:0.0:1.0:0.0	.	1234	Q6PIF6	MYO7B_HUMAN	Y	1234;1234;87;1234;87;87	ENSP00000374175:D1234Y;ENSP00000415090:D1234Y;ENSP00000386461:D1234Y;ENSP00000404927:D87Y;ENSP00000386850:D87Y	ENSP00000272666:D87Y	D	+	1	0	MYO7B	128097379	1.000000	0.71417	0.912000	0.35992	0.839000	0.47603	9.381000	0.97205	2.217000	0.71921	0.491000	0.48974	GAC		0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		8	30	1	0	3.09899e-07	1	3.3469e-07	8	30				
RP11-24M17.5	0	broad.mit.edu	37	15	76067987	76067987	+	RNA	SNP	A	A	G	rs34243492	byFrequency	TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr15:76067987A>G	ENST00000395215.3	+	0	94																											GAAGAAACTCAACAGAGTAAA	0.537													.|||	1247	0.249002	0.149	0.3602	5008	,	,		15530	0.2391		0.3042	False		,,,				2504	0.2587					ENST00000395215.3																			0																																																			0							g.chr15:76067987A>G																													15.37:g.76067987A>G														0	94	+									RNA	SNP	ENST00000395215.3	37			549	0.25137362637362637	74	0.15040650406504066	119	0.3287292817679558	117	0.20454545454545456	239	0.3153034300791557	.	6.719	0.501314	0.12822	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38520	-0.9657	6	0.02654	T	1	.	5.3043	0.15795	0.2401:0.0:0.7599:0.0	rs34243492	18	B4DZE6	.	R	18	.	ENSP00000378641:Q18R	Q	+	2	0	AC019294.2	73855042	1.000000	0.71417	0.718000	0.30602	0.025000	0.11179	3.368000	0.52357	-0.118000	0.11851	-1.680000	0.00737	CAA		0.537	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	55	0	0	0	1	0	3	55				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	31	0	0	0	1	0	3	31				
L1CAM	3897	broad.mit.edu	37	X	153130322	153130322	+	Silent	SNP	G	G	A	rs149420127		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chrX:153130322G>A	ENST00000370060.1	-	23	3189	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000538883.1_Silent_p.G1002G|L1CAM_ENST00000370057.3_Silent_p.G1000G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000361981.3_Silent_p.G995G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1000	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.G1000G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCACCAGGGCCCTCTTTGG	0.632																																						ENST00000370060.1																			1	Substitution - coding silent(1)	p.G1000G(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2998-3000)ggC>ggT		L1 cell adhesion molecule		G	,,	0,3835		0,0,1632,571	121.0	113.0	115.0		3000,2985,3000	-1.8	0.5	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	1000/1258,995/1249,1000/1254	153130322	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130322G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3000C>T	X.37:g.153130322G>A						L1CAM_ENST00000361981.3_Silent_p.G995G|L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000538883.1_Silent_p.G1002G|L1CAM_ENST00000370057.3_Silent_p.G1000G	p.G1000G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			23	3189	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1000			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.3000C>T	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	261	0	0	0	1	0	6	261				
GPR115	221393	broad.mit.edu	37	6	47681877	47681877	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr6:47681877G>T	ENST00000283303.2	+	6	1154	c.896G>T	c.(895-897)gGg>gTg	p.G299V	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.G299V|GPR115_ENST00000371220.1_Missense_Mutation_p.G356V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	299					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCAACCTTGGGGGCTATCCTG	0.468																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(895-897)gGg>gTg		G protein-coupled receptor 115							54.0	59.0	57.0					6																	47681877		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681877G>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.896G>T	6.37:g.47681877G>T	ENSP00000283303:p.Gly299Val					GPR115_ENST00000371220.1_Missense_Mutation_p.G356V|GPR115_ENST00000327753.3_Missense_Mutation_p.G299V	p.G299V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1154	+			299					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.896G>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169392	0.38315	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.39056	1.34;1.1;1.1	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	M	0.82323	2.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.64732	-0.6338	10	0.87932	D	0	-17.887	11.5523	0.50726	0.0819:0.0:0.9181:0.0	.	299	Q8IZF3	GP115_HUMAN	V	356;299;299	ENSP00000360264:G356V;ENSP00000328319:G299V;ENSP00000283303:G299V	ENSP00000283303:G299V	G	+	2	0	GPR115	47789836	0.999000	0.42202	0.998000	0.56505	0.260000	0.26232	3.083000	0.50136	2.578000	0.87016	0.655000	0.94253	GGG		0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		22	26	1	0	1.50039e-11	1	1.76133e-11	22	26				
