#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PER3	8863	broad.mit.edu	37	1	7880227	7880227	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:7880227A>T	ENST00000361923.2	+	14	1862	c.1687A>T	c.(1687-1689)Aca>Tca	p.T563S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.T571S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	563	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TATCTCCTGTACAAATACAAC	0.398																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1687-1689)ACA>TCA		period 3							120.0	111.0	114.0					1																	7880227		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7880227A>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1687A>T	1.37:g.7880227A>T	ENSP00000355031:p.Thr563Ser					PER3_uc009vmg.1_Missense_Mutation_p.T571S|PER3_uc009vmh.1_Missense_Mutation_p.T564S|PER3_uc001aop.2_Missense_Mutation_p.T571S|PER3_uc010nzw.1_Missense_Mutation_p.T252S	p.T563S	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	14	1862	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	563			CSNK1E binding domain (By similarity).		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.1687A>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	A	7.080	0.570067	0.13560	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.06849	3.27;3.25	4.07	0.312	0.15837	.	0.688322	0.14185	N	0.335708	T	0.06371	0.0164	N	0.21194	0.64	0.09310	N	0.999996	D;P;P;D	0.54397	0.966;0.687;0.791;0.966	P;B;P;P	0.46144	0.505;0.268;0.457;0.505	T	0.40664	-0.9551	10	0.18276	T	0.48	.	8.603	0.33756	0.6299:0.0:0.3701:0.0	.	563;571;571;563	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	571;563	ENSP00000366755:T571S;ENSP00000355031:T563S	ENSP00000355031:T563S	T	+	1	0	PER3	7802814	0.027000	0.19231	0.006000	0.13384	0.743000	0.42351	0.138000	0.16016	-0.044000	0.13491	-0.417000	0.06048	ACA		0.398	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		5	59	0	0	0	0	5	59				
ASH1L	55870	broad.mit.edu	37	1	155319129	155319129	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr1:155319129G>A	ENST00000368346.3	-	19	8197	c.7558C>T	c.(7558-7560)Cgg>Tgg	p.R2520W	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2515W|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2520	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAGCATTCCGAAAGACTTTG	0.383																																						uc009wqq.2		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7558-7560)CGG>TGG		absent, small, or homeotic 1-like							83.0	83.0	83.0					1																	155319129		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155319129G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7558C>T	1.37:g.155319129G>A	ENSP00000357330:p.Arg2520Trp					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2515W|MIR555_hsa-mir-555|MI0003561_5'Flank	p.R2520W	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		19	8038	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2520			Bromo.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7558C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.044680	0.75732	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.30981	1.51;1.51	4.67	2.74	0.32292	Bromodomain (5);	0.058646	0.64402	D	0.000001	T	0.38904	0.1058	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.38373	-0.9664	10	0.87932	D	0	.	12.9767	0.58542	0.0:0.0:0.6885:0.3115	.	2520;2515	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	W	2520;2515	ENSP00000357330:R2520W;ENSP00000376204:R2515W	ENSP00000357330:R2520W	R	-	1	2	ASH1L	153585753	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.354000	0.52254	0.547000	0.28938	0.455000	0.32223	CGG		0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	57	0	0	0	0	7	57				
HKDC1	80201	broad.mit.edu	37	10	71003038	71003038	+	Silent	SNP	C	C	T	rs138098227		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr10:71003038C>T	ENST00000354624.5	+	7	925	c.792C>T	c.(790-792)ttC>ttT	p.F264F	HKDC1_ENST00000395086.2_Silent_p.F264F	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	264	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGGGCCTTCGGGGACGACG	0.592																																						uc001jpf.3		NA																	0				ovary(4)|skin(1)	5						c.(790-792)TTC>TTT		hexokinase domain containing 1		C		1,4405	2.1+/-5.4	0,1,2202	98.0	96.0	96.0		792	-5.8	0.9	10	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	HKDC1	NM_025130.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		264/918	71003038	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71003038C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.792C>T	10.37:g.71003038C>T						HKDC1_uc010qje.1_Silent_p.F127F	p.F264F	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			7	925	+			264					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	ENST00000354624.5	37	c.792C>T	CCDS7288.1																																																																																				0.592	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		5	87	0	0	0	0	5	87				
TAF10	6881	broad.mit.edu	37	11	6632457	6632457	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:6632457T>C	ENST00000299424.4	-	4	1007	c.530A>G	c.(529-531)aAg>aGg	p.K177R	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	177					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCGTGCCCTTCATTTTGCA	0.488																																						uc001mej.1		NA																	0					0						c.(529-531)AAG>AGG		TBP-related factor 10							74.0	76.0	75.0					11																	6632457		2201	4296	6497	SO:0001583	missense	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632457T>C	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.530A>G	11.37:g.6632457T>C	ENSP00000299424:p.Lys177Arg						p.K177R	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	4	555	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	177					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.530A>G	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	T	5.225	0.227049	0.09916	.	.	ENSG00000166337	ENST00000299424	T	0.26660	1.72	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.05135	0.0137	N	0.00109	-2.105	0.80722	D	1	B	0.22146	0.065	B	0.24541	0.054	T	0.38693	-0.9649	10	0.02654	T	1	-10.6214	12.6798	0.56916	0.0:0.0:0.0:1.0	.	177	Q12962	TAF10_HUMAN	R	177	ENSP00000299424:K177R	ENSP00000299424:K177R	K	-	2	0	TAF10	6589033	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.682000	0.84083	2.093000	0.63338	0.533000	0.62120	AAG		0.488	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		5	64	0	0	0	0	5	64				
