#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
SCN1A	6323	broad.mit.edu	37	2	166900318	166900318	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr2:166900318A>C	ENST00000303395.4	-	11	1903	c.1904T>G	c.(1903-1905)tTt>tGt	p.F635C	SCN1A_ENST00000409050.1_Missense_Mutation_p.F635C|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F635C|SCN1A_ENST00000423058.2_Missense_Mutation_p.F635C|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	635					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCGCTGGAAACACTGCCAG	0.542																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1903-1905)tTt>tGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						168.0	136.0	147.0					2																	166900318		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900318A>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1904T>G	2.37:g.166900318A>C	ENSP00000303540:p.Phe635Cys					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F635C|SCN1A_ENST00000375405.3_Missense_Mutation_p.F635C|SCN1A_ENST00000303395.4_Missense_Mutation_p.F635C|AC010127.3_ENST00000595268.1_RNA	p.F635C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1921	-			635					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1904T>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945439	0.53079	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.05	5.05	0.67936	Domain of unknown function DUF3451 (1);	0.477131	0.21469	N	0.074040	D	0.86527	0.5954	N	0.22421	0.69	0.37822	D	0.928415	P;P;B	0.43885	0.589;0.82;0.003	B;P;B	0.44422	0.416;0.449;0.004	D	0.88586	0.3140	10	0.46703	T	0.11	.	15.0904	0.72188	1.0:0.0:0.0:0.0	.	635;635;635	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	635	ENSP00000407030:F635C;ENSP00000303540:F635C;ENSP00000364554:F635C;ENSP00000386312:F635C	ENSP00000303540:F635C	F	-	2	0	SCN1A	166608564	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	6.273000	0.72581	2.026000	0.59711	0.459000	0.35465	TTT		0.542	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	67	0	0	0	1	0	6	67				
VANGL1	81839	broad.mit.edu	37	1	116233873	116233873	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:116233873T>G	ENST00000355485.2	+	8	1719	c.1448T>G	c.(1447-1449)cTt>cGt	p.L483R	VANGL1_ENST00000369510.4_Missense_Mutation_p.L481R|VANGL1_ENST00000369509.1_Missense_Mutation_p.L483R|VANGL1_ENST00000310260.3_Missense_Mutation_p.L483R	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	483					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTGTTCGTCCTTAAGTGCTTG	0.448																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(1447-1449)cTt>cGt		VANGL planar cell polarity protein 1							136.0	107.0	117.0					1																	116233873		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116233873T>G	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1448T>G	1.37:g.116233873T>G	ENSP00000347672:p.Leu483Arg					VANGL1_ENST00000369510.3_Missense_Mutation_p.L481R|VANGL1_ENST00000369509.1_Missense_Mutation_p.L483R|VANGL1_ENST00000310260.3_Missense_Mutation_p.L483R	p.L483R	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1719	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	483					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1448T>G	CCDS883.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408425	0.83340	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.26	5.26	0.73747	.	0.063724	0.64402	D	0.000004	D	0.93789	0.8014	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95015	0.8155	10	0.87932	D	0	-9.9844	15.3505	0.74380	0.0:0.0:0.0:1.0	.	481;483	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	R	483;481;483;483	ENSP00000347672:L483R;ENSP00000358523:L481R;ENSP00000310800:L483R;ENSP00000358522:L483R	ENSP00000310800:L483R	L	+	2	0	VANGL1	116035396	1.000000	0.71417	0.866000	0.34008	0.819000	0.46315	7.868000	0.87116	2.208000	0.71279	0.533000	0.62120	CTT		0.448	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			8	53	0	0	0	1	0	8	53				
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338																																						ENST00000600068.1																			0																																																			0							g.chr19:53472914A>G																													19.37:g.53472914A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.338	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			3	11	0	0	0	1	0	3	11				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			0							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			6	161	0	0	0	1	0	6	161				
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					ENST00000535591.1																			1	Substitution - Missense(1)	p.C351S(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1051-1053)tGc>tCc		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1247	-			351						Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	152	0	0	0	1	0	5	152				
SCN1A	6323	broad.mit.edu	37	2	166900322	166900322	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr2:166900322C>G	ENST00000303395.4	-	11	1899	c.1900G>C	c.(1900-1902)Gtg>Ctg	p.V634L	SCN1A_ENST00000409050.1_Missense_Mutation_p.V634L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V634L|SCN1A_ENST00000423058.2_Missense_Mutation_p.V634L|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	634					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGGAAACACTGCCAGCATC	0.537																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1900-1902)Gtg>Ctg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						170.0	137.0	149.0					2																	166900322		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900322C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1900G>C	2.37:g.166900322C>G	ENSP00000303540:p.Val634Leu					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V634L|SCN1A_ENST00000375405.3_Missense_Mutation_p.V634L|SCN1A_ENST00000303395.4_Missense_Mutation_p.V634L|AC010127.3_ENST00000595268.1_RNA	p.V634L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1917	-			634					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1900G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950122	0.34377	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;D	0.90504	-0.54;-0.54;-0.54;-2.68	5.05	3.15	0.36227	Domain of unknown function DUF3451 (1);	0.523000	0.17608	N	0.168184	D	0.84656	0.5520	L	0.31420	0.93	0.30886	N	0.730922	B;B;B	0.21071	0.0;0.0;0.051	B;B;B	0.24155	0.0;0.001;0.051	T	0.77086	-0.2718	10	0.27785	T	0.31	.	