#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	7902814	7902814	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:7902814G>C	ENST00000361923.2	+	21	3780	c.3605G>C	c.(3604-3606)tGa>tCa	p.*1202S	PER3_ENST00000377532.3_Nonstop_Mutation_p.*1211S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	0					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)		GACAGCTGTTGAGTGACTGTG	0.438																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3604-3606)TGA>TCA		period 3							186.0	158.0	168.0					1																	7902814		2203	4300	6503	SO:0001578	stop_lost	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7902814G>C	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.3605G>C	1.37:g.7902814G>C	ENSP00000355031:p.*1202Serext*21					PER3_uc001aop.2_Nonstop_Mutation_p.*1211S|PER3_uc010nzw.1_Nonstop_Mutation_p.*891S	p.*1202S	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)	21	3780	+	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)	1202					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonstop_Mutation	SNP	ENST00000361923.2	37	c.3605G>C	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631936	0.29068	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6022	0.56503	0.0:0.0:1.0:0.0	.	.	.	.	S	1211;1202;395	.	.	X	+	2	2	PER3	7825401	0.119000	0.22226	0.237000	0.24090	0.022000	0.10575	2.070000	0.41491	2.334000	0.79466	0.655000	0.94253	TGA		0.438	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		24	77	0	0	0	0	24	77				
EPHA2	1969	broad.mit.edu	37	1	16462185	16462185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:16462185G>A	ENST00000358432.5	-	6	1547	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	465	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTCCACACTCGGCTCTGCTGC	0.662																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1393-1395)CGA>TGA		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						61.0	59.0	60.0					1																	16462185		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16462185G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1393C>T	1.37:g.16462185G>A	ENSP00000351209:p.Arg465*					EPHA2_uc010oca.1_Nonsense_Mutation_p.R465*	p.R465*	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	6	1530	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	465			Extracellular (Potential).|Fibronectin type-III 2.		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1393C>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	g	40	7.959681	0.98583	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.26	5.26	0.73747	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.3569	0.83237	0.0:0.0:1.0:0.0	.	.	.	.	X	465	.	ENSP00000351209:R465X	R	-	1	2	EPHA2	16334772	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.851000	0.39338	2.466000	0.83321	0.556000	0.70494	CGA		0.662	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		35	36	0	0	0	0	35	36				
KIAA0754	643314	broad.mit.edu	37	1	39879889	39879889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:39879889G>A	ENST00000530275.1	+	1	3739	c.3544G>A	c.(3544-3546)Gtg>Atg	p.V1182M	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1182	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCCCAGAGGTGCCTGCCAT	0.627																																						uc009vvt.1		NA																	0					0						c.(3952-3954)GTG>ATG		hypothetical protein LOC643314							41.0	43.0	42.0					1																	39879889		2052	4202	6254	SO:0001583	missense	643314							g.chr1:39879889G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3544G>A	1.37:g.39879889G>A	ENSP00000431179:p.Val1182Met					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.V1318M	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	4714	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	1182			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.3952G>A		.	.	.	.	.	.	.	.	.	.	G	11.35	1.613745	0.28712	.	.	ENSG00000255103	ENST00000530275	T	0.24350	1.86	4.81	1.78	0.24846	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	P	0.39624	0.681	B	0.41202	0.35	T	0.14035	-1.0487	9	0.46703	T	0.11	.	5.6293	0.17501	0.1778:0.0:0.6596:0.1626	.	1182	O94854	K0754_HUMAN	M	1182	ENSP00000431179:V1182M	ENSP00000431179:V1182M	V	+	1	0	RP4-562N20.1	39652476	0.795000	0.28851	0.012000	0.15200	0.004000	0.04260	1.911000	0.39937	0.156000	0.19299	0.558000	0.71614	GTG		0.627	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	37	0	0	0	0	6	37				
PTPRF	5792	broad.mit.edu	37	1	44069439	44069439	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:44069439G>A	ENST00000359947.4	+	16	2956	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	PTPRF_ENST00000372413.3_Silent_p.K863K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.K872K|PTPRF_ENST00000438120.1_Silent_p.K863K|PTPRF_ENST00000422171.2_Silent_p.K220K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	872	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTCGGCAAGGATGACCAGC	0.632																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2614-2616)AAG>AAA		protein tyrosine phosphatase, receptor type, F							63.0	68.0	66.0					1																	44069439		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069439G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2616G>A	1.37:g.44069439G>A						PTPRF_uc001cjs.2_Silent_p.K863K|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.K432K|PTPRF_uc001cjv.2_Silent_p.K332K|PTPRF_uc001cjw.2_Silent_p.K98K	p.K872K	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	2956	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	872			Extracellular (Potential).|Fibronectin type-III 6.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2616G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.325|8.325	0.825206|0.825206	0.16749|0.16749	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.03|5.03	2.14|2.14	0.27477|0.27477	.|.	.|.	.|.	.|.	.|.	T|T	0.59321|0.59321	0.2185|0.2185	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52779|0.52779	-0.8530|-0.8530	4|4	.|.	.|.	.|.	.|.	10.5098|10.5098	0.44855|0.44855	0.2043:0.0:0.7957:0.0|0.2043:0.0:0.7957:0.0	.|.	.|.	.|.	.|.	R|K	286|518	.|.	.|.	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43842026|43842026	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	0.508000|0.508000	0.22692|0.22692	0.258000|0.258000	0.21686|0.21686	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			18	89	0	0	0	0	18	89				
TAL1	6886	broad.mit.edu	37	1	47691450	47691450	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:47691450G>A	ENST00000294339.3	-	2	687	c.111C>T	c.(109-111)gtC>gtT	p.V37V	TAL1_ENST00000371883.3_Silent_p.V37V|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371884.2_Silent_p.V37V|TAL1_ENST00000459729.1_5'Flank	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	37					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTCCTTGGCGACGCCGTTCA	0.796			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(109-111)GTC>GTT		T-cell acute lymphocytic leukemia 1							10.0	11.0	11.0					1																	47691450		1245	2627	3872	SO:0001819	synonymous_variant	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47691450G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.111C>T	1.37:g.47691450G>A						TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Silent_p.V37V|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	p.V37V	NM_003189	NP_003180	P17542	TAL1_HUMAN			2	688	-			37					D3DQ24	Silent	SNP	ENST00000294339.3	37	c.111C>T	CCDS547.1																																																																																				0.796	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		11	27	0	0	0	0	11	27				
SGIP1	84251	broad.mit.edu	37	1	67105475	67105475	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:67105475G>A	ENST00000371037.4	+	5	264	c.187G>A	c.(187-189)Gca>Aca	p.A63T	SGIP1_ENST00000371036.3_Missense_Mutation_p.A38T|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.A67T|SGIP1_ENST00000371039.1_Missense_Mutation_p.A39T|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	63					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGCAATGGGGCACCAAATGG	0.289																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(187-189)GCA>ACA		SH3-domain GRB2-like (endophilin) interacting							82.0	83.0	83.0					1																	67105475		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67105475G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.187G>A	1.37:g.67105475G>A	ENSP00000360076:p.Ala63Thr						p.A63T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			5	404	+			63					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.187G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604252	0.87157	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.34	5.34	0.76211	.	0.055191	0.64402	D	0.000001	T	0.03011	0.0089	L	0.58101	1.795	0.39380	D	0.966231	B	0.32781	0.384	B	0.26517	0.07	T	0.38585	-0.9654	10	0.56958	D	0.05	-19.4806	19.0366	0.92982	0.0:0.0:1.0:0.0	.	63	Q9BQI5	SGIP1_HUMAN	T	67;39;63;66;66;38;63	ENSP00000237247:A67T;ENSP00000360078:A39T;ENSP00000410439:A63T;ENSP00000360075:A38T;ENSP00000360076:A63T	ENSP00000237247:A67T	A	+	1	0	SGIP1	66878063	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	5.883000	0.69721	2.487000	0.83934	0.655000	0.94253	GCA		0.289	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		14	53	0	0	0	0	14	53				
PSRC1	84722	broad.mit.edu	37	1	109824422	109824422	+	Missense_Mutation	SNP	C	C	T	rs114022452	byFrequency	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:109824422C>T	ENST00000438534.2	-	4	476	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	PSRC1_ENST00000369904.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113Q|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113Q	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGTCTCCCGCCGAGGACTGGG	0.672													C|||	4	0.000798722	0.0023	0.0	5008	,	,		18044	0.0		0.001	False		,,,				2504	0.0					uc001dxg.2		NA																	0					0						c.(337-339)CGG>CAG		proline/serine-rich coiled-coil 1 isoform c		C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	42.0	46.0	44.0		338,338,338	5.7	1.0	1	dbSNP_132	44	0,8600		0,0,4300	yes	missense,missense,missense	PSRC1	NM_001005290.3,NM_001032291.2,NM_032636.7	43,43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	113/311,113/334,113/334	109824422	5,13001	2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824422C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.338G>A	1.37:g.109824422C>T	ENSP00000413591:p.Arg113Gln					PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxd.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxe.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxf.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxh.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxi.2_Missense_Mutation_p.R113Q|PSRC1_uc001dxj.2_Missense_Mutation_p.R113Q	p.R113Q	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	460	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	113			4 X 4 AA repeats of P-X-X-P.		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.338G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.533865	0.96460	0.001135	0.0	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.61510	0.11;0.11;0.1;0.11;0.11	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000049	T	0.63390	0.2507	L	0.50333	1.59	0.41821	D	0.990021	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.58994	-0.7537	10	0.32370	T	0.25	-2.2947	15.4181	0.74987	0.0:1.0:0.0:0.0	.	113;113;113	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	Q	113	ENSP00000386323:R113Q;ENSP00000358923:R113Q;ENSP00000413591:R113Q;ENSP00000358925:R113Q;ENSP00000358919:R113Q	ENSP00000358919:R113Q	R	-	2	0	PSRC1	109625945	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	3.180000	0.50895	2.716000	0.92895	0.561000	0.74099	CGG		0.672	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3	NM_032636		32	53	0	0	0	0	32	53				
NTRK1	4914	broad.mit.edu	37	1	156845368	156845368	+	Silent	SNP	T	T	C	rs369642315		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:156845368T>C	ENST00000524377.1	+	12	1452	c.1411T>C	c.(1411-1413)Ttg>Ctg	p.L471L	NTRK1_ENST00000368196.3_Silent_p.L465L|NTRK1_ENST00000358660.3_Silent_p.L465L|NTRK1_ENST00000392302.2_Silent_p.L435L	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	471	Interaction with SQSTM1. {ECO:0000250}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TTTCATGACATTGGGTGGCAG	0.607			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1411-1413)TTG>CTG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)	T	,,	0,4406		0,0,2203	87.0	79.0	82.0		1303,1393,1411	-3.5	0.7	1		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,	435/761,465/791,471/797	156845368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845368T>C	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1411T>C	1.37:g.156845368T>C		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.L435L|NTRK1_uc009wsi.1_Silent_p.L170L|NTRK1_uc001fqi.1_Silent_p.L465L|NTRK1_uc009wsk.1_Silent_p.L465L	p.L471L	NM_002529	NP_002520	P04629	NTRK1_HUMAN			12	1467	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		471			Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.1411T>C	CCDS1161.1																																																																																				0.607	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		15	78	0	0	0	0	15	78				
HHIPL2	79802	broad.mit.edu	37	1	222696022	222696022	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222696022C>T	ENST00000343410.6	-	9	2154	c.2096G>A	c.(2095-2097)aGg>aAg	p.R699K	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	699					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTCTTCCTCCTCTTGCCCTG	0.567																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(2095-2097)AGG>AAG		HHIP-like 2 precursor							197.0	212.0	207.0					1																	222696022		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222696022C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.2096G>A	1.37:g.222696022C>T	ENSP00000342118:p.Arg699Lys						p.R699K	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	9	2154	-			699					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.2096G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	3.585	-0.084780	0.07097	.	.	ENSG00000143512	ENST00000343410	T	0.13196	2.61	5.36	3.41	0.39046	.	0.329004	0.28940	N	0.013656	T	0.12817	0.0311	M	0.63428	1.95	0.25480	N	0.987747	B	0.10296	0.003	B	0.08055	0.003	T	0.34153	-0.9840	10	0.15499	T	0.54	-22.1659	7.6059	0.28101	0.0:0.797:0.0:0.203	.	699	Q6UWX4	HIPL2_HUMAN	K	699	ENSP00000342118:R699K	ENSP00000342118:R699K	R	-	2	0	HHIPL2	220762645	0.679000	0.27596	0.270000	0.24601	0.003000	0.03518	0.876000	0.28092	0.560000	0.29169	-0.345000	0.07892	AGG		0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		103	269	0	0	0	0	103	269				
HHIPL2	79802	broad.mit.edu	37	1	222721186	222721186	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567																																						uc001hnh.1		NA																	0				ovary(1)	1						c.(199-201)TTC>TTT		HHIP-like 2 precursor							40.0	42.0	41.0					1																	222721186		1925	4127	6052	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721186G>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.201C>T	1.37:g.222721186G>A							p.F67F	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	259	-			67					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.201C>T	CCDS1530.2																																																																																				0.567	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		23	40	0	0	0	0	23	40				
OR2M4	26245	broad.mit.edu	37	1	248402849	248402849	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:248402849C>T	ENST00000306687.1	+	1	619	c.619C>T	c.(619-621)Cta>Tta	p.L207L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	207					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGGTAATGCTAATCTTTCC	0.433																																						uc010pzh.1		NA																	0				breast(2)	2						c.(619-621)CTA>TTA		olfactory receptor, family 2, subfamily M,							125.0	120.0	122.0					1																	248402849		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402849C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.619C>T	1.37:g.248402849C>T							p.L207L	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	619	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		207			Helical; Name=5; (Potential).		Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.619C>T	CCDS31108.1																																																																																				0.433	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		12	78	0	0	0	0	12	78				
