#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
VPS13D	55187	broad.mit.edu	37	1	12428620	12428620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:12428620C>T	ENST00000358136.3	+	53	10676	c.10546C>T	c.(10546-10548)Cct>Tct	p.P3516S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P3491S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTTACCTCCTCCTTTCCGAAT	0.463																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(10546-10548)CCT>TCT		vacuolar protein sorting 13D isoform 1							179.0	158.0	165.0					1																	12428620		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12428620C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10546C>T	1.37:g.12428620C>T	ENSP00000350854:p.Pro3516Ser					VPS13D_uc001atw.2_Missense_Mutation_p.P3491S|VPS13D_uc001atx.2_Missense_Mutation_p.P2703S|VPS13D_uc009vnl.2_RNA	p.P3516S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	53	10687	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3515						Missense_Mutation	SNP	ENST00000358136.3	37	c.10546C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356617	0.95854	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.60171	0.21;0.21	6.04	6.04	0.98038	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.955;1.0	T	0.81050	-0.1108	10	0.87932	D	0	.	20.25	0.98402	0.0:1.0:0.0:0.0	.	3491;3515	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	S	3491;3516	ENSP00000348666:P3491S;ENSP00000350854:P3516S	ENSP00000348666:P3491S	P	+	1	0	VPS13D	12351207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.881000	0.98747	0.650000	0.86243	CCT		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		38	76	0	0	0	0	38	76				
SZT2	23334	broad.mit.edu	37	1	43905594	43905594	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:43905594A>G	ENST00000562955.1	+	50	6914	c.6914A>G	c.(6913-6915)aAg>aGg	p.K2305R	SZT2_ENST00000372442.1_Missense_Mutation_p.K1463R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2362					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTGTGGGAAAAGGGGAACATT	0.577																																						uc001cjk.1		NA																	0					0						c.(4387-4389)AAG>AGG		hypothetical protein LOC23334							80.0	83.0	82.0					1																	43905594		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43905594A>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6914A>G	1.37:g.43905594A>G	ENSP00000457168:p.Lys2305Arg						p.K1463R	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			36	4850	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2362					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4388A>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284489	0.59867	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.84	5.84	0.93424	.	0.059782	0.64402	D	0.000002	T	0.29914	0.0748	N	0.01874	-0.695	0.27040	N	0.964038	D	0.65815	0.995	P	0.59643	0.861	T	0.40251	-0.9573	9	0.27785	T	0.31	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	2305	Q5T011-5	.	R	1463	.	ENSP00000361519:K1463R	K	+	2	0	SZT2	43678181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.167000	0.89668	2.228000	0.72767	0.533000	0.62120	AAG		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	84	0	0	0	0	3	84				
CKS1B	1163	broad.mit.edu	37	1	154947264	154947264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:154947264G>A	ENST00000308987.5	+	1	90	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CKS1B_ENST00000368436.1_Missense_Mutation_p.E15K|SHC1_ENST00000368453.4_5'Flank|MIR4258_ENST00000580920.1_RNA|CKS1B_ENST00000368439.1_5'UTR|SHC1_ENST00000368450.1_5'Flank	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	15					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATACGACGACGAGGAGTTTGA	0.547																																						uc001fgb.2		NA																	0					0						c.(43-45)GAG>AAG		CDC28 protein kinase 1B							56.0	48.0	51.0					1																	154947264		2203	4300	6503	SO:0001583	missense	1163				cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	g.chr1:154947264G>A	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.43G>A	1.37:g.154947264G>A	ENSP00000311083:p.Glu15Lys					SHC1_uc001ffx.2_5'Flank|SHC1_uc001ffy.2_5'Flank|CKS1B_uc001fga.2_RNA|hsa-mir-4258|MI0015857_5'Flank	p.E15K	NM_001826	NP_001817	P61024	CKS1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	147	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		15					P33551	Missense_Mutation	SNP	ENST00000308987.5	37	c.43G>A	CCDS1077.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700529	0.88924	.	.	ENSG00000173207	ENST00000368436;ENST00000308987	.	.	.	5.26	5.26	0.73747	.	0.110981	0.64402	D	0.000011	T	0.44307	0.1287	.	.	.	0.80722	D	1	B	0.28258	0.205	B	0.22601	0.04	T	0.46596	-0.9180	8	0.51188	T	0.08	.	17.787	0.88541	0.0:0.0:1.0:0.0	.	15	P61024	CKS1_HUMAN	K	15	.	ENSP00000311083:E15K	E	+	1	0	CKS1B	153213888	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.856000	0.92245	2.733000	0.93635	0.591000	0.81541	GAG		0.547	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826		6	34	0	0	0	0	6	34				
PAPPA2	60676	broad.mit.edu	37	1	176659381	176659381	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr1:176659381G>T	ENST00000367662.3	+	5	3410	c.2246G>T	c.(2245-2247)aGt>aTt	p.S749I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S749I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	749	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAAGGAGTCAGTGAAAGAGAA	0.547																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2245-2247)AGT>ATT		pappalysin 2 isoform 1							118.0	120.0	119.0					1																	176659381		2076	4227	6303	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659381G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2246G>T	1.37:g.176659381G>T	ENSP00000356634:p.Ser749Ile					PAPPA2_uc001gky.1_Missense_Mutation_p.S749I|PAPPA2_uc009www.2_RNA	p.S749I	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3410	+			749			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2246G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012173	0.54468	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.46819	4.49;0.86	5.19	5.19	0.71726	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.88031	2.925	0.40746	D	0.982878	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78568	-0.2154	10	0.87932	D	0	-13.8879	12.7498	0.57302	0.0801:0.0:0.9199:0.0	.	749;749	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	I	749	ENSP00000356634:S749I;ENSP00000356633:S749I	ENSP00000356633:S749I	S	+	2	0	PAPPA2	174926004	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.455000	0.66658	2.394000	0.81467	0.563000	0.77884	AGT		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			19	147	1	0	5.04e-11	3.54e-10	19	147				
MGMT	4255	broad.mit.edu	37	10	131565233	131565233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:131565233C>T	ENST00000306010.7	+	5	721	c.689C>T	c.(688-690)tCg>tTg	p.S230L	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	199					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GGAGCTACCTCGGGCTCCCCG	0.632								Direct reversal of damage																														uc001lkh.2		NA																	0				ovary(1)|breast(1)	2						c.(688-690)TCG>TTG	Direct_reversal_of_damage	O-6-methylguanine-DNA methyltransferase							28.0	30.0	29.0					10																	131565233		2202	4300	6502	SO:0001583	missense	4255							g.chr10:131565233C>T	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.689C>T	10.37:g.131565233C>T	ENSP00000302111:p.Ser230Leu						p.S230L	NM_002412	NP_002403	P16455	MGMT_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	5	715	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	199					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.689C>T	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345816	0.41599	.	.	ENSG00000170430	ENST00000306010	T	0.06068	3.35	4.33	2.26	0.28386	.	1.274430	0.05705	N	0.594763	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B	0.30211	0.273	B	0.20184	0.028	T	0.43988	-0.9357	10	0.66056	D	0.02	.	13.0207	0.58784	0.0:0.6942:0.3058:0.0	.	230	B4DEE8	.	L	230	ENSP00000302111:S230L	ENSP00000302111:S230L	S	+	2	0	MGMT	131455223	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.253000	0.18296	0.912000	0.36772	0.563000	0.77884	TCG		0.632	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		6	26	0	0	0	0	6	26				
OR5AR1	219493	broad.mit.edu	37	11	56431686	56431686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:56431686T>G	ENST00000302969.2	+	1	549	c.525T>G	c.(523-525)aaT>aaG	p.N175K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	175						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATATCATCAATCATTTCTTCT	0.483																																						uc010rjm.1		NA																	0					0						c.(523-525)AAT>AAG		olfactory receptor, family 5, subfamily AR,							228.0	200.0	210.0					11																	56431686		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431686T>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.525T>G	11.37:g.56431686T>G	ENSP00000302639:p.Asn175Lys						p.N175K	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			1	525	+			175			Extracellular (Potential).		Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.525T>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621214	0.46736	.	.	ENSG00000172459	ENST00000302969	T	0.00115	8.71	4.8	-0.466	0.12153	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00210	0.0006	M	0.79258	2.445	0.26075	N	0.981161	P	0.36354	0.549	B	0.41036	0.346	T	0.24404	-1.0161	10	0.59425	D	0.04	.	10.3898	0.44162	0.0:0.4768:0.0:0.5232	.	175	Q8NGP9	O5AR1_HUMAN	K	175	ENSP00000302639:N175K	ENSP00000302639:N175K	N	+	3	2	OR5AR1	56188262	0.003000	0.15002	0.991000	0.47740	0.953000	0.61014	-0.738000	0.04871	0.001000	0.14605	-0.215000	0.12644	AAT		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		39	246	0	0	0	0	39	246				
OR6Q1	219952	broad.mit.edu	37	11	57798843	57798843	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:57798843T>G	ENST00000302622.3	+	1	442	c.419T>G	c.(418-420)gTg>gGg	p.V140G	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGGGCTTTTGTGTCCTGGGGC	0.507																																						uc010rjz.1		NA																	0				kidney(1)	1						c.(418-420)GTG>GGG		olfactory receptor, family 6, subfamily Q,							133.0	123.0	127.0					11																	57798843		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798843T>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.419T>G	11.37:g.57798843T>G	ENSP00000307734:p.Val140Gly					OR9Q1_uc001nmj.2_Intron	p.V140G	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	419	+		Breast(21;0.0707)|all_epithelial(135;0.142)	140			Cytoplasmic (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.419T>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953712	0.73902	.	.	ENSG00000172381	ENST00000302622	T	0.01455	4.87	5.04	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34802	N	0.003661	T	0.06096	0.0158	M	0.68317	2.08	0.45502	D	0.998462	D	0.64830	0.994	P	0.58331	0.837	T	0.06716	-1.0811	10	0.87932	D	0	.	9.2814	0.37731	0.0:0.0867:0.0:0.9133	.	140	Q8NGQ2	OR6Q1_HUMAN	G	140	ENSP00000307734:V140G	ENSP00000307734:V140G	V	+	2	0	OR6Q1	57555419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.513000	0.67037	1.897000	0.54924	0.523000	0.50628	GTG		0.507	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		20	124	0	0	0	0	20	124				
ARHGEF12	23365	broad.mit.edu	37	11	120348886	120348886	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:120348886C>G	ENST00000397843.2	+	37	3720	c.3554C>G	c.(3553-3555)tCt>tGt	p.S1185C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S1166C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S1082C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1185					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGATTAGAATCTACCTTAATA	0.383			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3553-3555)TCT>TGT		Rho guanine nucleotide exchange factor (GEF) 12							75.0	68.0	70.0					11																	120348886		1843	4085	5928	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120348886C>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3554C>G	11.37:g.120348886C>G	ENSP00000380942:p.Ser1185Cys					ARHGEF12_uc009zat.2_Missense_Mutation_p.S1166C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S1082C	p.S1185C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3561	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1185					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3554C>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295194	0.60086	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.70869	-0.41;-0.52;-0.4	5.48	4.55	0.56014	.	0.304354	0.23476	N	0.047776	T	0.69753	0.3146	L	0.29908	0.895	0.28623	N	0.908042	D;D	0.63880	0.993;0.988	P;P	0.56514	0.8;0.635	T	0.64300	-0.6440	10	0.44086	T	0.13	-2.4237	12.5707	0.56334	0.0:0.9185:0.0:0.0815	.	1166;1185	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	C	1185;1166;1082	ENSP00000380942:S1185C;ENSP00000349056:S1166C;ENSP00000432984:S1082C	ENSP00000349056:S1166C	S	+	2	0	ARHGEF12	119854096	0.975000	0.34042	0.980000	0.43619	0.725000	0.41563	3.130000	0.50508	2.722000	0.93159	0.655000	0.94253	TCT		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		8	42	0	0	0	0	8	42				