13.3369	0.60522	0.0:0.9047:0.0:0.0953	.	634;634;634	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	634	ENSP00000407030:V634L;ENSP00000303540:V634L;ENSP00000364554:V634L;ENSP00000386312:V634L	ENSP00000303540:V634L	V	-	1	0	SCN1A	166608568	0.181000	0.23161	0.796000	0.32109	0.958000	0.62258	1.320000	0.33666	0.593000	0.29745	0.561000	0.74099	GTG		0.537	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	68	0	0	0	1	0	6	68				
APC	324	broad.mit.edu	37	5	112175616	112175616	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr5:112175616C>A	ENST00000457016.1	+	16	4705	c.4325C>A	c.(4324-4326)cCt>cAt	p.P1442H	APC_ENST00000508376.2_Missense_Mutation_p.P1442H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1442H			P25054	APC_HUMAN	adenomatous polyposis coli	1442	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)|p.P1442fs*31(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1441fs*28(1)|p.S1436fs*22(1)|p.P1441fs*27(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTCCACCACCTCCTCAAACA	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		7	Deletion - Frameshift(6)|Unknown(1)	p.?(1)|p.P1442fs*31(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1441fs*28(1)|p.S1436fs*22(1)|p.P1441fs*27(1)	large_intestine(5)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4324-4326)cCt>cAt		adenomatous polyposis coli							114.0	99.0	104.0					5																	112175616		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175616C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4325C>A	5.37:g.112175616C>A	ENSP00000413133:p.Pro1442His	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.P1442H|APC_ENST00000508376.2_Missense_Mutation_p.P1442H|CTC-554D6.1_ENST00000520401.1_Intron	p.P1442H			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4705	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1442			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4325C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124120	0.77436	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90444	-2.67;-2.67;-2.67	5.95	5.95	0.96441	.	0.153913	0.64402	D	0.000013	D	0.94142	0.8121	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92581	0.6074	9	.	.	.	-11.4277	20.3697	0.98890	0.0:1.0:0.0:0.0	.	1444;1442	Q4LE70;P25054	.;APC_HUMAN	H	1442	ENSP00000413133:P1442H;ENSP00000257430:P1442H;ENSP00000427089:P1442H	.	P	+	2	0	APC	112203515	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.802000	0.55553	2.811000	0.96726	0.655000	0.94253	CCT		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		3	40	1	0	1	1	1	3	40				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	106	0	0	0	1	0	6	106				
ABCA4	24	broad.mit.edu	37	1	94512531	94512531	+	Silent	SNP	G	G	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2860-2862)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 4							147.0	149.0	148.0					1																	94512531		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512531G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2862C>T	1.37:g.94512531G>A						ABCA4_ENST00000535735.1_Silent_p.Y880Y	p.Y954Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2948	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	954			ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2862C>T	CCDS747.1																																																																																				0.552	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		15	153	0	0	0	1	0	15	153				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	56	0	0	0	1	0	4	56				
TLN2	83660	broad.mit.edu	37	15	63102170	63102170	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:63102170C>A	ENST00000561311.1	+	51	6940	c.6710C>A	c.(6709-6711)gCc>gAc	p.A2237D	TLN2_ENST00000306829.6_Missense_Mutation_p.A2237D			Q9Y4G6	TLN2_HUMAN	talin 2	2237					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAACCAGAGCCTTGCGTTTC	0.552																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(6709-6711)gCc>gAc		talin 2							140.0	104.0	116.0					15																	63102170		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63102170C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6710C>A	15.37:g.63102170C>A	ENSP00000453508:p.Ala2237Asp					TLN2_ENST00000306829.6_Missense_Mutation_p.A2237D	p.A2237D			Q9Y4G6	TLN2_HUMAN			51	6940	+			2237					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6710C>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045839	0.93685	.	.	ENSG00000171914	ENST00000306829	T	0.70986	-0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	P	0.61328	0.887	T	0.81093	-0.1089	10	0.33940	T	0.23	-19.1241	19.8344	0.96650	0.0:1.0:0.0:0.0	.	2237	Q9Y4G6	TLN2_HUMAN	D	2237	ENSP00000303476:A2237D	ENSP00000303476:A2237D	A	+	2	0	TLN2	60889223	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	7.776000	0.85560	2.696000	0.92011	0.561000	0.74099	GCC		0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	19	1	0	0.0215528	1	0.0242469	3	19				
