#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
SP3	6670	broad.mit.edu	37	2	174820690	174820690	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:174820690C>A	ENST00000310015.6	-	4	1080	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	184	Transactivation domain (Gln-rich).				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCAATTTGAACCTGCTGACCA	0.413																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(550-552)Gtt>Ttt		Sp3 transcription factor							240.0	243.0	242.0					2																	174820690		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820690C>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.550G>T	2.37:g.174820690C>A	ENSP00000310301:p.Val184Phe					SP3_ENST00000418194.2_Missense_Mutation_p.V116F|SP3_ENST00000455789.2_Missense_Mutation_p.V131F	p.V184F	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1080	-			184			Transactivation domain (Gln-rich).		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.550G>T	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.903941|2.903941	0.52333|0.52333	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.05996	.|3.37;3.36;3.36	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.09949|0.09949	0.0244|0.0244	L|L	0.43152|0.43152	1.355|1.355	0.46798|0.46798	D|D	0.999207|0.999207	.|B;B;B	.|0.15719	.|0.014;0.014;0.012	.|B;B;B	.|0.10450	.|0.004;0.004;0.005	T|T	0.09207|0.09207	-1.0685|-1.0685	5|10	.|0.87932	.|D	.|0	.|.	20.3748|20.3748	0.98911|0.98911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|181;184;131	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	S|F	140|184;131;116	.|ENSP00000310301:V184F;ENSP00000388903:V131F;ENSP00000406140:V116F	.|ENSP00000310301:V184F	R|V	-|-	3|1	2|0	SP3|SP3	174528936|174528936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.955000|4.955000	0.63638|0.63638	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	AGG|GTT		0.413	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		29	159	1	0	8.16721e-17	1	9.2325e-17	29	159				
SYNC	81493	broad.mit.edu	37	1	33149934	33149934	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:33149934A>G	ENST00000409190.3	-	3	1741	c.1283T>C	c.(1282-1284)gTg>gCg	p.V428A	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.V428A	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	428	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGAGTTGCACCCCATTTCT	0.433																																						ENST00000373484.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1282-1284)gTg>gCg		syncoilin, intermediate filament protein							206.0	183.0	191.0					1																	33149934		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149934A>G	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1283T>C	1.37:g.33149934A>G	ENSP00000386439:p.Val428Ala					RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.V428A	p.V428A	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN			3	1382	-			428			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1283T>C	CCDS367.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400325	0.83120	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.88741	-2.42;-2.42	5.56	5.56	0.83823	Filament (1);	0.091894	0.46145	D	0.000311	D	0.89462	0.6722	N	0.14661	0.345	0.40745	D	0.98286	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	D	0.91867	0.5504	10	0.87932	D	0	-15.3955	15.2049	0.73173	1.0:0.0:0.0:0.0	.	428;428	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	A	428	ENSP00000362583:V428A;ENSP00000386439:V428A	ENSP00000362583:V428A	V	-	2	0	SYNC	32922521	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.189000	0.72051	2.257000	0.74773	0.459000	0.35465	GTG		0.433	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		6	81	0	0	0	1	0	6	81				
EMCN	51705	broad.mit.edu	37	4	101344519	101344519	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:101344519G>C	ENST00000296420.4	-	6	636	c.458C>G	c.(457-459)aCa>aGa	p.T153R	EMCN_ENST00000305864.3_Intron|EMCN_ENST00000511970.1_Missense_Mutation_p.T140R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	153						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGAGGTTAATGTACCAGTTTT	0.398																																						ENST00000296420.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13						c.(457-459)aCa>aGa		endomucin							220.0	204.0	210.0					4																	101344519		2203	4300	6503	SO:0001583	missense	51705					extracellular region|integral to membrane|plasma membrane		g.chr4:101344519G>C	AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.458C>G	4.37:g.101344519G>C	ENSP00000296420:p.Thr153Arg					EMCN_ENST00000511970.1_Missense_Mutation_p.T140R|EMCN_ENST00000305864.3_Intron	p.T153R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)	6	636	-			153					A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	ENST00000296420.4	37	c.458C>G	CCDS3655.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775903	0.16051	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	3.52	-4.74	0.03249	.	1.895830	0.03042	N	0.153498	T	0.19525	0.0469	N	0.19112	0.55	0.09310	N	1	P;P	0.46952	0.887;0.887	B;B	0.42738	0.396;0.396	T	0.20638	-1.0269	9	0.59425	D	0.04	4.2992	4.3433	0.11120	0.5182:0.0:0.205:0.2768	.	140;153	B4E347;Q9ULC0	.;MUCEN_HUMAN	R	153;140	.	ENSP00000296420:T153R	T	-	2	0	EMCN	101563542	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.381000	0.02549	-1.315000	0.02297	0.484000	0.47621	ACA		0.398	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2	NM_016242		5	41	0	0	0	1	0	5	41				