TAS2R30	259293	broad.mit.edu	37	12	11286073	11286073	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:11286073C>A	ENST00000539585.1	-	1	1170	c.771G>T	c.(769-771)aaG>aaT	p.K257N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	257					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGACAGGTTGCTTTTCCAGCC	0.388																																						uc009zhs.1		NA																	0					0						c.(769-771)AAG>AAT		type 2 taste receptor member 30							133.0	143.0	139.0					12																	11286073		2202	4299	6501	SO:0001583	missense	259293							g.chr12:11286073C>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.771G>T	12.37:g.11286073C>A	ENSP00000444736:p.Lys257Asn					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.K257N	NM_001097643	NP_001091112					1	771	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.771G>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.327820	0.00017	.	.	ENSG00000256188	ENST00000539585	T	0.00705	5.81	2.04	-4.08	0.03963	.	.	.	.	.	T	0.00241	0.0007	N	0.00885	-1.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41270	-0.9518	9	0.02654	T	1	.	0.9834	0.01441	0.4631:0.1751:0.1248:0.237	.	257	P59541	T2R30_HUMAN	N	257	ENSP00000444736:K257N	ENSP00000444736:K257N	K	-	3	2	TAS2R30	11177340	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.836000	0.00740	-3.707000	0.00118	-0.666000	0.03841	AAG		0.388	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		12	116	1	0	1.58e-08	1.75e-08	12	116				
EID3	493861	broad.mit.edu	37	12	104698633	104698633	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr12:104698633A>G	ENST00000527879.1	+	1	1117	c.921A>G	c.(919-921)atA>atG	p.I307M	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGGGAGTTATATCTTTGACTT	0.398																																						uc001tkw.2		NA																	0					0						c.(919-921)ATA>ATG		EP300 interacting inhibitor of differentiation							101.0	98.0	99.0					12																	104698633		1848	4093	5941	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698633A>G	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.921A>G	12.37:g.104698633A>G	ENSP00000435619:p.Ile307Met					TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	p.I307M	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN			1	1085	+			307						Missense_Mutation	SNP	ENST00000527879.1	37	c.921A>G	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053127	0.55218	.	.	ENSG00000255150	ENST00000527879	T	0.46063	0.88	4.78	2.33	0.28932	.	.	.	.	.	T	0.46908	0.1417	L	0.43152	1.355	0.30676	N	0.752821	D	0.56746	0.977	P	0.60236	0.871	T	0.43556	-0.9384	9	0.22109	T	0.4	.	9.0426	0.36327	0.5895:0.4105:0.0:0.0	.	307	Q8N140	EID3_HUMAN	M	307	ENSP00000435619:I307M	ENSP00000435619:I307M	I	+	3	3	EID3	103222763	1.000000	0.71417	0.982000	0.44146	0.966000	0.64601	0.718000	0.25866	0.393000	0.25203	0.454000	0.30748	ATA		0.398	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		10	63	0	0	0	0	10	63				
EPSTI1	94240	broad.mit.edu	37	13	43500540	43500540	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr13:43500540G>T	ENST00000398762.3	-	7	588	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	EPSTI1_ENST00000313624.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000313640.7_Missense_Mutation_p.L197M|EPSTI1_ENST00000476830.2_5'UTR			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	197										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCTGTGTTCAGTTTGCTCAAG	0.428																																						uc001uyw.1		NA																	0				ovary(1)	1						c.(589-591)CTG>ATG		epithelial stromal interaction 1 isoform 1							242.0	229.0	233.0					13																	43500540		2203	4300	6503	SO:0001583	missense	94240							g.chr13:43500540G>T	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.589C>A	13.37:g.43500540G>T	ENSP00000381746:p.Leu197Met					EPSTI1_uc001uyx.1_Missense_Mutation_p.L197M	p.L197M	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	7	665	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	197					Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	ENST00000398762.3	37	c.589C>A	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691286	0.30052	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762;ENST00000537828	T	0.21932	1.98	5.06	3.17	0.36434	.	0.206952	0.31821	N	0.007006	T	0.17492	0.0420	L	0.50333	1.59	0.25817	N	0.984324	P;P	0.52061	0.944;0.95	B;B	0.43301	0.415;0.324	T	0.12502	-1.0545	10	0.40728	T	0.16	-2.8414	4.4018	0.11390	0.1932:0.0:0.6311:0.1757	.	197;197	Q96J88-2;Q96J88-3	.;.	M	197;197;197;70	ENSP00000318982:L197M	ENSP00000318643:L197M	L	-	1	2	EPSTI1	42398540	0.999000	0.42202	0.892000	0.35008	0.078000	0.17371	0.638000	0.24674	0.695000	0.31675	0.655000	0.94253	CTG		0.428	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		12	170	1	0	0.00010058	0.000108775	12	170				
PRKD1	5587	broad.mit.edu	37	14	30100144	30100144	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1474-1476)TTC>TTT		protein kinase D1							130.0	121.0	124.0					14																	30100144		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100144G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1476C>T	14.37:g.30100144G>A							p.F492F	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1657	-	Hepatocellular(127;0.0604)		492			PH.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1476C>T	CCDS9637.1																																																																																				0.398	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		7	80	0	0	0	0	7	80				