CRISPLD2	83716	broad.mit.edu	37	16	84882990	84882990	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:84882990G>A	ENST00000262424.5	+	4	583		c.e4-1		CRISPLD2_ENST00000566431.1_Splice_Site|CRISPLD2_ENST00000567845.1_Splice_Site|CRISPLD2_ENST00000564567.1_Splice_Site	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2						extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTGCCCTGCAGGTATCGCTCT	0.642																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.e4-1		cysteine-rich secretory protein LCCL domain containing 2							115.0	102.0	106.0					16																	84882990		2199	4300	6499	SO:0001630	splice_region_variant	83716					extracellular region|transport vesicle		g.chr16:84882990G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.360-1G>A	16.37:g.84882990G>A						CRISPLD2_ENST00000567845.1_Splice_Site|CRISPLD2_ENST00000566431.1_Splice_Site|CRISPLD2_ENST00000564567.1_Splice_Site		NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			4	583	+								D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Splice_Site	SNP	ENST00000262424.5	37		CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.982462	0.34942	.	.	ENSG00000103196	ENST00000262424	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4241	0.90604	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRISPLD2	83440491	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	9.333000	0.96459	2.699000	0.92147	0.643000	0.83706	.		0.642	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476	Intron	15	22	0	0	0	1	0	15	22				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	142	0	0	0	1	0	4	142				
ZNF37A	7587	broad.mit.edu	37	10	38407191	38407191	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr10:38407191C>G	ENST00000361085.5	+	7	1457	c.1112C>G	c.(1111-1113)aCt>aGt	p.T371S	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T371S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCAGTCCTTACTGTGCATCAG	0.408																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1111-1113)aCt>aGt		zinc finger protein 37A							77.0	80.0	79.0					10																	38407191		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407191C>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1112C>G	10.37:g.38407191C>G	ENSP00000354377:p.Thr371Ser					ZNF37A_ENST00000361085.4_Missense_Mutation_p.T371S	p.T371S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1942	+			371					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1112C>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805534	0.31961	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07216	3.21;3.21	1.78	-0.41	0.12374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.20986	0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38499	-0.9658	9	0.38643	T	0.18	.	8.7167	0.34416	0.0:0.5528:0.4471:0.0	.	371	P17032	ZN37A_HUMAN	S	371	ENSP00000329141:T371S;ENSP00000354377:T371S	ENSP00000329141:T371S	T	+	2	0	ZNF37A	38447197	0.000000	0.05858	0.992000	0.48379	0.955000	0.61496	0.002000	0.13061	-0.101000	0.12219	0.591000	0.81541	ACT		0.408	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		4	73	0	0	0	1	0	4	73				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			0							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	67	0	0	0	1	0	4	67				
ZNF629	23361	broad.mit.edu	37	16	30794482	30794482	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:30794482C>A	ENST00000262525.4	-	3	1374	c.1167G>T	c.(1165-1167)ttG>ttT	p.L389F		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGCCGCAGCAACGTGGCGC	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1165-1167)ttG>ttT		zinc finger protein 629							37.0	39.0	38.0					16																	30794482		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794482C>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1167G>T	16.37:g.30794482C>A	ENSP00000262525:p.Leu389Phe						p.L389F	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1374	-			389					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1167G>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733981	0.48939	.	.	ENSG00000102870	ENST00000262525	T	0.52057	0.68	5.79	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35646	N	0.003071	T	0.62575	0.2439	L	0.50333	1.59	0.36275	D	0.855422	D	0.89917	1.0	D	0.91635	0.999	T	0.67569	-0.5637	10	0.49607	T	0.09	-18.0793	15.2644	0.73649	0.0:0.8591:0.1409:0.0	.	389	Q9UEG4	ZN629_HUMAN	F	389	ENSP00000262525:L389F	ENSP00000262525:L389F	L	-	3	2	ZNF629	30701983	0.001000	0.12720	1.000000	0.80357	0.564000	0.35744	-0.084000	0.11268	2.735000	0.93741	0.561000	0.74099	TTG		0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	25	1	0	0.115264	1	0.125743	3	25				
TLE4	7091	broad.mit.edu	37	9	82321667	82321667	+	Silent	SNP	A	A	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:82321667A>G	ENST00000376552.2	+	11	1807	c.789A>G	c.(787-789)ccA>ccG	p.P263P	TLE4_ENST00000376520.4_Silent_p.P263P|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Silent_p.P238P|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.P263P	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	263	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGTAGGATCCATCTTCCCCTC	0.493																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(787-789)ccA>ccG		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							119.0	117.0	118.0					9																	82321667		1938	4123	6061	SO:0001819	synonymous_variant	7091							g.chr9:82321667A>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.789A>G	9.37:g.82321667A>G						TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.P263P|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Silent_p.P263P|TLE4_ENST00000265284.6_Silent_p.P238P	p.P263P			O60756	BCE1_HUMAN			11	1617	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.789A>G	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	A	9.481	1.098222	0.20552	.	.	ENSG00000106829	ENST00000496114	.	.	.	6.05	-12.1	0.00011	.	.	.	.	.	T	0.28797	0.0714	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40997	-0.9533	4	.	.	.	-11.918	0.6162	0.00770	0.2206:0.2842:0.1831:0.3121	.	.	.	.	V	54	.	.	I	+	1	0	TLE4	81511487	0.000000	0.05858	0.626000	0.29213	0.949000	0.60115	-2.259000	0.01178	-1.766000	0.01302	-1.014000	0.02459	ATC		0.493	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		28	53	0	0	0	1	0	28	53				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		3	37	0	0	0	1	0	3	37				