CECR2	27443	broad.mit.edu	37	22	18020457	18020457	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr22:18020457A>G	ENST00000400585.2	+	14	1801	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CECR2_ENST00000400573.5_Missense_Mutation_p.T596A|CECR2_ENST00000262608.8_Missense_Mutation_p.T597A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	638	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTGTGGTGGGACACCCAGCCA	0.537																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1789-1791)Aca>Gca		cat eye syndrome chromosome region, candidate 2							59.0	63.0	62.0					22																	18020457		1908	4129	6037	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020457A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1363A>G	22.37:g.18020457A>G	ENSP00000383428:p.Thr455Ala					CECR2_ENST00000400585.2_Missense_Mutation_p.T455A|CECR2_ENST00000400573.4_Missense_Mutation_p.T596A	p.T597A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1789	+		all_epithelial(15;0.139)	638					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1789A>G		.	.	.	.	.	.	.	.	.	.	A	8.526	0.869981	0.17322	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.24538	1.99;1.98;1.85	5.74	1.24	0.21308	.	0.887861	0.09642	N	0.774865	T	0.14056	0.0340	N	0.14661	0.345	0.20307	N	0.999912	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36841	-0.9731	10	0.19147	T	0.46	0.0801	8.8703	0.35311	0.6995:0.0:0.3005:0.0	.	638;455;596	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	A	455;596;597	ENSP00000383428:T455A;ENSP00000383417:T596A;ENSP00000262608:T597A	ENSP00000262608:T597A	T	+	1	0	CECR2	16400457	0.978000	0.34361	0.032000	0.17829	0.060000	0.15804	1.174000	0.31932	-0.078000	0.12730	0.402000	0.26972	ACA		0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		4	36	0	0	0	1	0	4	36				
ITGAX	3687	broad.mit.edu	37	16	31393167	31393167	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:31393167C>A	ENST00000268296.4	+	30	3552	c.3431C>A	c.(3430-3432)gCa>gAa	p.A1144E	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1144					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATGGAGGAGGCAAATGGACAA	0.527																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(3430-3432)gCa>gAa		integrin, alpha X (complement component 3 receptor 4 subunit)							154.0	159.0	157.0					16																	31393167		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31393167C>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3431C>A	16.37:g.31393167C>A	ENSP00000268296:p.Ala1144Glu					ITGAX_ENST00000562522.1_Missense_Mutation_p.A1144E	p.A1144E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			30	3552	+			1144					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.3431C>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653041	0.47362	.	.	ENSG00000140678	ENST00000268296	T	0.57907	0.37	5.02	0.269	0.15631	.	.	.	.	.	T	0.37652	0.1011	L	0.31804	0.96	0.09310	N	0.999991	P;B	0.45126	0.851;0.409	B;B	0.40165	0.321;0.168	T	0.18808	-1.0325	9	0.25106	T	0.35	.	11.4553	0.50179	0.6369:0.3631:0.0:0.0	.	1144;329	P20702;Q8TES5	ITAX_HUMAN;.	E	1144	ENSP00000268296:A1144E	ENSP00000268296:A1144E	A	+	2	0	ITGAX	31300668	0.002000	0.14202	0.650000	0.29550	0.341000	0.28922	0.047000	0.14056	0.313000	0.23062	0.591000	0.81541	GCA		0.527	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		4	56	1	0	0.150653	1	0.163208	4	56				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	58	0	0	0	1	0	5	58				
C4orf19	55286	broad.mit.edu	37	4	37591911	37591911	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:37591911G>C	ENST00000284437.6	+	3	412	c.234G>C	c.(232-234)tgG>tgC	p.W78C	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	78										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCCCTGCTGGCCTCACCAAG	0.627																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(232-234)tgG>tgC		chromosome 4 open reading frame 19							53.0	58.0	56.0					4																	37591911		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37591911G>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.234G>C	4.37:g.37591911G>C	ENSP00000284437:p.Trp78Cys					C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.W78C	p.W78C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	412	+			78					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.234G>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821477	0.32237	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.32753	1.44;1.44	4.29	3.42	0.39159	.	0.974920	0.08400	N	0.951617	T	0.38054	0.1026	L	0.34521	1.04	0.09310	N	0.999996	D	0.69078	0.997	P	0.60473	0.875	T	0.17349	-1.0372	10	0.34782	T	0.22	1.0683	7.1644	0.25683	0.0922:0.1746:0.7332:0.0	.	78	Q8IY42	CD019_HUMAN	C	78	ENSP00000371408:W78C;ENSP00000284437:W78C	ENSP00000284437:W78C	W	+	3	0	C4orf19	37268306	0.084000	0.21492	0.008000	0.14137	0.027000	0.11550	0.968000	0.29357	0.975000	0.38392	0.655000	0.94253	TGG		0.627	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		6	27	0	0	0	1	0	6	27				