PTCHD3	374308	broad.mit.edu	37	10	27702779	27702779	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:27702779A>C	ENST00000438700.3	-	1	518	c.401T>G	c.(400-402)gTg>gGg	p.V134G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	134					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTGCGCGCCCACCTGCCACCC	0.672																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(400-402)GTG>GGG		patched domain containing 3																																				SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702779A>C	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.401T>G	10.37:g.27702779A>C	ENSP00000417658:p.Val134Gly						p.V134G	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	519	-			134					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.401T>G	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546483	0.65198	.	.	ENSG00000182077	ENST00000438700	D	0.92149	-2.98	4.01	4.01	0.46588	.	0.290715	0.32868	N	0.005553	D	0.93119	0.7809	M	0.64997	1.995	0.58432	D	0.999999	D	0.55172	0.97	P	0.55161	0.77	D	0.93492	0.6836	10	0.87932	D	0	-21.3536	11.6493	0.51279	1.0:0.0:0.0:0.0	.	134	Q3KNS1	PTHD3_HUMAN	G	134	ENSP00000417658:V134G	ENSP00000417658:V134G	V	-	2	0	PTCHD3	27742785	0.989000	0.36119	0.719000	0.30619	0.664000	0.39144	4.255000	0.58804	1.681000	0.50988	0.454000	0.30748	GTG		0.672	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		5	32	0	0	0	0	5	32				
CCAR1	55749	broad.mit.edu	37	10	70525798	70525798	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:70525798G>C	ENST00000265872.6	+	17	2379	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H	CCAR1_ENST00000543719.1_Missense_Mutation_p.D739H|CCAR1_ENST00000535016.1_Missense_Mutation_p.D739H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	754	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGTCCTATTGGACTACAGATT	0.338																																						uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(2260-2262)GAC>CAC		cell-cycle and apoptosis regulatory protein 1							106.0	99.0	102.0					10																	70525798		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70525798G>C	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2260G>C	10.37:g.70525798G>C	ENSP00000265872:p.Asp754His					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.D559H|CCAR1_uc009xpx.1_Missense_Mutation_p.D728H|CCAR1_uc001jon.1_Missense_Mutation_p.D700H|CCAR1_uc010qiz.1_Missense_Mutation_p.D739H|CCAR1_uc010qja.1_Missense_Mutation_p.D739H|CCAR1_uc010qjb.1_RNA	p.D754H	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			17	2379	+			754			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.2260G>C	CCDS7282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.64|18.64	3.667406|3.667406	0.67814|0.67814	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	T;T;T;T;T;T|.	0.18810|.	2.19;2.19;2.19;2.19;2.19;2.19|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79040|0.79040	0.4379|0.4379	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.85130|.	0.996;0.995;0.997|.	T|T	0.79642|0.79642	-0.1718|-0.1718	10|5	0.87932|.	D|.	0|.	-13.9034|-13.9034	19.1684|19.1684	0.93567|0.93567	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;754;728|.	Q8IX12-2;Q8IX12;F5H2E6|.	.;CCAR1_HUMAN;.|.	H|A	754;739;739;739;728;559|123	ENSP00000265872:D754H;ENSP00000441820:D739H;ENSP00000445254:D739H;ENSP00000439252:D739H;ENSP00000438610:D728H;ENSP00000439642:D559H|.	ENSP00000265872:D754H|.	D|G	+|+	1|2	0|0	CCAR1|CCAR1	70195804|70195804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.858000|0.858000	0.48976|0.48976	9.668000|9.668000	0.98619|0.98619	2.513000|2.513000	0.84729|0.84729	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.338	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		19	53	0	0	0	0	19	53				
HELLS	3070	broad.mit.edu	37	10	96336456	96336456	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:96336456G>A	ENST00000348459.5	+	10	1031	c.926G>A	c.(925-927)cGt>cAt	p.R309H	HELLS_ENST00000394045.1_Missense_Mutation_p.R309H|HELLS_ENST00000371332.4_Missense_Mutation_p.R309H|HELLS_ENST00000394044.1_Missense_Mutation_p.R309H|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CAGGAGGAACGTCAAAAATTG	0.333																																						uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(925-927)CGT>CAT		helicase, lymphoid-specific							84.0	81.0	82.0					10																	96336456		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96336456G>A	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.926G>A	10.37:g.96336456G>A	ENSP00000239027:p.Arg309His					HELLS_uc001kjs.2_Missense_Mutation_p.R293H|HELLS_uc009xul.2_Missense_Mutation_p.R309H|HELLS_uc009xum.2_Missense_Mutation_p.R309H|HELLS_uc009xun.2_Missense_Mutation_p.R185H|HELLS_uc009xuo.2_Missense_Mutation_p.R309H|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R171H|HELLS_uc009xur.2_RNA	p.R309H	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	10	1031	+		Colorectal(252;0.0429)	309			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000348459.5	37	c.926G>A	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087285	0.94100	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	4.91	4.91	0.64330	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.93462	3.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;1.0;1.0	D;D;P;D;D	0.97110	0.999;0.999;0.731;0.999;1.0	D	0.99346	1.0913	10	0.87932	D	0	-6.6512	17.0685	0.86567	0.0:0.0:1.0:0.0	.	293;309;309;309;309	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	H	309	ENSP00000239027:R309H;ENSP00000377609:R309H;ENSP00000377608:R309H;ENSP00000360383:R309H	ENSP00000239027:R309H	R	+	2	0	HELLS	96326446	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.310000	0.96267	2.258000	0.74832	0.655000	0.94253	CGT		0.333	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		5	38	0	0	0	0	5	38				
SORCS3	22986	broad.mit.edu	37	10	106907398	106907398	+	Silent	SNP	C	C	T	rs147429425	byFrequency	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:106907398C>T	ENST00000369701.3	+	9	1553	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	442					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGTACAGACGAGAACCAAG	0.473													c|||	3	0.000599042	0.0008	0.0	5008	,	,		21655	0.002		0.0	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1324-1326)GAC>GAT		VPS10 domain receptor protein SORCS 3 precursor							190.0	154.0	166.0					10																	106907398		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907398C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1326C>T	10.37:g.106907398C>T							p.D442D	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1553	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	442			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.1326C>T	CCDS7558.1																																																																																				0.473	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		19	58	0	0	0	0	19	58				
VAX1	11023	broad.mit.edu	37	10	118896029	118896029	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:118896029C>T	ENST00000369206.5	-	2	382	c.383G>A	c.(382-384)cGc>cAc	p.R128H	VAX1_ENST00000277905.2_Missense_Mutation_p.R128H	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667																																						uc009xyx.2		NA																	0				ovary(2)	2						c.(382-384)CGC>CAC		ventral anterior homeobox 1 isoform a							38.0	38.0	38.0					10																	118896029		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896029C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.383G>A	10.37:g.118896029C>T	ENSP00000358207:p.Arg128His					VAX1_uc001ldb.1_Missense_Mutation_p.R128H	p.R128H	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	628	-			128			Homeobox.		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.383G>A	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298231	0.60195	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96168	-3.93;-3.93	3.88	2.93	0.34026	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	N	0.05441	-0.05	0.49213	D	0.999769	D;D	0.76494	0.999;0.998	D;D	0.64595	0.927;0.917	D	0.93471	0.6819	10	0.59425	D	0.04	-3.8859	13.0556	0.58977	0.0:0.8368:0.1632:0.0	.	128;128	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	H	128	ENSP00000277905:R128H;ENSP00000358207:R128H	ENSP00000277905:R128H	R	-	2	0	VAX1	118886019	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	5.572000	0.67411	0.786000	0.33708	0.455000	0.32223	CGC		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		15	40	0	0	0	0	15	40				
CTBP2	1488	broad.mit.edu	37	10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:126678151T>C	ENST00000337195.5	-	11	1673	c.1274A>G	c.(1273-1275)cAa>cGa	p.Q425R	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000309035.6_Missense_Mutation_p.Q965R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567																																						uc009yak.2		NA																	0					0						c.(1273-1275)CAA>CGA		C-terminal binding protein 2 isoform 1							70.0	71.0	71.0					10																	126678151		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126678151T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1274A>G	10.37:g.126678151T>C	ENSP00000338615:p.Gln425Arg					CTBP2_uc009yal.2_Missense_Mutation_p.Q425R|CTBP2_uc001lif.3_Missense_Mutation_p.Q425R|CTBP2_uc001lih.3_Missense_Mutation_p.Q425R|CTBP2_uc001lid.3_Missense_Mutation_p.Q493R|CTBP2_uc001lie.3_Missense_Mutation_p.Q965R	p.Q425R	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	11	1561	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	425					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1274A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	3.268	-0.149624	0.06585	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83250	-1.61;-1.7;-1.69;-1.61;-1.61;-1.61	5.12	5.12	0.69794	.	0.057401	0.64402	D	0.000001	T	0.72366	0.3451	N	0.14661	0.345	0.43246	D	0.99516	B;B;B	0.31790	0.0;0.34;0.001	B;B;B	0.32928	0.002;0.155;0.003	T	0.74551	-0.3628	10	0.56958	D	0.05	.	15.0938	0.72217	0.0:0.0:0.0:1.0	.	425;965;493	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	R	425;965;493;425;425;425	ENSP00000338615:Q425R;ENSP00000311825:Q965R;ENSP00000357816:Q493R;ENSP00000434630:Q425R;ENSP00000436285:Q425R;ENSP00000410474:Q425R	ENSP00000311825:Q965R	Q	-	2	0	CTBP2	126668141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	2.153000	0.67306	0.528000	0.53228	CAA		0.567	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	116	0	0	0	0	4	116				
GPR162	27239	broad.mit.edu	37	12	6935885	6935885	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:6935885C>T	ENST00000311268.3	+	5	2070	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	LEPREL2_ENST00000396725.2_RNA|GPR162_ENST00000382315.3_Missense_Mutation_p.S124F|LEPREL2_ENST00000606935.1_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.S144F|LEPREL2_ENST00000251761.8_RNA	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAACCAGGCTCCTTCCTGCAC	0.612																																						uc001qqw.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1282-1284)TCC>TTC		G protein-coupled receptor 162 isoform 2							94.0	105.0	101.0					12																	6935885		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6935885C>T	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1283C>T	12.37:g.6935885C>T	ENSP00000311528:p.Ser428Phe					LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.S144F|GPR162_uc009zfd.1_Missense_Mutation_p.S124F|GPR162_uc001qqy.1_Intron	p.S428F	NM_019858	NP_062832	Q16538	GP162_HUMAN			5	1818	+			428			Cytoplasmic (Potential).		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.1283C>T	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219610	0.79464	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.55234	2.63;0.54;0.53	5.1	5.1	0.69264	.	.	.	.	.	T	0.52996	0.1769	L	0.43152	1.355	0.42496	D	0.992915	P;B	0.35656	0.514;0.435	P;B	0.44518	0.452;0.221	T	0.57329	-0.7830	9	0.72032	D	0.01	.	12.0738	0.53632	0.0:0.9216:0.0:0.0784	.	144;428	Q16538-2;Q16538	.;GP162_HUMAN	F	428;144;124	ENSP00000311528:S428F;ENSP00000399670:S144F;ENSP00000371752:S124F	ENSP00000311528:S428F	S	+	2	0	GPR162	6806146	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.788000	0.69020	2.652000	0.90054	0.561000	0.74099	TCC		0.612	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		86	143	0	0	0	0	86	143				
ASIC1	41	broad.mit.edu	37	12	50475373	50475373	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:50475373G>A	ENST00000447966.2	+	12	1757	c.1528G>A	c.(1528-1530)Gct>Act	p.A510T	ASIC1_ENST00000228468.4_Missense_Mutation_p.A556T|ASIC1_ENST00000552438.1_Missense_Mutation_p.A544T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	510					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GATGACATACGCTGCCAACAT	0.642																																						uc001rvw.2		NA																	0				ovary(1)	1						c.(1528-1530)GCT>ACT		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						72.0	58.0	63.0					12																	50475373		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50475373G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1528G>A	12.37:g.50475373G>A	ENSP00000400228:p.Ala510Thr					ACCN2_uc001rvv.2_Missense_Mutation_p.A556T|ACCN2_uc009zln.2_Missense_Mutation_p.A301T|ACCN2_uc009zlo.2_Missense_Mutation_p.A510T	p.A510T	NM_001095	NP_001086	P78348	ACCN2_HUMAN			12	1757	+			510			Cytoplasmic (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.1528G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	2.904	-0.226911	0.06022	.	.	ENSG00000110881	ENST00000228468;ENST00000447966;ENST00000552438	T;T;T	0.62498	0.25;0.05;0.02	4.5	3.59	0.41128	.	0.301353	0.25447	N	0.030618	T	0.26702	0.0653	N	0.01464	-0.85	0.39528	D	0.968629	B;B	0.18461	0.001;0.028	B;B	0.14578	0.002;0.011	T	0.28808	-1.0032	10	0.02654	T	1	-8.1809	8.3656	0.32385	0.0832:0.1575:0.7593:0.0	.	510;556	P78348;P78348-1	ACCN2_HUMAN;.	T	556;510;544	ENSP00000228468:A556T;ENSP00000400228:A510T;ENSP00000450247:A544T	ENSP00000228468:A556T	A	+	1	0	ACCN2	48761640	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.960000	0.49161	1.000000	0.39049	0.462000	0.41574	GCT		0.642	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		5	48	0	0	0	0	5	48				
BEST3	144453	broad.mit.edu	37	12	70049468	70049468	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:70049468C>G	ENST00000330891.5	-	10	1452	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	BEST3_ENST00000553096.1_Missense_Mutation_p.R303T|BEST3_ENST00000488961.1_Missense_Mutation_p.R196T|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	409					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTTCTTCTTCTGGGGCTGGA	0.552																																						uc001svg.2		NA																	0					0						c.(1225-1227)AGA>ACA		vitelliform macular dystrophy 2-like 3 isoform							109.0	117.0	114.0					12																	70049468		2078	4212	6290	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049468C>G	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1226G>C	12.37:g.70049468C>G	ENSP00000332413:p.Arg409Thr					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.R196T|BEST3_uc010stm.1_Missense_Mutation_p.R303T	p.R409T	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1453	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		409			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1226G>C	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451091	0.04572	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97850	-4.21;-4.57;-4.52	5.26	-1.96	0.07525	.	1.029110	0.07735	N	0.945922	D	0.92811	0.7714	L	0.41236	1.265	0.09310	N	0.999999	B;B	0.12013	0.001;0.005	B;B	0.06405	0.001;0.002	T	0.82912	-0.0222	10	0.18276	T	0.48	-2.7954	0.4784	0.00544	0.1874:0.25:0.2275:0.3351	.	409;196	Q8N1M1;B5MDI8	BEST3_HUMAN;.	T	196;409;303	ENSP00000433213:R196T;ENSP00000332413:R409T;ENSP00000449548:R303T	ENSP00000332413:R409T	R	-	2	0	BEST3	68335735	0.000000	0.05858	0.211000	0.23655	0.004000	0.04260	-0.386000	0.07370	-0.021000	0.14009	-0.140000	0.14226	AGA		0.552	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		65	102	0	0	0	0	65	102				