ALG1L2	644974	broad.mit.edu	37	3	129817144	129817144	+	RNA	SNP	G	G	T			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr3:129817144G>T	ENST00000507643.1	+	0	726				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TGCGGGAGTCGCAGCAGCTCT	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817144G>T	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817144G>T										C9J202	AG1L2_HUMAN			0	726	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	31	1	0	0.00198382	1	0.00230379	4	31				
EP400	57634	broad.mit.edu	37	12	132472421	132472421	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr12:132472421G>T	ENST00000333577.4	+	8	2612	c.2503G>T	c.(2503-2505)Gct>Tct	p.A835S	EP400_ENST00000389562.2_Missense_Mutation_p.A798S|EP400_ENST00000330386.6_Missense_Mutation_p.A799S|EP400_ENST00000389561.2_Missense_Mutation_p.A799S|EP400_ENST00000332482.4_Missense_Mutation_p.A762S			Q96L91	EP400_HUMAN	E1A binding protein p400	835	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTGGAAGGTGGCTGCTGCGAA	0.612																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2503-2505)Gct>Tct		E1A binding protein p400							79.0	57.0	64.0					12																	132472421		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132472421G>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2503G>T	12.37:g.132472421G>T	ENSP00000333602:p.Ala835Ser					EP400_ENST00000389561.2_Missense_Mutation_p.A799S|EP400_ENST00000330386.6_Missense_Mutation_p.A799S|EP400_ENST00000389562.2_Missense_Mutation_p.A798S|EP400_ENST00000332482.4_Missense_Mutation_p.A762S	p.A835S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	8	2612	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	835			HSA.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2503G>T		.	.	.	.	.	.	.	.	.	.	G	15.78	2.933489	0.52866	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91521	-2.82;-2.81;-2.82;-2.86;-2.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	M	0.64997	1.995	0.53688	D	0.999973	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.997;0.997;0.998;0.997	D	0.93466	0.6815	10	0.39692	T	0.17	.	19.3223	0.94246	0.0:0.0:1.0:0.0	.	799;799;798;835;762	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	S	762;835;799;798;762;799;835;799;799	ENSP00000333602:A835S;ENSP00000374212:A799S;ENSP00000374213:A798S;ENSP00000331737:A762S;ENSP00000330620:A799S	ENSP00000330620:A799S	A	+	1	0	EP400	131038374	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.721000	0.98766	2.637000	0.89404	0.563000	0.77884	GCT		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	20	1	0	1	1	1	3	20				
ZNF234	10780	broad.mit.edu	37	19	44660699	44660699	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr19:44660699C>A	ENST00000426739.2	+	6	788	c.530C>A	c.(529-531)aCa>aAa	p.T177K	ZNF234_ENST00000592437.1_Missense_Mutation_p.T177K	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGTCTCATACATGTGATGAG	0.393																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(529-531)aCa>aAa		zinc finger protein 234							131.0	134.0	133.0					19																	44660699		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660699C>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.530C>A	19.37:g.44660699C>A	ENSP00000400878:p.Thr177Lys					ZNF234_ENST00000592437.1_Missense_Mutation_p.T177K	p.T177K	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	788	+		Prostate(69;0.0435)	177					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.530C>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532302	0.27387	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.16597	2.33	4.19	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.01668	-0.77	0.09310	N	1	D	0.65815	0.995	D	0.65987	0.94	T	0.23691	-1.0181	9	0.02654	T	1	.	0.5231	0.00615	0.3544:0.2614:0.1214:0.2629	.	177	Q14588	ZN234_HUMAN	K	177;8	ENSP00000400878:T177K	ENSP00000400878:T177K	T	+	2	0	ZNF226	49352539	0.000000	0.05858	0.000000	0.03702	0.962000	0.63368	-2.770000	0.00780	-0.104000	0.12154	0.586000	0.80456	ACA		0.393	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			16	102	1	0	5.01169e-05	1	6.22141e-05	16	102				
BAGE2	85319	broad.mit.edu	37	21	11058348	11058348	+	RNA	SNP	C	C	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr21:11058348C>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							34.0	29.0	30.0					21																	11058348		692	1591	2283			85319							g.chr21:11058348C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058348C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	90	1	0	8.12818e-05	1	9.75382e-05	6	90				
NAA30	122830	broad.mit.edu	37	14	57863556	57863556	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr14:57863556G>T	ENST00000556492.1	+	3	1012	c.858G>T	c.(856-858)atG>atT	p.M286I	NAA30_ENST00000555166.1_Missense_Mutation_p.M28I|NAA30_ENST00000554703.1_Missense_Mutation_p.M28I	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	286	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						ATATAGCCATGTTAGCCGTGG	0.373																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(856-858)atG>atT		N(alpha)-acetyltransferase 30, NatC catalytic subunit							175.0	159.0	164.0					14																	57863556		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57863556G>T	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.858G>T	14.37:g.57863556G>T	ENSP00000452521:p.Met286Ile					NAA30_ENST00000555166.1_Missense_Mutation_p.M28I|NAA30_ENST00000554703.1_Missense_Mutation_p.M28I	p.M286I	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			3	1012	+			286			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.858G>T	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.297549|5.297549	0.95574|0.95574	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000298406|ENST00000555166;ENST00000556492;ENST00000554703;ENST00000395257	.