GLS2	27165	broad.mit.edu	37	12	56866515	56866515	+	Silent	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:56866515C>G	ENST00000311966.4	-	15	1748	c.1470G>C	c.(1468-1470)ctG>ctC	p.L490L	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	490					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CAGCAAATAACAGGTTGACCA	0.438																																						uc001slj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1468-1470)CTG>CTC		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						184.0	153.0	164.0					12																	56866515		2203	4300	6503	SO:0001819	synonymous_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56866515C>G		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1470G>C	12.37:g.56866515C>G						GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.L225L|GLS2_uc009zot.2_Silent_p.L151L	p.L490L	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			15	1749	-			490					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	ENST00000311966.4	37	c.1470G>C	CCDS8921.1																																																																																				0.438	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		3	84	0	0	0	0	3	84				
TPH2	121278	broad.mit.edu	37	12	72335511	72335511	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:72335511C>G	ENST00000333850.3	+	2	394	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	85	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAGGCTCTTTCAGGTGAATGT	0.398																																						uc009zrw.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(253-255)CAG>GAG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						117.0	119.0	118.0					12																	72335511		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335511C>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.253C>G	12.37:g.72335511C>G	ENSP00000329093:p.Gln85Glu					TPH2_uc001swy.2_5'UTR	p.Q85E	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			2	394	+			85			ACT.		A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.253C>G	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506364	0.64410	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99080	-5.4	5.91	5.91	0.95273	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	L	0.28054	0.825	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	D	0.94236	0.7481	10	0.22706	T	0.39	-20.8122	15.0655	0.71992	0.1419:0.8581:0.0:0.0	.	85	Q8IWU9	TPH2_HUMAN	E	85	ENSP00000329093:Q85E	ENSP00000266669:Q85E	Q	+	1	0	TPH2	70621778	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.467000	0.66737	2.804000	0.96469	0.650000	0.86243	CAG		0.398	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		13	76	0	0	0	0	13	76				
APPL2	55198	broad.mit.edu	37	12	105589401	105589401	+	Missense_Mutation	SNP	T	T	C	rs183791204	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:105589401T>C	ENST00000258530.3	-	12	1282	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V	APPL2_ENST00000549573.1_5'Flank|APPL2_ENST00000551662.1_Missense_Mutation_p.I359V|APPL2_ENST00000539978.2_Missense_Mutation_p.I310V	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGAGGATTATTCCCCTGAAA	0.408													T|||	2	0.000399361	0.0	0.0029	5008	,	,		22610	0.0		0.0	False		,,,				2504	0.0					uc001tlf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1057-1059)ATA>GTA		adaptor protein, phosphotyrosine interaction, PH							198.0	167.0	177.0					12																	105589401		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105589401T>C	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1057A>G	12.37:g.105589401T>C	ENSP00000258530:p.Ile353Val					APPL2_uc010swt.1_Missense_Mutation_p.I310V|APPL2_uc001tlg.1_Missense_Mutation_p.I107V|APPL2_uc010swu.1_Missense_Mutation_p.I359V|APPL2_uc009zuq.2_Missense_Mutation_p.I310V	p.I353V	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			12	1275	-			353			Required for RAB5A binding (By similarity).|PH.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1057A>G	CCDS9101.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	6.589	0.476981	0.12521	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.75477	-0.94;-0.94;-0.94	5.83	5.83	0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.081617	0.85682	D	0.000000	T	0.61527	0.2354	N	0.15975	0.35	0.43814	D	0.996374	B;B;B	0.17852	0.019;0.024;0.024	B;B;B	0.24974	0.034;0.057;0.052	T	0.56547	-0.7961	10	0.26408	T	0.33	-20.4302	16.5439	0.84409	0.0:0.0:0.0:1.0	.	359;310;353	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	V	353;310;359	ENSP00000258530:I353V;ENSP00000444472:I310V;ENSP00000446917:I359V	ENSP00000258530:I353V	I	-	1	0	APPL2	104113531	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.037000	0.64170	2.364000	0.80123	0.524000	0.50904	ATA		0.408	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		15	59	0	0	0	0	15	59				
TRPV4	59341	broad.mit.edu	37	12	110236702	110236702	+	Missense_Mutation	SNP	G	G	A	rs368937671		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:110236702G>A	ENST00000418703.2	-	5	963	c.869C>T	c.(868-870)tCg>tTg	p.S290L	TRPV4_ENST00000541794.1_Missense_Mutation_p.S243L|TRPV4_ENST00000392719.2_Missense_Mutation_p.S243L|TRPV4_ENST00000261740.2_Missense_Mutation_p.S290L|TRPV4_ENST00000537083.1_Missense_Mutation_p.S290L|TRPV4_ENST00000544971.1_Missense_Mutation_p.S243L|TRPV4_ENST00000346520.2_Missense_Mutation_p.S290L|TRPV4_ENST00000536838.1_Missense_Mutation_p.S256L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	290					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGCAGCCAGCGACAGGGGCAG	0.677																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(868-870)TCG>TTG		transient receptor potential cation channel,		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	43.0		728,767,728,869,869	4.4	1.0	12		43	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	145,145,145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	243/825,256/838,243/765,290/872,290/812	110236702	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236702G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.869C>T	12.37:g.110236702G>A	ENSP00000406191:p.Ser290Leu					TRPV4_uc001tpg.1_Missense_Mutation_p.S256L|TRPV4_uc001tph.1_Missense_Mutation_p.S243L|TRPV4_uc001tpi.1_Missense_Mutation_p.S243L|TRPV4_uc001tpk.1_Missense_Mutation_p.S290L|TRPV4_uc001tpl.1_Missense_Mutation_p.S290L	p.S290L	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			5	964	-			290			Cytoplasmic (Potential).|ANK 2.		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.869C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614632	0.87359	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.37	4.37	0.52481	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	L	0.46157	1.445	0.51233	D	0.999916	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.988;0.964;0.999	T	0.82123	-0.0613	10	0.87932	D	0	-11.3792	16.0511	0.80763	0.0:0.0:1.0:0.0	.	290;290;243;243;256	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	290;290;243;290;243;290;243;256	ENSP00000406191:S290L;ENSP00000261740:S290L;ENSP00000376480:S243L;ENSP00000319003:S290L;ENSP00000443611:S243L;ENSP00000442738:S290L;ENSP00000442167:S243L;ENSP00000444336:S256L	ENSP00000261740:S290L	S	-	2	0	TRPV4	108721085	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	9.156000	0.94705	2.435000	0.82474	0.655000	0.94253	TCG		0.677	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		13	58	0	0	0	0	13	58				
GCN1L1	10985	broad.mit.edu	37	12	120582810	120582810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:120582810G>A	ENST00000300648.6	-	40	5084	c.5072C>T	c.(5071-5073)tCg>tTg	p.S1691L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1691					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAAAGCACGACTCCCCCAT	0.592																																						uc001txo.2		NA																	0				ovary(4)	4						c.(5071-5073)TCG>TTG		GCN1 general control of amino-acid synthesis							84.0	90.0	88.0					12																	120582810		2173	4276	6449	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582810G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5072C>T	12.37:g.120582810G>A	ENSP00000300648:p.Ser1691Leu						p.S1691L	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			40	5085	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1691					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.5072C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873925	0.72180	.	.	ENSG00000089154	ENST00000300648	T	0.67171	-0.25	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.060417	0.64402	D	0.000002	T	0.67887	0.2941	L	0.59436	1.845	0.80722	D	1	P	0.43826	0.818	B	0.41946	0.371	T	0.69639	-0.5091	10	0.46703	T	0.11	-12.1747	19.7578	0.96301	0.0:0.0:1.0:0.0	.	1691	Q92616	GCN1L_HUMAN	L	1691	ENSP00000300648:S1691L	ENSP00000300648:S1691L	S	-	2	0	GCN1L1	119067193	1.000000	0.71417	0.964000	0.40570	0.938000	0.57974	6.235000	0.72332	2.748000	0.94277	0.655000	0.94253	TCG		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			10	91	0	0	0	0	10	91				
RSRC2	65117	broad.mit.edu	37	12	123001845	123001845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:123001845C>A	ENST00000331738.7	-	5	676	c.531G>T	c.(529-531)agG>agT	p.R177S	RSRC2_ENST00000354654.2_Missense_Mutation_p.R129S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	177	Ser-rich.						poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGGAACGAGACCTGATCCGCC	0.493																																						uc001ucr.2		NA																	0				ovary(1)	1						c.(529-531)AGG>AGT		arginine/serine-rich coiled-coil 2 isoform a							237.0	190.0	206.0					12																	123001845		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001845C>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.531G>T	12.37:g.123001845C>A	ENSP00000330188:p.Arg177Ser					RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R118S|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R129S|RSRC2_uc001ucu.2_Missense_Mutation_p.R177S	p.R177S	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	5	677	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		177			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.531G>T	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.280344|3.280344	0.59758|0.59758	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.60040|0.20738	0.22|2.4;2.05;2.05	5.48|5.48	-1.73|-1.73	0.08081|0.08081	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.24115|0.24115	0.695|0.695	0.45427|0.45427	D|D	0.998404|0.998404	.|D;D;D;D	.|0.57899	.|0.981;0.981;0.981;0.981	.|D;D;D;D	.|0.66351	.|0.943;0.943;0.943;0.943	T|T	0.02893|0.02893	-1.1097|-1.1097	7|10	0.87932|0.31617	D|T	0|0.26	.|.	7.9233|7.9233	0.29859|0.29859	0.0:0.2593:0.1065:0.6342|0.0:0.2593:0.1065:0.6342	.|.	.|177;129;177;118	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	V|S	71|177;129;177;118	ENSP00000446470:G71V|ENSP00000330188:R177S;ENSP00000346678:R129S;ENSP00000343315:R118S	ENSP00000446470:G71V|ENSP00000330188:R177S	G|R	-|-	2|3	0|2	RSRC2|RSRC2	121567798|121567798	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.946000|0.946000	0.59487|0.59487	0.854000|0.854000	0.27791|0.27791	-0.177000|-0.177000	0.10690|0.10690	-0.345000|-0.345000	0.07892|0.07892	GGT|AGG		0.493	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		23	123	1	0	3.6e-14	2.59e-13	23	123				
OR4M1	441670	broad.mit.edu	37	14	20248681	20248681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:20248681C>T	ENST00000315957.4	+	1	281	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	67						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(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTAATCTGGCCCTCCTTGAT	0.418																																						uc010tku.1		NA																	0					0						c.(199-201)GCC>GTC		olfactory receptor, family 4, subfamily M,							303.0	320.0	314.0					14																	20248681		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248681C>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.200C>T	14.37:g.20248681C>T	ENSP00000319654:p.Ala67Val						p.A67V	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	200	+	all_cancers(95;0.00108)		67			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.200C>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	17.92	3.507524	0.64410	.	.	ENSG00000176299	ENST00000315957	T	0.03152	4.03	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.11879	0.0289	M	0.77103	2.36	0.33456	D	0.584281	D	0.55172	0.97	P	0.51297	0.665	T	0.08700	-1.0709	10	0.87932	D	0	-11.0351	14.4139	0.67135	0.0:1.0:0.0:0.0	.	67	Q8NGD0	OR4M1_HUMAN	V	67	ENSP00000319654:A67V	ENSP00000319654:A67V	A	+	2	0	OR4M1	19318521	0.015000	0.18098	1.000000	0.80357	0.903000	0.53119	2.721000	0.47260	2.338000	0.79540	0.401000	0.26515	GCC		0.418	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			9	718	0	0	0	0	9	718				