ATXN2	6311	broad.mit.edu	37	12	111895024	111895024	+	Silent	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:111895024A>G	ENST00000377617.3	-	22	3671	c.3510T>C	c.(3508-3510)ccT>ccC	p.P1170P	ATXN2_ENST00000389153.4_Silent_p.P907P|ATXN2_ENST00000535949.1_Silent_p.P863P|ATXN2_ENST00000608853.1_Silent_p.P1010P|ATXN2_ENST00000542287.2_Silent_p.P905P|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1170					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCTGAACAGGACTGGGTG	0.537																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(3508-3510)CCT>CCC		ataxin 2							194.0	138.0	157.0					12																	111895024		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895024A>G	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3510T>C	12.37:g.111895024A>G						ATXN2_uc001tsh.2_Silent_p.P905P|ATXN2_uc001tsi.2_Silent_p.P863P|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.P358P|ATXN2_uc001tsl.1_Silent_p.P171P	p.P1170P	NM_002973	NP_002964	Q99700	ATX2_HUMAN			22	3672	-			1170					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3510T>C	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667356	0.29604	.	.	ENSG00000204842	ENST00000550889	.	.	.	6.06	-0.283	0.12874	.	.	.	.	.	T	0.42585	0.1209	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	-10.8433	2.4942	0.04617	0.4286:0.1223:0.3307:0.1183	.	.	.	.	P	55	.	.	L	-	2	0	ATXN2	110379407	0.961000	0.32948	0.998000	0.56505	0.950000	0.60333	0.098000	0.15189	-0.054000	0.13266	0.528000	0.53228	CTG		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		3	40	0	0	0	0	3	40				
OASL	8638	broad.mit.edu	37	12	121465598	121465598	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:121465598C>T	ENST00000257570.5	-	4	950	c.680G>A	c.(679-681)aGa>aAa	p.R227K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	227					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGATTGGCTCTGGGGGACCT	0.488																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1		NA																	0				skin(1)	1						c.(679-681)AGA>AAA		2'-5'-oligoadenylate synthetase-like isoform a							46.0	43.0	44.0					12																	121465598		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121465598C>T	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.680G>A	12.37:g.121465598C>T	ENSP00000257570:p.Arg227Lys					OASL_uc001tzk.1_Intron	p.R227K	NM_003733	NP_003724	Q15646	OASL_HUMAN			4	686	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		227					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.680G>A	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	1.175	-0.639691	0.03557	.	.	ENSG00000135114	ENST00000257570	T	0.42513	0.97	5.48	0.102	0.14522	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.749194	0.12508	N	0.462670	T	0.18676	0.0448	N	0.11255	0.115	0.09310	N	0.999995	B	0.30068	0.267	B	0.28991	0.097	T	0.27806	-1.0063	10	0.10377	T	0.69	-19.4229	7.4653	0.27318	0.0:0.491:0.0:0.509	.	227	Q15646	OASL_HUMAN	K	227	ENSP00000257570:R227K	ENSP00000257570:R227K	R	-	2	0	OASL	119949981	0.004000	0.15560	0.191000	0.23289	0.045000	0.14185	-0.429000	0.06982	0.111000	0.17947	-0.140000	0.14226	AGA		0.488	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		25	39	0	0	0	0	25	39				
DCT	1638	broad.mit.edu	37	13	95112446	95112446	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr13:95112446T>C	ENST00000377028.5	-	6	1491	c.1078A>G	c.(1078-1080)Act>Gct	p.T360A	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.T360A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	360					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAATCCAGAGTCCCATCTGCT	0.408																																						uc001vlv.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1078-1080)ACT>GCT		dopachrome tautomerase isoform 1							86.0	81.0	83.0					13																	95112446		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95112446T>C	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1078A>G	13.37:g.95112446T>C	ENSP00000366227:p.Thr360Ala					DCT_uc010afh.2_Missense_Mutation_p.T360A	p.T360A	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	6	1505	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	360			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.1078A>G	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	T	5.507	0.278429	0.10403	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98777	-5.13;-5.13	5.52	5.52	0.82312	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.204979	0.52532	D	0.000072	D	0.95290	0.8472	N	0.25647	0.755	0.25942	N	0.982867	B;B	0.11235	0.004;0.004	B;B	0.22601	0.04;0.021	D	0.85672	0.1295	10	0.09338	T	0.73	-3.1489	10.3557	0.43962	0.0:0.0827:0.0:0.9173	.	360;360	Q09GT4;P40126	.;TYRP2_HUMAN	A	360	ENSP00000366227:T360A;ENSP00000392762:T360A	ENSP00000366227:T360A	T	-	1	0	DCT	93910447	1.000000	0.71417	0.622000	0.29159	0.668000	0.39293	3.322000	0.52007	2.117000	0.64856	0.533000	0.62120	ACT		0.408	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			8	26	0	0	0	0	8	26				
NPAS3	64067	broad.mit.edu	37	14	34269100	34269100	+	Silent	SNP	C	C	T	rs148867285		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:34269100C>T	ENST00000356141.4	+	12	1587	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	NPAS3_ENST00000346562.2_Silent_p.D497D|NPAS3_ENST00000548645.1_Silent_p.D499D|NPAS3_ENST00000551492.1_Silent_p.D534D|NPAS3_ENST00000357798.5_Silent_p.D516D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	529					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGACAGCGACGACAGCTTCG	0.637																																						uc001wru.2		NA																	0				ovary(1)|skin(1)	2						c.(1585-1587)GAC>GAT		neuronal PAS domain protein 3 isoform 3							56.0	59.0	58.0					14																	34269100		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269100C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1587C>T	14.37:g.34269100C>T						NPAS3_uc001wrs.2_Silent_p.D516D|NPAS3_uc001wrt.2_Silent_p.D497D|NPAS3_uc001wrv.2_Silent_p.D499D	p.D529D	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	12	1651	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		529					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1587C>T	CCDS53891.1																																																																																				0.637	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			27	43	0	0	0	0	27	43				
PAPLN	89932	broad.mit.edu	37	14	73721248	73721248	+	Missense_Mutation	SNP	C	C	T	rs143213374	byFrequency	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:73721248C>T	ENST00000554301.1	+	12	1493	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	PAPLN_ENST00000555445.1_Missense_Mutation_p.R444W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R444W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R417W|PAPLN_ENST00000427855.1_Missense_Mutation_p.R444W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	444	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTTGGCGTCCGGAAGCGGAG	0.622																																						uc010ttx.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1330-1332)CGG>TGG		papilin		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	197.0	189.0	192.0		1249	2.7	0.1	14	dbSNP_134	192	3,8597	3.0+/-9.4	0,3,4297	no	missense	PAPLN	NM_173462.3	101	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	417/1252	73721248	4,13002	2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73721248C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1330C>T	14.37:g.73721248C>T	ENSP00000451803:p.Arg444Trp					PAPLN_uc001xnw.3_Missense_Mutation_p.R417W|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R444W	p.R444W	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	12	1493	+			444			TSP type-1 4.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1330C>T		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635594	0.67130	2.27E-4	3.49E-4	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34	4.61	2.67	0.31697	.	.	.	.	.	T	0.77164	0.4090	M	0.93939	3.475	0.31693	N	0.641702	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.967;0.98;0.951	T	0.80665	-0.1281	9	0.72032	D	0.01	.	11.7253	0.51706	0.2927:0.7073:0.0:0.0	.	444;444;417	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	W	417;444;444;444;444	ENSP00000345395:R417W;ENSP00000403403:R444W;ENSP00000370558:R444W;ENSP00000451803:R444W;ENSP00000451729:R444W	ENSP00000216658:R444W	R	+	1	2	PAPLN	72791001	0.998000	0.40836	0.099000	0.21106	0.058000	0.15608	3.583000	0.53928	0.473000	0.27368	0.655000	0.94253	CGG		0.622	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		58	211	0	0	0	0	58	211				
TRAF3	7187	broad.mit.edu	37	14	103357700	103357700	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:103357700C>T	ENST00000560371.1	+	8	982	c.765C>T	c.(763-765)tcC>tcT	p.S255S	TRAF3_ENST00000392745.2_Silent_p.S255S|TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000347662.4_Silent_p.S230S|TRAF3_ENST00000351691.5_Silent_p.S230S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	255					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGGCCAGCTCCGCCGTGCAGC	0.557																																						uc001ymc.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(763-765)TCC>TCT		TNF receptor-associated factor 3 isoform 1							62.0	50.0	54.0					14																	103357700		2200	4300	6500	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103357700C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.765C>T	14.37:g.103357700C>T						TRAF3_uc001yme.1_Silent_p.S230S|TRAF3_uc001ymd.1_Silent_p.S255S|TRAF3_uc010txy.1_Intron	p.S255S	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	9	1118	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	255					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.765C>T	CCDS9975.1																																																																																				0.557	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		7	35	0	0	0	0	7	35				
ATP2A3	489	broad.mit.edu	37	17	3851149	3851149	+	Splice_Site	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:3851149C>T	ENST00000352011.3	-	8	685	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	ATP2A3_ENST00000359983.3_Splice_Site_p.G211S|ATP2A3_ENST00000397035.3_Splice_Site_p.G211S|ATP2A3_ENST00000397041.3_Splice_Site_p.G211S|ATP2A3_ENST00000397043.3_Splice_Site_p.G211S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000309890.7_Splice_Site_p.G211S			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	211					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATATTGGTGCCCTGGCCAGGG	0.637																																					GBM(32;29 774 15719 37967)	uc002fxb.1		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)	5						c.(631-633)GGC>AGC		ATPase, Ca++ transporting, ubiquitous isoform b							16.0	18.0	18.0					17																	3851149		2138	4217	6355	SO:0001630	splice_region_variant	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3851149C>T		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.631-1G>A	17.37:g.3851149C>T						ATP2A3_uc002fwx.1_Missense_Mutation_p.G211S|ATP2A3_uc002fwy.1_Missense_Mutation_p.G211S|ATP2A3_uc002fwz.1_Missense_Mutation_p.G211S|ATP2A3_uc002fxa.1_Missense_Mutation_p.G211S|ATP2A3_uc002fxc.1_Missense_Mutation_p.G211S|ATP2A3_uc002fxd.1_Missense_Mutation_p.G211S	p.G211S	NM_174955	NP_777615	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	8	782	-			211			Cytoplasmic (By similarity).		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.631G>A	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087930	0.76642	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	3.4	3.4	0.38934	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.998;0.997;0.997;0.997	D;D;D;D;D;D	0.97110	1.0;0.976;0.967;0.976;0.976;0.976	D	0.95626	0.8685	10	0.72032	D	0.01	.	15.035	0.71738	0.0:1.0:0.0:0.0	.	211;211;211;211;211;211	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	S	211	ENSP00000380236:G211S;ENSP00000301387:G211S;ENSP00000353072:G211S;ENSP00000380234:G211S;ENSP00000312577:G211S;ENSP00000380229:G211S	ENSP00000312577:G211S	G	-	1	0	ATP2A3	3797898	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.647000	0.83462	2.191000	0.70037	0.491000	0.48974	GGC		0.637	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	Missense_Mutation	6	36	0	0	0	0	6	36				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578271T>A	ENST00000269305.4	-	6	767	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000420246.2_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L	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	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(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	CM083194|CM951225	TP53	M		c.(577-579)CAT>CTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578271		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.chr17:7578271T>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.578A>T	17.37:g.7578271T>A	ENSP00000269305:p.His193Leu	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.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	p.H193L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	772	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).	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.578A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752987	0.49362	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97204	0.9866	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193L;ENSP00000352610:H193L;ENSP00000269305:H193L;ENSP00000398846:H193L;ENSP00000391127:H193L;ENSP00000391478:H193L;ENSP00000425104:H61L;ENSP00000423862:H100L	ENSP00000269305:H193L	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	29	0	0	0	0	13	29				
PTPRM	5797	broad.mit.edu	37	18	7926657	7926657	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr18:7926657G>A	ENST00000332175.8	+	5	1676	c.639G>A	c.(637-639)gtG>gtA	p.V213V	PTPRM_ENST00000400053.4_Silent_p.V151V|PTPRM_ENST00000580170.1_Silent_p.V213V|PTPRM_ENST00000400060.4_Silent_p.V213V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	213	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGGACCGTGGCAGGAGACA	0.522																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(637-639)GTG>GTA		protein tyrosine phosphatase, receptor type, M							78.0	74.0	76.0					18																	7926657		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7926657G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.639G>A	18.37:g.7926657G>A						PTPRM_uc010dkv.2_Silent_p.V213V	p.V213V	NM_002845	NP_002836	P28827	PTPRM_HUMAN			5	1142	+		Colorectal(10;0.234)	213			Ig-like C2-type.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.639G>A	CCDS11840.1																																																																																				0.522	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			9	97	0	0	0	0	9	97				
WDR18	57418	broad.mit.edu	37	19	989771	989771	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:989771G>A	ENST00000251289.5	+	3	354	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	WDR18_ENST00000587001.2_Missense_Mutation_p.G111R|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	111					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G111W(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTCCACCGGGAACCTTCT	0.632																																						uc002lqm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(331-333)GGG>AGG		WD repeat domain 18							81.0	78.0	79.0					19																	989771		2202	4300	6502	SO:0001583	missense	57418							g.chr19:989771G>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.331G>A	19.37:g.989771G>A	ENSP00000251289:p.Gly111Arg					WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Missense_Mutation_p.G74R|WDR18_uc010dry.1_Missense_Mutation_p.G111R	p.G111R	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	357	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	111			WD 2.		O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	c.331G>A	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770310	0.49680	.	.	ENSG00000065268	ENST00000251289	T	0.22945	1.93	4.03	3.0	0.34707	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	0.56920	0.2018	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65216	-0.6222	10	0.87932	D	0	.	10.763	0.46277	0.0942:0.0:0.9058:0.0	.	111	Q9BV38	WDR18_HUMAN	R	111	ENSP00000251289:G111R	ENSP00000251289:G111R	G	+	1	0	WDR18	940771	1.000000	0.71417	0.888000	0.34837	0.164000	0.22412	8.407000	0.90218	0.917000	0.36895	-0.251000	0.11542	GGG		0.632	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			18	79	0	0	0	0	18	79				