SERPINA12	145264	broad.mit.edu	37	14	94956062	94956062	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr14:94956062G>A	ENST00000341228.2	-	5	1743	c.948C>T	c.(946-948)acC>acT	p.T316T	SERPINA12_ENST00000556881.1_Silent_p.T316T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	316					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCAGGTCGAAGGTGCCCGTCA	0.532																																						uc001ydj.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(946-948)ACC>ACT		serine (or cysteine) proteinase inhibitor, clade							141.0	111.0	121.0					14																	94956062		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94956062G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.948C>T	14.37:g.94956062G>A							p.T316T	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1744	-			316						Silent	SNP	ENST00000341228.2	37	c.948C>T	CCDS9926.1																																																																																				0.532	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		5	50	0	0	0	0	5	50				
LDHAL6B	92483	broad.mit.edu	37	15	59499318	59499318	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr15:59499318G>A	ENST00000307144.4	+	1	277	c.179G>A	c.(178-180)cGt>cAt	p.R60H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	60					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CTTATTGAGCGTTTCACTTCC	0.552																																						uc002agb.2		NA																	0					0						c.(178-180)CGT>CAT		lactate dehydrogenase A-like 6B	NADH(DB00157)						113.0	102.0	105.0					15																	59499318		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499318G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.179G>A	15.37:g.59499318G>A	ENSP00000302393:p.Arg60His					MYO1E_uc002aga.2_Intron	p.R60H	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			1	277	+			60					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.179G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203848	0.09704	.	.	ENSG00000171989	ENST00000307144	D	0.90004	-2.6	1.47	-0.0568	0.13803	NAD(P)-binding domain (1);	0.264774	0.28871	U	0.013865	T	0.68842	0.3045	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56498	-0.7969	10	0.33141	T	0.24	.	2.3833	0.04359	0.4741:0.2908:0.235:0.0	.	60	Q9BYZ2	LDH6B_HUMAN	H	60	ENSP00000302393:R60H	ENSP00000302393:R60H	R	+	2	0	LDHAL6B	57286610	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	0.035000	0.13797	-0.230000	0.09840	0.305000	0.20034	CGT		0.552	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		5	78	0	0	0	0	5	78				
PMFBP1	83449	broad.mit.edu	37	16	72159281	72159281	+	Silent	SNP	T	T	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:72159281T>G	ENST00000237353.10	-	16	2538	c.2277A>C	c.(2275-2277)acA>acC	p.T759T	PMFBP1_ENST00000537465.1_Silent_p.T764T|PMFBP1_ENST00000355636.6_Silent_p.T614T|PMFBP1_ENST00000537792.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	764						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCAGGCTCTTTGTCTCTGAGG	0.483											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fcc.3		NA																	0				ovary(2)	2						c.(2290-2292)ACA>ACC		polyamine modulated factor 1 binding protein 1							197.0	194.0	195.0					16																	72159281		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72159281T>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2277A>C	16.37:g.72159281T>G			OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	PMFBP1_uc002fcd.2_Silent_p.T759T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.T614T|PMFBP1_uc010cgo.1_Silent_p.T55T	p.T764T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			16	2464	-		Ovarian(137;0.179)	764			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2292A>C	CCDS32483.1																																																																																				0.483	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		12	170	0	0	0	0	12	170				
CNTNAP4	85445	broad.mit.edu	37	16	76556036	76556036	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr16:76556036G>A	ENST00000476707.1	+	16	2785	c.2646G>A	c.(2644-2646)gtG>gtA	p.V882V	CNTNAP4_ENST00000478060.1_Silent_p.V806V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Silent_p.V878V|CNTNAP4_ENST00000377504.4_Silent_p.V830V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	879	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGCACCATGTGAGGGTTGAAA	0.527																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2635-2637)GTG>GTA		cell recognition protein CASPR4 isoform 1							148.0	148.0	148.0					16																	76556036		2052	4228	6280	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76556036G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2646G>A	16.37:g.76556036G>A						CNTNAP4_uc002fev.1_Silent_p.V743V|CNTNAP4_uc010chb.1_Silent_p.V806V|CNTNAP4_uc002fex.1_Silent_p.V882V	p.V879V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			19	3022	+			879			Extracellular (Potential).|Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2637G>A																																																																																					0.527	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		6	120	0	0	0	0	6	120				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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)	uc002gim.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		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>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.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	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_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	63	1	0	5.94e-07	6.52e-07	6	63				
PGLYRP2	114770	broad.mit.edu	37	19	15587145	15587145	+	Silent	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr19:15587145C>T	ENST00000340880.4	-	2	816	c.336G>A	c.(334-336)ctG>ctA	p.L112L	PGLYRP2_ENST00000292609.4_Silent_p.L112L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	112					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATCAGGTGCCAGCACCACCC	0.617																																						uc002nbf.3		NA																	0				ovary(3)	3						c.(334-336)CTG>CTA		peptidoglycan recognition protein 2 precursor							166.0	122.0	137.0					19																	15587145		2203	4300	6503	SO:0001819	synonymous_variant	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587145C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.336G>A	19.37:g.15587145C>T						PGLYRP2_uc002nbg.3_Silent_p.L112L	p.L112L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	469	-			112					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	c.336G>A	CCDS12330.2																																																																																				0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		9	105	0	0	0	0	9	105				