HOMEZ	57594	broad.mit.edu	37	14	23746122	23746122	+	Silent	SNP	G	G	A	rs375408085		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:23746122G>A	ENST00000357460.5	-	2	479	c.315C>T	c.(313-315)gcC>gcT	p.A105A	HOMEZ_ENST00000561013.1_Silent_p.A107A|HOMEZ_ENST00000431326.2_Silent_p.A107A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGAGGCGCTGGGCCATAAACC	0.502																																						uc001wja.2		NA																	0					0						c.(313-315)GCC>GCT		homeodomain leucine zipper protein		G		0,3928		0,0,1964	187.0	182.0	184.0		315	4.3	1.0	14		184	3,8289		0,3,4143	no	coding-synonymous	HOMEZ	NM_020834.2		0,3,6107	AA,AG,GG		0.0362,0.0,0.0245		105/551	23746122	3,12217	1964	4146	6110	SO:0001819	synonymous_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746122G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.315C>T	14.37:g.23746122G>A						HOMEZ_uc001wjb.2_Silent_p.A107A	p.A105A	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	463	-	all_cancers(95;5.54e-06)		105			Homeobox 1.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	c.315C>T	CCDS45085.1																																																																																				0.502	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		33	201	0	0	0	0	33	201				
AP5M1	55745	broad.mit.edu	37	14	57747048	57747048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:57747048G>A	ENST00000261558.3	+	3	1262	c.856G>A	c.(856-858)Gat>Aat	p.D286N	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.D300N	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	286	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TAGTAGTATTGATGCAATGGA	0.423																																						uc001xcv.2		NA																	0				ovary(1)	1						c.(856-858)GAT>AAT		Mu-2 related death-inducing protein							233.0	205.0	215.0					14																	57747048		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57747048G>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.856G>A	14.37:g.57747048G>A	ENSP00000261558:p.Asp286Asn					MUDENG_uc010tri.1_Missense_Mutation_p.D40N|MUDENG_uc010trj.1_Missense_Mutation_p.D183N	p.D286N	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			3	1283	+			286			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.856G>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209781	0.58343	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.34667	1.35;1.35	6.03	6.03	0.97812	Clathrin adaptor, mu subunit, C-terminal (3);	0.194378	0.53938	D	0.000056	T	0.32852	0.0843	L	0.36672	1.1	0.54753	D	0.999985	B	0.17038	0.02	B	0.23574	0.047	T	0.03534	-1.1027	10	0.39692	T	0.17	.	15.6618	0.77193	0.0669:0.0:0.9331:0.0	.	286	Q9H0R1	MUDEN_HUMAN	N	286;300	ENSP00000261558:D286N;ENSP00000390531:D300N	ENSP00000261558:D286N	D	+	1	0	MUDENG	56816801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.433000	0.73404	2.861000	0.98227	0.655000	0.94253	GAT		0.423	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		56	127	0	0	0	0	56	127				
KIAA0586	9786	broad.mit.edu	37	14	58917303	58917303	+	Missense_Mutation	SNP	T	T	C	rs563531719		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:58917303T>C	ENST00000556134.1	+	9	1197	c.923T>C	c.(922-924)tTa>tCa	p.L308S	KIAA0586_ENST00000423743.3_Missense_Mutation_p.L279S|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.L376S|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L323S	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	308					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAGCACCTTTAAAAGAAGTT	0.308													T|||	1	0.000199681	0.0	0.0	5008	,	,		15384	0.0		0.0	False		,,,				2504	0.001					uc001xdv.3		NA																	0				ovary(1)	1						c.(967-969)TTA>TCA		talpid3 protein							37.0	37.0	37.0					14																	58917303		1788	4066	5854	SO:0001583	missense	9786							g.chr14:58917303T>C	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.923T>C	14.37:g.58917303T>C	ENSP00000452351:p.Leu308Ser					KIAA0586_uc010trr.1_Missense_Mutation_p.L364S|KIAA0586_uc001xdt.3_Missense_Mutation_p.L279S|KIAA0586_uc001xdu.3_Missense_Mutation_p.L308S|KIAA0586_uc010trs.1_Missense_Mutation_p.L238S|KIAA0586_uc010trt.1_Missense_Mutation_p.L183S|KIAA0586_uc010tru.1_Missense_Mutation_p.L183S	p.L323S	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			8	1241	+			323					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.968T>C	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	0.766	-0.767533	0.02974	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.98	2.8	0.32819	.	0.590066	0.14772	N	0.299357	T	0.16514	0.0397	N	0.03608	-0.345	0.09310	N	0.99999	B;B;B;B;B;B	0.16802	0.002;0.004;0.019;0.01;0.004;0.007	B;B;B;B;B;B	0.14578	0.003;0.003;0.011;0.005;0.01;0.01	T	0.28808	-1.0032	10	0.07813	T	0.8	.	7.7227	0.28742	0.0:0.6522:0.0:0.3478	.	183;183;376;323;308;279	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	S	376;308;279;323;183	ENSP00000346359:L376S;ENSP00000452351:L308S;ENSP00000399427:L279S;ENSP00000261244:L323S	ENSP00000261244:L323S	L	+	2	0	KIAA0586	57987056	.	.	0.032000	0.17829	0.120000	0.20174	.	.	0.477000	0.27464	0.460000	0.39030	TTA		0.308	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		11	38	0	0	0	0	11	38				
SYNE3	161176	broad.mit.edu	37	14	95921755	95921755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr14:95921755C>T	ENST00000334258.5	-	5	1110	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R	SYNE3_ENST00000554873.1_Missense_Mutation_p.G123R|SYNE3_ENST00000557275.1_Missense_Mutation_p.G366R|SYNE3_ENST00000553340.1_Missense_Mutation_p.G366R	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	366					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCCTCGGTCCCCGCTTTCGCC	0.652																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(1096-1098)GGG>AGG		nesprin-3							31.0	35.0	34.0					14																	95921755		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95921755C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1096G>A	14.37:g.95921755C>T	ENSP00000334308:p.Gly366Arg					C14orf49_uc010avi.2_Missense_Mutation_p.G366R|C14orf49_uc001yej.1_Missense_Mutation_p.G366R	p.G366R	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	1111	-		all_cancers(154;0.0937)	366			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1096G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.624838	0.00820	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.13307	3.61;2.6;3.61;3.01	4.99	1.59	0.23543	.	0.590344	0.14063	N	0.343915	T	0.04679	0.0127	N	0.05441	-0.05	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42666	-0.9438	10	0.07990	T	0.79	-26.0796	2.7792	0.05356	0.0:0.3251:0.2452:0.4297	.	366;366;366	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	R	366;123;366;366	ENSP00000334308:G366R;ENSP00000452154:G123R;ENSP00000450562:G366R;ENSP00000450774:G366R	ENSP00000334308:G366R	G	-	1	0	C14orf49	94991508	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-0.110000	0.10824	0.482000	0.27582	-0.463000	0.05309	GGG		0.652	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		17	55	0	0	0	0	17	55				
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Silent	SNP	C	C	T	rs561219457		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:43820775C>T	ENST00000300231.5	+	4	7554	c.7104C>T	c.(7102-7104)aaC>aaT	p.N2368N	MAP1A_ENST00000399453.1_Silent_p.N2368N|MAP1A_ENST00000382031.1_Silent_p.N2606N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2368					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCAGCCCTAACCCCCCAGGCC	0.642																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(7102-7104)AAC>AAT		microtubule-associated protein 1A	Estramustine(DB01196)						27.0	31.0	30.0					15																	43820775		1963	4133	6096	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820775C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7104C>T	15.37:g.43820775C>T							p.N2368N	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	7571	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2368					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7104C>T	CCDS42031.1																																																																																				0.642	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		7	29	0	0	0	0	7	29				
TEX9	374618	broad.mit.edu	37	15	56719929	56719929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr15:56719929A>G	ENST00000352903.2	+	11	1114	c.1090A>G	c.(1090-1092)Agg>Ggg	p.R364G	TEX9_ENST00000537232.1_Missense_Mutation_p.R289G|MNS1_ENST00000566386.1_Intron|TEX9_ENST00000560582.1_Intron	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	364										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTTTTAAAAAGGCAAAAGGT	0.244																																						uc002adp.2		NA																	0					0						c.(1090-1092)AGG>GGG		testis expressed 9							88.0	101.0	96.0					15																	56719929		2180	4265	6445	SO:0001583	missense	374618							g.chr15:56719929A>G	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.1090A>G	15.37:g.56719929A>G	ENSP00000342169:p.Arg364Gly					TEX9_uc010ugl.1_Missense_Mutation_p.R289G	p.R364G	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	11	1095	+			364					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.1090A>G	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784126	0.70222	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	D;D	0.81579	-1.51;-1.51	5.06	3.9	0.45041	.	0.039612	0.85682	D	0.000000	D	0.89417	0.6709	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89687	0.3895	10	0.87932	D	0	-10.3642	11.1032	0.48188	0.8446:0.1554:0.0:0.0	.	364	Q8N6V9	TEX9_HUMAN	G	364;289	ENSP00000342169:R364G;ENSP00000438745:R289G	ENSP00000342169:R364G	R	+	1	2	TEX9	54507221	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.592000	0.74095	0.836000	0.34901	0.477000	0.44152	AGG		0.244	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		3	165	0	0	0	0	3	165				
PKD1	5310	broad.mit.edu	37	16	2158447	2158447	+	Missense_Mutation	SNP	G	G	C	rs574203747		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:2158447G>C	ENST00000262304.4	-	15	6929	c.6721C>G	c.(6721-6723)Ctg>Gtg	p.L2241V	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.L2241V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2241	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCTGTGTCAGTGGCGTGTCC	0.652													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14037	0.0		0.0	False		,,,				2504	0.0					uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(6721-6723)CTG>GTG		polycystin 1 isoform 1 precursor							54.0	52.0	53.0					16																	2158447		2192	4290	6482	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158447G>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6721C>G	16.37:g.2158447G>C	ENSP00000262304:p.Leu2241Val					PKD1_uc002cot.1_Missense_Mutation_p.L2241V	p.L2241V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6930	-			2241			Extracellular (Potential).|REJ.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6721C>G	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	11.26	1.586681	0.28268	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.73897	-0.79;-0.79	5.35	0.622	0.17648	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	0.000000	0.64402	D	0.000003	T	0.81898	0.4920	M	0.71206	2.165	0.41338	D	0.987287	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77638	-0.2513	10	0.31617	T	0.26	.	11.1311	0.48347	0.1979:0.0:0.8021:0.0	.	2241;2241	P98161-3;P98161	.;PKD1_HUMAN	V	2241;2241;1592;520	ENSP00000262304:L2241V;ENSP00000399501:L2241V	ENSP00000262304:L2241V	L	-	1	2	PKD1	2098448	1.000000	0.71417	0.038000	0.18304	0.216000	0.24613	3.761000	0.55242	-0.108000	0.12066	-0.318000	0.08688	CTG		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			13	61	0	0	0	0	13	61				
MMP15	4324	broad.mit.edu	37	16	58074525	58074525	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:58074525C>T	ENST00000219271.3	+	5	1618	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	278					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	GCCATCATGGCGCCGTTCTAC	0.612																																						uc002ena.2		NA																	0				central_nervous_system(2)|breast(1)	3						c.(832-834)GCG>GTG		matrix metalloproteinase 15 preproprotein							111.0	91.0	98.0					16																	58074525		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58074525C>T	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.833C>T	16.37:g.58074525C>T	ENSP00000219271:p.Ala278Val						p.A278V	NM_002428	NP_002419	P51511	MMP15_HUMAN			5	1806	+			278			Extracellular (Potential).		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.833C>T	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758293	0.89843	.	.	ENSG00000102996	ENST00000219271	T	0.23754	1.89	5.17	5.17	0.71159	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.107029	0.64402	D	0.000006	T	0.59878	0.2226	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64943	-0.6288	10	0.33141	T	0.24	.	17.6579	0.88183	0.0:1.0:0.0:0.0	.	278	P51511	MMP15_HUMAN	V	278	ENSP00000219271:A278V	ENSP00000219271:A278V	A	+	2	0	MMP15	56632026	1.000000	0.71417	0.946000	0.38457	0.775000	0.43874	7.818000	0.86416	2.421000	0.82119	0.563000	0.77884	GCG		0.612	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		33	72	0	0	0	0	33	72				
SF3B3	23450	broad.mit.edu	37	16	70597896	70597896	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70597896G>A	ENST00000302516.5	+	18	2617	c.2406G>A	c.(2404-2406)acG>acA	p.T802T		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	802					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCATTGAAACGGACCACAATG	0.463																																						uc002ezf.2		NA																	0				ovary(1)	1						c.(2404-2406)ACG>ACA		splicing factor 3b, subunit 3							151.0	131.0	138.0					16																	70597896		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70597896G>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2406G>A	16.37:g.70597896G>A							p.T802T	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			18	2617	+		Ovarian(137;0.0694)	802					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.2406G>A	CCDS10894.1																																																																																				0.463	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		14	89	0	0	0	0	14	89				