ZNF426	79088	broad.mit.edu	37	19	9643595	9643595	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:9643595T>A	ENST00000535489.1	-	4	587	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	ZNF426_ENST00000589289.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000593003.1_Missense_Mutation_p.Q46L|ZNF426_ENST00000253115.2_Missense_Mutation_p.Q84L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGATGATCTGACCTCCTGA	0.413																																						uc002mlq.2		NA																	0				ovary(1)	1						c.(250-252)CAG>CTG		zinc finger protein 426							124.0	109.0	114.0					19																	9643595		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9643595T>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.251A>T	19.37:g.9643595T>A	ENSP00000439017:p.Gln84Leu					ZNF426_uc010dws.2_Missense_Mutation_p.Q46L	p.Q84L	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN			6	515	-			84			KRAB.		B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.251A>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942995	0.34283	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.00745	5.75;5.75	1.9	0.737	0.18314	Krueppel-associated box (3);	.	.	.	.	T	0.00815	0.0027	L	0.46670	1.46	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.08055	0.003;0.002	T	0.45745	-0.9240	9	0.25751	T	0.34	.	4.516	0.11935	0.0:0.0:0.346:0.654	.	71;84	Q59EH4;Q9BUY5	.;ZN426_HUMAN	L	71;84;84	ENSP00000253115:Q84L;ENSP00000439017:Q84L	ENSP00000253115:Q84L	Q	-	2	0	ZNF426	9504595	0.009000	0.17119	0.001000	0.08648	0.892000	0.51952	0.855000	0.27805	0.148000	0.19059	0.260000	0.18958	CAG		0.413	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		24	119	0	0	0	0	24	119				
ZSWIM4	65249	broad.mit.edu	37	19	13941278	13941278	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:13941278C>T	ENST00000254323.2	+	13	2573	c.2384C>T	c.(2383-2385)gCg>gTg	p.A795V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A629V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	795							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTGCTGGACGCGGCGGCCGGC	0.697																																						uc002mxh.1		NA																	0				central_nervous_system(2)	2						c.(2383-2385)GCG>GTG		zinc finger, SWIM-type containing 4							52.0	55.0	54.0					19																	13941278		2203	4299	6502	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941278C>T	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2384C>T	19.37:g.13941278C>T	ENSP00000254323:p.Ala795Val					ZSWIM4_uc010xng.1_Missense_Mutation_p.A718V	p.A795V	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2573	+			795						Missense_Mutation	SNP	ENST00000254323.2	37	c.2384C>T	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493678	0.44352	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.53640	0.61;0.62	4.14	4.14	0.48551	.	0.374066	0.22597	N	0.058017	T	0.55800	0.1943	L	0.52573	1.65	0.31623	N	0.649985	D;D	0.76494	0.975;0.999	P;D	0.66847	0.614;0.947	T	0.58814	-0.7570	10	0.33940	T	0.23	-27.0071	7.905	0.29757	0.0:0.8838:0.0:0.1162	.	629;795	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	V	795;629	ENSP00000254323:A795V;ENSP00000405278:A629V	ENSP00000254323:A795V	A	+	2	0	ZSWIM4	13802278	0.997000	0.39634	0.768000	0.31515	0.252000	0.25951	5.634000	0.67833	1.849000	0.53698	0.484000	0.47621	GCG		0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		64	81	0	0	0	0	64	81				
ZNF507	22847	broad.mit.edu	37	19	32844652	32844652	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:32844652G>A	ENST00000311921.4	+	2	1108	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	ZNF507_ENST00000544431.1_Missense_Mutation_p.V306I|ZNF507_ENST00000355898.5_Missense_Mutation_p.V306I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGATGCAGTCGTCATTGCTAT	0.478																																						uc002nte.2		NA																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(916-918)GTC>ATC		zinc finger protein 507							138.0	132.0	134.0					19																	32844652		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844652G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.916G>A	19.37:g.32844652G>A	ENSP00000312277:p.Val306Ile					ZNF507_uc002ntc.2_Missense_Mutation_p.V306I|ZNF507_uc010xrn.1_Missense_Mutation_p.V306I|ZNF507_uc002ntd.2_Missense_Mutation_p.V306I	p.V306I	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	1188	+	Esophageal squamous(110;0.162)		306					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.916G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649957	0.47362	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07327	3.51;3.51;3.2	5.91	5.91	0.95273	.	0.241087	0.43416	D	0.000576	T	0.15435	0.0372	M	0.63428	1.95	0.42787	D	0.993889	D;D	0.61697	0.983;0.99	B;P	0.46718	0.306;0.525	T	0.03761	-1.1006	10	0.22109	T	0.4	.	18.4862	0.90830	0.0:0.0:1.0:0.0	.	306;306	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	I	306	ENSP00000348162:V306I;ENSP00000312277:V306I;ENSP00000441549:V306I	ENSP00000312277:V306I	V	+	1	0	ZNF507	37536492	1.000000	0.71417	0.965000	0.40720	0.599000	0.36880	4.145000	0.58065	2.791000	0.96007	0.655000	0.94253	GTC		0.478	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		19	177	0	0	0	0	19	177				
BCKDHA	593	broad.mit.edu	37	19	41920002	41920002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:41920002G>A	ENST00000269980.2	+	4	792	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.V176M|BCKDHA_ENST00000595085.1_Missense_Mutation_p.V176M|BCKDHA_ENST00000457836.2_Missense_Mutation_p.V120M	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	142					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCACGCACGTGGGGAGTGC	0.617																																						uc002oqq.2		NA																	0					0						c.(424-426)GTG>ATG		branched chain keto acid dehydrogenase E1, alpha							76.0	63.0	68.0					19																	41920002		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41920002G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.424G>A	19.37:g.41920002G>A	ENSP00000269980:p.Val142Met					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.V176M|BCKDHA_uc002oqp.1_Missense_Mutation_p.V34M|BCKDHA_uc002oqr.2_Missense_Mutation_p.V142M|BCKDHA_uc010xvz.1_Missense_Mutation_p.V120M	p.V142M	NM_000709	NP_000700	P12694	ODBA_HUMAN			4	453	+			142					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.424G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283892	0.59867	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24	4.81	4.81	0.61882	Dehydrogenase, E1 component (1);	0.120810	0.56097	D	0.000036	D	0.95446	0.8521	L	0.54965	1.715	0.49213	D	0.999769	B;D;P;P	0.59357	0.386;0.985;0.71;0.949	B;P;B;B	0.45829	0.105;0.494;0.111;0.284	D	0.94663	0.7850	10	0.54805	T	0.06	-35.2069	11.3001	0.49300	0.0884:0.0:0.9116:0.0	.	120;142;142;176	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	M	176;142;113;120;142	ENSP00000443246:V176M;ENSP00000269980:V142M;ENSP00000440345:V113M;ENSP00000416000:V120M	ENSP00000269980:V142M	V	+	1	0	BCKDHA;CTC-435M10.3	46611842	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	4.366000	0.59492	2.654000	0.90174	0.563000	0.77884	GTG		0.617	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		16	83	0	0	0	0	16	83				
ERF	2077	broad.mit.edu	37	19	42754040	42754040	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:42754040G>A	ENST00000222329.4	-	3	469	c.312C>T	c.(310-312)taC>taT	p.Y104Y	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Silent_p.Y29Y|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	104					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AATTGAACTTGTAGGTGAACC	0.488																																						uc002ote.3		NA																	0				lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(310-312)TAC>TAT		Ets2 repressor factor							397.0	337.0	357.0					19																	42754040		2203	4300	6503	SO:0001819	synonymous_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754040G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.312C>T	19.37:g.42754040G>A						ERF_uc002otd.3_5'UTR	p.Y104Y	NM_006494	NP_006485	P50548	ERF_HUMAN			3	470	-		Prostate(69;0.00682)	104			ETS.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	c.312C>T	CCDS12600.1																																																																																				0.488	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		30	134	0	0	0	0	30	134				
NLRP2	55655	broad.mit.edu	37	19	55489152	55489152	+	Missense_Mutation	SNP	G	G	A	rs368936931		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:55489152G>A	ENST00000543010.1	+	4	501	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M|NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	120					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.V120M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTCTAGACGTGGACGAAAT	0.542																																						uc002qij.2		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(1)|skin(1)	2						c.(358-360)GTG>ATG		NLR family, pyrin domain containing 2		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	130.0	106.0	115.0		358,358,289,358	-2.7	0.0	19		115	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	120/1063,120/1041,97/1040,120/1063	55489152	2,13004	2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55489152G>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.358G>A	19.37:g.55489152G>A	ENSP00000445135:p.Val120Met					NLRP2_uc010yfp.1_Missense_Mutation_p.V97M|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.V120M|NLRP2_uc010esp.2_Missense_Mutation_p.V120M	p.V120M	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	4	444	+			120					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.358G>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	0.496	-0.873145	0.02570	0.0	2.33E-4	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	T;T;T;T;T;T;T;T	0.76448	-0.26;-0.84;-0.77;-0.84;-0.77;-1.02;-0.8;-0.45	1.32	-2.65	0.06095	.	.	.	.	.	T	0.48095	0.1481	N	0.14661	0.345	0.09310	N	1	B;P;P;B	0.39717	0.023;0.648;0.684;0.04	B;B;B;B	0.26969	0.003;0.075;0.008;0.003	T	0.37407	-0.9707	9	0.40728	T	0.16	.	1.4978	0.02470	0.1655:0.3792:0.2852:0.1702	.	97;120;120;120	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02	.;.;.;NALP2_HUMAN	M	120;120;120;120;120;97;120;52	ENSP00000443519:V120M;ENSP00000445135:V120M;ENSP00000344074:V120M;ENSP00000409370:V120M;ENSP00000440601:V120M;ENSP00000402474:V97M;ENSP00000263437:V120M;ENSP00000441363:V52M	ENSP00000263437:V120M	V	+	1	0	NLRP2	60180964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.559000	0.02162	-1.913000	0.01079	-0.467000	0.05162	GTG		0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		31	62	0	0	0	0	31	62				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	2	0	0	0	0	2	2				
PSME4	23198	broad.mit.edu	37	2	54120868	54120868	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:54120868T>C	ENST00000404125.1	-	35	4036	c.3981A>G	c.(3979-3981)tcA>tcG	p.S1327S	PSME4_ENST00000421748.2_Silent_p.S471S	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1327					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCTTCTAATGATAGAAAAG	0.289																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(3979-3981)TCA>TCG		proteasome (prosome, macropain) activator							52.0	58.0	56.0					2																	54120868		2201	4295	6496	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54120868T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3981A>G	2.37:g.54120868T>C						PSME4_uc010yop.1_Silent_p.S1213S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.S702S|PSME4_uc010fbv.1_Silent_p.S471S	p.S1327S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		35	4037	-			1327					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.3981A>G	CCDS33197.2																																																																																				0.289	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	30	0	0	0	0	8	30				
TFCP2L1	29842	broad.mit.edu	37	2	121981961	121981961	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:121981961C>T	ENST00000263707.5	-	15	1493	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	466					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E466Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCATTGCTCTCAGCTGCAAGA	0.517																																						uc002tmx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1396-1398)GAG>AAG		LBP-9							91.0	76.0	81.0					2																	121981961		2203	4300	6503	SO:0001583	missense	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:121981961C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.1396G>A	2.37:g.121981961C>T	ENSP00000263707:p.Glu466Lys					TFCP2L1_uc010flr.2_Missense_Mutation_p.E401K|TFCP2L1_uc010flq.2_RNA	p.E466K	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			15	1489	-	Renal(3;0.01)		466					Q4ZG43	Missense_Mutation	SNP	ENST00000263707.5	37	c.1396G>A	CCDS2134.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379324	0.61735	.	.	ENSG00000115112	ENST00000263707;ENST00000537910	T	0.20332	2.08	5.12	4.24	0.50183	.	0.359565	0.30911	N	0.008630	T	0.24275	0.0588	L	0.56769	1.78	0.80722	D	1	B	0.16802	0.019	B	0.20955	0.032	T	0.03957	-1.0989	10	0.51188	T	0.08	.	14.0933	0.65004	0.0:0.9267:0.0:0.0733	.	466	Q9NZI6	TF2L1_HUMAN	K	466;19	ENSP00000263707:E466K	ENSP00000263707:E466K	E	-	1	0	TFCP2L1	121698431	1.000000	0.71417	0.824000	0.32777	0.880000	0.50808	6.189000	0.72051	1.279000	0.44446	0.557000	0.71058	GAG		0.517	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		17	32	0	0	0	0	17	32				
GPR155	151556	broad.mit.edu	37	2	175301127	175301127	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:175301127G>A	ENST00000392552.2	-	16	2568	c.2330C>T	c.(2329-2331)tCt>tTt	p.S777F	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.S777F|GPR155_ENST00000392551.2_Missense_Mutation_p.S777F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	777	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AGTTCCAGCAGAAGTCTTTGC	0.473																																						uc002uit.2		NA																	0				ovary(1)	1						c.(2329-2331)TCT>TTT		G protein-coupled receptor 155 isoform 9							103.0	102.0	103.0					2																	175301127		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175301127G>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2330C>T	2.37:g.175301127G>A	ENSP00000376335:p.Ser777Phe					GPR155_uc002uiu.2_Missense_Mutation_p.S777F|GPR155_uc002uiv.2_Missense_Mutation_p.S777F|GPR155_uc010fqs.2_Missense_Mutation_p.S749F	p.S777F	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			17	2721	-			777			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2330C>T	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754790	0.31046	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.12774	2.65;2.65;2.65	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.120762	0.64402	D	0.000014	T	0.14098	0.0341	N	0.05554	-0.025	0.50171	D	0.999851	D;P	0.57571	0.98;0.662	P;B	0.54312	0.748;0.305	T	0.11397	-1.0589	10	0.39692	T	0.17	-23.3934	14.6935	0.69103	0.0687:0.0:0.9313:0.0	.	257;777	F5H464;Q7Z3F1	.;GP155_HUMAN	F	777;257;777;777	ENSP00000376335:S777F;ENSP00000376334:S777F;ENSP00000295500:S777F	ENSP00000295500:S777F	S	-	2	0	GPR155	175009373	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	4.437000	0.59955	2.873000	0.98535	0.561000	0.74099	TCT		0.473	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		33	62	0	0	0	0	33	62				
HOXD13	3239	broad.mit.edu	37	2	176958165	176958165	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:176958165G>T	ENST00000392539.3	+	1	547	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	183					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCAACGAGGTGCCAGCGCG	0.627			T	NUP98	AML*																																	uc002ukf.1		NA		Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				lung(1)	1						c.(547-549)GTG>TTG		homeobox D13							54.0	49.0	50.0					2																	176958165		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958165G>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.547G>T	2.37:g.176958165G>T	ENSP00000376322:p.Val183Leu						p.V183L	NM_000523	NP_000514	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	634	+			183						Missense_Mutation	SNP	ENST00000392539.3	37	c.547G>T	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520789	0.27211	.	.	ENSG00000128714	ENST00000392539	D	0.94457	-3.43	4.26	4.26	0.50523	.	0.000000	0.53938	D	0.000058	D	0.87051	0.6081	N	0.12182	0.205	0.32896	D	0.512468	B	0.13594	0.008	B	0.15870	0.014	T	0.82460	-0.0446	10	0.10636	T	0.68	.	15.5997	0.76613	0.0:0.0:1.0:0.0	.	183	P35453	HXD13_HUMAN	L	183	ENSP00000376322:V183L	ENSP00000376322:V183L	V	+	1	0	HOXD13	176666411	0.969000	0.33509	1.000000	0.80357	0.983000	0.72400	2.028000	0.41088	2.184000	0.69523	0.563000	0.77884	GTG		0.627	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			12	53	1	0	0.00010058	0.000107498	12	53				