|T;T;T	.|0.22134	.|1.97;1.97;1.97	5.95|5.95	5.95|5.95	0.96441|0.96441	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	T|T	0.12167|0.12167	-1.0558|-1.0558	5|10	.|0.87932	.|D	.|0	-8.5766|-8.5766	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q147X3	.|NAA30_HUMAN	F|I	98|28;286;28;249	.|ENSP00000450939:M28I;ENSP00000452521:M286I;ENSP00000451255:M28I	.|ENSP00000298406:M286I	C|M	+|+	2|3	0|0	NAA30|NAA30	56933309|56933309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.600000|9.600000	0.98282|0.98282	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.373	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		9	36	1	0	3.09899e-07	1	3.98441e-07	9	36				
ALG1L2	644974	broad.mit.edu	37	3	129817138	129817138	+	RNA	SNP	G	G	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr3:129817138G>A	ENST00000507643.1	+	0	720				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										AGAACCTGCGGGAGTCGCAGC	0.522																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817138G>A	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817138G>A										C9J202	AG1L2_HUMAN			0	720	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.522	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	32	0	0	0	1	0	4	32				
ABLIM2	84448	broad.mit.edu	37	4	7985069	7985069	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr4:7985069G>C	ENST00000341937.5	-	19	1708	c.1644C>G	c.(1642-1644)atC>atG	p.I548M	ABLIM2_ENST00000361581.5_Missense_Mutation_p.I509M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I510M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.I468M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I283M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.I458M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I582M|ABLIM2_ENST00000546334.1_Missense_Mutation_p.I468M|ABLIM2_ENST00000318888.4_Missense_Mutation_p.I283M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I508M|ABLIM2_ENST00000505872.1_Missense_Mutation_p.I496M	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	548	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CATACGGATAGATCTGTTGGG	0.552																																						ENST00000318888.4																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.(847-849)atC>atG		actin binding LIM protein family, member 2							64.0	65.0	65.0					4																	7985069		2056	4196	6252	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:7985069G>C	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1644C>G	4.37:g.7985069G>C	ENSP00000342813:p.Ile548Met					ABLIM2_ENST00000546334.1_Missense_Mutation_p.I468M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I582M|ABLIM2_ENST00000505872.1_Missense_Mutation_p.I496M|ABLIM2_ENST00000407564.3_Missense_Mutation_p.I458M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I510M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I548M|ABLIM2_ENST00000361737.5_Missense_Mutation_p.I468M|ABLIM2_ENST00000361581.5_Missense_Mutation_p.I509M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I283M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I508M	p.I283M			Q6H8Q1	ABLM2_HUMAN			19	1720	-			548					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.849C>G	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501038	0.44455	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872	T;T;T;T;T;T;T;T;T;T;T	0.52983	1.45;1.71;1.59;1.42;0.64;0.64;1.5;1.6;1.65;1.39;1.27	4.53	2.77	0.32553	Villin headpiece (3);	0.395740	0.27253	N	0.020217	T	0.65709	0.2717	M	0.87381	2.88	0.35637	D	0.810657	P;D;D;P;D;P;D;D	0.69078	0.952;0.993;0.958;0.954;0.997;0.897;0.985;0.996	P;D;P;P;D;P;D;D	0.69307	0.621;0.915;0.682;0.786;0.963;0.8;0.915;0.937	T	0.70912	-0.4743	10	0.72032	D	0.01	.	5.3246	0.15898	0.1792:0.0:0.6548:0.166	.	458;509;468;548;496;283;510;582	Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;.;.;ABLM2_HUMAN;.;.;.;.	M	468;581;510;508;468;283;283;582;548;509;458;496	ENSP00000354887:I468M;ENSP00000296372:I510M;ENSP00000441255:I508M;ENSP00000444365:I468M;ENSP00000317020:I283M;ENSP00000423661:I283M;ENSP00000393511:I582M;ENSP00000342813:I548M;ENSP00000355003:I509M;ENSP00000384658:I458M;ENSP00000421283:I496M	ENSP00000296372:I510M	I	-	3	3	ABLIM2	8035969	1.000000	0.71417	0.931000	0.37212	0.579000	0.36224	0.705000	0.25675	0.519000	0.28406	0.591000	0.81541	ATC		0.552	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		9	8	0	0	0	1	0	9	8				
TRIM48	79097	broad.mit.edu	37	11	55032442	55032442	+	Silent	SNP	C	C	T	rs200709338		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr11:55032442C>T	ENST00000417545.2	+	2	197	c.111C>T	c.(109-111)taC>taT	p.Y37Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	21						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCATGAACTACTTCATAGACC	0.478																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(109-111)taC>taT		tripartite motif containing 48							118.0	121.0	120.0					11																	55032442		2193	4264	6457	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55032442C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.111C>T	11.37:g.55032442C>T							p.Y37Y	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			2	197	+			21					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.111C>T	CCDS7947.2																																																																																				0.478	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	174	0	0	0	1	0	9	174				