MTSS1L	92154	broad.mit.edu	37	16	70698642	70698642	+	Missense_Mutation	SNP	C	C	T	rs149700961		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:70698642C>T	ENST00000338779.6	-	14	1604	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	444					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						AGGTCACTGGCGGCGGGGGAC	0.672																																						uc002ezj.2		NA																	0				central_nervous_system(1)	1						c.(1330-1332)GCC>ACC		metastasis suppressor 1-like		C	THR/ALA	0,4396		0,0,2198	30.0	27.0	28.0		1330	3.9	0.8	16	dbSNP_134	28	1,8597	1.2+/-3.3	0,1,4298	no	missense	MTSS1L	NM_138383.2	58	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	444/748	70698642	1,12993	2198	4299	6497	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698642C>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1330G>A	16.37:g.70698642C>T	ENSP00000341171:p.Ala444Thr						p.A444T	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN			14	1590	-			444					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1330G>A	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166906	0.38217	0.0	1.16E-4	ENSG00000132613	ENST00000338779	T	0.32988	1.43	4.89	3.94	0.45596	.	0.380763	0.28914	N	0.013723	T	0.28797	0.0714	M	0.63428	1.95	0.44359	D	0.997256	B	0.13145	0.007	B	0.06405	0.002	T	0.07908	-1.0748	10	0.12430	T	0.62	-15.6338	12.6675	0.56849	0.0:0.9182:0.0:0.0818	.	444	Q765P7	MTSSL_HUMAN	T	444	ENSP00000341171:A444T	ENSP00000341171:A444T	A	-	1	0	MTSS1L	69256143	1.000000	0.71417	0.783000	0.31826	0.191000	0.23601	7.768000	0.85345	1.044000	0.40200	0.462000	0.41574	GCC		0.672	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		7	19	0	0	0	0	7	19				
KCNG4	93107	broad.mit.edu	37	16	84270386	84270386	+	Missense_Mutation	SNP	C	C	T	rs138891680	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr16:84270386C>T	ENST00000308251.4	-	2	774	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	KCNG4_ENST00000568181.1_Missense_Mutation_p.V236I	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	236					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACAGGCTGACGGCTGTGGTG	0.657													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		13996	0.0		0.0	False		,,,				2504	0.0					uc010voc.1		NA																	0				breast(3)	3						c.(706-708)GTC>ATC		potassium voltage-gated channel, subfamily G,		C	ILE/VAL	10,4390	16.8+/-37.8	0,10,2190	36.0	35.0	35.0		706	3.1	0.9	16	dbSNP_134	35	0,8600		0,0,4300	yes	missense	KCNG4	NM_172347.2	29	0,10,6490	TT,TC,CC		0.0,0.2273,0.0769	benign	236/520	84270386	10,12990	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270386C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.706G>A	16.37:g.84270386C>T	ENSP00000312129:p.Val236Ile					KCNG4_uc002fhu.1_Missense_Mutation_p.V236I	p.V236I	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	827	-			236					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.706G>A	CCDS10945.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.559	0.877233	0.17395	0.002273	0.0	ENSG00000168418	ENST00000308251	D	0.97404	-4.37	5.11	3.14	0.36123	.	0.327658	0.31279	N	0.007932	D	0.90686	0.7078	N	0.21194	0.64	0.29444	N	0.858968	B;B	0.29378	0.167;0.243	B;B	0.24394	0.053;0.028	T	0.82684	-0.0335	10	0.08179	T	0.78	.	8.7155	0.34408	0.0:0.6926:0.0:0.3074	.	236;236	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	I	236	ENSP00000312129:V236I	ENSP00000312129:V236I	V	-	1	0	KCNG4	82827887	0.076000	0.21285	0.930000	0.37139	0.849000	0.48306	0.440000	0.21592	1.144000	0.42321	-0.275000	0.10095	GTC		0.657	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		19	21	0	0	0	0	19	21				
KCNJ12	3768	broad.mit.edu	37	17	21318845	21318845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:21318845C>T	ENST00000583088.1	+	3	1086	c.191C>T	c.(190-192)tCa>tTa	p.S64L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S64L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	64					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GACGAGAAGTCACAGCGCTAC	0.592										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(190-192)TCA>TTA		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						216.0	139.0	165.0					17																	21318845		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318845C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.191C>T	17.37:g.21318845C>T	ENSP00000463778:p.Ser64Leu	Prostate(3;0.18)					p.S64L	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	896	+			64			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.191C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616266	0.87359	.	.	ENSG00000184185	ENST00000331718	D	0.94793	-3.52	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.649271	0.15587	N	0.254608	D	0.95408	0.8509	M	0.72118	2.19	0.50467	D	0.99987	P	0.39131	0.661	P	0.44647	0.456	D	0.95265	0.8372	10	0.59425	D	0.04	.	19.026	0.92932	0.0:1.0:0.0:0.0	.	64	Q14500	IRK12_HUMAN	L	64	ENSP00000328150:S64L	ENSP00000328150:S64L	S	+	2	0	KCNJ12	21259438	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	4.837000	0.62796	2.506000	0.84524	0.591000	0.81541	TCA		0.592	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	66	0	0	0	0	5	66				
DDX52	11056	broad.mit.edu	37	17	35981216	35981216	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:35981216T>C	ENST00000349699.2	-	11	1500	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	DDX52_ENST00000394367.3_Missense_Mutation_p.N378S	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	486	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AAAGTCATAGTTGATCACCAA	0.433																																						uc002hoi.1		NA																	0				ovary(1)|skin(1)	2						c.(1456-1458)AAC>AGC		ATP-dependent RNA helicase ROK1 isoform a							115.0	110.0	112.0					17																	35981216		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35981216T>C	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1457A>G	17.37:g.35981216T>C	ENSP00000268854:p.Asn486Ser					DDX52_uc002hoh.1_Missense_Mutation_p.N378S	p.N486S	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			11	1495	-		Breast(25;0.00637)|Ovarian(249;0.15)	486			Helicase C-terminal.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.1457A>G	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537404	0.85917	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.05649	3.41;3.41	5.6	5.6	0.85130	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.88105	2.93	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.17501	-1.0367	10	0.87932	D	0	.	14.9632	0.71171	0.0:0.0:0.0:1.0	.	486	Q9Y2R4	DDX52_HUMAN	S	486;378	ENSP00000268854:N486S;ENSP00000377893:N378S	ENSP00000268854:N486S	N	-	2	0	DDX52	33055329	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.317000	0.65822	2.129000	0.65627	0.528000	0.53228	AAC		0.433	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		17	26	0	0	0	0	17	26				
CNTNAP1	8506	broad.mit.edu	37	17	40847683	40847683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:40847683C>T	ENST00000264638.4	+	19	3354	c.3137C>T	c.(3136-3138)cCg>cTg	p.P1046L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1046					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGATACTCCGGGCTATGTG	0.657																																						uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(3136-3138)CCG>CTG		contactin associated protein 1 precursor							43.0	44.0	44.0					17																	40847683		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847683C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3137C>T	17.37:g.40847683C>T	ENSP00000264638:p.Pro1046Leu					CNTNAP1_uc010wgs.1_RNA	p.P1046L	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3353	+		Breast(137;0.000143)	1046			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.3137C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171190	0.38315	.	.	ENSG00000108797	ENST00000264638	D	0.90385	-2.66	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);	0.119971	0.38326	N	0.001721	T	0.78528	0.4297	N	0.08118	0	0.44149	D	0.996944	B	0.12013	0.005	B	0.06405	0.002	T	0.73100	-0.4089	10	0.10377	T	0.69	.	12.0041	0.53248	0.0:0.9208:0.0:0.0792	.	1046	P78357	CNTP1_HUMAN	L	1046	ENSP00000264638:P1046L	ENSP00000264638:P1046L	P	+	2	0	CNTNAP1	38101209	0.743000	0.28239	0.983000	0.44433	0.802000	0.45316	2.220000	0.42908	2.577000	0.86979	0.655000	0.94253	CCG		0.657	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		15	56	0	0	0	0	15	56				
SMG8	55181	broad.mit.edu	37	17	57287434	57287434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:57287434C>T	ENST00000543872.2	+	2	286	c.22C>T	c.(22-24)Cga>Tga	p.R8*	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Nonsense_Mutation_p.R8*|SMG8_ENST00000578922.1_Nonsense_Mutation_p.R8*			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	8					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CGTGAGCTTGCGAGACCTTCT	0.597																																						uc002ixi.2		NA																	0					0						c.(22-24)CGA>TGA		SMG8 protein							29.0	34.0	32.0					17																	57287434		2203	4300	6503	SO:0001587	stop_gained	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57287434C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.22C>T	17.37:g.57287434C>T	ENSP00000438748:p.Arg8*						p.R8*	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			1	64	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		8					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	ENST00000543872.2	37	c.22C>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469883	0.63625	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.15	3.07	0.35406	.	0.207202	0.33959	N	0.004393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5939	11.941	0.52901	0.3304:0.6696:0.0:0.0	.	.	.	.	X	8	.	ENSP00000300917:R8X	R	+	1	2	SMG8	54642216	0.997000	0.39634	0.969000	0.41365	0.123000	0.20343	1.159000	0.31749	0.759000	0.33084	0.650000	0.86243	CGA		0.597	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		9	13	0	0	0	0	9	13				
PTPRM	5797	broad.mit.edu	37	18	8379226	8379226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:8379226G>A	ENST00000332175.8	+	26	4672	c.3635G>A	c.(3634-3636)cGg>cAg	p.R1212Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.R1150Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.R999Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1226Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1225Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1212	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				CTGTTGCCCCGGAACCATGAG	0.547																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3634-3636)CGG>CAG		protein tyrosine phosphatase, receptor type, M							134.0	105.0	115.0					18																	8379226		2203	4300	6503	SO:0001583	missense	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.chr18:8379226G>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.3635G>A	18.37:g.8379226G>A	ENSP00000331418:p.Arg1212Gln					PTPRM_uc010dkv.2_Missense_Mutation_p.R1225Q|PTPRM_uc010wzl.1_Missense_Mutation_p.R999Q	p.R1212Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN			26	4138	+		Colorectal(10;0.234)	1212			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3635G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	37	6.290836	0.97449	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.991;0.978;0.978	T	0.00189	-1.1939	10	0.25751	T	0.34	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	999;1225;1212	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1212;1226;1150;999	ENSP00000331418:R1212Q;ENSP00000382933:R1226Q;ENSP00000382927:R1150Q;ENSP00000387608:R999Q	ENSP00000331418:R1212Q	R	+	2	0	PTPRM	8369226	1.000000	0.71417	0.993000	0.49108	0.850000	0.48378	8.031000	0.88826	2.941000	0.99782	0.655000	0.94253	CGG		0.547	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			18	102	0	0	0	0	18	102				
EPG5	57724	broad.mit.edu	37	18	43467768	43467768	+	Missense_Mutation	SNP	C	C	T	rs375463159		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:43467768C>T	ENST00000282041.5	-	29	5091	c.5057G>A	c.(5056-5058)cGt>cAt	p.R1686H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1686					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGGGGATGACGCTGCGTCTC	0.448																																						uc002lbm.2		NA																	0					0						c.(5056-5058)CGT>CAT		hypothetical protein LOC57724		C	HIS/ARG	0,3944		0,0,1972	152.0	143.0	146.0		5057	6.0	1.0	18		146	1,8337		0,1,4168	no	missense	EPG5	NM_020964.2	29	0,1,6140	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1686/2580	43467768	1,12281	1972	4169	6141	SO:0001583	missense	57724				autophagy			g.chr18:43467768C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5057G>A	18.37:g.43467768C>T	ENSP00000282041:p.Arg1686His					KIAA1632_uc010xcq.1_Missense_Mutation_p.R240H|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R561H	p.R1686H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			29	5157	-			1686					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5057G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162266	0.94727	0.0	1.2E-4	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10860	2.83	6.02	6.02	0.97574	.	.	.	.	.	T	0.33818	0.0876	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00121	-1.2029	9	0.44086	T	0.13	-11.6541	20.547	0.99278	0.0:1.0:0.0:0.0	.	1686	Q9HCE0	EPG5_HUMAN	H	1686;561	ENSP00000282041:R1686H	ENSP00000282041:R1686H	R	-	2	0	EPG5	41721766	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.625000	0.83145	2.850000	0.98022	0.650000	0.86243	CGT		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	79	0	0	0	0	16	79				