PGC	5225	broad.mit.edu	37	6	41710082	41710082	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:41710082C>T	ENST00000373025.3	-	5	655	c.593G>A	c.(592-594)gGc>gAc	p.G198D	PGC_ENST00000425343.2_Missense_Mutation_p.G198D	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	198					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGCACCATGCCCTGCATAGC	0.627																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(592-594)gGc>gAc		progastricsin (pepsinogen C)							111.0	86.0	94.0					6																	41710082		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41710082C>T		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.593G>A	6.37:g.41710082C>T	ENSP00000362116:p.Gly198Asp					PGC_ENST00000425343.2_Missense_Mutation_p.G198D	p.G198D	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		5	655	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		198					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.593G>A	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657371	0.29425	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.56941	0.43;0.43;0.43	4.42	2.63	0.31362	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.490829	0.21463	N	0.074139	T	0.55321	0.1913	M	0.73598	2.24	0.32597	N	0.526407	D	0.62365	0.991	D	0.65443	0.935	T	0.57728	-0.7761	10	0.59425	D	0.04	.	8.9706	0.35903	0.0:0.7466:0.0:0.2533	.	198	P20142	PEPC_HUMAN	D	198;119;119;198	ENSP00000362116:G198D;ENSP00000349094:G119D;ENSP00000405094:G198D	ENSP00000349094:G119D	G	-	2	0	PGC	41818060	0.987000	0.35691	0.848000	0.33437	0.003000	0.03518	0.298000	0.19120	0.496000	0.27904	-0.258000	0.10820	GGC		0.627	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			3	49	0	0	0	1	0	3	49				
OR8H2	390151	broad.mit.edu	37	11	55872975	55872975	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:55872975T>C	ENST00000313503.1	+	1	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTGATTGGCTTTATAGACTC	0.443										HNSCC(53;0.14)																												ENST00000313503.1																			1	Substitution - Missense(1)	p.F153L(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(457-459)Ttt>Ctt		olfactory receptor, family 8, subfamily H, member 2							219.0	196.0	203.0					11																	55872975		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872975T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.457T>C	11.37:g.55872975T>C	ENSP00000323982:p.Phe153Leu	HNSCC(53;0.14)					p.F153L	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	457	+	Esophageal squamous(21;0.00693)		153					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.457T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	8.864	0.947549	0.18356	.	.	ENSG00000181767	ENST00000313503	T	0.00039	8.85	3.58	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.647404	0.14525	N	0.314244	T	0.00073	0.0002	N	0.16656	0.425	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.17930	-1.0353	10	0.30854	T	0.27	.	1.0023	0.01479	0.154:0.2147:0.1575:0.4737	.	153	Q8N162	OR8H2_HUMAN	L	153	ENSP00000323982:F153L	ENSP00000323982:F153L	F	+	1	0	OR8H2	55629551	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.946000	0.03905	0.081000	0.16988	0.362000	0.22060	TTT		0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		14	97	0	0	0	1	0	14	97				
TP53	7157	broad.mit.edu	37	17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A	rs587782596		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr17:7578389G>A	ENST00000269305.4	-	5	730	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000420246.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGAGCAGCGCTCATGGTGG	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		63	Substitution - Missense(24)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)	large_intestine(13)|lung(9)|upper_aerodigestive_tract(7)|liver(6)|breast(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|biliary_tract(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920672	TP53	M		c.(541-543)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578389		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578389G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.541C>T	17.37:g.7578389G>A	ENSP00000269305:p.Arg181Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C	p.R181C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	673	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.541C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710022	0.48517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.83953	2.67	0.80722	D	1	B;B;D;P;B;B;P	0.71674	0.292;0.143;0.998;0.578;0.183;0.173;0.765	B;B;D;B;B;B;B	0.70227	0.078;0.072;0.968;0.104;0.192;0.144;0.182	D	0.97431	1.0015	10	0.87932	D	0	-14.2374	17.1938	0.86887	0.0:0.0:1.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181C;ENSP00000352610:R181C;ENSP00000269305:R181C;ENSP00000398846:R181C;ENSP00000391127:R181C;ENSP00000391478:R181C;ENSP00000425104:R49C;ENSP00000423862:R88C	ENSP00000269305:R181C	R	-	1	0	TP53	7519114	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.058000	0.76676	2.735000	0.93741	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	45	0	0	0	1	0	6	45				