LTBP1	4052	broad.mit.edu	37	2	33567941	33567941	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:33567941G>A	ENST00000404816.2	+	25	4120	c.3767G>A	c.(3766-3768)aGt>aAt	p.S1256N	LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1257N|LTBP1_ENST00000407925.1_Missense_Mutation_p.S930N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000402934.1_Missense_Mutation_p.S877N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S931N|LTBP1_ENST00000404525.1_Missense_Mutation_p.S877N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1256	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTTTGTGACAGTCACGGGTTT	0.443																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3769-3771)AGT>AAT		latent transforming growth factor beta binding							168.0	143.0	152.0					2																	33567941		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33567941G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3767G>A	2.37:g.33567941G>A	ENSP00000386043:p.Ser1256Asn					LTBP1_uc002rot.2_Missense_Mutation_p.S931N|LTBP1_uc002rou.2_Missense_Mutation_p.S930N|LTBP1_uc002rov.2_Missense_Mutation_p.S877N|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	p.S1257N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			25	3770	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1256			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3770G>A	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.03|11.03	1.517690|1.517690	0.27123|0.27123	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925|ENST00000415140	D;D;D;D;D;D|.	0.92099|.	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97|.	5.91|5.91	3.01|3.01	0.34805|0.34805	.|.	.|.	.|.	.|.	.|.	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.10837|0.10837	0.055|0.055	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.12013|.	0.0;0.003;0.003;0.005|.	B;B;B;B|.	0.15870|.	0.004;0.005;0.008;0.014|.	T|T	0.03651|0.03651	-1.1016|-1.1016	9|5	0.37606|.	T|.	0.19|.	.|.	5.7451|5.7451	0.18116|0.18116	0.0625:0.2241:0.4821:0.2313|0.0625:0.2241:0.4821:0.2313	.|.	877;930;931;1257|.	Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;.;.;.|.	N|I	1256;1257;931;877;877;930|218	ENSP00000386043:S1256N;ENSP00000346467:S1257N;ENSP00000374653:S931N;ENSP00000384373:S877N;ENSP00000385359:S877N;ENSP00000384091:S930N|.	ENSP00000346467:S1257N|.	S|V	+|+	2|1	0|0	LTBP1|LTBP1	33421445|33421445	0.996000|0.996000	0.38824|0.38824	0.945000|0.945000	0.38365|0.38365	0.997000|0.997000	0.91878|0.91878	1.188000|1.188000	0.32102|0.32102	0.344000|0.344000	0.23847|0.23847	0.557000|0.557000	0.71058|0.71058	AGT|GTC		0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		6	46	0	0	0	0	6	46				
LRP1B	53353	broad.mit.edu	37	2	141243044	141243044	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:141243044C>T	ENST00000389484.3	-	59	10264	c.9293G>A	c.(9292-9294)gGa>gAa	p.G3098E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3098					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTTTTTTCCAATCCAATC	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9292-9294)GGA>GAA		low density lipoprotein-related protein 1B							136.0	127.0	130.0					2																	141243044		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243044C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9293G>A	2.37:g.141243044C>T	ENSP00000374135:p.Gly3098Glu	TSP Lung(27;0.18)					p.G3098E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	59	10265	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3098			Extracellular (Potential).|LDL-receptor class B 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9293G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621577	0.87460	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92858	-3.12	5.44	4.57	0.56435	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.86805	2.84	0.58432	D	0.999998	B	0.20988	0.05	B	0.18263	0.021	D	0.91160	0.4960	10	0.66056	D	0.02	.	14.5664	0.68179	0.0:0.9292:0.0:0.0708	.	3098	Q9NZR2	LRP1B_HUMAN	E	3098;3036	ENSP00000374135:G3098E	ENSP00000374135:G3098E	G	-	2	0	LRP1B	140959514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.454000	0.80714	1.426000	0.47256	0.655000	0.94253	GGA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	35	0	0	0	0	5	35				
CCDC148	130940	broad.mit.edu	37	2	159170404	159170404	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr2:159170404T>C	ENST00000283233.5	-	8	1080	c.767A>G	c.(766-768)aAc>aGc	p.N256S	CCDC148_ENST00000536771.1_Missense_Mutation_p.N170S|CCDC148_ENST00000409187.1_Missense_Mutation_p.N265S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	256										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TAGTTGACAGTTTCTAGAAGC	0.388																																						uc002tzq.2		NA																	0				ovary(2)	2						c.(766-768)AAC>AGC		coiled-coil domain containing 148							85.0	84.0	84.0					2																	159170404		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159170404T>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.767A>G	2.37:g.159170404T>C	ENSP00000283233:p.Asn256Ser					CCDC148_uc002tzr.2_Missense_Mutation_p.N104S|CCDC148_uc010foh.2_5'UTR|CCDC148_uc010foi.1_Missense_Mutation_p.N203S|CCDC148_uc010foj.1_Missense_Mutation_p.N104S|CCDC148_uc010fok.1_Missense_Mutation_p.N170S	p.N256S	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			8	1030	-			256					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.767A>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	9.856	1.194997	0.22037	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.32023	1.86;1.86;1.47	5.35	5.35	0.76521	.	.	.	.	.	T	0.39009	0.1062	M	0.69823	2.125	0.41614	D	0.988929	D;P;P;P;P	0.55385	0.971;0.835;0.835;0.799;0.799	P;B;B;B;B	0.48270	0.572;0.352;0.435;0.275;0.38	T	0.27020	-1.0086	9	0.20046	T	0.44	-6.8564	13.2892	0.60262	0.0:0.0:0.0:1.0	.	170;104;104;265;256	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	S	256;104;265;170	ENSP00000283233:N256S;ENSP00000386674:N265S;ENSP00000443740:N170S	ENSP00000283233:N256S	N	-	2	0	CCDC148	158878650	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.962000	0.49176	2.037000	0.60232	0.460000	0.39030	AAC		0.388	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		4	46	0	0	0	0	4	46				