ELAC1	55520	broad.mit.edu	37	18	48500811	48500811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr18:48500811G>A	ENST00000269466.3	+	2	144	c.37G>A	c.(37-39)Gca>Aca	p.A13T	RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.A13T|ELAC1_ENST00000591429.1_Missense_Mutation_p.A13T|SMAD4_ENST00000452201.2_5'UTR|ELAC1_ENST00000588577.1_Missense_Mutation_p.A13T|RP11-729L2.2_ENST00000588256.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	13					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		GACGGGTGCAGCATACCCATC	0.507																																						uc002lez.2		NA																	0					0						c.(37-39)GCA>ACA		elaC homolog 1							170.0	144.0	153.0					18																	48500811		2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48500811G>A	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.37G>A	18.37:g.48500811G>A	ENSP00000269466:p.Ala13Thr					ELAC1_uc010dpe.2_Missense_Mutation_p.A13T|SMAD4_uc010xdo.1_RNA	p.A13T	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	2	143	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	13					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.37G>A	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644548	0.96704	.	.	ENSG00000141642	ENST00000269466	T	0.45276	0.9	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.72624	2.21	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.925	T	0.65837	-0.6071	10	0.87932	D	0	.	19.1473	0.93473	0.0:0.0:1.0:0.0	.	13;13	Q53EY2;Q9H777	.;RNZ1_HUMAN	T	13	ENSP00000269466:A13T	ENSP00000269466:A13T	A	+	1	0	ELAC1	46754809	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.386000	0.97228	2.826000	0.97356	0.650000	0.86243	GCA		0.507	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			9	50	0	0	0	0	9	50				
ATP5D	513	broad.mit.edu	37	19	1244103	1244103	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:1244103C>T	ENST00000215375.2	+	3	404	c.303C>T	c.(301-303)agC>agT	p.S101S	ATP5D_ENST00000395633.1_Silent_p.S101S|ATP5D_ENST00000591660.1_Silent_p.S101S	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	101					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGTGAGCAGCGGTTCCATCG	0.647											OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lrn.2		NA																	0					0						c.(301-303)AGC>AGT		ATP synthase, H+ transporting, mitochondrial F1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						34.0	28.0	30.0					19																	1244103		2202	4297	6499	SO:0001819	synonymous_variant	513				mitochondrial ATP synthesis coupled proton transport|oxidative phosphorylation|respiratory electron transport chain|response to copper ion	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr19:1244103C>T	X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.303C>T	19.37:g.1244103C>T			OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	594	ATP5D_uc002lro.2_Silent_p.S101S	p.S101S	NM_001001975	NP_001001975	P30049	ATPD_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	404	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	101					D6W5Y3|Q6FG90	Silent	SNP	ENST00000215375.2	37	c.303C>T	CCDS12058.1																																																																																				0.647	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449958.1	NM_001687		3	5	0	0	0	0	3	5				
PLEKHJ1	55111	broad.mit.edu	37	19	2234193	2234193	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:2234193G>A	ENST00000589097.1	-	5	1389	c.276C>T	c.(274-276)agC>agT	p.S92S	MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000587962.2_Silent_p.S92S|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000591099.2_Intron|PLEKHJ1_ENST00000587394.2_Silent_p.S92S|PLEKHJ1_ENST00000586608.2_Intron|SF3A2_ENST00000221494.5_5'Flank|PLEKHJ1_ENST00000326631.2_Silent_p.S92S			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.S92R(1)		endometrium(1)|kidney(1)	2				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)		ACTGCTCCTCGCTGCTGCACT	0.632																																						uc002lvf.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(274-276)AGC>AGT		pleckstrin homology domain containing, family J							78.0	67.0	71.0					19																	2234193		2203	4300	6503	SO:0001819	synonymous_variant	55111						protein binding	g.chr19:2234193G>A	AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"""Pleckstrin homology (PH) domain containing"""	18211	protein-coding gene	gene with protein product	"""guanine nucleotide releasing protein x"""					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.276C>T	19.37:g.2234193G>A						MIR1227_hsa-mir-1227|MI0006316_5'Flank|SF3A2_uc002lvg.2_5'Flank	p.S92S	NM_018049	NP_060519	Q9NW61	PKHJ1_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)	4	357	-			92			PH.		B3KUQ9|D6W604	Silent	SNP	ENST00000589097.1	37	c.276C>T	CCDS12083.1																																																																																				0.632	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		13	60	0	0	0	0	13	60				
MUC16	94025	broad.mit.edu	37	19	9088852	9088852	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:9088852G>T	ENST00000397910.4	-	1	3166	c.2963C>A	c.(2962-2964)tCt>tAt	p.S988Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	988	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGTGGCAGAGGTTGAAAC	0.463																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2962-2964)TCT>TAT		mucin 16							267.0	253.0	257.0					19																	9088852		1990	4159	6149	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088852G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2963C>A	19.37:g.9088852G>T	ENSP00000381008:p.Ser988Tyr						p.S988Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3167	-			988			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2963C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.286	-0.363587	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.27	0.18	0.15068	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.47603	0.551	T	0.46105	-0.9215	8	0.87932	D	0	.	3.364	0.07197	0.2886:0.0:0.7114:0.0	.	988	B5ME49	.	Y	988	ENSP00000381008:S988Y	ENSP00000381008:S988Y	S	-	2	0	MUC16	8949852	0.002000	0.14202	0.002000	0.10522	0.229000	0.25112	0.921000	0.28718	0.093000	0.17368	0.205000	0.17691	TCT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		55	241	1	0	1.19e-26	8.62e-26	55	241				
CACNA1A	773	broad.mit.edu	37	19	13395974	13395974	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:13395974C>T	ENST00000360228.5	-	21	3599	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	CACNA1A_ENST00000573710.2_Silent_p.E1201E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1201					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	cctccttcttctcttcctctt	0.527																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(3601-3603)GAG>GAA		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						78.0	84.0	82.0					19																	13395974		1906	4120	6026	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13395974C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3600G>A	19.37:g.13395974C>T						CACNA1A_uc010dzc.2_Silent_p.E726E|CACNA1A_uc002mwy.3_Silent_p.E1200E|CACNA1A_uc010xne.1_Silent_p.E729E	p.E1201E	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		21	3839	-			1201			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.3603G>A	CCDS45998.1																																																																																				0.527	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		28	43	0	0	0	0	28	43				
TMEM59L	25789	broad.mit.edu	37	19	18729231	18729231	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:18729231T>C	ENST00000600490.1	+	8	1014	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S277P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	277						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CCTCTTCCTCTCCGTGCTGGT	0.697																																						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(829-831)TCC>CCC		brain-specific membrane-anchored protein							28.0	24.0	25.0					19																	18729231		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729231T>C	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.829T>C	19.37:g.18729231T>C	ENSP00000470879:p.Ser277Pro						p.S277P	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			7	916	+			277			Helical; (Potential).			Missense_Mutation	SNP	ENST00000600490.1	37	c.829T>C	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006835	0.74932	.	.	ENSG00000105696	ENST00000262817	T	0.61392	0.11	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75102	-0.3436	10	0.66056	D	0.02	-24.3247	12.2229	0.54443	0.0:0.0:0.0:1.0	.	277	Q9UK28	TM59L_HUMAN	P	277	ENSP00000262817:S277P	ENSP00000262817:S277P	S	+	1	0	TMEM59L	18590231	1.000000	0.71417	0.598000	0.28837	0.855000	0.48748	7.201000	0.77847	1.664000	0.50801	0.459000	0.35465	TCC		0.697	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			3	26	0	0	0	0	3	26				
ZNF14	7561	broad.mit.edu	37	19	19823301	19823301	+	Silent	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:19823301G>T	ENST00000344099.3	-	4	927	c.789C>A	c.(787-789)ccC>ccA	p.P263P		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GAAAGTATGTGGGACAACTGA	0.388																																						uc002nnk.1		NA																	0				ovary(3)	3						c.(787-789)CCC>CCA		zinc finger protein 14							53.0	52.0	53.0					19																	19823301		2203	4300	6503	SO:0001819	synonymous_variant	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823301G>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.789C>A	19.37:g.19823301G>T							p.P263P	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	943	-		Renal(1328;0.0474)	263			C2H2-type 6.		B9EGA4|Q9ULZ5	Silent	SNP	ENST00000344099.3	37	c.789C>A	CCDS12409.1																																																																																				0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	67	1	0	0.00116845	0.00770497	5	67				
RYR1	6261	broad.mit.edu	37	19	38980889	38980889	+	Silent	SNP	C	C	T	rs193922787		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:38980889C>T	ENST00000359596.3	+	36	5988	c.5988C>T	c.(5986-5988)cgC>cgT	p.R1996R	RYR1_ENST00000360985.3_Silent_p.R1996R|RYR1_ENST00000355481.4_Silent_p.R1996R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1996	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACGTACCCGCGAGTTCCGCT	0.572																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5986-5988)CGC>CGT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						50.0	48.0	49.0					19																	38980889		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38980889C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5988C>T	19.37:g.38980889C>T						RYR1_uc002oiu.2_Silent_p.R1996R	p.R1996R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		36	6118	+	all_cancers(60;7.91e-06)		1996			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5988C>T	CCDS33011.1																																																																																				0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			14	29	0	0	0	0	14	29				
PSG8	440533	broad.mit.edu	37	19	43258661	43258661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:43258661G>A	ENST00000306511.4	-	5	1164	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	PSG8_ENST00000401467.2_Missense_Mutation_p.A263V|PSG8_ENST00000406636.3_Missense_Mutation_p.A234V|PSG8_ENST00000404209.4_Missense_Mutation_p.A356V|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAGAGTCCGCAGAACAGGA	0.453																																						uc002ouo.2		NA																	0					0						c.(1066-1068)GCG>GTG		pregnancy specific beta-1-glycoprotein 8 isoform							121.0	135.0	130.0					19																	43258661		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43258661G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1067C>T	19.37:g.43258661G>A	ENSP00000305005:p.Ala356Val					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.A195V|PSG8_uc002ouh.2_Missense_Mutation_p.A356V|PSG8_uc010ein.2_Missense_Mutation_p.A234V|PSG8_uc002ouj.3_Missense_Mutation_p.A138V|PSG8_uc002ouk.3_Missense_Mutation_p.A195V|PSG8_uc002oul.3_Missense_Mutation_p.A356V|PSG8_uc002oum.3_Missense_Mutation_p.A263V|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.A263V	p.A356V	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			5	1165	-		Prostate(69;0.00899)	356			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1067C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.295	1.051729	0.19827	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	1.38	1.38	0.22167	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25791	0.0628	L	0.53561	1.675	0.09310	N	1	P;D;P;B;B;B	0.67145	0.76;0.996;0.564;0.32;0.331;0.382	B;D;B;P;B;B	0.67900	0.312;0.954;0.274;0.475;0.117;0.187	T	0.05484	-1.0882	9	0.62326	D	0.03	.	6.1171	0.20132	0.0:0.0:1.0:0.0	.	234;263;356;263;356;356	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	V	356;138;234;263;168;263;356	ENSP00000385869:A356V;ENSP00000385081:A234V;ENSP00000386090:A263V;ENSP00000305005:A356V	ENSP00000292109:A138V	A	-	2	0	PSG8	47950501	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.897000	0.28390	0.731000	0.32448	0.298000	0.19748	GCG		0.453	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			53	237	0	0	0	0	53	237				