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:27099905C>A	ENST00000324856.7	+	15	4155	c.3784C>A	c.(3784-3786)Cgt>Agt	p.R1262S	ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Missense_Mutation_p.R879S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1262					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000540690.1				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411								AT rich interactive domain 1A (SWI-like)							64.0	61.0	62.0					1																	27099905		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099905C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3784C>A	1.37:g.27099905C>A	ENSP00000320485:p.Arg1262Ser					ARID1A_ENST00000374152.2_Missense_Mutation_p.R879S|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1262S|ARID1A_ENST00000324856.7_Missense_Mutation_p.R1262S				O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	0	93	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)						D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Translation_Start_Site	SNP	ENST00000324856.7	37		CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.28|12.28	1.889343|1.889343	0.33348|0.33348	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	T;T;T|.	0.03212|.	4.16;4.05;4.01|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70971|.	0.3285|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.48162|.	0.891;0.848;0.906;0.848|.	B;B;B;B|.	0.42462|.	0.203;0.217;0.388;0.274|.	T|.	0.71384|.	-0.4609|.	10|.	0.16420|0.51188	T|T	0.52|0.08	-0.9968|-0.9968	18.5413|18.5413	0.91029|0.91029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	879;1262;1262;915|.	O14497-3;O14497;O14497-2;Q4LE49|.	.;ARI1A_HUMAN;.;.|.	S|X	1262;1262;879|158	ENSP00000320485:R1262S;ENSP00000387636:R1262S;ENSP00000363267:R879S|.	ENSP00000320485:R1262S|ENSP00000390317:S158X	R|S	+|+	1|2	0|0	ARID1A|ARID1A	26972492|26972492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	4.352000|4.352000	0.59404|0.59404	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	64	1	0	1	1	1	3	64				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	73	0	0	0	1	0	4	73				
STATH	6779	broad.mit.edu	37	4	70865527	70865527	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr4:70865527G>A	ENST00000246895.4	+	4	213		c.e4+1		STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						AAGATTCGGTGTAAGTGTTCT	0.299																																						ENST00000246895.4																			0				lung(2)|skin(1)	3						c.e4+1		statherin							135.0	138.0	137.0					4																	70865527		2203	4298	6501	SO:0001630	splice_region_variant	6779				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel	g.chr4:70865527G>A		CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.102+1G>A	4.37:g.70865527G>A						STATH_ENST00000381060.2_Intron		NM_003154.2	NP_003145.1	P02808	STAT_HUMAN			4	213	+								A6NKE9|B2R4F8	Splice_Site	SNP	ENST00000246895.4	37		CCDS3533.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070627	0.20147	.	.	ENSG00000126549	ENST00000246895	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.47476	D	0.999437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3831	0.44123	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STATH	70900116	0.000000	0.05858	0.227000	0.23927	0.063000	0.16089	0.078000	0.14761	2.133000	0.65898	0.655000	0.94253	.		0.299	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154	Intron	16	29	0	0	0	1	0	16	29				
XRCC3	7517	broad.mit.edu	37	14	104169529	104169529	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr14:104169529A>T	ENST00000553264.1	-	5	1338	c.542T>A	c.(541-543)aTc>aAc	p.I181N	XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000445556.1_Missense_Mutation_p.I181N|XRCC3_ENST00000554913.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555055.1_Missense_Mutation_p.I181N|XRCC3_ENST00000352127.7_Missense_Mutation_p.I181N|XRCC3_ENST00000555832.1_5'UTR			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	181					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CACGTGCTCGATGAAGATCTG	0.612								Direct reversal of damage;Homologous recombination																														ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(541-543)aTc>aAc	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							55.0	43.0	47.0					14																	104169529		2196	4292	6488	SO:0001583	missense	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104169529A>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.542T>A	14.37:g.104169529A>T	ENSP00000451974:p.Ile181Asn					XRCC3_ENST00000554913.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555055.1_Missense_Mutation_p.I181N|XRCC3_ENST00000555832.1_5'UTR|XRCC3_ENST00000445556.1_Missense_Mutation_p.I181N|XRCC3_ENST00000352127.7_Missense_Mutation_p.I181N|XRCC3_ENST00000554974.1_Intron	p.I181N			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	5	1338	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	181					O43568|Q9BU18	Missense_Mutation	SNP	ENST00000553264.1	37	c.542T>A	CCDS9984.