CACNA1I	8911	broad.mit.edu	37	22	40059771	40059771	+	Silent	SNP	C	C	T	rs369811506		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr22:40059771C>T	ENST00000402142.3	+	19	3522	c.3522C>T	c.(3520-3522)taC>taT	p.Y1174Y	CACNA1I_ENST00000336649.4_Silent_p.Y1180Y|CACNA1I_ENST00000401624.1_Silent_p.Y1174Y|CACNA1I_ENST00000407673.1_Silent_p.Y1139Y|CACNA1I_ENST00000400164.3_Silent_p.Y1139Y|CACNA1I_ENST00000404898.1_Silent_p.Y1139Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1174					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTTCGACTACGTCGTCCTGG	0.632																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3520-3522)TAC>TAT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	C	,	0,4042		0,0,2021	116.0	122.0	120.0		3417,3522	-7.7	0.2	22		120	2,8346		0,2,4172	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,2,6193	TT,TC,CC		0.024,0.0,0.0161	,	1139/2189,1174/2224	40059771	2,12388	2021	4174	6195	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40059771C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3522C>T	22.37:g.40059771C>T						CACNA1I_uc003ayd.2_Silent_p.Y1139Y|CACNA1I_uc003aye.2_Silent_p.Y1089Y|CACNA1I_uc003ayf.2_Silent_p.Y1054Y	p.Y1174Y	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			19	3522	+	Melanoma(58;0.0749)		1174			Helical; Name=S1 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3522C>T	CCDS46710.1																																																																																				0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		9	96	0	0	0	0	9	96				
XIRP1	165904	broad.mit.edu	37	3	39230859	39230859	+	Silent	SNP	T	T	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:39230859T>G	ENST00000340369.3	-	2	306	c.78A>C	c.(76-78)ccA>ccC	p.P26P	XIRP1_ENST00000396251.1_Silent_p.P26P|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	26	Interaction with VASP.|Poly-Pro.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCTGGGGGTGGAGGGAGGG	0.637																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(76-78)CCA>CCC		xin actin-binding repeat containing 1																																				SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230859T>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.78A>C	3.37:g.39230859T>G						XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron	p.P26P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	299	-			26			Interaction with VASP.|Poly-Pro.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.78A>C	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	13	0	0	0	0	5	13				
WDR82	80335	broad.mit.edu	37	3	52304734	52304734	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:52304734T>C	ENST00000296490.3	-	2	534	c.253A>G	c.(253-255)Ata>Gta	p.I85V	MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	85					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTACCGTCTATTTTGTTAGAG	0.378																																						uc003ddl.2		NA																	0					0						c.(253-255)ATA>GTA		WD repeat domain 82							218.0	195.0	202.0					3																	52304734		1857	4102	5959	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52304734T>C	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.253A>G	3.37:g.52304734T>C	ENSP00000296490:p.Ile85Val					WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank	p.I85V	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	2	535	-			85					A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.253A>G	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464366	0.26335	.	.	ENSG00000164091	ENST00000296490	T	0.17528	2.27	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	N	0.01874	-0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34900	-0.9810	10	0.23302	T	0.38	-20.6676	16.0699	0.80919	0.0:0.0:0.0:1.0	.	85	Q6UXN9	WDR82_HUMAN	V	85	ENSP00000296490:I85V	ENSP00000296490:I85V	I	-	1	0	WDR82	52279774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.960000	0.87893	2.195000	0.70347	0.528000	0.53228	ATA		0.378	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222		7	134	0	0	0	0	7	134				
KPNA4	3840	broad.mit.edu	37	3	160227623	160227623	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:160227623T>A	ENST00000334256.4	-	14	1479	c.1174A>T	c.(1174-1176)Ata>Tta	p.I392L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	392	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGTTACTTATGGCCCAAGCA	0.318																																						uc003fdn.2		NA																	0					0						c.(1174-1176)ATA>TTA		karyopherin alpha 4							144.0	145.0	145.0					3																	160227623		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160227623T>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1174A>T	3.37:g.160227623T>A	ENSP00000334373:p.Ile392Leu						p.I392L	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		14	1480	-			392			ARM 8.|NLS binding site (minor) (By similarity).		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1174A>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193526	0.78902	.	.	ENSG00000186432	ENST00000334256	T	0.39406	1.08	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.38649	1.16	0.80722	D	1	B	0.10296	0.003	B	0.39119	0.291	T	0.48364	-0.9042	10	0.72032	D	0.01	-0.337	14.1788	0.65559	0.0:0.0:0.0:1.0	.	392	O00629	IMA4_HUMAN	L	392	ENSP00000334373:I392L	ENSP00000334373:I392L	I	-	1	0	KPNA4	161710317	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.798000	0.85924	2.019000	0.59389	0.254000	0.18369	ATA		0.318	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		18	137	0	0	0	0	18	137				