ALG1L2	644974	broad.mit.edu	37	3	129817127	129817127	+	RNA	SNP	A	A	C			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr3:129817127A>C	ENST00000507643.1	+	0	709				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CCAGTTCCGGAAGAACCTGCG	0.522																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817127A>C	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817127A>C										C9J202	AG1L2_HUMAN			0	709	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.522	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		4	31	0	0	0	1	0	4	31				
MAGEC1	9947	broad.mit.edu	37	X	140994614	140994614	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chrX:140994614A>T	ENST00000285879.4	+	4	1710	c.1424A>T	c.(1423-1425)cAg>cTg	p.Q475L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	475										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTTCCCCAGTCTCCTCTC	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1423-1425)cAg>cTg		melanoma antigen family C, 1							114.0	125.0	121.0					X																	140994614		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994614A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1424A>T	X.37:g.140994614A>T	ENSP00000285879:p.Gln475Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q475L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1710	+	Acute lymphoblastic leukemia(192;6.56e-05)		475					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1424A>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	2.681	-0.275423	0.05679	.	.	ENSG00000155495	ENST00000285879	T	0.02631	4.22	.	.	.	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.80722	D	1	P	0.38110	0.618	B	0.26969	0.075	T	0.62946	-0.6746	8	0.87932	D	0	.	2.6458	0.04984	0.5165:0.0:0.4835:0.0	.	475	O60732	MAGC1_HUMAN	L	475	ENSP00000285879:Q475L	ENSP00000285879:Q475L	Q	+	2	0	MAGEC1	140822280	0.000000	0.05858	0.106000	0.21319	0.107000	0.19398	-2.033000	0.01425	0.126000	0.18424	0.125000	0.15800	CAG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		82	167	0	0	0	1	0	82	167				
CILP	8483	broad.mit.edu	37	15	65499273	65499273	+	Missense_Mutation	SNP	G	G	A	rs148640463		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:65499273G>A	ENST00000261883.4	-	4	437	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	91					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTCTAGCCGCAGGGGACGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17608	0.0		0.0	False		,,,				2504	0.001					ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(271-273)Cgg>Tgg		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase		G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	39.0	34.0	36.0		271	-6.8	0.0	15	dbSNP_134	36	0,8598		0,0,4299	no	missense	CILP	NM_003613.3	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1185	65499273	1,12999	2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499273G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.271C>T	15.37:g.65499273G>A	ENSP00000261883:p.Arg91Trp						p.R91W	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			4	437	-			91					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.271C>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429139	0.25726	2.27E-4	0.0	ENSG00000138615	ENST00000261883	T	0.18174	2.23	5.58	-6.77	0.01727	.	0.676350	0.15665	N	0.250715	T	0.12008	0.0292	L	0.55481	1.735	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11641	-1.0579	10	0.59425	D	0.04	-21.2792	5.9877	0.19444	0.3501:0.0:0.3961:0.2539	.	91	O75339	CILP1_HUMAN	W	91	ENSP00000261883:R91W	ENSP00000261883:R91W	R	-	1	2	CILP	63286326	0.000000	0.05858	0.037000	0.18230	0.660000	0.38997	-0.438000	0.06905	-1.864000	0.01148	-1.267000	0.01435	CGG		0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		3	22	0	0	0	1	0	3	22				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	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		11	28	0	0	0	1	0	11	28				
PRUNE2	158471	broad.mit.edu	37	9	79325961	79325961	+	Missense_Mutation	SNP	T	T	C	rs192120864		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:79325961T>C	ENST00000376718.3	-	8	1352	c.1229A>G	c.(1228-1230)aAt>aGt	p.N410S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N51S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	410					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTAGAATCATTGAGATCTGG	0.512													T|||	1	0.000199681	0.0	0.0	5008	,	,		21716	0.001		0.0	False		,,,				2504	0.0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(151-153)aAt>aGt		prune homolog 2 (Drosophila)							47.0	44.0	45.0					9																	79325961		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325961T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1229A>G	9.37:g.79325961T>C	ENSP00000365908:p.Asn410Ser					PRUNE2_ENST00000376718.3_Missense_Mutation_p.N410S	p.N51S			Q8WUY3	PRUN2_HUMAN			8	1352	-			410					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.152A>G	CCDS47982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	1.046	-0.677434	0.03378	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.58060	0.56;0.36	5.64	-3.08	0.05347	.	0.615186	0.15216	N	0.274220	T	0.29652	0.0740	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.01814	-1.1268	10	0.33940	T	0.23	-4.0174	6.4314	0.21798	0.1069:0.3246:0.0:0.5685	.	410	Q8WUY3	PRUN2_HUMAN	S	410;51;409	ENSP00000365908:N410S;ENSP00000397425:N51S	ENSP00000365908:N410S	N	-	2	0	PRUNE2	78515781	0.295000	0.24389	0.027000	0.17364	0.132000	0.20833	-0.549000	0.06041	-0.845000	0.04179	-2.279000	0.00272	AAT		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	26	0	0	0	1	0	3	26				