BAX	581	broad.mit.edu	37	19	49458947	49458947	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49458947C>T	ENST00000345358.7	+	3	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F	BAX_ENST00000415969.2_Silent_p.F30F|BAX_ENST00000354470.3_Intron|BAX_ENST00000391871.3_Missense_Mutation_p.S13L|BAX_ENST00000539787.1_Silent_p.F30F|BAX_ENST00000293288.8_Silent_p.F30F	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	30					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACTCTAGTTTCATCCAGGATC	0.582																																						uc002plk.2		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(88-90)TTC>TTT		BCL2-associated X protein isoform alpha							79.0	72.0	75.0					19																	49458947		2203	4300	6503	SO:0001819	synonymous_variant	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49458947C>T		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.90C>T	19.37:g.49458947C>T						BAX_uc002plf.1_Silent_p.F30F|BAX_uc002plg.1_5'UTR|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.F30F|BAX_uc002pll.2_Intron|BAX_uc002plm.2_Intron	p.F30F	NM_138761	NP_620116	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	3	159	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	30					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Silent	SNP	ENST00000345358.7	37	c.90C>T	CCDS12742.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088316	0.36855	.	.	ENSG00000087088	ENST00000391871	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	T	0.47414	0.1444	.	.	.	0.25021	N	0.99134	.	.	.	.	.	.	T	0.40683	-0.9550	5	0.87932	D	0	.	11.4479	0.50134	0.0:1.0:0.0:0.0	.	.	.	.	L	13	.	ENSP00000375744:S13L	S	+	2	0	BAX	54150759	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.735000	0.38176	2.428000	0.82296	0.557000	0.71058	TCA		0.582	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763		11	75	0	0	0	0	11	75				
ALDH16A1	126133	broad.mit.edu	37	19	49962338	49962338	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:49962338G>A	ENST00000293350.4	+	3	478	c.315G>A	c.(313-315)ctG>ctA	p.L105L	ALDH16A1_ENST00000598015.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.L105L|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	105						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCAGCACCTGACCAGGTGAT	0.642																																						uc002pnt.2		NA																	0				skin(1)	1						c.(313-315)CTG>CTA		aldehyde dehydrogenase 16 family, member A1							33.0	38.0	36.0					19																	49962338		2203	4296	6499	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49962338G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.315G>A	19.37:g.49962338G>A						ALDH16A1_uc010yar.1_Silent_p.L105L|ALDH16A1_uc010yas.1_Intron|ALDH16A1_uc010yat.1_Intron	p.L105L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	3	431	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	105					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.315G>A	CCDS12766.1																																																																																				0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		14	94	0	0	0	0	14	94				
ZNF610	162963	broad.mit.edu	37	19	52869877	52869877	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:52869877A>T	ENST00000403906.3	+	6	1702	c.1246A>T	c.(1246-1248)Acc>Tcc	p.T416S	ZNF610_ENST00000327920.8_Missense_Mutation_p.T416S|ZNF610_ENST00000601151.1_Missense_Mutation_p.T373S|ZNF610_ENST00000321287.8_Missense_Mutation_p.T416S	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					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(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATTATACCTAACCAACCATCA	0.423																																						uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1246-1248)ACC>TCC		zinc finger protein 610 isoform a							60.0	57.0	58.0					19																	52869877		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869877A>T	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1246A>T	19.37:g.52869877A>T	ENSP00000383922:p.Thr416Ser					ZNF610_uc002pyy.3_Missense_Mutation_p.T416S|ZNF610_uc002pyz.3_Missense_Mutation_p.T373S|ZNF610_uc002pza.2_Missense_Mutation_p.T416S	p.T416S	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	1652	+			416			C2H2-type 8.		A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1246A>T	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453812	0.26161	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07216	3.21;3.21	1.71	-1.19	0.09585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.04686	-0.185	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.41840	-0.9486	9	0.37606	T	0.19	.	3.07	0.06227	0.4589:0.2312:0.3099:0.0	.	373;416	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	S	416;373;416	ENSP00000383922:T416S;ENSP00000327597:T416S	ENSP00000324441:T373S	T	+	1	0	ZNF610	57561689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.192000	0.00277	-0.626000	0.05596	0.383000	0.25322	ACC		0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		11	53	0	0	0	0	11	53				
CACNG7	59284	broad.mit.edu	37	19	54416119	54416119	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:54416119C>T	ENST00000391767.1	+	2	246	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CACNG7_ENST00000222212.2_Silent_p.L12L|CACNG7_ENST00000391766.1_Silent_p.L12L|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	12					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCTGACCCTGCTGAGCAGCGT	0.632																																						uc002qcr.1		NA																	0				ovary(1)	1						c.(34-36)CTG>TTG		voltage-dependent calcium channel gamma-7							59.0	48.0	52.0					19																	54416119		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54416119C>T	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.34C>T	19.37:g.54416119C>T						CACNG7_uc010era.1_Silent_p.L12L	p.L12L	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	1	49	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		12			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.34C>T	CCDS12868.1																																																																																				0.632	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			7	41	0	0	0	0	7	41				
NLRP11	204801	broad.mit.edu	37	19	56300195	56300195	+	Missense_Mutation	SNP	C	C	G	rs562593953		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:56300195C>G	ENST00000589093.1	-	9	2926	c.2833G>C	c.(2833-2835)Gat>Cat	p.D945H	NLRP11_ENST00000443188.1_Missense_Mutation_p.D945H|NLRP11_ENST00000592953.1_Missense_Mutation_p.D846H|NLRP11_ENST00000360133.3_Missense_Mutation_p.D891H|NLRP11_ENST00000589824.2_Missense_Mutation_p.D891H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	945							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTACACAATCTGGGCTGATC	0.353																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2833-2835)GAT>CAT		NLR family, pyrin domain containing 11							112.0	101.0	105.0					19																	56300195		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300195C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2833G>C	19.37:g.56300195C>G	ENSP00000466285:p.Asp945His					NLRP11_uc002qlz.2_Missense_Mutation_p.D792H|NLRP11_uc002qmb.2_Missense_Mutation_p.D846H|NLRP11_uc002qmc.2_RNA	p.D945H	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	11	3544	-		Colorectal(82;0.0002)	945					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2833G>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626805	0.28978	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.46819	0.86;0.86	2.63	-4.33	0.03677	.	.	.	.	.	T	0.33702	0.0872	N	0.10733	0.035	0.09310	N	1	D;D	0.53462	0.96;0.957	P;P	0.58172	0.687;0.834	T	0.21449	-1.0245	9	0.42905	T	0.14	.	3.8871	0.09103	0.1839:0.2615:0.0:0.5546	.	945;891	P59045;P59045-2	NAL11_HUMAN;.	H	945;891	ENSP00000409898:D945H;ENSP00000353251:D891H	ENSP00000353251:D891H	D	-	1	0	NLRP11	60992007	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.417000	0.07088	-0.937000	0.03719	-1.266000	0.01441	GAT		0.353	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		11	50	0	0	0	0	11	50				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					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.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NA																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		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.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	13	1	0	0.000602214	0.0039904	4	13				
ZNF329	79673	broad.mit.edu	37	19	58639337	58639337	+	Missense_Mutation	SNP	G	G	A	rs368309022		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:58639337G>A	ENST00000598312.1	-	4	1767	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	ZNF329_ENST00000358067.4_Missense_Mutation_p.R512W	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	512					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(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGAGGACACCGGCTGGGACCC	0.507																																						uc002qrn.2		NA																	0				skin(1)	1						c.(1534-1536)CGG>TGG		zinc finger protein 329		G	TRP/ARG	0,4406		0,0,2203	158.0	151.0	153.0		1534	4.3	1.0	19		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF329	NM_024620.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	512/542	58639337	1,13005	2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639337G>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1534C>T	19.37:g.58639337G>A	ENSP00000470008:p.Arg512Trp					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.R512W	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1771	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	512			C2H2-type 12.		B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1534C>T	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699741	0.30142	0.0	1.16E-4	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.54279	0.58;0.58	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.651527	0.12774	N	0.440255	T	0.56307	0.1976	L	0.52573	1.65	0.09310	N	1	P	0.39157	0.662	B	0.43360	0.417	T	0.55736	-0.8094	10	0.87932	D	0	-2.8199	16.8295	0.85940	0.0:0.0:1.0:0.0	.	512	Q86UD4	ZN329_HUMAN	W	512	ENSP00000350773:R512W;ENSP00000439527:R512W	ENSP00000350773:R512W	R	-	1	2	ZNF329	63331149	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	-0.294000	0.08309	2.717000	0.92951	0.655000	0.94253	CGG		0.507	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		63	106	0	0	0	0	63	106				
SOX11	6664	broad.mit.edu	37	2	5833121	5833121	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:5833121C>T	ENST00000322002.3	+	1	323	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	90					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTGGAAAATGCTGAAGGACAG	0.587																																						uc002qyj.2		NA																	0				central_nervous_system(3)	3						c.(268-270)CTG>TTG		SRY-box 11							51.0	55.0	53.0					2																	5833121		2203	4300	6503	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833121C>T		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.268C>T	2.37:g.5833121C>T							p.L90L	NM_003108	NP_003099	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	323	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		90			HMG box.		Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.268C>T	CCDS1654.1																																																																																				0.587	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		15	48	0	0	0	0	15	48				
ZNF512	84450	broad.mit.edu	37	2	27830785	27830785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:27830785G>A	ENST00000355467.4	+	10	1093	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF512_ENST00000416005.2_Missense_Mutation_p.R308Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.R206Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.R336Q|ZNF512_ENST00000413371.2_Missense_Mutation_p.R260Q	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	337					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGTGGGGGCCGAGTTCAGAGA	0.512																																						uc002rla.2		NA																	0				ovary(1)	1						c.(1009-1011)CGA>CAA		zinc finger protein 512							85.0	79.0	81.0					2																	27830785		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27830785G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1010G>A	2.37:g.27830785G>A	ENSP00000347648:p.Arg337Gln					ZNF512_uc010ylv.1_Missense_Mutation_p.R258Q|ZNF512_uc010ylw.1_Missense_Mutation_p.R308Q|ZNF512_uc002rlb.2_Missense_Mutation_p.R258Q|ZNF512_uc010ylx.1_Missense_Mutation_p.R258Q|ZNF512_uc002rlc.2_Missense_Mutation_p.R258Q|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.R230Q	p.R337Q	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			10	1097	+	Acute lymphoblastic leukemia(172;0.155)		337					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.1010G>A	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050056	0.93740	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.84	5.84	0.93424	.	0.176193	0.41605	D	0.000855	T	0.53883	0.1824	L	0.55990	1.75	0.42273	D	0.992061	P;P;D	0.55385	0.929;0.929;0.971	B;B;B	0.40228	0.323;0.323;0.296	T	0.58549	-0.7617	9	0.44086	T	0.13	-1.5869	16.9177	0.86155	0.0:0.0:1.0:0.0	.	232;308;337	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	Q	336;337;206;308;260	.	ENSP00000347648:R337Q	R	+	2	0	ZNF512	27684289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.822000	0.92013	2.781000	0.95711	0.650000	0.86243	CGA		0.512	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		12	49	0	0	0	0	12	49				