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.867751	0.51588	.	.	ENSG00000126215	ENST00000554913;ENST00000352127;ENST00000553264;ENST00000555055;ENST00000445556	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.7	4.7	0.59300	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.348228	0.28760	N	0.014229	T	0.80675	0.4668	M	0.80616	2.505	0.41939	D	0.990606	D	0.61080	0.989	D	0.66351	0.943	T	0.82748	-0.0304	10	0.49607	T	0.09	-2.4139	13.8478	0.63479	1.0:0.0:0.0:0.0	.	181	O43542	XRCC3_HUMAN	N	181	ENSP00000451362:I181N;ENSP00000343392:I181N;ENSP00000451974:I181N;ENSP00000452598:I181N;ENSP00000412990:I181N	ENSP00000343392:I181N	I	-	2	0	XRCC3	103239282	0.971000	0.33674	0.055000	0.19348	0.136000	0.21042	8.782000	0.91809	1.737000	0.51674	0.459000	0.35465	ATC		0.612	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		4	5	0	0	0	1	0	4	5				
NOC2L	26155	broad.mit.edu	37	1	887945	887945	+	Missense_Mutation	SNP	G	G	T	rs369677542		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:887945G>T	ENST00000327044.6	-	10	1087	c.1038C>A	c.(1036-1038)ttC>ttA	p.F346L	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	346					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGGCGAGGTGAACTTGCAGT	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(1036-1038)ttC>ttA		nucleolar complex associated 2 homolog (S. cerevisiae)							82.0	82.0	82.0					1																	887945		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:887945G>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1038C>A	1.37:g.887945G>T	ENSP00000317992:p.Phe346Leu						p.F346L	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	10	1087	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	346					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1038C>A	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333351	0.60853	.	.	ENSG00000188976	ENST00000327044	T	0.65364	-0.15	5.06	4.15	0.48705	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.65975	2.015	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76903	-0.2787	10	0.87932	D	0	-30.347	10.9832	0.47508	0.159:0.0:0.841:0.0	.	346;346;113	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	L	346	ENSP00000317992:F346L	ENSP00000317992:F346L	F	-	3	2	NOC2L	877808	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	2.448000	0.44926	1.104000	0.41587	0.462000	0.41574	TTC		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		4	99	1	0	0.00909568	1	0.00944551	4	99				
SIGLEC8	27181	broad.mit.edu	37	19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T	rs200891335		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr19:51960834C>T	ENST00000321424.3	-	2	680	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	205	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17273	0.0		0.0	False		,,,				2504	0.0					ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(613-615)cGc>cAc		sialic acid binding Ig-like lectin 8		C	HIS/ARG	2,4404		0,2,2201	50.0	50.0	50.0		614	-5.4	0.0	19		50	0,8600		0,0,4300	no	missense	SIGLEC8	NM_014442.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	205/500	51960834	2,13004	2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960834C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.614G>A	19.37:g.51960834C>T	ENSP00000321077:p.Arg205His					SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	p.R205H	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	680	-		all_neural(266;0.0199)	205			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.614G>A	CCDS33086.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	0.085	-1.177021	0.01646	4.54E-4	0.0	ENSG00000105366	ENST00000321424	T	0.21932	1.98	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.843930	0.03177	N	0.171557	T	0.08582	0.0213	N	0.16166	0.38	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.23190	-1.0195	10	0.12103	T	0.63	.	0.1809	0.00123	0.2937:0.1967:0.149:0.3607	.	205	Q9NYZ4	SIGL8_HUMAN	H	205	ENSP00000321077:R205H	ENSP00000321077:R205H	R	-	2	0	SIGLEC8	56652646	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.339000	0.00506	-1.836000	0.01190	-0.442000	0.05670	CGC		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		21	49	0	0	0	1	0	21	49				