SLC47A1	55244	broad.mit.edu	37	17	19451300	19451300	+	Silent	SNP	G	G	A	rs202097418		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr17:19451300G>A	ENST00000270570.4	+	4	395	c.309G>A	c.(307-309)acG>acA	p.T103T	SLC47A1_ENST00000436810.2_Silent_p.T80T|SLC47A1_ENST00000575023.1_Silent_p.T103T|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000542886.1_Silent_p.T103T|SLC47A1_ENST00000457293.1_Silent_p.T103T|SLC47A1_ENST00000395585.1_Silent_p.T103T|SLC47A1_ENST00000571335.1_5'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	103					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CACCCCAGACGTACGGGAGCC	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.001					ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(307-309)acG>acA		solute carrier family 47 (multidrug and toxin extrusion), member 1							111.0	100.0	104.0					17																	19451300		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19451300G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.309G>A	17.37:g.19451300G>A						SLC47A1_ENST00000436810.2_Silent_p.T80T|SLC47A1_ENST00000542886.1_Silent_p.T103T|SLC47A1_ENST00000457293.1_Silent_p.T103T|SLC47A1_ENST00000395585.1_Silent_p.T103T|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000575023.1_Silent_p.T103T|SLC47A1_ENST00000584348.1_3'UTR	p.T103T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			4	395	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		103					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.309G>A	CCDS11209.1																																																																																				0.582	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		4	25	0	0	0	1	0	4	25				
MUC16	94025	broad.mit.edu	37	19	9059816	9059816	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:9059816T>C	ENST00000397910.4	-	3	27833	c.27630A>G	c.(27628-27630)atA>atG	p.I9210M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9212	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGCCAGTATTTCAGCTG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27628-27630)atA>atG		mucin 16, cell surface associated							125.0	118.0	121.0					19																	9059816		1973	4160	6133	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059816T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27630A>G	19.37:g.9059816T>C	ENSP00000381008:p.Ile9210Met						p.I9210M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27833	-			9212			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27630A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	0.254	-1.004128	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.27256	1.68	2.29	-4.57	0.03421	.	.	.	.	.	T	0.14527	0.0351	N	0.24115	0.695	.	.	.	P	0.43885	0.82	B	0.43950	0.437	T	0.09596	-1.0667	8	0.87932	D	0	.	0.4766	0.00541	0.3399:0.223:0.2598:0.1773	.	9210	B5ME49	.	M	9210	ENSP00000381008:I9210M	ENSP00000381008:I9210M	I	-	3	3	MUC16	8920816	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.758000	0.01810	-3.199000	0.00217	-0.682000	0.03756	ATA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	42	0	0	0	1	0	3	42				
TTN	7273	broad.mit.edu	37	2	179403722	179403722	+	Silent	SNP	C	C	T	rs371041107		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr2:179403722C>T	ENST00000591111.1	-	303	94241	c.94017G>A	c.(94015-94017)ctG>ctA	p.L31339L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Silent_p.L23915L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000589042.1_Silent_p.L32980L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31339	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCTCACTCAGGCCAACAT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98938-98940)ctG>ctA		titin		C	,,,	0,4124		0,0,2062	159.0	157.0	158.0		71745,91236,72120,72321	-12.1	0.1	2		158	1,8391		0,1,4195	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6257	TT,TC,CC		0.0119,0.0,0.0080	,,,	23915/26927,30412/33424,24040/27052,24107/27119	179403722	1,12515	2062	4196	6258	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403722C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94017G>A	2.37:g.179403722C>T						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L31339L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Silent_p.L30412L|TTN_ENST00000460472.2_Silent_p.L23915L|TTN_ENST00000359218.5_Silent_p.L24040L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L24107L	p.L32980L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		353	99164	-			31339					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.98940G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	31	0	0	0	1	0	7	31				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																0							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	25	0	0	0	1	0	3	25				