CASP8	841	broad.mit.edu	37	2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:202131411C>T	ENST00000432109.2	+	3	391	c.202C>T	c.(202-204)Cga>Tga	p.R68*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R127*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	2	Substitution - Nonsense(2)		ovary(2)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(202-204)CGA>TGA		caspase 8 isoform B precursor							67.0	68.0	68.0					2																	202131411		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131411C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.202C>T	2.37:g.202131411C>T	ENSP00000412523:p.Arg68*	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxo.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxp.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxq.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxs.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxt.1_Nonsense_Mutation_p.R127*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxw.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxy.1_Nonsense_Mutation_p.R68*|CASP8_uc002uxx.1_Nonsense_Mutation_p.R68*|CASP8_uc010ftf.2_Nonsense_Mutation_p.R68*	p.R68*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	411	+			68			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.202C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606738	0.87157	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.58	4.69	0.59074	.	0.756955	0.12477	N	0.465525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.7476	0.57289	0.2986:0.7014:0.0:0.0	.	.	.	.	X	68;68;68;68;68;68;68;68;68;127;68;68;68;68	.	ENSP00000264274:R68X	R	+	1	2	CASP8	201839656	0.483000	0.25956	0.726000	0.30738	0.117000	0.20001	1.715000	0.37971	1.324000	0.45282	-0.314000	0.08810	CGA		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		16	49	0	0	0	0	16	49				
IDH1	3417	broad.mit.edu	37	2	209108281	209108281	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:209108281C>T	ENST00000415913.1	-	6	949	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	IDH1_ENST00000345146.2_Missense_Mutation_p.E190K|IDH1_ENST00000446179.1_Missense_Mutation_p.E190K	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	190					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCAAAATCTTCAATTGACTTA	0.408			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NA		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		0				central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(568-570)GAA>AAA		isocitrate dehydrogenase 1 (NADP+), soluble							104.0	99.0	101.0					2																	209108281		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209108281C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.568G>A	2.37:g.209108281C>T	ENSP00000390265:p.Glu190Lys					IDH1_uc002vct.2_Missense_Mutation_p.E190K|IDH1_uc002vcu.2_Missense_Mutation_p.E190K	p.E190K	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	6	814	-			190					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.568G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919914	0.33908	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.69926	-0.44;-0.44;-0.44	5.82	0.209	0.15226	Isopropylmalate dehydrogenase-like domain (2);	0.458571	0.26362	N	0.024817	T	0.36963	0.0986	N	0.04686	-0.185	0.20975	N	0.999819	B	0.02656	0.0	B	0.04013	0.001	T	0.15009	-1.0452	10	0.38643	T	0.18	-8.4712	4.6142	0.12417	0.0:0.274:0.1788:0.5472	.	190	O75874	IDHC_HUMAN	K	190	ENSP00000260985:E190K;ENSP00000410513:E190K;ENSP00000390265:E190K	ENSP00000260985:E190K	E	-	1	0	IDH1	208816526	0.041000	0.20044	0.176000	0.23000	0.912000	0.54170	0.068000	0.14531	0.101000	0.17610	-0.494000	0.04653	GAA		0.408	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	40	0	0	0	0	28	40				
TMEM74B	55321	broad.mit.edu	37	20	1161909	1161909	+	Silent	SNP	C	C	T	rs139413230		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:1161909C>T	ENST00000381894.3	-	2	1025	c.354G>A	c.(352-354)ccG>ccA	p.P118P	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	118						integral component of membrane (GO:0016021)											CATAATCCACCGGGCGGCTCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18382	0.0		0.0	False		,,,				2504	0.001					uc010gaa.1		NA																	0				ovary(1)	1						c.(352-354)CCG>CCA		hypothetical protein LOC55321		C		0,4406		0,0,2203	75.0	81.0	79.0		354	-8.6	0.3	20	dbSNP_134	79	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	C20orf46	NM_018354.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		118/257	1161909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1161909C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.354G>A	20.37:g.1161909C>T						C20orf46_uc002weq.1_Silent_p.P118P	p.P118P	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	573	-			118					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.354G>A	CCDS13011.1																																																																																				0.627	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		22	94	0	0	0	0	22	94				
SPATA2	9825	broad.mit.edu	37	20	48524766	48524766	+	Missense_Mutation	SNP	C	C	A	rs150565930		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:48524766C>A	ENST00000422556.1	-	2	611	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.A88S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	88					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATGCTGAAGGCGCCGTGCAGA	0.577																																						uc010gie.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(262-264)GCC>TCC		spermatogenesis associated 2							91.0	86.0	88.0					20																	48524766		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48524766C>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.262G>T	20.37:g.48524766C>A	ENSP00000416799:p.Ala88Ser					SPATA2_uc002xuw.2_Missense_Mutation_p.A88S|SPATA2_uc010zyn.1_Intron	p.A88S	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	612	-	Hepatocellular(150;0.133)		88					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.262G>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498806	0.64298	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.61980	0.06;0.06	4.72	4.72	0.59763	.	0.118515	0.56097	N	0.000027	T	0.79822	0.4512	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82686	-0.0334	10	0.87932	D	0	-50.7564	18.2492	0.89997	0.0:1.0:0.0:0.0	.	88	Q9UM82	SPAT2_HUMAN	S	88	ENSP00000289431:A88S;ENSP00000416799:A88S	ENSP00000289431:A88S	A	-	1	0	SPATA2	47958173	1.000000	0.71417	0.979000	0.43373	0.005000	0.04900	7.122000	0.77169	2.618000	0.88619	0.655000	0.94253	GCC		0.577	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		46	98	1	0	3.22e-24	3.72e-24	46	98				
SON	6651	broad.mit.edu	37	21	34922496	34922496	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:34922496C>G	ENST00000356577.4	+	3	1434	c.959C>G	c.(958-960)cCa>cGa	p.P320R	SON_ENST00000300278.4_Missense_Mutation_p.P320R|SON_ENST00000290239.6_Missense_Mutation_p.P320R|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P320R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	320					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TACCCTGAGCCAAGCACATCA	0.468											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(958-960)CCA>CGA		SON DNA-binding protein isoform F							88.0	87.0	87.0					21																	34922496		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922496C>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.959C>G	21.37:g.34922496C>G	ENSP00000348984:p.Pro320Arg		OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_uc002ysb.1_Missense_Mutation_p.P320R|SON_uc002ysc.2_Missense_Mutation_p.P320R|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.P320R	NM_138927	NP_620305	P18583	SON_HUMAN			3	1008	+			320					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.959C>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226032	0.58668	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.18502	2.34;2.44;2.44;2.21	5.54	5.54	0.83059	.	0.000000	0.53938	D	0.000051	T	0.31606	0.0802	L	0.34521	1.04	0.33425	D	0.580402	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75484	0.972;0.982;0.986	T	0.28554	-1.0040	10	0.72032	D	0.01	.	15.3323	0.74223	0.0:1.0:0.0:0.0	.	320;320;320	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	R	320	ENSP00000348984:P320R;ENSP00000290239:P320R;ENSP00000300278:P320R;ENSP00000371095:P320R	ENSP00000290239:P320R	P	+	2	0	SON	33844366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.089000	0.41672	2.767000	0.95098	0.561000	0.74099	CCA		0.468	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		13	104	0	0	0	0	13	104				
FAM3B	54097	broad.mit.edu	37	21	42710379	42710379	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:42710379A>G	ENST00000357985.2	+	3	384	c.238A>G	c.(238-240)Agc>Ggc	p.S80G	FAM3B_ENST00000398647.3_Missense_Mutation_p.S32G|FAM3B_ENST00000398652.3_Missense_Mutation_p.S119G|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Missense_Mutation_p.S103G	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	80					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGGTTACTCAGCGGAGGTGG	0.458																																						uc002yzb.1		NA																	0					0						c.(238-240)AGC>GGC		family with sequence similarity 3, member B							124.0	109.0	114.0					21																	42710379		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42710379A>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.238A>G	21.37:g.42710379A>G	ENSP00000350673:p.Ser80Gly					FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Missense_Mutation_p.S32G|FAM3B_uc002yzd.1_Missense_Mutation_p.S103G|FAM3B_uc011aeq.1_Missense_Mutation_p.S94G	p.S80G	NM_058186	NP_478066	P58499	FAM3B_HUMAN			3	384	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	80						Missense_Mutation	SNP	ENST00000357985.2	37	c.238A>G	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947639	0.53186	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.69806	-0.36;-0.39;-0.43;-0.42	5.04	5.04	0.67666	.	0.065988	0.64402	D	0.000007	D	0.83362	0.5238	M	0.90425	3.115	0.45108	D	0.998122	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.78314	0.991;0.947;0.942;0.969	D	0.86374	0.1725	10	0.87932	D	0	.	11.1767	0.48603	1.0:0.0:0.0:0.0	.	94;103;32;80	B7Z7I9;A8MTF8;P58499-3;P58499	.;.;.;FAM3B_HUMAN	G	80;119;32;103	ENSP00000350673:S80G;ENSP00000381646:S119G;ENSP00000381642:S32G;ENSP00000381641:S103G	ENSP00000350673:S80G	S	+	1	0	FAM3B	41632249	1.000000	0.71417	0.978000	0.43139	0.340000	0.28889	5.346000	0.65992	1.884000	0.54569	0.383000	0.25322	AGC		0.458	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		4	123	0	0	0	0	4	123				
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGGAGAAAAAGGGAGCCGTG	0.637																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(910-912)AAA>AAG		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						120.0	85.0	97.0					21																	47409674		2203	4300	6503	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47409674A>G	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.912A>G	21.37:g.47409674A>G							p.K304K	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	11	1014	+	all_hematologic(128;0.24)		304			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.912A>G	CCDS13727.1																																																																																				0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		3	115	0	0	0	0	3	115				
SFI1	9814	broad.mit.edu	37	22	31979944	31979944	+	Silent	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:31979944C>G	ENST00000400288.2	+	13	1437	c.1332C>G	c.(1330-1332)gcC>gcG	p.A444A	SFI1_ENST00000414585.1_Silent_p.A291A|SFI1_ENST00000443326.1_Silent_p.A362A|SFI1_ENST00000432498.1_Silent_p.A413A|SFI1_ENST00000443011.1_Silent_p.A291A|SFI1_ENST00000400289.1_Silent_p.A362A|SFI1_ENST00000540643.1_Silent_p.A389A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	444					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGCATGCTGCCTGGGACCACT	0.517																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(1330-1332)GCC>GCG		spindle assembly associated Sfi1 homolog isoform							116.0	119.0	118.0					22																	31979944		2010	4187	6197	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31979944C>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1332C>G	22.37:g.31979944C>G						SFI1_uc003ald.1_Silent_p.A420A|SFI1_uc003alf.2_Silent_p.A413A|SFI1_uc003alg.2_Silent_p.A362A|SFI1_uc011alp.1_Silent_p.A362A|SFI1_uc011alq.1_Silent_p.A389A|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	p.A444A	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			13	1725	+			444					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.1332C>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802414	0.16397	.	.	ENSG00000198089	ENST00000425671	.	.	.	5.96	2.34	0.29019	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.47994	D	0.999568	.	.	.	.	.	.	T	0.50591	-0.8810	4	.	.	.	.	8.207	0.31461	0.0:0.7177:0.0:0.2823	.	.	.	.	R	18	.	.	P	+	2	0	SFI1	30309944	0.040000	0.19996	0.983000	0.44433	0.863000	0.49368	0.048000	0.14078	0.862000	0.35528	0.655000	0.94253	CCT		0.517	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		62	123	0	0	0	0	62	123				
TNRC6B	23112	broad.mit.edu	37	22	40669448	40669448	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:40669448C>T	ENST00000454349.2	+	7	3196	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TNRC6B_ENST00000402203.1_Silent_p.D248D|TNRC6B_ENST00000301923.9_Silent_p.D248D|TNRC6B_ENST00000335727.9_Silent_p.D942D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	995					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTATGCAAGACGGCTGGGGGG	0.483																																						uc011aor.1		NA																	0					0						c.(2983-2985)GAC>GAT		trinucleotide repeat containing 6B isoform 1							19.0	21.0	21.0					22																	40669448		1876	4110	5986	SO:0001819	synonymous_variant	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40669448C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2985C>T	22.37:g.40669448C>T						TNRC6B_uc003aym.2_Silent_p.D248D|TNRC6B_uc003ayn.3_Silent_p.D942D|TNRC6B_uc003ayo.2_Silent_p.D799D	p.D995D	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			7	3196	+			995					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Silent	SNP	ENST00000454349.2	37	c.2985C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476637	0.12521	.	.	ENSG00000100354	ENST00000446273	.	.	.	6.04	-12.1	0.00011	.	.	.	.	.	T	0.71685	0.3369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81004	-0.1129	4	.	.	.	-13.5825	23.4597	0.99983	0.0:0.1181:0.0:0.8819	.	.	.	.	M	738	.	.	T	+	2	0	TNRC6B	38999394	0.354000	0.24912	0.103000	0.21229	0.940000	0.58332	-0.381000	0.07417	-2.543000	0.00484	-1.987000	0.00451	ACG		0.483	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	6	0	0	0	0	5	6				
PANX2	56666	broad.mit.edu	37	22	50615649	50615649	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:50615649G>A	ENST00000395842.2	+	2	508	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PANX2_ENST00000159647.5_Missense_Mutation_p.E170K	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	170					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGCGGCCGAGGGCCGCGC	0.662																																						uc003bjn.3		NA																	0				breast(1)	1						c.(508-510)GAG>AAG		pannexin 2 isoform 1							18.0	19.0	19.0					22																	50615649		2185	4293	6478	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615649G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.508G>A	22.37:g.50615649G>A	ENSP00000379183:p.Glu170Lys					PANX2_uc003bjp.3_Missense_Mutation_p.E36K|PANX2_uc003bjo.3_Missense_Mutation_p.E170K	p.E170K	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	508	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	170			Cytoplasmic (Potential).		B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.508G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596102	0.86953	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.32988	1.43;1.43	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.25950	-1.0117	10	0.21540	T	0.41	-1.2506	18.1383	0.89630	0.0:0.0:1.0:0.0	.	170;170	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	K	170	ENSP00000159647:E170K;ENSP00000379183:E170K	ENSP00000159647:E170K	E	+	1	0	PANX2	48957776	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	9.557000	0.98129	2.375000	0.81037	0.555000	0.69702	GAG		0.662	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	10	0	0	0	0	4	10				