ATG2B	55102	broad.mit.edu	37	14	96788936	96788936	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr14:96788936G>C	ENST00000359933.4	-	17	3570	c.2677C>G	c.(2677-2679)Cta>Gta	p.L893V	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	893					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTCTTCTTAGATCACAAACA	0.398																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2677-2679)Cta>Gta		autophagy related 2B							96.0	89.0	91.0					14																	96788936		1903	4115	6018	SO:0001583	missense	55102							g.chr14:96788936G>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2677C>G	14.37:g.96788936G>C	ENSP00000353010:p.Leu893Val						p.L893V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	17	3570	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	893					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2677C>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334991	0.60853	.	.	ENSG00000066739	ENST00000359933	T	0.48201	0.82	5.87	4.8	0.61643	.	0.204801	0.32314	U	0.006269	T	0.40067	0.1102	L	0.52573	1.65	0.34944	D	0.750628	B	0.25719	0.132	B	0.23716	0.048	T	0.52646	-0.8548	10	0.62326	D	0.03	.	8.4015	0.32590	0.1236:0.0:0.7169:0.1594	.	893	Q96BY7	ATG2B_HUMAN	V	893	ENSP00000353010:L893V	ENSP00000353010:L893V	L	-	1	2	ATG2B	95858689	1.000000	0.71417	0.835000	0.33067	0.900000	0.52787	2.618000	0.46393	2.785000	0.95823	0.655000	0.94253	CTA		0.398	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		9	36	0	0	0	1	0	9	36				
WDTC1	23038	broad.mit.edu	37	1	27623608	27623608	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:27623608G>C	ENST00000319394.3	+	11	1554	c.1019G>C	c.(1018-1020)aGc>aCc	p.S340T	WDTC1_ENST00000361771.3_Missense_Mutation_p.S339T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	340					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CACCTTCATAGCAATGGCTTC	0.557											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1018-1020)aGc>aCc		WD and tetratricopeptide repeats 1							131.0	97.0	108.0					1																	27623608		2203	4300	6503	SO:0001583	missense	23038						protein binding	g.chr1:27623608G>C	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1019G>C	1.37:g.27623608G>C	ENSP00000317971:p.Ser340Thr		OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795	WDTC1_ENST00000361771.3_Missense_Mutation_p.S339T	p.S340T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	11	1554	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	340					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37	c.1019G>C		.	.	.	.	.	.	.	.	.	.	G	14.64	2.595794	0.46318	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.61627	0.09;0.11	5.73	5.73	0.89815	WD40 repeat-like-containing domain (1);	0.135817	0.64402	D	0.000002	T	0.50292	0.1607	N	0.08118	0	0.48452	D	0.999653	B;B	0.26041	0.14;0.0	P;B	0.45449	0.481;0.001	T	0.45614	-0.9249	10	0.11794	T	0.64	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	340;339	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	T	340;339	ENSP00000317971:S340T;ENSP00000355317:S339T	ENSP00000317971:S340T	S	+	2	0	WDTC1	27496195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.734000	0.74801	2.701000	0.92244	0.655000	0.94253	AGC		0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		3	19	0	0	0	1	0	3	19				
SIRPG	55423	broad.mit.edu	37	20	1629760	1629760	+	Missense_Mutation	SNP	C	C	T	rs202204320		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr20:1629760C>T	ENST00000303415.3	-	2	432	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SIRPG_ENST00000344103.4_Missense_Mutation_p.R123Q|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R123Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000381580.1_Missense_Mutation_p.R90Q	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	123	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCTCCCTTTTCGAAACTTCAC	0.498																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(268-270)cGa>cAa		signal-regulatory protein gamma		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	245.0	209.0	221.0		368,368,368	-2.9	0.1	20		221	2,8598		0,2,4298	no	missense,missense,missense	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	43,43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	123/277,123/388,123/171	1629760	3,13003	2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629760C>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.368G>A	20.37:g.1629760C>T	ENSP00000305529:p.Arg123Gln					SIRPG_ENST00000344103.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000381583.2_Missense_Mutation_p.R123Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R123Q|SIRPG_ENST00000303415.3_Missense_Mutation_p.R123Q	p.R90Q			Q9P1W8	SIRPG_HUMAN			2	448	-			123			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.269G>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	4.453	0.083926	0.08583	2.27E-4	2.33E-4	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	1.93	-2.9	0.05648	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.960224	0.08559	N	0.927852	T	0.24736	0.0600	N	0.02420	-0.555	0.09310	N	1	P;B;B	0.35363	0.497;0.015;0.032	B;B;B	0.28305	0.088;0.003;0.008	T	0.17258	-1.0375	10	0.07644	T	0.81	.	6.3465	0.21353	0.0:0.541:0.0:0.459	.	123;123;123	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	Q	90;123;123;123;123	ENSP00000370992:R90Q;ENSP00000342759:R123Q;ENSP00000305529:R123Q;ENSP00000370995:R123Q;ENSP00000216927:R123Q	ENSP00000216927:R123Q	R	-	2	0	SIRPG	1577760	0.000000	0.05858	0.121000	0.21740	0.654000	0.38779	-2.136000	0.01305	-0.797000	0.04450	0.195000	0.17529	CGA		0.498	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		6	142	0	0	0	1	0	6	142				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	6	0	0	0	1	0	2	6				