NLRP12	91662	broad.mit.edu	37	19	54314477	54314477	+	Missense_Mutation	SNP	G	G	A	rs200736514	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:54314477G>A	ENST00000324134.6	-	3	604	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCCTAGGCGCGCATTGCGG	0.572																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(436-438)Cgc>Tgc		NLR family, pyrin domain containing 12							91.0	88.0	89.0					19																	54314477		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314477G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.436C>T	19.37:g.54314477G>A	ENSP00000319377:p.Arg146Cys					NLRP12_ENST00000391773.1_Missense_Mutation_p.R146C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R146C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R146C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R146C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R146C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R146C	p.R146C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	604	-	Ovarian(34;0.19)		146					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.436C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168238	0.38315	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.47	4.47	0.54385	.	0.000000	0.42294	D	0.000728	D	0.92893	0.7739	M	0.68317	2.08	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.92711	0.6183	10	0.45353	T	0.12	.	15.0639	0.71977	0.0:0.0:1.0:0.0	.	146;146;146;146	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	146	ENSP00000319377:R146C;ENSP00000438030:R146C;ENSP00000340473:R146C;ENSP00000346231:R146C;ENSP00000375655:R146C;ENSP00000375653:R146C;ENSP00000375652:R146C	ENSP00000319377:R146C	R	-	1	0	NLRP12	59006289	0.003000	0.15002	0.713000	0.30519	0.981000	0.71138	0.672000	0.25187	2.228000	0.72767	0.306000	0.20318	CGC		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	77	0	0	0	1	0	13	77				
FAT4	79633	broad.mit.edu	37	4	126411435	126411435	+	Silent	SNP	G	G	C			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr4:126411435G>C	ENST00000394329.3	+	17	13471	c.13458G>C	c.(13456-13458)ggG>ggC	p.G4486G	FAT4_ENST00000335110.5_Silent_p.G2727G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4429G(1)|p.G4486G(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCTGCGGGGCATGTCTGTG	0.622																																						ENST00000394329.3																			2	Substitution - coding silent(2)	p.G4429G(1)|p.G4486G(1)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13456-13458)ggG>ggC		FAT atypical cadherin 4							88.0	86.0	87.0					4																	126411435		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411435G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13458G>C	4.37:g.126411435G>C						FAT4_ENST00000335110.5_Silent_p.G2727G	p.G4486G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13471	+			4486					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13458G>C	CCDS3732.3																																																																																				0.622	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	43	0	0	0	1	0	7	43				
DNAH3	55567	broad.mit.edu	37	16	20974749	20974749	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr16:20974749G>A	ENST00000261383.3	-	53	10456	c.10457C>T	c.(10456-10458)cCa>cTa	p.P3486L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3486					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGGACCGCTGGCACCATTTT	0.532																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10456-10458)cCa>cTa		dynein, axonemal, heavy chain 3							92.0	81.0	84.0					16																	20974749		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20974749G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10457C>T	16.37:g.20974749G>A	ENSP00000261383:p.Pro3486Leu					DNAH3_ENST00000415178.1_3'UTR	p.P3486L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10456	-			3486					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10457C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591522	0.66219	.	.	ENSG00000158486	ENST00000261383	T	0.06849	3.25	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04961	-1.0915	10	0.11485	T	0.65	.	19.4388	0.94809	0.0:0.0:1.0:0.0	.	3486	Q8TD57	DYH3_HUMAN	L	3486	ENSP00000261383:P3486L	ENSP00000261383:P3486L	P	-	2	0	DNAH3	20882250	1.000000	0.71417	0.928000	0.36995	0.074000	0.17049	6.740000	0.74832	2.590000	0.87494	0.655000	0.94253	CCA		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	31	0	0	0	1	0	3	31				