TRIM33	51592	broad.mit.edu	37	1	114952912	114952912	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr1:114952912T>G	ENST00000358465.2	-	12	2171	c.2088A>C	c.(2086-2088)ttA>ttC	p.L696F	TRIM33_ENST00000369543.2_Missense_Mutation_p.L696F|TRIM33_ENST00000450349.2_Missense_Mutation_p.L328F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	696			L -> S (in dbSNP:rs56151583). {ECO:0000269|PubMed:17344846}.		gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGATTATCTAAACTACTTG	0.413			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(2086-2088)ttA>ttC		tripartite motif containing 33							93.0	96.0	95.0					1																	114952912		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114952912T>G	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2088A>C	1.37:g.114952912T>G	ENSP00000351250:p.Leu696Phe					TRIM33_ENST00000450349.2_Missense_Mutation_p.L328F|TRIM33_ENST00000369543.2_Missense_Mutation_p.L696F	p.L696F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2171	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	696		L -> S (in dbSNP:rs56151583).			O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.2088A>C	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.30|14.30	2.494258|2.494258	0.44352|0.44352	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.60171|.	0.21;0.21;0.21|.	4.82|4.82	4.82|4.82	0.62117|0.62117	.|.	0.072526|.	0.56097|.	D|.	0.000035|.	T|.	0.48352|.	0.1495|.	L|L	0.50333|0.50333	1.59|1.59	0.48511|0.48511	D|D	0.999662|0.999662	D;D;B;B|.	0.76494|.	0.998;0.999;0.046;0.027|.	D;D;B;B|.	0.73708|.	0.949;0.981;0.023;0.018|.	T|.	0.49670|.	-0.8915|.	10|.	0.48119|.	T|.	0.1|.	-7.0983|-7.0983	10.8199|10.8199	0.46599|0.46599	0.0:0.0773:0.0:0.9227|0.0:0.0773:0.0:0.9227	.|.	328;328;696;696|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	F|S	696;696;328|457	ENSP00000351250:L696F;ENSP00000358556:L696F;ENSP00000412077:L328F|.	ENSP00000351250:L696F|.	L|X	-|-	3|2	2|0	TRIM33|TRIM33	114754435|114754435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.577000|1.577000	0.36515|0.36515	1.927000|1.927000	0.55829|0.55829	0.377000|0.377000	0.23210|0.23210	TTA|TAG		0.413	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		11	27	0	0	0	1	0	11	27				
MORN5	254956	broad.mit.edu	37	9	124936866	124936866	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr9:124936866G>T	ENST00000373764.3	+	4	461	c.399G>T	c.(397-399)agG>agT	p.R133S	MORN5_ENST00000536616.1_Missense_Mutation_p.R133S|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	133										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CAGTCACGAGGGTAGTCAAGG	0.468																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(397-399)agG>agT		MORN repeat containing 5							111.0	102.0	105.0					9																	124936866		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124936866G>T	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.399G>T	9.37:g.124936866G>T	ENSP00000362869:p.Arg133Ser					MORN5_ENST00000373764.3_Missense_Mutation_p.R133S|MORN5_ENST00000486801.1_3'UTR	p.R133S			Q5VZ52	MORN5_HUMAN			4	437	+			133					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.399G>T	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339058	0.11069	.	.	ENSG00000185681	ENST00000373764;ENST00000536616	T;T	0.23950	1.96;1.88	5.65	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	M	0.74881	2.28	0.28947	N	0.890618	B;B	0.33103	0.397;0.102	B;B	0.32533	0.147;0.03	T	0.12889	-1.0530	10	0.41790	T	0.15	-1.1699	8.5595	0.33503	0.3095:0.0:0.6905:0.0	.	133;133	B7Z7I5;Q5VZ52	.;MORN5_HUMAN	S	133	ENSP00000362869:R133S;ENSP00000437483:R133S	ENSP00000362869:R133S	R	+	3	2	MORN5	123976687	0.535000	0.26370	0.017000	0.16124	0.052000	0.14988	0.582000	0.23834	0.342000	0.23796	0.650000	0.86243	AGG		0.468	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		6	68	1	0	2.7689e-08	1	3.69186e-08	6	68				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	78	0	0	0	1	0	4	78				
ZNF639	51193	broad.mit.edu	37	3	179051912	179051913	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr3:179051912_179051913insA	ENST00000326361.3	+	7	1605_1606	c.1160_1161insA	c.(1159-1164)acaaatfs	p.N388fs	ZNF639_ENST00000496856.1_Frame_Shift_Ins_p.N388fs|ZNF639_ENST00000484866.1_Frame_Shift_Ins_p.N388fs	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	388	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGACTTCACACAAATGTTAACA	0.356																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1159-1161)aaafs		zinc finger protein 639																																				SO:0001589	frameshift_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051912_179051913insA	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1163dupA	3.37:g.179051915_179051915dupA	ENSP00000325634:p.Asn388fs					ZNF639_ENST00000484866.1_Frame_Shift_Ins_p.K387fs|ZNF639_ENST00000496856.1_Frame_Shift_Ins_p.K387fs	p.K387fs	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1605_1606	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		387			Interaction with CTNNA2.		A9X3Z9|D3DNR3	Frame_Shift_Ins	INS	ENST00000326361.3	37	c.1160_1161insA	CCDS3227.1																																																																																				0.356	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		29	107						29	107	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr7:65150817delC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCATCCCTCACCCCCCCCCCC	0.468																																						ENST00000430126.2																			0																																																			0							g.chr7:65150817delC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150817delC														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.468	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	7						4	7	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			2	4						2	4	---	---	---	---