PRPF38A	84950	broad.mit.edu	37	1	52874249	52874249	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr1:52874249G>A	ENST00000257181.9	+	3	485	c.299G>A	c.(298-300)cGc>cAc	p.R100H	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	100					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						AGGTATGTCCGCATGCTGGGG	0.443																																						ENST00000257181.9																			0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(298-300)cGc>cAc		pre-mRNA processing factor 38A							97.0	90.0	92.0					1																	52874249		2203	4300	6503	SO:0001583	missense	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52874249G>A	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.299G>A	1.37:g.52874249G>A	ENSP00000257181:p.Arg100His					PRPF38A_ENST00000474048.1_Intron	p.R100H	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN			3	485	+			100					Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	c.299G>A	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868862	0.91587	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.37	5.37	0.77165	.	0.097798	0.64402	D	0.000001	D	0.87759	0.6258	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91304	0.5069	9	0.87932	D	0	-13.099	19.1028	0.93281	0.0:0.0:1.0:0.0	.	100	Q8NAV1	PR38A_HUMAN	H	100	.	ENSP00000257181:R100H	R	+	2	0	PRPF38A	52646837	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.722000	0.98770	2.507000	0.84556	0.557000	0.71058	CGC		0.443	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		4	89	0	0	0	1	0	4	89				
ARSF	416	broad.mit.edu	37	X	3030306	3030306	+	Silent	SNP	C	C	T			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chrX:3030306C>T	ENST00000381127.1	+	11	1703	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	ARSF_ENST00000537104.1_Silent_p.F494F|ARSF_ENST00000359361.2_Silent_p.F494F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	494					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGATGTTTCGGAGAACAGG	0.572																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(1480-1482)ttC>ttT		arylsulfatase F							110.0	102.0	105.0					X																	3030306		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030306C>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1482C>T	X.37:g.3030306C>T						ARSF_ENST00000359361.2_Silent_p.F494F|ARSF_ENST00000537104.1_Silent_p.F494F	p.F494F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			11	1703	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	494					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1482C>T	CCDS14123.1																																																																																				0.572	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			5	152	0	0	0	1	0	5	152				
MUC16	94025	broad.mit.edu	37	19	9057069	9057069	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr19:9057069G>A	ENST00000397910.4	-	3	30580	c.30377C>T	c.(30376-30378)cCa>cTa	p.P10126L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10128	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCTTGGATGGCTCCGAGTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30376-30378)cCa>cTa		mucin 16, cell surface associated							70.0	69.0	69.0					19																	9057069		1936	4134	6070	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057069G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30377C>T	19.37:g.9057069G>A	ENSP00000381008:p.Pro10126Leu						p.P10126L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30580	-			10128			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30377C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.544	0.285200	0.10513	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.95	-0.532	0.11890	.	.	.	.	.	T	0.14313	0.0346	N	0.19112	0.55	.	.	.	B	0.23650	0.089	B	0.20184	0.028	T	0.19549	-1.0302	8	0.87932	D	0	.	5.6686	0.17709	0.387:0.0:0.613:0.0	.	10126	B5ME49	.	L	10126	ENSP00000381008:P10126L	ENSP00000381008:P10126L	P	-	2	0	MUC16	8918069	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.026000	0.12392	-0.002000	0.14469	-0.253000	0.11424	CCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	62	0	0	0	1	0	6	62				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	63	0	0	0	1	0	31	63				