RPH3A	22895	broad.mit.edu	37	12	113307699	113307699	+	Splice_Site	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:113307699C>A	ENST00000389385.4	+	10	1148	c.651C>A	c.(649-651)ggC>ggA	p.G217G	RPH3A_ENST00000420983.2_Splice_Site_p.G217G|RPH3A_ENST00000543106.2_Splice_Site_p.G217G|RPH3A_ENST00000551052.1_Splice_Site_p.G213G|RPH3A_ENST00000415485.3_Splice_Site_p.G217G|RPH3A_ENST00000548866.1_Splice_Site_p.G168G|RPH3A_ENST00000447659.2_Splice_Site_p.G168G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	217	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCTTTCCAGGCCCTGACCCAG	0.547																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.e10-1		rabphilin 3A homolog (mouse)							117.0	114.0	115.0					12																	113307699		2203	4300	6503	SO:0001630	splice_region_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307699C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.650-1C>A	12.37:g.113307699C>A						RPH3A_ENST00000551052.1_Splice_Site_p.G213_splice|RPH3A_ENST00000543106.2_Splice_Site_p.G217_splice|RPH3A_ENST00000548866.1_Splice_Site_p.G168_splice|RPH3A_ENST00000420983.2_Splice_Site_p.G217_splice|RPH3A_ENST00000447659.2_Splice_Site_p.G168_splice|RPH3A_ENST00000415485.3_Splice_Site_p.G217_splice|RPH3A_ENST00000549913.2_3'UTR	p.G217_splice	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1148	+			217			Pro-rich.		B7Z3C3|Q96AE0	Splice_Site	SNP	ENST00000389385.4	37	c.649_splice	CCDS44979.1																																																																																				0.547	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	Silent	7	38	1	0	0.27861	1	0.289755	7	38				
SLC30A8	169026	broad.mit.edu	37	8	118169934	118169934	+	Silent	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr8:118169934C>T	ENST00000456015.2	+	4	423	c.423C>T	c.(421-423)atC>atT	p.I141I	SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000427715.2_Silent_p.I92I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	141					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCCTAGAGATCCTTGGTGCCC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(274-276)atC>atT		solute carrier family 30 (zinc transporter), member 8							309.0	287.0	295.0					8																	118169934		2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118169934C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.423C>T	8.37:g.118169934C>T						SLC30A8_ENST00000521243.1_Silent_p.I92I|SLC30A8_ENST00000519688.1_Silent_p.I92I|SLC30A8_ENST00000456015.2_Silent_p.I141I	p.I92I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	710	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		141					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.276C>T	CCDS6322.1																																																																																				0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		13	103	0	0	0	1	0	13	103				
HSPG2	3339	broad.mit.edu	37	1	22170669	22170669	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:22170669C>T	ENST00000374695.3	-	65	8667	c.8588G>A	c.(8587-8589)cGt>cAt	p.R2863H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2863	Ig-like C2-type 14.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTTTCCTCCACGCTTGTGCCA	0.642																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8587-8589)cGt>cAt		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						69.0	63.0	65.0					1																	22170669		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22170669C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8588G>A	1.37:g.22170669C>T	ENSP00000363827:p.Arg2863His						p.R2863H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	65	8667	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2863			Ig-like C2-type 14.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8588G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981001	0.53827	.	.	ENSG00000142798	ENST00000374695	T	0.15372	2.43	4.43	3.51	0.40186	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37348	N	0.002130	T	0.30572	0.0769	L	0.58354	1.805	0.29497	N	0.855191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.09185	-1.0686	10	0.27785	T	0.31	.	6.1222	0.20159	0.0:0.7034:0.1914:0.1052	.	803;2863	Q59EG0;P98160	.;PGBM_HUMAN	H	2863	ENSP00000363827:R2863H	ENSP00000363827:R2863H	R	-	2	0	HSPG2	22043256	0.928000	0.31464	0.973000	0.42090	0.641000	0.38312	1.719000	0.38011	0.838000	0.34948	0.462000	0.41574	CGT		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	37	0	0	0	1	0	6	37				