ST6GAL1	6480	broad.mit.edu	37	3	186760908	186760908	+	Silent	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr3:186760908C>T	ENST00000169298.3	+	4	1091	c.417C>T	c.(415-417)gcC>gcT	p.A139A	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.A139A	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	139					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTGCAGAGGCCCTGCGCTGCC	0.507																																						uc003frb.2		NA																	0				central_nervous_system(1)	1						c.(415-417)GCC>GCT		ST6 beta-galactosamide							72.0	72.0	72.0					3																	186760908		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760908C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.417C>T	3.37:g.186760908C>T						ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Silent_p.A139A	p.A139A	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	849	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		139			Lumenal (Potential).		A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.417C>T	CCDS3285.1																																																																																				0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		8	52	0	0	0	0	8	52				
OTOP1	133060	broad.mit.edu	37	4	4214642	4214642	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:4214642T>C	ENST00000296358.4	-	2	517	c.493A>G	c.(493-495)Act>Gct	p.T165A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	165					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTCCTTCAGTGGCTGATAAA	0.393																																						uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(493-495)ACT>GCT		otopetrin 1							59.0	56.0	57.0					4																	4214642		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4214642T>C	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.493A>G	4.37:g.4214642T>C	ENSP00000296358:p.Thr165Ala						p.T165A	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	523	-			165					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.493A>G	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300694	0.23650	.	.	ENSG00000163982	ENST00000296358	T	0.21191	2.02	4.71	4.71	0.59529	.	0.257323	0.38548	N	0.001645	T	0.10895	0.0266	N	0.11560	0.145	0.44268	D	0.997121	B	0.33171	0.4	B	0.30251	0.113	T	0.23619	-1.0183	10	0.18276	T	0.48	.	13.4398	0.61106	0.0:0.0:0.0:1.0	.	165	Q7RTM1	OTOP1_HUMAN	A	165	ENSP00000296358:T165A	ENSP00000296358:T165A	T	-	1	0	OTOP1	4265543	1.000000	0.71417	0.474000	0.27266	0.861000	0.49209	2.222000	0.42926	1.886000	0.54624	0.438000	0.28831	ACT		0.393	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		5	61	0	0	0	0	5	61				
GABRA2	2555	broad.mit.edu	37	4	46307679	46307679	+	Silent	SNP	A	A	G			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr4:46307679A>G	ENST00000510861.1	-	7	782	c.609T>C	c.(607-609)tcT>tcC	p.S203S	GABRA2_ENST00000515082.1_Silent_p.S203S|GABRA2_ENST00000507069.1_Silent_p.S203S|GABRA2_ENST00000356504.1_Silent_p.S203S|GABRA2_ENST00000381620.4_Silent_p.S203S|GABRA2_ENST00000514090.1_Silent_p.S203S|GABRA2_ENST00000540012.1_Silent_p.S148S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	203					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTACTGAATCAGATGCATTGT	0.358																																						uc003gxc.3		NA																	0				ovary(2)|skin(2)	4						c.(607-609)TCT>TCC		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						108.0	108.0	108.0					4																	46307679		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46307679A>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.609T>C	4.37:g.46307679A>G						GABRA2_uc010igc.2_Silent_p.S203S|GABRA2_uc011bzc.1_Silent_p.S148S|GABRA2_uc003gxe.2_Silent_p.S203S	p.S203S	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			6	1282	-			203			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.609T>C	CCDS3471.1																																																																																				0.358	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			4	63	0	0	0	0	4	63				
CDC20B	166979	broad.mit.edu	37	5	54420729	54420729	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:54420729C>T	ENST00000381375.2	-	9	1262	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CDC20B_ENST00000296733.1_Missense_Mutation_p.G373S|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	373										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCACTGCAGCCGCTGGAAAGC	0.567																																						uc003jpo.1		NA																	0					0						c.(1117-1119)GGC>AGC		CDC20 cell division cycle 20 homolog B isoform							113.0	100.0	104.0					5																	54420729		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54420729C>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1117G>A	5.37:g.54420729C>T	ENSP00000370781:p.Gly373Ser					CDC20B_uc003jpn.1_Missense_Mutation_p.G373S|CDC20B_uc010ivu.1_Missense_Mutation_p.G373S|CDC20B_uc010ivv.1_3'UTR	p.G373S	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1292	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	373			WD 4.		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1117G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886946	0.91814	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.69806	-0.43;-0.43;-0.43	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.43260	D	0.000589	T	0.80706	0.4674	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83243	-0.0057	10	0.87932	D	0	-27.0194	17.3439	0.87305	0.0:1.0:0.0:0.0	.	373;373;373	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	S	373	ENSP00000296733:G373S;ENSP00000370781:G373S;ENSP00000315720:G373S	ENSP00000296733:G373S	G	-	1	0	CDC20B	54456486	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.443000	0.52907	2.402000	0.81655	0.650000	0.86243	GGC		0.567	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		5	63	0	0	0	0	5	63				