FANCD2	2177	broad.mit.edu	37	3	10065426	10065426	+	5'Flank	SNP	C	C	T	rs6803517	byFrequency	TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr3:10065426C>T	ENST00000419585.1	+	0	0				FANCD2_ENST00000383807.1_5'Flank|CIDECP_ENST00000432401.1_RNA|FANCD2_ENST00000383806.1_5'Flank|FANCD2_ENST00000287647.3_5'Flank			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTGGGTGCCTCGTCCCCTGCA	0.502			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				c|||	1042	0.208067	0.4607	0.1657	5008	,	,		15931	0.0476		0.1372	False		,,,				2504	0.135					ENST00000432401.1			yes	Rec		Fanconi anaemia D2	3	3p26	2177		"""Fanconi anemia, complementation group D2"""			L					0																																																	SO:0001631	upstream_gene_variant	0		Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)				g.chr3:10065426C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670		3.37:g.10065426C>T	Exception_encountered													0	322	-								Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	RNA	SNP	ENST00000419585.1	37		CCDS33696.1																																																																																				0.502	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			3	57	0	0	0	1	0	3	57				
TNRC6B	23112	broad.mit.edu	37	22	40712010	40712010	+	Silent	SNP	C	C	G			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr22:40712010C>G	ENST00000454349.2	+	21	5179	c.4968C>G	c.(4966-4968)acC>acG	p.T1656T	TNRC6B_ENST00000301923.9_Silent_p.T852T|TNRC6B_ENST00000402203.1_Silent_p.T852T|TNRC6B_ENST00000335727.9_Silent_p.T1546T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1656	RRM.|Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACAATCTCACCCCACAGGTAA	0.453																																						ENST00000454349.2																			0				breast(1)	1						c.(4966-4968)acC>acG		trinucleotide repeat containing 6B							105.0	92.0	96.0					22																	40712010		1884	4127	6011	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40712010C>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4968C>G	22.37:g.40712010C>G						TNRC6B_ENST00000335727.8_Silent_p.T1546T|TNRC6B_ENST00000301923.9_Silent_p.T852T|TNRC6B_ENST00000402203.1_Silent_p.T852T	p.T1656T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			21	5179	+			1656			RRM.		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.4968C>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	4.237	0.042857	0.08196	.	.	ENSG00000100354	ENST00000446273	.	.	.	5.65	3.49	0.39957	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51276	-0.8726	4	.	.	.	-8.5112	8.8498	0.35192	0.0:0.2078:0.0:0.7922	.	.	.	.	R	1342	.	.	P	+	2	0	TNRC6B	39041956	0.991000	0.36638	1.000000	0.80357	0.559000	0.35586	0.201000	0.17276	0.389000	0.25086	-0.414000	0.06135	CCC		0.453	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				6	31	0	0	0	1	0	6	31				
DLX2	1746	broad.mit.edu	37	2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-	rs376692475		TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-138)del		distal-less homeobox 2				19,76,3319		3,0,13,8,60,1623						4.5	1.0			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967129_172967131delGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del					DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	497_499	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Del	DEL	ENST00000234198.4	37	c.136_138delAGC	CCDS2248.1																																																																																				0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			2	4						2	4	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	141015112	141015112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3V4-01A-11D-A22Z-08	TCGA-DJ-A3V4-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccdc15b4-f2dc-4dd6-a5be-a20ae9c91482	11790be6-dc18-46cf-80b9-071c1a1a611c	g.chr9:141015112delC	ENST00000371372.1	+	46	6413	c.6268delC	c.(6268-6270)cccfs	p.P2091fs	CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.P2092fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.P2090fs|CACNA1B_ENST00000277549.5_Frame_Shift_Del_p.P1285fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.P2089fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.P2091fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2091					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCGGGGCTGCCCCCGGGAGA	0.731																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3850-3852)ccfs		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						3.0	4.0	4.0					9																	141015112		1601	3707	5308	SO:0001589	frameshift_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015112delC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6268delC	9.37:g.141015112delC	ENSP00000360423:p.Pro2091fs					CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.P2091fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.P2092fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.P2090fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.P2089fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.P2091fs	p.P1285fs			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	46	6419	+	all_cancers(76;0.166)		2091					B1AQK5	Frame_Shift_Del	DEL	ENST00000371372.1	37	c.3850delC	CCDS59522.1																																																																																				0.731	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		2	4						2	4	---	---	---	---