TOR3A	64222	broad.mit.edu	37	1	179064325	179064325	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:179064325C>T	ENST00000367627.3	+	6	1918	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	389					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAGTCTATTTCCCAGAGGATT	0.493																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1165-1167)tCc>tTc		torsin family 3, member A							158.0	165.0	163.0					1																	179064325		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064325C>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1166C>T	1.37:g.179064325C>T	ENSP00000356599:p.Ser389Phe					TOR3A_ENST00000352445.6_Intron	p.S389F	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN			6	1918	+			389					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1166C>T	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052770	0.75960	.	.	ENSG00000186283	ENST00000367627	T	0.61742	0.08	5.91	5.91	0.95273	.	0.352416	0.34362	N	0.004024	T	0.75265	0.3826	M	0.76838	2.35	0.80722	D	1	D	0.67145	0.996	P	0.61328	0.887	T	0.73442	-0.3981	10	0.39692	T	0.17	-23.5423	19.2867	0.94077	0.0:1.0:0.0:0.0	.	389	Q9H497	TOR3A_HUMAN	F	389	ENSP00000356599:S389F	ENSP00000356599:S389F	S	+	2	0	TOR3A	177330948	0.961000	0.32948	0.989000	0.46669	0.972000	0.66771	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	TCC		0.493	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		8	131	0	0	0	1	0	8	131				
SWSAP1	126074	broad.mit.edu	37	19	11486247	11486247	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr19:11486247C>A	ENST00000312423.2	+	2	304	c.245C>A	c.(244-246)gCc>gAc	p.A82D	CTD-2342J14.6_ENST00000590399.1_RNA	NM_175871.3	NP_787067.2	Q6NVH7	SWAP1_HUMAN	SWIM-type zinc finger 7 associated protein 1	82					ATP catabolic process (GO:0006200)|double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	ATPase activity (GO:0016887)|single-stranded DNA binding (GO:0003697)										CTGTGCTCTGCCCATGAGGCC	0.612																																						ENST00000312423.2																			0											c.(244-246)gCc>gAc		SWIM-type zinc finger 7 associated protein 1							89.0	106.0	101.0					19																	11486247		2203	4300	6503	SO:0001583	missense	126074							g.chr19:11486247C>A	AK092438	CCDS12259.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000173928	ENSG00000173928			26638	protein-coding gene	gene with protein product	"""zinc finger, SWIM-type containing 7 associated protein 1"", ""SWS1-associated protein 1"""	614536	"""chromosome 19 open reading frame 39"""	C19orf39		21965664	Standard	NM_175871		Approved	FLJ35119, ZSWIM7AP1, SWS1AP1	uc002mrg.1	Q6NVH7		ENST00000312423.2:c.245C>A	19.37:g.11486247C>A	ENSP00000310008:p.Ala82Asp						p.A82D	NM_175871.3	NP_787067.2	Q6NVH7	CS039_HUMAN			2	304	+			82					Q8NAM1	Missense_Mutation	SNP	ENST00000312423.2	37	c.245C>A	CCDS12259.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230514	0.79688	.	.	ENSG00000173928	ENST00000312423	T	0.79033	-1.23	5.17	4.08	0.47627	.	0.277618	0.30060	N	0.010507	D	0.82751	0.5105	M	0.65975	2.015	0.30877	N	0.731801	D	0.76494	0.999	D	0.72338	0.977	T	0.80708	-0.1262	10	0.72032	D	0.01	-18.7388	4.1949	0.10438	0.0:0.6105:0.2413:0.1482	.	82	Q6NVH7	CS039_HUMAN	D	82	ENSP00000310008:A82D	ENSP00000310008:A82D	A	+	2	0	C19orf39	11347247	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.120000	0.41968	2.419000	0.82065	0.655000	0.94253	GCC		0.612	SWSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458789.1	NM_175871		4	108	1	0	1	1	1	4	108				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	52	0	0	0	1	0	4	52				
OR5M1	390168	broad.mit.edu	37	11	56380683	56380683	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr11:56380683G>A	ENST00000526538.1	-	1	295	c.296C>T	c.(295-297)aCa>aTa	p.T99I		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGACACTGTGTGAAGCATCC	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(295-297)aCa>aTa		olfactory receptor, family 5, subfamily M, member 1							161.0	148.0	152.0					11																	56380683		1957	4157	6114	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380683G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.296C>T	11.37:g.56380683G>A	ENSP00000435416:p.Thr99Ile						p.T99I	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	295	-			99					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.296C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	0.323	-0.960634	0.02249	.	.	ENSG00000255012	ENST00000526538	T	0.08807	3.05	3.71	0.182	0.15077	GPCR, rhodopsin-like superfamily (1);	0.174789	0.27406	N	0.019511	T	0.03739	0.0106	N	0.10837	0.055	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44667	-0.9313	10	0.20519	T	0.43	-10.6668	8.4656	0.32953	0.3587:0.0:0.6413:0.0	.	99	Q8NGP8	OR5M1_HUMAN	I	99	ENSP00000435416:T99I	ENSP00000435416:T99I	T	-	2	0	OR5M1	56137259	0.000000	0.05858	0.696000	0.30242	0.345000	0.29048	-0.032000	0.12266	0.214000	0.20742	0.280000	0.19369	ACA		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		4	42	0	0	0	1	0	4	42				