OTUD6B	51633	broad.mit.edu	37	8	92096277	92096277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr8:92096277delA	ENST00000285420.4	+	6	921	c.822delA	c.(820-822)atafs	p.I275fs	OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.I144fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	245	His-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CAATAGAGATAATACAGGCAG	0.294																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(820-822)atfs		OTU domain containing 6B							58.0	52.0	54.0					8																	92096277		2202	4300	6502	SO:0001589	frameshift_variant	51633							g.chr8:92096277delA		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.822delA	8.37:g.92096277delA	ENSP00000285420:p.Ile275fs					OTUD6B_ENST00000404789.3_Frame_Shift_Del_p.I144fs	p.I275fs	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		6	921	+			245			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Frame_Shift_Del	DEL	ENST00000285420.4	37	c.822delA	CCDS6253.2																																																																																				0.294	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		2	4						2	4	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195357	18195357	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr11:18195357delT	ENST00000314254.3	+	1	974	c.554delT	c.(553-555)attfs	p.I185fs	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGTGGCTGATTTTTTTATGT	0.507																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(553-555)atfs		MAS-related GPR, member X4							180.0	173.0	176.0					11																	18195357		2199	4293	6492	SO:0001589	frameshift_variant	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195357delT	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.554delT	11.37:g.18195357delT	ENSP00000314042:p.Ile185fs					RP11-113D6.6_ENST00000527671.1_Intron	p.I185fs	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	974	+			185					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Frame_Shift_Del	DEL	ENST00000314254.3	37	c.554delT	CCDS7831.1																																																																																				0.507	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		17	131						17	131	---	---	---	---
AVIL	10677	broad.mit.edu	37	12	58209957	58209958	+	De_novo_Start_OutOfFrame	INS	-	-	TGG			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr12:58209957_58209958insTGG	ENST00000257861.3	-	0	296_297				AVIL_ENST00000537081.1_5'Flank|RP11-571M6.18_ENST00000602327.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CCACACCCTCATGGTGCATCCC	0.54																																						ENST00000257861.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32								advillin																																						10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58209957_58209958insTGG	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.-135->CCA	12.37:g.58209958_58209960dupTGG								NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN			0	296_297	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)							B2RAU7|Q2NKM9	Translation_Start_Site	INS	ENST00000257861.3	37		CCDS8959.1																																																																																				0.540	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		4	2						4	2	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1528-1530)del		golgin A6 family, member B				15,2317		3,9,1154						-0.8	0.0			8	86,2952		19,48,1452	no	coding	GOLGA6B	NM_018652.4		22,57,2606	A1A1,A1R,RR		2.8308,0.6432,1.8808				101,5269				SO:0001651	inframe_deletion	55889							g.chr15:72957311_72957313delGAG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1528_1530delGAG	15.37:g.72957320_72957322delGAG	ENSP00000408132:p.Glu513del						p.E513del	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			14	1528_1530	+			513					A8MYY7	In_Frame_Del	DEL	ENST00000421285.3	37	c.1528_1530delGAG	CCDS10245.2																																																																																				0.635	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		5	6						5	6	---	---	---	---
ABCA17P	650655	broad.mit.edu	37	16	2474780	2474780	+	RNA	DEL	C	C	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:2474780delC	ENST00000469908.1	+	0	2937					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		TGTGTGCCGGCCCCGGCAGCC	0.672																																						ENST00000469908.1																			0																																																			0							g.chr16:2474780delC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2474780delC								NR_003574.1						0	2937	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.672	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			7	19						7	19	---	---	---	---
CCDC9	26093	broad.mit.edu	37	19	47768151	47768151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3SZ-01A-11D-A22Z-08	TCGA-EM-A3SZ-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	114ee66b-9e70-492c-8644-43956553c557	cfb11db4-04a4-44ea-bf61-1518475fd677	g.chr19:47768151delG	ENST00000221922.6	+	7	890	c.668delG	c.(667-669)tggfs	p.W223fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	223							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGCAACTGGGGGGGCCCC	0.721																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(667-669)tgfs		coiled-coil domain containing 9							4.0	7.0	6.0					19																	47768151		2057	4027	6084	SO:0001589	frameshift_variant	26093							g.chr19:47768151delG	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.668delG	19.37:g.47768151delG	ENSP00000221922:p.Trp223fs						p.W223fs	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	7	890	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	223						Frame_Shift_Del	DEL	ENST00000221922.6	37	c.668delG	CCDS12698.1																																																																																				0.721	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		3	4						3	4	---	---	---	---