CCDC88A	55704	broad.mit.edu	37	2	55571557	55571557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:55571557C>T	ENST00000436346.1	-	11	1976	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E379K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E379K|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E379K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	379					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTCTAATTCATGTAATTTA	0.318																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(1135-1137)GAA>AAA		coiled-coil domain containing 88A isoform 1							127.0	124.0	125.0					2																	55571557		2203	4299	6502	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55571557C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1135G>A	2.37:g.55571557C>T	ENSP00000410608:p.Glu379Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E379K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E281K	p.E379K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			11	1977	-			379			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.1135G>A		.	.	.	.	.	.	.	.	.	.	C	29.4	5.001263	0.93227	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.68	5.68	0.88126	.	0.284524	0.24409	U	0.038776	T	0.49558	0.1564	L	0.49350	1.555	0.80722	D	1	B;B;B	0.25235	0.121;0.024;0.051	B;B;B	0.32393	0.145;0.033;0.046	T	0.37888	-0.9686	10	0.33141	T	0.24	-12.9726	19.7953	0.96478	0.0:1.0:0.0:0.0	.	379;379;379	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	379	ENSP00000338728:E379K;ENSP00000263630:E379K;ENSP00000410608:E379K;ENSP00000404431:E379K	ENSP00000263630:E379K	E	-	1	0	CCDC88A	55425061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.599000	0.61076	2.674000	0.91012	0.585000	0.79938	GAA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		8	58	0	0	0	0	8	58				
OBSL1	23363	broad.mit.edu	37	2	220432935	220432935	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr2:220432935C>T	ENST00000404537.1	-	2	1180	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	OBSL1_ENST00000603926.1_Missense_Mutation_p.R375H|OBSL1_ENST00000265318.4_Missense_Mutation_p.R375H|OBSL1_ENST00000289656.3_De_novo_Start_OutOfFrame|OBSL1_ENST00000373876.1_Missense_Mutation_p.R375H|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373873.4_Missense_Mutation_p.R375H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	375	Ig-like 4.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc010fwk.2		NA																	0					0						c.(1123-1125)CGT>CAT		obscurin-like 1							25.0	33.0	30.0					2																	220432935		1987	4156	6143	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220432935C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1124G>A	2.37:g.220432935C>T	ENSP00000385636:p.Arg375His		OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2266	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R375H|OBSL1_uc002vmj.2_Translation_Start_Site	p.R375H	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	2	1181	-		Renal(207;0.0376)	375			Ig-like 4.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1124G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116002	0.77323	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16938	0.0407	L	0.45285	1.41	0.35109	D	0.765945	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.976	T	0.02546	-1.1143	9	0.56958	D	0.05	.	11.637	0.51209	0.2982:0.7017:0.0:0.0	.	375;375	O75147;O75147-2	OBSL1_HUMAN;.	H	375	ENSP00000265318:R375H;ENSP00000385636:R375H;ENSP00000362983:R375H;ENSP00000362980:R375H	ENSP00000265318:R375H	R	-	2	0	OBSL1	220141179	1.000000	0.71417	0.963000	0.40424	0.966000	0.64601	6.456000	0.73501	2.694000	0.91930	0.650000	0.86243	CGT		0.637	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			9	31	0	0	0	0	9	31				
SIRPB1	10326	broad.mit.edu	37	20	1551696	1551696	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:1551696C>T	ENST00000381605.4	-	4	903	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	280	Ig-like C1-type 2.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTAGTCCCCGGGGGTAGAA	0.537																																						uc010gai.2		NA																	0				ovary(1)	1						c.(838-840)CGG>CAG		signal-regulatory protein beta 1 isoform 1							116.0	110.0	112.0					20																	1551696		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1551696C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.839G>A	20.37:g.1551696C>T	ENSP00000371018:p.Arg280Gln					SIRPB1_uc002wfk.3_Intron	p.R280Q	NM_006065	NP_006056	O00241	SIRB1_HUMAN			4	938	-			280			Ig-like C1-type 2.|Extracellular (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.839G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.847186	0.00568	.	.	ENSG00000101307	ENST00000381605	T	0.02916	4.11	2.39	-4.78	0.03209	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.767660	0.02780	N	0.120713	T	0.01287	0.0042	N	0.03071	-0.42	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.43278	-0.9401	10	0.05620	T	0.96	.	7.3736	0.26815	0.0:0.5961:0.164:0.2399	.	280	O00241	SIRB1_HUMAN	Q	280	ENSP00000371018:R280Q	ENSP00000371018:R280Q	R	-	2	0	SIRPB1	1499696	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.602000	0.00891	-2.581000	0.00462	-0.959000	0.02639	CGG		0.537	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		38	68	0	0	0	0	38	68				
PAX1	5075	broad.mit.edu	37	20	21687285	21687285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:21687285G>A	ENST00000398485.2	+	2	550	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	PAX1_ENST00000444366.2_Missense_Mutation_p.G142R|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	166	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		G -> V (in OFC2; significantly reduced transactivation of the regulatory sequence of NKX3-2 in cells over- expressing the mutant sequence compared to cells over-expressing wild-type sequence). {ECO:0000269|PubMed:23851939}.		bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGGGCCATCGGGGGGAGCAA	0.647																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(496-498)GGG>AGG		paired box 1							50.0	54.0	53.0					20																	21687285		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687285G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.496G>A	20.37:g.21687285G>A	ENSP00000381499:p.Gly166Arg					PAX1_uc010zsl.1_Missense_Mutation_p.G166R|PAX1_uc010zsm.1_Missense_Mutation_p.G142R	p.G166R	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	550	+			166			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.496G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808898	0.70797	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99745	-6.61;-6.61	5.54	5.54	0.83059	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97054	0.9766	10	0.87932	D	0	.	19.1068	0.93300	0.0:0.0:1.0:0.0	.	142;72;166	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	R	166;142	ENSP00000381499:G166R;ENSP00000410355:G142R	ENSP00000381499:G166R	G	+	1	0	PAX1	21635285	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	9.575000	0.98187	2.602000	0.87976	0.655000	0.94253	GGG		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			18	89	0	0	0	0	18	89				
AAR2	25980	broad.mit.edu	37	20	34827959	34827959	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr20:34827959T>G	ENST00000373932.3	+	2	515	c.169T>G	c.(169-171)Ttc>Gtc	p.F57V	AAR2_ENST00000320849.4_Missense_Mutation_p.F57V|AAR2_ENST00000397286.3_Missense_Mutation_p.F57V	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	57																	AGGCATCCACTTCCTCCACTA	0.572																																						uc002xfc.1		NA																	0					0						c.(169-171)TTC>GTC		hypothetical protein LOC25980							79.0	74.0	75.0					20																	34827959		2203	4300	6503	SO:0001583	missense	25980							g.chr20:34827959T>G		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.169T>G	20.37:g.34827959T>G	ENSP00000363043:p.Phe57Val					C20orf4_uc002xfd.1_Missense_Mutation_p.F57V|C20orf4_uc002xfe.1_Missense_Mutation_p.F57V	p.F57V	NM_015511	NP_056326	Q9Y312	CT004_HUMAN			2	262	+	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)	57					E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	c.169T>G	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105241	0.77096	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.55760	0.5;0.5;0.5	5.03	3.94	0.45596	.	0.043599	0.85682	D	0.000000	T	0.70806	0.3266	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.71674	0.998;0.991	D;D	0.69654	0.965;0.92	T	0.73616	-0.3926	10	0.51188	T	0.08	.	10.1528	0.42805	0.0:0.0831:0.0:0.9169	.	57;57	A2A2Q9;Q9Y312	.;CT004_HUMAN	V	57	ENSP00000380455:F57V;ENSP00000313674:F57V;ENSP00000363043:F57V	ENSP00000313674:F57V	F	+	1	0	C20orf4	34291373	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.446000	0.66600	2.240000	0.73641	0.533000	0.62120	TTC		0.572	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		7	81	0	0	0	0	7	81				
NCAM2	4685	broad.mit.edu	37	21	22804480	22804480	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr21:22804480G>A	ENST00000400546.1	+	12	1782	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	NCAM2_ENST00000284894.7_Silent_p.T369T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	511	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CGCAGACCACGGCCAAGGTTT	0.448																																						uc002yld.1		NA																	0				ovary(4)	4						c.(1531-1533)ACG>ACA		neural cell adhesion molecule 2 precursor							73.0	70.0	71.0					21																	22804480		1915	4134	6049	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804480G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1533G>A	21.37:g.22804480G>A						NCAM2_uc011acb.1_Silent_p.T369T	p.T511T	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1782	+		Lung NSC(9;0.195)	511			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1533G>A	CCDS42910.1																																																																																				0.448	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		6	48	0	0	0	0	6	48				
HPS4	89781	broad.mit.edu	37	22	26849348	26849348	+	Missense_Mutation	SNP	C	C	T	rs530118832		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr22:26849348C>T	ENST00000398145.2	-	14	2594	c.1978G>A	c.(1978-1980)Gcc>Acc	p.A660T	HPS4_ENST00000398141.1_Missense_Mutation_p.A673T|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000336873.5_Missense_Mutation_p.A660T|HPS4_ENST00000402105.3_Missense_Mutation_p.A655T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	660					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCAACAGGCGTACACAGCC	0.562									Hermansky-Pudlak syndrome																													uc003acl.2		NA																	0					0						c.(1978-1980)GCC>ACC		light ear protein isoform a							98.0	99.0	99.0					22																	26849348		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26849348C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1978G>A	22.37:g.26849348C>T	ENSP00000381213:p.Ala660Thr					HPS4_uc003aci.2_Missense_Mutation_p.A655T|HPS4_uc003acj.2_Missense_Mutation_p.A524T|HPS4_uc003ack.2_Missense_Mutation_p.A451T|HPS4_uc003acn.2_Missense_Mutation_p.A506T|HPS4_uc003ach.2_Missense_Mutation_p.A395T	p.A660T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			14	2637	-			660					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1978G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947843	0.73787	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.4	4.4	0.53042	.	0.064498	0.64402	D	0.000011	T	0.50429	0.1615	M	0.72894	2.215	0.46203	D	0.998922	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.99;0.99;0.99;0.993;0.99	T	0.55780	-0.8087	10	0.72032	D	0.01	-22.0861	16.1578	0.81677	0.0:1.0:0.0:0.0	.	660;660;660;673;655	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	T	660;673;655;660	ENSP00000381213:A660T;ENSP00000381210:A673T;ENSP00000384185:A655T;ENSP00000338457:A660T	ENSP00000338457:A660T	A	-	1	0	HPS4	25179348	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	6.524000	0.73791	2.271000	0.75665	0.555000	0.69702	GCC		0.562	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		16	105	0	0	0	0	16	105				