ITPR1	3708	broad.mit.edu	37	3	4725969	4725969	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:4725969G>A	ENST00000443694.2	+	26	3458	c.3458G>A	c.(3457-3459)gGa>gAa	p.G1153E	ITPR1_ENST00000357086.4_Missense_Mutation_p.G1159E|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1144E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1159E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1168E|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1153E			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1168					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTCTAGGAGGGAAATAACAAG	0.433																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(3475-3477)GGA>GAA		inositol 1,4,5-triphosphate receptor, type 1							98.0	112.0	108.0					3																	4725969		1940	4142	6082	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725969G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3458G>A	3.37:g.4725969G>A	ENSP00000401671:p.Gly1153Glu					ITPR1_uc010hca.1_Missense_Mutation_p.G1144E|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.G90E	p.G1159E	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	29	3824	+			1168			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3476G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567242	0.28003	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.05	5.05	0.67936	.	0.589779	0.18685	N	0.134045	T	0.81361	0.4806	L	0.32530	0.975	0.80722	D	1	B;B	0.17465	0.004;0.022	B;B	0.17722	0.003;0.019	T	0.73084	-0.4094	10	0.02654	T	1	.	14.4133	0.67132	0.0:0.1474:0.8526:0.0	.	1168;1159	Q14643;G5E9P1	ITPR1_HUMAN;.	E	1168;1153;1168;1159;1159;1144;1153	ENSP00000306253:G1153E;ENSP00000346595:G1168E;ENSP00000405934:G1159E;ENSP00000349597:G1159E;ENSP00000397885:G1144E;ENSP00000401671:G1153E	ENSP00000306253:G1153E	G	+	2	0	ITPR1	4700969	1.000000	0.71417	0.970000	0.41538	0.257000	0.26127	6.277000	0.72608	2.491000	0.84063	0.557000	0.71058	GGA		0.433	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	14	0	0	0	0	3	14				
LRRFIP2	9209	broad.mit.edu	37	3	37095356	37095356	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:37095356G>C	ENST00000336686.4	-	28	2232	c.2152C>G	c.(2152-2154)Ctg>Gtg	p.L718V	LRRFIP2_ENST00000440230.1_Missense_Mutation_p.L421V|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.L500V|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.L718V|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.L421V|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.L397V			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	718					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCTGGGCCAGAAGTGCTGTC	0.532																																						uc003cgp.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(1)	1						c.(2152-2154)CTG>GTG		leucine rich repeat (in FLII) interacting							156.0	132.0	140.0					3																	37095356		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37095356G>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.2152C>G	3.37:g.37095356G>C	ENSP00000338727:p.Leu718Val					MLH1_uc011aye.1_Intron|LRRFIP2_uc011ayf.1_Missense_Mutation_p.L500V|LRRFIP2_uc003cgr.2_Missense_Mutation_p.L421V|LRRFIP2_uc003cgs.3_Missense_Mutation_p.L421V|LRRFIP2_uc003cgt.3_Missense_Mutation_p.L397V	p.L718V	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN			29	2575	-			718					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.2152C>G	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836003	0.71373	.	.	ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230	T;T;T;T;T;T	0.64438	-0.1;-0.04;-0.1;-0.02;0.02;-0.02	5.9	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.81914	0.99;0.995;0.995;0.984	T	0.79645	-0.1717	10	0.62326	D	0.03	-7.1763	12.8404	0.57800	0.1835:0.0:0.8165:0.0	.	500;397;421;718	A8MXR0;Q9Y608-2;Q9Y608-4;Q9Y608	.;.;.;LRRF2_HUMAN	V	718;397;718;421;500;421	ENSP00000392217:L718V;ENSP00000346349:L397V;ENSP00000338727:L718V;ENSP00000416364:L421V;ENSP00000379705:L500V;ENSP00000405480:L421V	ENSP00000338727:L718V	L	-	1	2	LRRFIP2	37070360	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	3.999000	0.57031	1.499000	0.48617	-0.205000	0.12727	CTG		0.532	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		36	77	0	0	0	0	36	77				
KIAA1524	57650	broad.mit.edu	37	3	108288376	108288376	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:108288376G>T	ENST00000295746.8	-	9	1049	c.973C>A	c.(973-975)Cca>Aca	p.P325T	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.P166T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	325					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCAGGTGGAGACTGTTCA	0.458																																						uc003dxb.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(973-975)CCA>ACA		p90 autoantigen							63.0	58.0	60.0					3																	108288376		2203	4299	6502	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108288376G>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.973C>A	3.37:g.108288376G>T	ENSP00000295746:p.Pro325Thr					KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.P166T|KIAA1524_uc010hpw.1_Missense_Mutation_p.P166T	p.P325T	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			9	1242	-			325					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.973C>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117557	0.37339	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.11930	2.73;2.88	5.85	3.01	0.34805	Armadillo-type fold (1);	0.165377	0.53938	D	0.000055	T	0.07999	0.0200	N	0.22421	0.69	0.31108	N	0.710316	B	0.02656	0.0	B	0.06405	0.002	T	0.08126	-1.0737	10	0.42905	T	0.14	-4.5464	4.8897	0.13721	0.0851:0.4025:0.3931:0.1193	.	325	Q8TCG1	CIP2A_HUMAN	T	166;325	ENSP00000419487:P166T;ENSP00000295746:P325T	ENSP00000295746:P325T	P	-	1	0	KIAA1524	109771066	0.981000	0.34729	0.990000	0.47175	0.978000	0.69477	1.289000	0.33307	0.816000	0.34421	0.655000	0.94253	CCA		0.458	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		6	25	1	0	1.07e-07	1.19e-07	6	25				
PLSCR4	57088	broad.mit.edu	37	3	145912935	145912935	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:145912935C>T	ENST00000354952.2	-	8	1161	c.921G>A	c.(919-921)atG>atA	p.M307I	PLSCR4_ENST00000383083.2_Missense_Mutation_p.M217I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.M202I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M307I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M307I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	307					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTCCAAAAATCATGGCTTTCA	0.398																																						uc010huy.2		NA																	0					0						c.(919-921)ATG>ATA		phospholipid scramblase 4 isoform a							134.0	113.0	120.0					3																	145912935		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145912935C>T	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.921G>A	3.37:g.145912935C>T	ENSP00000347038:p.Met307Ile					PLSCR4_uc010huz.2_Missense_Mutation_p.M307I|PLSCR4_uc003evt.3_Missense_Mutation_p.M307I|PLSCR4_uc010hva.2_Missense_Mutation_p.M217I|PLSCR4_uc003evu.3_Missense_Mutation_p.M202I	p.M307I	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			8	1250	-			307			Helical; (Potential).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.921G>A	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460608	0.26248	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	4.75	4.75	0.60458	.	0.157917	0.45361	D	0.000375	T	0.20210	0.0486	L	0.43152	1.355	0.32868	D	0.508826	B;B	0.22080	0.028;0.064	B;B	0.25291	0.023;0.059	T	0.15321	-1.0441	10	0.66056	D	0.02	.	11.8759	0.52548	0.0:0.7117:0.2883:0.0	.	217;307	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	I	307;217;202;307;307	ENSP00000347038:M307I;ENSP00000372561:M217I;ENSP00000415605:M202I;ENSP00000399315:M307I;ENSP00000419040:M307I	ENSP00000347038:M307I	M	-	3	0	PLSCR4	147395625	0.977000	0.34250	1.000000	0.80357	0.153000	0.21895	0.017000	0.13399	2.621000	0.88768	0.591000	0.81541	ATG		0.398	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		6	49	0	0	0	0	6	49				
MED12L	116931	broad.mit.edu	37	3	151082800	151082800	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:151082800T>C	ENST00000474524.1	+	20	2924	c.2886T>C	c.(2884-2886)taT>taC	p.Y962Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.Y822Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	962						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACCATATATAATAACGTGA	0.353																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2884-2886)TAT>TAC		mediator of RNA polymerase II transcription,							146.0	155.0	152.0					3																	151082800		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151082800T>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2886T>C	3.37:g.151082800T>C						MED12L_uc011bnz.1_Silent_p.Y822Y|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Silent_p.Y125Y	p.Y962Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		20	2924	+			962					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2886T>C	CCDS33876.1																																																																																				0.353	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		68	246	0	0	0	0	68	246				
ENPEP	2028	broad.mit.edu	37	4	111441470	111441470	+	Missense_Mutation	SNP	C	C	T	rs544907084		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr4:111441470C>T	ENST00000265162.5	+	10	2017	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	559					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CACACAGAAACGCTTTTTGTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		17302	0.0		0.0	False		,,,				2504	0.001					uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(1675-1677)CGC>TGC		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						137.0	123.0	128.0					4																	111441470		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111441470C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1675C>T	4.37:g.111441470C>T	ENSP00000265162:p.Arg559Cys						p.R559C	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	10	2017	+		Hepatocellular(203;0.217)	559			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1675C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701329	0.68501	.	.	ENSG00000138792	ENST00000265162	T	0.02015	4.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.07809	-1.0753	10	0.87932	D	0	.	19.6049	0.95576	0.0:1.0:0.0:0.0	.	559	Q07075	AMPE_HUMAN	C	559	ENSP00000265162:R559C	ENSP00000265162:R559C	R	+	1	0	ENPEP	111660919	1.000000	0.71417	0.995000	0.50966	0.366000	0.29705	5.588000	0.67517	2.719000	0.93026	0.650000	0.86243	CGC		0.448	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			34	30	0	0	0	0	34	30				
FAT1	2195	broad.mit.edu	37	4	187539564	187539564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr4:187539564G>A	ENST00000441802.2	-	10	8385	c.8176C>T	c.(8176-8178)Cga>Tga	p.R2726*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2726	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2729R(1)|p.R2726R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTCTGCTCGGATGAGATCT	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8176-8178)CGA>TGA		FAT tumor suppressor 1 precursor							124.0	121.0	122.0					4																	187539564		1905	4111	6016	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539564G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8176C>T	4.37:g.187539564G>A	ENSP00000406229:p.Arg2726*	HNSCC(5;0.00058)					p.R2726*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8364	-			2726			Extracellular (Potential).|Cadherin 25.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8176C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	48	14.034305	0.99776	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	2.0	0.26442	.	0.451231	0.23314	N	0.049526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	13.8005	0.63196	0.0:0.0:0.4926:0.5074	.	.	.	.	X	2726;2728	.	ENSP00000260147:R2728X	R	-	1	2	FAT1	187776558	0.990000	0.36364	0.769000	0.31535	0.267000	0.26476	1.921000	0.40035	0.741000	0.32674	0.655000	0.94253	CGA		0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		70	65	0	0	0	0	70	65				
CEP72	55722	broad.mit.edu	37	5	637680	637680	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:637680C>G	ENST00000264935.5	+	7	1043	c.953C>G	c.(952-954)tCa>tGa	p.S318*	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	318					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTGGATTTGTCAGGAGAAATG	0.552																																						uc003jbf.2		NA																	0				ovary(1)	1						c.(952-954)TCA>TGA		centrosomal protein 72 kDa							61.0	63.0	62.0					5																	637680		2203	4300	6503	SO:0001587	stop_gained	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637680C>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.953C>G	5.37:g.637680C>G	ENSP00000264935:p.Ser318*					CEP72_uc011clz.1_RNA	p.S318*	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1025	+			318					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Nonsense_Mutation	SNP	ENST00000264935.5	37	c.953C>G	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216568	0.79352	.	.	ENSG00000112877	ENST00000264935	.	.	.	4.76	1.99	0.26369	.	1.841740	0.02307	N	0.071749	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.0487	7.6748	0.28480	0.0:0.7223:0.0:0.2777	.	.	.	.	X	318	.	ENSP00000264935:S318X	S	+	2	0	CEP72	690680	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.130000	0.10498	0.290000	0.22444	0.561000	0.74099	TCA		0.552	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		15	108	0	0	0	0	15	108				
DHX29	54505	broad.mit.edu	37	5	54603304	54603304	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:54603304G>A	ENST00000251636.5	-	1	246	c.98C>T	c.(97-99)gCc>gTc	p.A33V	SKIV2L2_ENST00000545714.1_5'Flank|SKIV2L2_ENST00000230640.5_5'Flank	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	33	Ala-rich.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGCCTCCCCGGCAATTCCAGC	0.662																																						uc003jpx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(97-99)GCC>GTC		DEAH (Asp-Glu-Ala-His) box polypeptide 29							50.0	63.0	58.0					5																	54603304		2198	4286	6484	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54603304G>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.98C>T	5.37:g.54603304G>A	ENSP00000251636:p.Ala33Val					SKIV2L2_uc003jpy.3_5'Flank|SKIV2L2_uc011cqi.1_5'Flank|DHX29_uc010ivw.2_RNA	p.A33V	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			1	218	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	33			Ala-rich.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.98C>T	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	5.264	0.234181	0.09969	.	.	ENSG00000067248	ENST00000251636;ENST00000508346	T	0.03635	3.86	5.3	0.426	0.16479	.	0.811237	0.11644	N	0.543454	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	10	0.30854	T	0.27	.	4.7427	0.13022	0.2976:0.0:0.5619:0.1404	.	33	Q7Z478	DHX29_HUMAN	V	33;22	ENSP00000251636:A33V	ENSP00000251636:A33V	A	-	2	0	DHX29	54639061	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	0.514000	0.22786	-0.105000	0.12132	-0.768000	0.03414	GCC		0.662	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		41	157	0	0	0	0	41	157				