ZNF366	167465	broad.mit.edu	37	5	71739939	71739939	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:71739939C>T	ENST00000318442.5	-	5	2369	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	627	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGCTCCACCTCGTAGCAGTTA	0.667																																						uc003kce.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1879-1881)GAG>AAG		zinc finger protein 366							96.0	110.0	105.0					5																	71739939		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739939C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1879G>A	5.37:g.71739939C>T	ENSP00000313158:p.Glu627Lys						p.E627K	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2065	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	627					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1879G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030953	0.75504	.	.	ENSG00000178175	ENST00000318442	T	0.08984	3.03	5.78	5.78	0.91487	.	0.162606	0.43416	D	0.000572	T	0.06325	0.0163	L	0.32530	0.975	0.41074	D	0.985473	P	0.42161	0.772	B	0.27887	0.084	T	0.18903	-1.0322	10	0.62326	D	0.03	-34.0917	13.5635	0.61804	0.0:0.9289:0.0:0.0711	.	627	Q8N895	ZN366_HUMAN	K	627	ENSP00000313158:E627K	ENSP00000313158:E627K	E	-	1	0	ZNF366	71775695	0.998000	0.40836	0.139000	0.22197	0.229000	0.25112	4.141000	0.58038	2.894000	0.99253	0.655000	0.94253	GAG		0.667	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			9	194	0	0	0	0	9	194				
PCDHA3	56145	broad.mit.edu	37	5	140182956	140182956	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:140182956C>A	ENST00000522353.2	+	1	2174	c.2174C>A	c.(2173-2175)gCg>gAg	p.A725E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A725E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	725					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCCGCGCCGCCAACC	0.637																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(2173-2175)GCG>GAG		protocadherin alpha 3 isoform 1 precursor							75.0	80.0	78.0					5																	140182956		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182956C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2174C>A	5.37:g.140182956C>A	ENSP00000429808:p.Ala725Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A725E	p.A725E	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2174	+			725			Cytoplasmic (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2174C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.159	0.397442	0.11638	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.80393	-1.37;-1.37	4.05	4.05	0.47172	.	0.620672	0.12972	U	0.424065	T	0.81302	0.4794	M	0.87381	2.88	0.09310	N	1	B;B	0.24426	0.103;0.03	B;B	0.27796	0.083;0.04	T	0.70472	-0.4862	10	0.30854	T	0.27	.	8.0422	0.30527	0.0:0.8126:0.0:0.1874	.	725;725	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	725	ENSP00000429808:A725E;ENSP00000434086:A725E	ENSP00000429808:A725E	A	+	2	0	PCDHA3	140163140	0.028000	0.19301	0.124000	0.21820	0.010000	0.07245	0.878000	0.28126	1.972000	0.57404	0.467000	0.42956	GCG		0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		9	129	1	0	0.00829132	0.00877197	9	129				
LAMA4	3910	broad.mit.edu	37	6	112440499	112440499	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr6:112440499C>T	ENST00000230538.7	-	34	5078	c.4681G>A	c.(4681-4683)Gaa>Aaa	p.E1561K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E1554K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1554K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1554K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1561	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.E1554Q(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGCTCCTTTCTCGAATAAAT	0.438																																						uc003pvu.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4681-4683)GAA>AAA		laminin, alpha 4 isoform 1 precursor							92.0	93.0	93.0					6																	112440499		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112440499C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4681G>A	6.37:g.112440499C>T	ENSP00000230538:p.Glu1561Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E1554K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1554K	p.E1561K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	34	4990	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1561			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4681G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019600	0.93462	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.213665	0.49305	D	0.000152	T	0.70518	0.3233	L	0.34521	1.04	0.80722	D	1	D;D	0.57571	0.98;0.976	P;P	0.55713	0.782;0.675	T	0.66480	-0.5913	10	0.09338	T	0.73	.	19.8148	0.96562	0.0:1.0:0.0:0.0	.	1561;1554	Q16363;Q16363-2	LAMA4_HUMAN;.	K	1561;1554;1554;1554	ENSP00000230538:E1561K;ENSP00000429488:E1554K;ENSP00000374114:E1554K;ENSP00000416470:E1554K	ENSP00000230538:E1561K	E	-	1	0	LAMA4	112547192	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	3.886000	0.56190	2.692000	0.91855	0.555000	0.69702	GAA		0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	80	0	0	0	0	6	80				
TTF1	7270	broad.mit.edu	37	9	135277018	135277018	+	Silent	SNP	G	G	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:135277018G>A	ENST00000334270.2	-	2	1230	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	397					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTGCCCTTTTGACAGACGTAA	0.463																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1189-1191)GTC>GTT		transcription termination factor, RNA polymerase							225.0	184.0	198.0					9																	135277018		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277018G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1191C>T	9.37:g.135277018G>A						TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.V397V	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1243	-		Myeloproliferative disorder(178;0.204)	397					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1191C>T	CCDS6948.1																																																																																				0.463	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		6	94	0	0	0	0	6	94				