DISC1	27185	broad.mit.edu	37	1	231906802	231906802	+	Frame_Shift_Del	DEL	G	G	-	rs148583596		TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr1:231906802delG	ENST00000602281.1	+	6	1673	c.1620delG	c.(1618-1620)ccgfs	p.P540fs	DISC1_ENST00000439617.2_Frame_Shift_Del_p.P540fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.P190fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.P540fs|DISC1_ENST00000535983.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Frame_Shift_Del_p.P540fs|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Frame_Shift_Del_p.P540fs	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	540	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAGAGCCACCGGAAACCATAA	0.537																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1618-1620)ccfs		disrupted in schizophrenia 1							38.0	29.0	32.0					1																	231906802		2202	4300	6502	SO:0001589	frameshift_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231906802delG	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1620delG	1.37:g.231906802delG	ENSP00000473425:p.Pro540fs					DISC1_ENST00000537876.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000539444.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000602873.1_Frame_Shift_Del_p.P190fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Frame_Shift_Del_p.P540fs|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366636.4_Frame_Shift_Del_p.P540fs|DISC1_ENST00000366633.3_Frame_Shift_Del_p.P540fs	p.P540fs	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			6	1673	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	540			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Frame_Shift_Del	DEL	ENST00000602281.1	37	c.1620delG	CCDS59205.1																																																																																				0.537	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		2	4						2	4	---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35471404	35471404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:35471404delG	ENST00000229771.6	-	13	1334	c.1255delC	c.(1255-1257)cggfs	p.R420fs	TULP1_ENST00000322263.4_Frame_Shift_Del_p.R367fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	420			R -> P (in RP14; no effect on RPE phagocytosis). {ECO:0000269|PubMed:9462750}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R419W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCATGCGCCGGGGGCCACGG	0.662																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			1	Substitution - Missense(1)	p.R419W(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1255-1257)ggfs		tubby like protein 1							21.0	22.0	22.0					6																	35471404		2201	4298	6499	SO:0001589	frameshift_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471404delG	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1255delC	6.37:g.35471404delG	ENSP00000229771:p.Arg420fs					TULP1_ENST00000322263.4_Frame_Shift_Del_p.R367fs	p.R420fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			13	1334	-			420		R -> P (in RP14; no effect on RPE phagocytosis).			O43536|Q5TGM5|Q8N571	Frame_Shift_Del	DEL	ENST00000229771.6	37	c.1255delC	CCDS4807.1																																																																																				0.662	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			2	4						2	4	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43497088	43497089	+	Intron	INS	-	-	T	rs546413926|rs376916252|rs143794012	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr6:43497088_43497089insT	ENST00000265351.7	-	24	2888				POLR1C_ENST00000304004.3_Frame_Shift_Ins_p.G342fs	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			agaccatcctggctaacatggt	0.495													-|-|T|insertion	29	0.00579073	0.0212	0.0014	5008	,	,		11268	0.0		0.0	False		,,,				2504	0.0					ENST00000304004.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(1024-1026)ctafs		polymerase (RNA) I polypeptide C, 30kDa				68,4174		1,66,2054						-0.3	0.0		dbSNP_134	55	2,8224		0,2,4111	no	intron	XPO5	NM_020750.2		1,68,6165	A1A1,A1R,RR		0.0243,1.603,0.5614				70,12398				SO:0001627	intron_variant	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43497088_43497089insT	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2678-425->A	6.37:g.43497088_43497089insT						XPO5_ENST00000265351.7_Intron	p.L342fs			O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		9	1045_1046	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		0					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Frame_Shift_Ins	INS	ENST00000265351.7	37	c.1024_1025insT	CCDS47430.1																																																																																				0.495	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		4	3						4	3	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AACAAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr12:13174141_13174142insAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55														3331	0.665136	0.6921	0.6945	5008	,	,		16318	0.745		0.5417	False		,,,				2504	0.6524					ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAACAAC																													12.37:g.13174142_13174147dupAACAAC														0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			2	4						2	4	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-V1-A8MJ-01A-11D-A364-08	TCGA-V1-A8MJ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1613b958-7660-4968-b373-04b00f3f47c3	80182c4a-c41d-454a-bd5a-62ba971b8050	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			2	4						2	4	---	---	---	---