KIF4B	285643	broad.mit.edu	37	5	154394891	154394891	+	Missense_Mutation	SNP	C	C	T	rs200812701		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:154394891C>T	ENST00000435029.4	+	1	1632	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTGATACTGCGGTAGAAGAA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21352	0.0		0.001	False		,,,				2504	0.0					uc010jih.1		NA																	0				ovary(1)	1						c.(1471-1473)GCG>GTG		kinesin family member 4B							100.0	110.0	106.0					5																	154394891		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394891C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1472C>T	5.37:g.154394891C>T	ENSP00000387875:p.Ala491Val						p.A491V	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1632	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	491			Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1472C>T	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	0.004	-2.368346	0.00209	.	.	ENSG00000226650	ENST00000435029	T	0.68331	-0.32	1.34	-0.942	0.10398	.	.	.	.	.	T	0.44244	0.1284	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18745	-1.0327	9	0.21540	T	0.41	.	2.6373	0.04961	0.0:0.4625:0.3104:0.2271	.	491	Q2VIQ3	KIF4B_HUMAN	V	491	ENSP00000387875:A491V	ENSP00000387875:A491V	A	+	2	0	KIF4B	154375084	0.026000	0.19158	0.000000	0.03702	0.002000	0.02628	0.265000	0.18515	-0.316000	0.08690	-0.463000	0.05309	GCG		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			16	114	0	0	0	0	16	114				
ZNF454	285676	broad.mit.edu	37	5	178369801	178369801	+	Silent	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:178369801C>A	ENST00000320129.3	+	2	312	c.9C>A	c.(7-9)gtC>gtA	p.V3V	ZNF454_ENST00000519564.1_Silent_p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAATGGCTGTCAGCCACCTGC	0.537																																						uc003mjo.1		NA																	0				ovary(2)|lung(1)	3						c.(7-9)GTC>GTA		zinc finger protein 454							105.0	101.0	102.0					5																	178369801		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178369801C>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.9C>A	5.37:g.178369801C>A						ZNF454_uc010jkz.1_Silent_p.V3V|ZNF454_uc003mjp.2_Missense_Mutation_p.Q39K	p.V3V	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	2	280	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	3					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.9C>A	CCDS4441.1																																																																																				0.537	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		7	65	1	0	5.18e-06	5.63e-06	7	65				
BTNL8	79908	broad.mit.edu	37	5	180335650	180335650	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:180335650C>A	ENST00000340184.4	+	2	320	c.114C>A	c.(112-114)ttC>ttA	p.F38L	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.F38L|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000231229.4_Missense_Mutation_p.F38L	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	38	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGCAGCATTCTCCTGTTTCC	0.552																																						uc003mmp.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(112-114)TTC>TTA		butyrophilin-like 8 isoform 2 precursor							95.0	94.0	94.0					5																	180335650		2203	4300	6503	SO:0001583	missense	79908					integral to membrane		g.chr5:180335650C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.114C>A	5.37:g.180335650C>A	ENSP00000342197:p.Phe38Leu					BTNL8_uc003mmq.2_Missense_Mutation_p.F38L|BTNL8_uc011dhg.1_Intron|BTNL8_uc010jll.2_Missense_Mutation_p.F38L|BTNL8_uc010jlm.2_Intron|BTNL8_uc011dhh.1_5'Flank	p.F38L	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	348	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	38			Extracellular (Potential).|Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.114C>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	8.430	0.848361	0.17034	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.00912	5.55;5.55;5.55	2.74	0.868	0.19090	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00524	0.0017	N	0.05592	-0.015	0.09310	N	0.999994	P;P;P	0.41978	0.767;0.767;0.467	B;B;B	0.42653	0.394;0.394;0.136	T	0.25117	-1.0141	9	0.02654	T	1	.	2.2726	0.04095	0.2474:0.4593:0.0:0.2933	.	38;38;38	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	L	38	ENSP00000231229:F38L;ENSP00000342197:F38L;ENSP00000424585:F38L	ENSP00000231229:F38L	F	+	3	2	BTNL8	180268256	0.000000	0.05858	0.011000	0.14972	0.051000	0.14879	-0.669000	0.05262	0.486000	0.27676	0.436000	0.28706	TTC		0.552	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		37	70	1	0	2.48e-24	2.88e-24	37	70				
RREB1	6239	broad.mit.edu	37	6	7230732	7230732	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:7230732G>A	ENST00000349384.6	+	10	2714	c.2400G>A	c.(2398-2400)gcG>gcA	p.A800A	RREB1_ENST00000334984.6_Silent_p.A800A|RREB1_ENST00000379933.3_Silent_p.A800A|RREB1_ENST00000379938.2_Silent_p.A800A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	800					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGCGTTCGCGGCCAAGCGCA	0.711																																						uc003mxc.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2398-2400)GCG>GCA		ras responsive element binding protein 1 isoform							10.0	8.0	9.0					6																	7230732		2075	4043	6118	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230732G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2400G>A	6.37:g.7230732G>A						RREB1_uc003mxb.2_Silent_p.A800A|RREB1_uc010jnx.2_Silent_p.A800A	p.A800A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	2790	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	800			C2H2-type 11.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2400G>A	CCDS34336.1																																																																																				0.711	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	19	0	0	0	0	4	19				
TAAR2	9287	broad.mit.edu	37	6	132938773	132938773	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:132938773T>G	ENST00000367931.1	-	2	571	c.572A>C	c.(571-573)tAt>tCt	p.Y191S	TAAR2_ENST00000275191.2_Missense_Mutation_p.Y146S|TAAR2_ENST00000537809.1_Missense_Mutation_p.Y146S			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	191					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAAGATGTCATAGCCCTCTAT	0.493																																						uc003qdl.1		NA																	0				ovary(1)	1						c.(571-573)TAT>TCT		trace amine associated receptor 2 isoform 1							81.0	69.0	73.0					6																	132938773		2203	4300	6503	SO:0001583	missense	9287					plasma membrane	G-protein coupled receptor activity	g.chr6:132938773T>G	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.572A>C	6.37:g.132938773T>G	ENSP00000356908:p.Tyr191Ser					TAAR2_uc010kfr.1_Missense_Mutation_p.Y146S	p.Y191S	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)	2	572	-	Breast(56;0.135)		191			Extracellular (Potential).		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	ENST00000367931.1	37	c.572A>C	CCDS34541.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613581	0.46631	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.36157	1.27;1.27;1.27	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.39245	1.2	0.39992	D	0.975059	D	0.89917	1.0	D	0.97110	1.0	T	0.40079	-0.9582	10	0.56958	D	0.05	-42.0262	12.2892	0.54809	0.0:0.0674:0.0:0.9326	.	191	Q9P1P5	TAAR2_HUMAN	S	146;191;146	ENSP00000275191:Y146S;ENSP00000356908:Y191S;ENSP00000441263:Y146S	ENSP00000275191:Y146S	Y	-	2	0	TAAR2	132980466	0.987000	0.35691	0.986000	0.45419	0.195000	0.23768	1.682000	0.37628	2.295000	0.77249	0.528000	0.53228	TAT		0.493	TAAR2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390735.1	NM_014626		8	80	0	0	0	0	8	80				
ABCA13	154664	broad.mit.edu	37	7	48314202	48314202	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:48314202C>T	ENST00000435803.1	+	17	4963	c.4939C>T	c.(4939-4941)Cat>Tat	p.H1647Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1647					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTGTAGTTCATCACACTAG	0.373																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(4939-4941)CAT>TAT		ATP binding cassette, sub-family A (ABC1),							178.0	172.0	174.0					7																	48314202		1902	4120	6022	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314202C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4939C>T	7.37:g.48314202C>T	ENSP00000411096:p.His1647Tyr					ABCA13_uc010kyr.2_Missense_Mutation_p.H1150Y	p.H1647Y	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	4964	+			1647					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.4939C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.632495	0.00115	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.58	-1.88	0.07713	.	1.655890	0.03588	N	0.231385	T	0.71584	0.3357	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55798	-0.8084	9	.	.	.	.	7.2089	0.25923	0.0:0.3625:0.1197:0.5178	.	1647	Q86UQ4	ABCAD_HUMAN	Y	1647	ENSP00000411096:H1647Y	.	H	+	1	0	ABCA13	48284748	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.705000	0.05052	-0.446000	0.07149	-0.251000	0.11542	CAT		0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		60	137	0	0	0	0	60	137				
WBSCR17	64409	broad.mit.edu	37	7	70885987	70885987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:70885987G>T	ENST00000333538.5	+	5	1492	c.858G>T	c.(856-858)caG>caT	p.Q286H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	286					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGAGGTGCAGCGGTACGAGA	0.582																																						uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(856-858)CAG>CAT		UDP-GalNAc:polypeptide							151.0	139.0	143.0					7																	70885987		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885987G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.858G>T	7.37:g.70885987G>T	ENSP00000329654:p.Gln286His					WBSCR17_uc003tvz.2_5'UTR	p.Q286H	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	858	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	286			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.858G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703863	0.68501	.	.	ENSG00000185274	ENST00000333538	T	0.61040	0.14	5.32	3.53	0.40419	Glycosyl transferase, family 2 (1);	0.055931	0.64402	D	0.000001	T	0.57755	0.2075	N	0.25332	0.735	0.49483	D	0.999797	D	0.57257	0.979	P	0.62649	0.905	T	0.51490	-0.8699	10	0.29301	T	0.29	.	10.3915	0.44171	0.1562:0.0:0.8438:0.0	.	286	Q6IS24	GLTL3_HUMAN	H	286	ENSP00000329654:Q286H	ENSP00000329654:Q286H	Q	+	3	2	WBSCR17	70523923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.221000	0.42917	0.636000	0.30508	0.557000	0.71058	CAG		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		37	133	1	0	1.91e-15	2.17e-15	37	133				
PCLO	27445	broad.mit.edu	37	7	82785646	82785646	+	Missense_Mutation	SNP	C	C	T	rs201699382		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:82785646C>T	ENST00000333891.9	-	2	648	c.311G>A	c.(310-312)cGt>cAt	p.R104H	PCLO_ENST00000423517.2_Missense_Mutation_p.R104H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGGACGCCCAGGGTC	0.428																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(310-312)CGT>CAT		piccolo isoform 1		C	HIS/ARG,HIS/ARG	0,3636		0,0,1818	46.0	46.0	46.0		311,311	3.6	1.0	7		46	1,8145		0,1,4072	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	29,29	0,1,5890	TT,TC,CC		0.0123,0.0,0.0085	benign,benign	104/5143,104/4936	82785646	1,11781	1818	4073	5891	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785646C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.311G>A	7.37:g.82785646C>T	ENSP00000334319:p.Arg104His					PCLO_uc003uhv.2_Missense_Mutation_p.R104H	p.R104H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	600	-			104						Missense_Mutation	SNP	ENST00000333891.9	37	c.311G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638141	0.47153	0.0	1.23E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20069	2.1;2.11	5.54	3.63	0.41609	.	.	.	.	.	T	0.14141	0.0342	L	0.27053	0.805	0.80722	D	1	B;B	0.24132	0.098;0.098	B;B	0.15484	0.013;0.013	T	0.06041	-1.0849	9	0.87932	D	0	.	8.7332	0.34512	0.0:0.5907:0.3216:0.0878	.	104;104	Q9Y6V0-5;Q9Y6V0-6	.;.	H	104	ENSP00000334319:R104H;ENSP00000388393:R104H	ENSP00000334319:R104H	R	-	2	0	PCLO	82623582	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.235000	0.17948	1.352000	0.45808	0.591000	0.81541	CGT		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	43	0	0	0	0	9	43				
CSMD1	64478	broad.mit.edu	37	8	3565950	3565950	+	Missense_Mutation	SNP	T	T	C	rs371767824		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:3565950T>C	ENST00000520002.1	-	7	1550	c.995A>G	c.(994-996)cAt>cGt	p.H332R	CSMD1_ENST00000537824.1_Missense_Mutation_p.H332R|CSMD1_ENST00000602723.1_Missense_Mutation_p.H332R|CSMD1_ENST00000400186.3_Missense_Mutation_p.H332R|CSMD1_ENST00000542608.1_Missense_Mutation_p.H332R|CSMD1_ENST00000602557.1_Missense_Mutation_p.H332R|CSMD1_ENST00000539096.1_Missense_Mutation_p.H332R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	332						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTTTTTATGGCTTCCATC	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.001	False		,,,				2504	0.0					uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(994-996)CAT>CGT		CUB and Sushi multiple domains 1 precursor		T	ARG/HIS	2,3974		0,2,1986	93.0	95.0	95.0		995	0.4	0.1	8		95	0,8334		0,0,4167	no	missense	CSMD1	NM_033225.5	29	0,2,6153	CC,CT,TT		0.0,0.0503,0.0162	possibly-damaging	332/3565	3565950	2,12308	1988	4167	6155	SO:0001583	missense	64478					integral to membrane		g.chr8:3565950T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.995A>G	8.37:g.3565950T>C	ENSP00000430733:p.His332Arg						p.H332R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	7	1385	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	332			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.995A>G		.	.	.	.	.	.	.	.	.	.	T	11.25	1.583863	0.28268	5.03E-4	0.0	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.24723	1.84;1.96;1.98;1.84;2.3	5.72	0.388	0.16264	.	.	.	.	.	T	0.27384	0.0672	L	0.40543	1.245	0.27931	N	0.937883	P	0.45827	0.867	P	0.55112	0.769	T	0.16660	-1.0395	9	0.08381	T	0.77	.	8.0659	0.30661	0.0:0.0684:0.3984:0.5332	.	332	E5RIG2	.	R	332;332;194;332;332;332	ENSP00000383047:H332R;ENSP00000430733:H332R;ENSP00000441462:H332R;ENSP00000446243:H332R;ENSP00000441675:H332R	ENSP00000320445:H194R	H	-	2	0	CSMD1	3553358	1.000000	0.71417	0.114000	0.21550	0.083000	0.17756	3.634000	0.54302	-0.156000	0.11079	-0.323000	0.08544	CAT		0.463	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		18	32	0	0	0	0	18	32				
TTPA	7274	broad.mit.edu	37	8	63973923	63973923	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:63973923G>A	ENST00000260116.4	-	5	756	c.725C>T	c.(724-726)cCt>cTt	p.P242L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	242	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	ATATTCCAGAGGAAGAATGTC	0.393																																						uc003xux.1		NA																	0					0						c.(724-726)CCT>CTT		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						101.0	101.0	101.0					8																	63973923		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63973923G>A	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.725C>T	8.37:g.63973923G>A	ENSP00000260116:p.Pro242Leu						p.P242L	NM_000370	NP_000361	P49638	TTPA_HUMAN			5	757	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	242			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.725C>T	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103743	0.94245	.	.	ENSG00000137561	ENST00000260116	D	0.90676	-2.71	5.86	5.86	0.93980	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96593	0.9439	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	242	P49638	TTPA_HUMAN	L	242	ENSP00000260116:P242L	ENSP00000260116:P242L	P	-	2	0	TTPA	64136477	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.755000	0.91646	2.937000	0.99478	0.650000	0.86243	CCT		0.393	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		8	74	0	0	0	0	8	74				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		24	8	0	0	0	0	24	8				
OR13C8	138802	broad.mit.edu	37	9	107332319	107332319	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:107332319C>A	ENST00000335040.1	+	1	871	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GACTCCCATGCTTAATCCTCT	0.408																																						uc011lvo.1		NA																	0				ovary(1)|skin(1)	2						c.(871-873)CTT>ATT		olfactory receptor, family 13, subfamily C,							84.0	77.0	79.0					9																	107332319		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332319C>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.871C>A	9.37:g.107332319C>A	ENSP00000334068:p.Leu291Ile						p.L291I	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	871	+			291			Helical; Name=7; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.871C>A	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.715755	0.30413	.	.	ENSG00000186943	ENST00000335040	T	0.44083	0.93	4.9	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000237	T	0.36880	0.0983	L	0.61036	1.89	0.30000	N	0.816085	B	0.25772	0.134	B	0.29440	0.102	T	0.38308	-0.9667	10	0.51188	T	0.08	.	5.506	0.16854	0.3558:0.5519:0.0:0.0923	.	291	Q8NGS7	O13C8_HUMAN	I	291	ENSP00000334068:L291I	ENSP00000334068:L291I	L	+	1	0	OR13C8	106372140	0.000000	0.05858	1.000000	0.80357	0.909000	0.53808	-1.097000	0.03349	1.417000	0.47077	-0.268000	0.10319	CTT		0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			20	68	1	0	8.05e-18	9.24e-18	20	68				