C11orf48	79081	broad.mit.edu	37	11	62435132	62435134	+	In_Frame_Del	DEL	TCT	TCT	-	rs566996567		TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr11:62435132_62435134delTCT	ENST00000431002.2	-	2	2210_2212	c.477_479delAGA	c.(475-480)gaagat>gat	p.E159del	SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_In_Frame_Del_p.E133del|RP11-831H9.11_ENST00000528405.1_5'Flank|METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000354588.3_In_Frame_Del_p.E133del|C11orf48_ENST00000524958.1_5'Flank|C11orf83_ENST00000531323.1_5'Flank			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	159										endometrium(1)|lung(5)|urinary_tract(1)	7						CCAACAAGCATCTTCTTCATCCT	0.537																																						uc001nue.2		NA																	0					0						c.(397-402)GAAGAT>GAT		hypothetical protein LOC79081				16,4248		8,0,2124						-3.7	0.0			232	60,8192		28,4,4094	no	coding	C11orf48	NM_024099.3		36,4,6218	A1A1,A1R,RR		0.7271,0.3752,0.6072				76,12440				SO:0001651	inframe_deletion	79081							g.chr11:62435132_62435134delTCT	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.477_479delAGA	11.37:g.62435135_62435137delTCT	ENSP00000416856:p.Glu159del					C11orf48_uc001nuf.2_In_Frame_Del_p.E133del|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_In_Frame_Del_p.E133del	p.E133del	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN			4	834_836	-			159					Q96NA4	In_Frame_Del	DEL	ENST00000431002.2	37	c.399_401delAGA																																																																																					0.537	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		26	323	NA	NA	NA	NA	26	323	---	---	---	---
GPX2	2877	broad.mit.edu	37	14	65406461	65406462	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr14:65406461_65406462delCT	ENST00000389614.5	-	2	403_404	c.317_318delAG	c.(316-318)gagfs	p.E106fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	106					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCCCATTCACCTCACATTTTTG	0.525																																						uc010tsn.1		NA																	0				ovary(1)	1						c.(316-318)GAGfs		glutathione peroxidase 2	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406461_65406462delCT		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.317_318delAG	14.37:g.65406461_65406462delCT	ENSP00000374265:p.Glu106fs					CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA	p.E106fs	NM_002083	NP_002074	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	3	404_405	-			106					Q6PJ52|Q8WWI7|Q9NRP9	Frame_Shift_Del	DEL	ENST00000389614.5	37	c.317_318delAG	CCDS41964.1																																																																																				0.525	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			7	80	NA	NA	NA	NA	7	80	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86810224	86810224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr15:86810224delT	ENST00000441037.2	+	12	1712	c.1617delT	c.(1615-1617)cctfs	p.P539fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.P270fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.P539fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	539					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATTGTAGGCCTTTGCAAGACA	0.353																																						uc002blz.1		NA																	0					0						c.(1615-1617)CCTfs		ATP/GTP binding protein-like 1							87.0	78.0	81.0					15																	86810224		1884	4104	5988	SO:0001589	frameshift_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86810224delT	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1617delT	15.37:g.86810224delT	ENSP00000413001:p.Pro539fs					AGBL1_uc002bma.1_Frame_Shift_Del_p.P270fs|AGBL1_uc002bmb.1_Frame_Shift_Del_p.P233fs	p.P539fs	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			12	1697	+			539					A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	ENST00000441037.2	37	c.1617delT	CCDS58398.1																																																																																				0.353	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		2	4	NA	NA	NA	NA	2	4	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171488259	171488260	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr5:171488259_171488260delAC	ENST00000176763.5	-	14	2438_2439	c.2095_2096delGT	c.(2095-2097)gtafs	p.V699fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	699					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCTTGGCTACAAAGTCCCGG	0.584																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2095-2097)GTAfs		serine/threonine kinase 10																																				SO:0001589	frameshift_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488259_171488260delAC	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2095_2096delGT	5.37:g.171488259_171488260delAC	ENSP00000176763:p.Val699fs						p.V699fs	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2395_2396	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	699			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	ENST00000176763.5	37	c.2095_2096delGT	CCDS34290.1																																																																																				0.584	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		11	124	NA	NA	NA	NA	11	124	---	---	---	---
TMEM38B	55151	broad.mit.edu	37	9	108484899	108484900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-4217-01A-11D-2078-08	TCGA-BB-4217-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5916ef19-7838-4621-a869-de8c2b34931c	7a5278a1-1bf9-4dba-ade5-43dd3e0653ab	g.chr9:108484899_108484900insA	ENST00000374692.3	+	4	656_657	c.539_540insA	c.(538-543)tcatacfs	p.Y181fs	TMEM38B_ENST00000374688.1_Frame_Shift_Ins_p.Y127fs	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	181						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGAAGATGTCATAGTAAGTTG	0.342																																						uc004bcu.1		NA																	0				ovary(1)|skin(1)	2						c.(538-540)TCAfs		transmembrane protein 38B																																				SO:0001589	frameshift_variant	55151					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr9:108484899_108484900insA	BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.540dupA	9.37:g.108484900_108484900dupA	ENSP00000363824:p.Tyr181fs					TMEM38B_uc010mtn.1_Intron	p.S180fs	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN			4	656_657	+			180			Lumenal (Potential).		Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Frame_Shift_Ins	INS	ENST00000374692.3	37	c.539_540insA	CCDS6768.1																																																																																				0.342	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112		8	79	NA	NA	NA	NA	8	79	---	---	---	---