FRMPD4	9758	broad.mit.edu	37	X	12736856	12736856	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:12736856T>G	ENST00000380682.1	+	16	4417	c.3911T>G	c.(3910-3912)tTt>tGt	p.F1304C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1304					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACCCCTGTTTGGCACATTG	0.507																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3910-3912)TTT>TGT		FERM and PDZ domain containing 4							185.0	177.0	180.0					X																	12736856		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736856T>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3911T>G	X.37:g.12736856T>G	ENSP00000370057:p.Phe1304Cys					FRMPD4_uc011mij.1_Missense_Mutation_p.F1296C	p.F1304C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	4417	+			1304					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3911T>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934320	0.52866	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08896	3.04	5.75	5.75	0.90469	.	0.164804	0.56097	D	0.000040	T	0.27278	0.0669	M	0.68317	2.08	0.33453	D	0.583889	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	T	0.38672	-0.9650	10	0.87932	D	0	-13.2093	15.0225	0.71640	0.0:0.0:0.0:1.0	.	1296;1304	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	1304;1295;1293	ENSP00000370057:F1304C	ENSP00000304583:F1293C	F	+	2	0	FRMPD4	12646777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.473000	0.53122	1.930000	0.55929	0.486000	0.48141	TTT		0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		72	67	0	0	0	0	72	67				
CACNA1F	778	broad.mit.edu	37	X	49089767	49089767	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:49089767G>A	ENST00000376265.2	-	1	66	c.5C>T	c.(4-6)tCg>tTg	p.S2L	CCDC22_ENST00000376227.3_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S2L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S2L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	2					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCAGATTCCGACATCTTTCT	0.577																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4-6)TCG>TTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						134.0	105.0	115.0					X																	49089767		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49089767G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5C>T	X.37:g.49089767G>A	ENSP00000365441:p.Ser2Leu					CACNA1F_uc010nip.2_Missense_Mutation_p.S2L|CCDC22_uc011mna.1_5'Flank|CCDC22_uc004dnc.1_5'Flank|CCDC22_uc004dnd.1_5'Flank	p.S2L	NM_005183	NP_005174	O60840	CAC1F_HUMAN			1	67	-			2			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810249	0.32053	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96200	-3.93;-3.94;-3.93	4.51	4.51	0.55191	.	1.006990	0.07997	N	0.988102	D	0.92067	0.7486	L	0.44542	1.39	0.26841	N	0.968374	P;P	0.39022	0.655;0.524	B;B	0.28139	0.086;0.039	D	0.86298	0.1678	10	0.72032	D	0.01	.	12.2916	0.54820	0.0:0.0:1.0:0.0	.	2;2	F5CIQ9;O60840	.;CAC1F_HUMAN	L	2	ENSP00000365427:S2L;ENSP00000321618:S2L;ENSP00000365441:S2L	ENSP00000321618:S2L	S	-	2	0	CACNA1F	48976711	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	2.730000	0.47335	2.194000	0.70268	0.436000	0.28706	TCG		0.577	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		23	13	0	0	0	0	23	13				
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:46494559delT	ENST00000361297.2	+	18	2455	c.2172delT	c.(2170-2172)cctfs	p.P724fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552																																						uc001cov.2		NA																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(2170-2172)CCTfs		microtubule associated serine/threonine kinase							200.0	200.0	200.0					1																	46494559		1992	4175	6167	SO:0001589	frameshift_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46494559delT	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2172delT	1.37:g.46494559delT	ENSP00000354671:p.Pro724fs					MAST2_uc001cow.2_Frame_Shift_Del_p.P724fs|MAST2_uc001coy.1_Frame_Shift_Del_p.P398fs|MAST2_uc001coz.1_Frame_Shift_Del_p.P609fs|MAST2_uc001cpa.2_RNA	p.P724fs	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			18	2455	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		724			Protein kinase.			Frame_Shift_Del	DEL	ENST00000361297.2	37	c.2172delT	CCDS41326.1																																																																																				0.552	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		9	388	NA	NA	NA	NA	9	388	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67044804	67044804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:67044804delT	ENST00000308595.5	+	2	465	c.175delT	c.(175-177)tttfs	p.F59fs	ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.F59fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	59	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGAGAAGATCTTTTCCCAGAA	0.607																																						uc009yrn.1		NA																	0				large_intestine(1)	1						c.(175-177)TTTfs		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						97.0	91.0	93.0					11																	67044804		2200	4295	6495	SO:0001589	frameshift_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67044804delT	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.175delT	11.37:g.67044804delT	ENSP00000312262:p.Phe59fs					ADRBK1_uc009yrm.1_Frame_Shift_Del_p.F59fs	p.F59fs	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		2	441	+			59			RGS.|N-terminal.		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	ENST00000308595.5	37	c.175delT	CCDS8156.1																																																																																				0.607	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		57	149	NA	NA	NA	NA	57	149	---	---	---	---
LCAT	3931	broad.mit.edu	37	16	67974104	67974112	+	In_Frame_Del	DEL	GCCCACGCC	GCCCACGCC	-	rs112299487		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:67974104_67974112delGCCCACGCC	ENST00000264005.5	-	6	1047_1055	c.1018_1026delGGCGTGGGC	c.(1018-1026)ggcgtgggcdel	p.GVG340del		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	340					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAG	0.608																																						uc002euy.1		NA																	0					0						c.(1018-1026)GGCGTGGGCdel		lecithin-cholesterol acyltransferase precursor																																				SO:0001651	inframe_deletion	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67974104_67974112delGCCCACGCC		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1018_1026delGGCGTGGGC	16.37:g.67974104_67974112delGCCCACGCC	ENSP00000264005:p.Gly340_Gly342del						p.GVG340del	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	6	1029_1037	-		Ovarian(137;0.0563)	340_342					Q53XQ3	In_Frame_Del	DEL	ENST00000264005.5	37	c.1018_1026delGGCGTGGGC	CCDS10854.1																																																																																				0.608	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3			33	153	NA	NA	NA	NA	33	153	---	---	---	---
NFAT5	10725	broad.mit.edu	37	16	69727514	69727515	+	Frame_Shift_Del	DEL	CT	CT	-	rs148486602		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:69727514_69727515delCT	ENST00000354436.2	+	12	4050_4051	c.3732_3733delCT	c.(3730-3735)aactctfs	p.S1245fs	NFAT5_ENST00000349945.1_Frame_Shift_Del_p.S1169fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.S1169fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.S1263fs|NFAT5_ENST00000567239.1_Frame_Shift_Del_p.S1262fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.S1169fs	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1245					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGAGTAACTCTCCATCCCA	0.505																																						uc002exm.1		NA																	0					0						c.(3730-3735)AACTCTfs		nuclear factor of activated T-cells 5 isoform c																																				SO:0001589	frameshift_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727514_69727515delCT	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3732_3733delCT	16.37:g.69727516_69727517delCT	ENSP00000346420:p.Ser1245fs					NFAT5_uc002exi.2_Frame_Shift_Del_p.N1168fs|NFAT5_uc002exj.1_Frame_Shift_Del_p.N1168fs|NFAT5_uc002exk.1_Frame_Shift_Del_p.N1168fs|NFAT5_uc002exl.1_Frame_Shift_Del_p.N1262fs|NFAT5_uc002exn.1_Frame_Shift_Del_p.N1261fs|NFAT5_uc002exo.1_RNA	p.N1244fs	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	4940_4941	+			1244_1245					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Frame_Shift_Del	DEL	ENST00000354436.2	37	c.3732_3733delCT	CCDS10881.1																																																																																				0.505	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		23	69	NA	NA	NA	NA	23	69	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs147002414|rs587782596|rs587780070|rs397514495		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000269305.4	-	5	718_735	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)ccccaccatgagcgctgcdel	p.PHHERC177del	TP53_ENST00000420246.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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)	CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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		643	Substitution - Missense(509)|Deletion - Frameshift(46)|Deletion - In frame(28)|Substitution - Nonsense(19)|Substitution - coding silent(18)|Insertion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Complex - insertion inframe(2)|Unknown(1)|Complex - compound substitution(1)	p.H179R(98)|p.H179Y(74)|p.H179L(31)|p.R181H(20)|p.H179Q(17)|p.P177L(17)|p.P177R(15)|p.R181P(14)|p.H179N(13)|p.E180*(13)|p.R181C(13)|p.H178fs*69(10)|p.H179D(10)|p.P177P(10)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.C182S(8)|p.0?(7)|p.H178P(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178N(3)|p.P177H(3)|p.E180D(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182Y(2)|p.C182C(2)|p.C182R(2)|p.R181R(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.R175_H178>X(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.H178fs*6(1)|p.H178L(1)|p.R174fs*3(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.P177I(1)|p.E180_S183del(1)|p.P177T(1)|p.K164_P219del(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.?(1)|p.R81fs*24(1)|p.P177_H179delPHH(1)|p.E180fs*6(1)	lung(96)|large_intestine(79)|upper_aerodigestive_tract(69)|breast(68)|skin(44)|ovary(43)|oesophagus(40)|central_nervous_system(35)|haematopoietic_and_lymphoid_tissue(31)|liver(27)|urinary_tract(22)|stomach(21)|endometrium(12)|pancreas(11)|prostate(9)|biliary_tract(8)|bone(8)|soft_tissue(5)|salivary_gland(3)|vulva(2)|kidney(2)|thyroid(2)|cervix(2)|genital_tract(2)|eye(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	CD983489|CM056067|CM067054|CM920671|CM920672|CM941328|CM942120	TP53	D|M	rs68130327	c.(529-546)CCCCACCATGAGCGCTGCdel	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001651	inframe_deletion	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.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	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.529_546delCCCCACCATGAGCGCTGC	17.37:g.7578384_7578401delGCAGCGCTCATGGTGGGG	ENSP00000269305:p.Pro177_Cys182del	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_In_Frame_Del_p.PHHERC177del|TP53_uc002gih.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cng.1_In_Frame_Del_p.PHHERC45del|TP53_uc002gii.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cnh.1_In_Frame_Del_p.PHHERC177del|TP53_uc010cni.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gij.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.PHHERC84del|TP53_uc002gio.2_In_Frame_Del_p.PHHERC45del|TP53_uc010vug.1_In_Frame_Del_p.PHHERC138del	p.PHHERC177del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	723_740	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177_182		C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).	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	In_Frame_Del	DEL	ENST00000269305.4	37	c.529_546delCCCCACCATGAGCGCTGC	CCDS11118.1																																																																																				0.638	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	65	NA	NA	NA	NA	9	65	---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16631037	16631038	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:16631037_16631038delAG	ENST00000360524.8	+	9	2164_2165	c.2088_2089delAG	c.(2086-2091)aaagagfs	p.E697fs	CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.E697fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.E697fs|CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.E417fs|CCDC144A_ENST00000443444.2_Frame_Shift_Del_p.E697fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	697																	AATGGGAGAAAGAGCTGTACGA	0.302																																						uc002gqk.1		NA																	0					0						c.(2086-2091)AAAGAGfs		coiled-coil domain containing 144A																																				SO:0001589	frameshift_variant	9720							g.chr17:16631037_16631038delAG	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2088_2089delAG	17.37:g.16631039_16631040delAG	ENSP00000353717:p.Glu697fs					CCDC144A_uc002gql.1_Frame_Shift_Del_p.K166fs|LOC162632_uc010cpj.1_RNA	p.K696fs	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			9	2164_2165	+			696_697			Potential.		O60311|Q6ZU57	Frame_Shift_Del	DEL	ENST00000360524.8	37	c.2088_2089delAG	CCDS45621.1																																																																																				0.302	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			7	48	NA	NA	NA	NA	7	48	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122418601	122418602	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:122418601_122418602insA	ENST00000474629.2	+	6	1466_1467	c.1200_1201insA	c.(1201-1203)aacfs	p.N401fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AATATAAAGTCAACCCAATTAA	0.406																																						uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(1198-1203)GTCAACfs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418601_122418602insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1202dupA	3.37:g.122418603_122418603dupA	ENSP00000418194:p.Asn401fs					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Frame_Shift_Ins_p.V117fs|PARP14_uc003efs.1_Frame_Shift_Ins_p.V117fs	p.V400fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1259_1260	+			400_401					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.1200_1201insA	CCDS46894.1																																																																																				0.406	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		55	123	NA	NA	NA	NA	55	123	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139412704	139412704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:139412704delG	ENST00000277541.6	-	7	1215	c.1140delC	c.(1138-1140)cccfs	p.P380fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	380	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGTTACAGGGGTTGCTGA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1138-1140)CCCfs		notch1 preproprotein							67.0	75.0	72.0					9																	139412704		2173	4278	6451	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412704delG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1140delC	9.37:g.139412704delG	ENSP00000277541:p.Pro380fs	HNSCC(8;0.001)					p.P380fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1140	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	380			Extracellular (Potential).|EGF-like 10.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.1140delC	CCDS43905.1																																																																																				0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	23	NA	NA	NA	NA	10	23	---	---	---	---