SLC6A6	6533	broad.mit.edu	37	3	14499524	14499524	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:14499524C>T	ENST00000454876.2	+	6	995	c.666C>T	c.(664-666)ctC>ctT	p.L222L	SLC6A6_ENST00000360861.3_Silent_p.L222L|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	222					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ACCTCGCTCTCTGCCTTCTTT	0.562																																						uc010heg.2		NA																	0				ovary(1)	1						c.(664-666)CTC>CTT		solute carrier family 6 (neurotransmitter							246.0	195.0	212.0					3																	14499524		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14499524C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.666C>T	3.37:g.14499524C>T						SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.L222L|SLC6A6_uc003byr.2_RNA	p.L222L	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			13	957	+			222			Helical; Name=4; (Potential).		B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.666C>T	CCDS33705.1																																																																																				0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		25	101	0	0	0	0	25	101				
IL17RB	55540	broad.mit.edu	37	3	53883814	53883814	+	Missense_Mutation	SNP	G	G	A	rs145364776		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:53883814G>A	ENST00000288167.3	+	3	227	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	73					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGGGTACTCCGGGCAGATGGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		20601	0.0		0.001	False		,,,				2504	0.0					uc003dha.2		NA																	0				ovary(2)|pancreas(1)	3						c.(217-219)CGG>CAG		interleukin 17B receptor precursor							120.0	124.0	123.0					3																	53883814		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53883814G>A	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.218G>A	3.37:g.53883814G>A	ENSP00000288167:p.Arg73Gln						p.R73Q	NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	257	+			73			Extracellular (Potential).		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.218G>A	CCDS2874.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.63	1.405221	0.25378	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.21734	1.99;1.99	5.32	3.18	0.36537	.	0.147941	0.32106	N	0.006574	T	0.24275	0.0588	L	0.45137	1.4	0.28613	N	0.908546	D	0.76494	0.999	P	0.55999	0.789	T	0.04825	-1.0924	10	0.11794	T	0.64	-19.9964	8.507	0.33193	0.2071:0.0:0.7929:0.0	.	73	Q9NRM6	I17RB_HUMAN	Q	73	ENSP00000288167:R73Q;ENSP00000418638:R73Q	ENSP00000288167:R73Q	R	+	2	0	IL17RB	53858854	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.811000	0.47986	1.243000	0.43853	0.561000	0.74099	CGG		0.443	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		44	70	0	0	0	0	44	70				
OR5H15	403274	broad.mit.edu	37	3	97887689	97887689	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr3:97887689T>C	ENST00000356526.2	+	1	146	c.146T>C	c.(145-147)aTc>aCc	p.I49T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	49						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(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTGCTGTCATCTGGAAAGAC	0.423																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(145-147)ATC>ACC		olfactory receptor, family 5, subfamily H,							91.0	92.0	91.0					3																	97887689		2203	4295	6498	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887689T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.146T>C	3.37:g.97887689T>C	ENSP00000373195:p.Ile49Thr						p.I49T	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	146	+			49			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.146T>C	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	9.043	0.990215	0.18966	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.08458	3.09	2.48	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.147317	0.31199	N	0.008075	T	0.18964	0.0455	L	0.60904	1.88	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02751	-1.1115	10	0.72032	D	0.01	.	5.8972	0.18945	0.0:0.1435:0.0:0.8565	.	49	A6NDH6	O5H15_HUMAN	T	49	ENSP00000373195:I49T	ENSP00000373195:I49T	I	+	2	0	OR5H15	99370379	0.247000	0.23920	0.971000	0.41717	0.130000	0.20726	3.530000	0.53539	0.200000	0.20447	-1.401000	0.01141	ATC		0.423	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			87	146	0	0	0	0	87	146				
UCHL1	7345	broad.mit.edu	37	4	41265298	41265298	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:41265298C>T	ENST00000284440.4	+	7	660	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UCHL1_ENST00000503431.1_Silent_p.L172L|UCHL1_ENST00000508768.1_Silent_p.L156L|UCHL1_ENST00000512788.1_Silent_p.L172L	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	172					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ATGGCCACCTCTATGAACTTG	0.343																																						uc003gvo.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(514-516)CTC>CTT		ubiquitin carboxyl-terminal esterase L1							218.0	201.0	207.0					4																	41265298		2203	4300	6503	SO:0001819	synonymous_variant	7345				cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr4:41265298C>T	BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.516C>T	4.37:g.41265298C>T						UCHL1_uc003gvp.2_Silent_p.L91L|UCHL1_uc003gvq.2_Silent_p.L91L|UCHL1_uc003gvr.2_Silent_p.L91L|UCHL1_uc003gvs.2_Silent_p.L91L	p.L172L	NM_004181	NP_004172	P09936	UCHL1_HUMAN			7	612	+			172					Q4W5K6|Q71UM0	Silent	SNP	ENST00000284440.4	37	c.516C>T	CCDS3462.1																																																																																				0.343	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1	NM_004181		12	90	0	0	0	0	12	90				
NDNF	79625	broad.mit.edu	37	4	121958733	121958733	+	Silent	SNP	A	A	G			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:121958733A>G	ENST00000379692.4	-	4	919	c.393T>C	c.(391-393)aaT>aaC	p.N131N	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	131					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ACTCAACATCATTGCCTTTGT	0.403																																						uc003idq.1		NA																	0					0						c.(391-393)AAT>AAC		hypothetical protein LOC79625 precursor							100.0	96.0	97.0					4																	121958733		1923	4128	6051	SO:0001819	synonymous_variant	79625							g.chr4:121958733A>G	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.393T>C	4.37:g.121958733A>G							p.N131N	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	920	-			131					A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.393T>C	CCDS3717.2																																																																																				0.403	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		15	63	0	0	0	0	15	63				
PCDH10	57575	broad.mit.edu	37	4	134072411	134072411	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:134072411G>A	ENST00000264360.5	+	1	1942	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGGCGCGGCGCCCGGCACTG	0.617																																						uc003iha.2		NA																	0				ovary(2)	2						c.(1114-1116)GCG>GCA		protocadherin 10 isoform 1 precursor							77.0	78.0	78.0					4																	134072411		2202	4300	6502	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072411G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1116G>A	4.37:g.134072411G>A						uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A372A	p.A372A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1942	+			372			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1116G>A	CCDS34063.1																																																																																				0.617	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		13	95	0	0	0	0	13	95				
CCRN4L	25819	broad.mit.edu	37	4	139965866	139965866	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:139965866C>T	ENST00000280614.2	+	3	727	c.534C>T	c.(532-534)ctC>ctT	p.L178L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	178					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					GGAAATGTCTCATCCTGGAAG	0.463																																					Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.2		NA																	0				ovary(1)	1						c.(532-534)CTC>CTT		CCR4 carbon catabolite repression 4-like							95.0	89.0	91.0					4																	139965866		2203	4300	6503	SO:0001819	synonymous_variant	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139965866C>T	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.534C>T	4.37:g.139965866C>T							p.L178L	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN			3	727	+	all_hematologic(180;0.162)		178					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Silent	SNP	ENST00000280614.2	37	c.534C>T	CCDS3743.1																																																																																				0.463	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		21	74	0	0	0	0	21	74				
NR3C2	4306	broad.mit.edu	37	4	149356634	149356634	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:149356634A>T	ENST00000358102.3	-	2	1741	c.1379T>A	c.(1378-1380)tTt>tAt	p.F460Y	NR3C2_ENST00000355292.3_Missense_Mutation_p.F460Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.F460Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.F460Y	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	460	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATCATCCATAAAGGAAAAATA	0.418																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NA																	0				large_intestine(1)	1						c.(1378-1380)TTT>TAT		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						62.0	61.0	61.0					4																	149356634		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356634A>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1379T>A	4.37:g.149356634A>T	ENSP00000350815:p.Phe460Tyr					NR3C2_uc003ilk.3_Missense_Mutation_p.F460Y|NR3C2_uc010iph.2_RNA	p.F460Y	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1713	-	all_hematologic(180;0.151)		460			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1379T>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689649	0.48097	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.33;-2.32;-2.72	5.4	5.4	0.78164	.	0.048636	0.85682	D	0.000000	D	0.89522	0.6739	N	0.24115	0.695	0.43814	D	0.996376	D;D	0.65815	0.993;0.995	P;P	0.56278	0.714;0.795	D	0.88751	0.3250	9	.	.	.	.	15.717	0.77674	1.0:0.0:0.0:0.0	.	460;460	B0ZBF5;B0ZBF6	.;.	Y	460	ENSP00000341390:F460Y;ENSP00000347441:F460Y;ENSP00000350815:F460Y;ENSP00000423510:F460Y;ENSP00000343907:F460Y;ENSP00000421481:F460Y	.	F	-	2	0	NR3C2	149576084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.862000	0.92283	2.165000	0.68154	0.533000	0.62120	TTT		0.418	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			10	52	0	0	0	0	10	52				
TRIML2	205860	broad.mit.edu	37	4	189012783	189012783	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr4:189012783C>A	ENST00000512729.1	-	7	1282	c.908G>T	c.(907-909)tGg>tTg	p.W303L	TRIML2_ENST00000326754.3_Missense_Mutation_p.W328L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	303	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGGGAAGACCCAGAGAGTCCA	0.552																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(907-909)TGG>TTG		tripartite motif family-like 2							131.0	147.0	142.0					4																	189012783		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012783C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.908G>T	4.37:g.189012783C>A	ENSP00000422581:p.Trp303Leu					TRIML2_uc003izj.1_Missense_Mutation_p.W131L|TRIML2_uc003izk.1_Missense_Mutation_p.W111L|TRIML2_uc011cle.1_Missense_Mutation_p.W378L	p.W303L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	944	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	303			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.908G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698406	0.48307	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.60040	0.22;0.22	5.85	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47455	D	0.000222	T	0.53594	0.1806	N	0.25485	0.75	0.80722	D	1	P;P	0.48503	0.911;0.911	P;P	0.51516	0.672;0.672	T	0.50136	-0.8863	10	0.27785	T	0.31	.	13.1975	0.59746	0.0:0.9229:0.0:0.0771	.	328;303	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	L	303;328	ENSP00000422581:W303L;ENSP00000317498:W328L	ENSP00000317498:W328L	W	-	2	0	TRIML2	189249777	0.048000	0.20356	1.000000	0.80357	0.104000	0.19210	1.872000	0.39549	1.630000	0.50440	0.655000	0.94253	TGG		0.552	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		35	124	1	0	8.42e-14	6.02e-13	35	124				
RASA1	5921	broad.mit.edu	37	5	86674234	86674234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:86674234G>T	ENST00000274376.6	+	18	2930	c.2366G>T	c.(2365-2367)cGa>cTa	p.R789L	RASA1_ENST00000512763.1_Missense_Mutation_p.R622L|RASA1_ENST00000506290.1_Missense_Mutation_p.R623L|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000456692.2_Missense_Mutation_p.R612L	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	789	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.			R -> A (in Ref. 4; AA sequence). {ECO:0000305}.	blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R789Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353																																						uc003kiw.2		NA																	1	Substitution - Missense(1)		endometrium(1)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2365-2367)CGA>CTA		RAS p21 protein activator 1 isoform 1							107.0	102.0	104.0					5																	86674234		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674234G>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2366G>T	5.37:g.86674234G>T	ENSP00000274376:p.Arg789Leu					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612L|RASA1_uc011ctv.1_Missense_Mutation_p.R622L|RASA1_uc011ctw.1_Missense_Mutation_p.R623L|RASA1_uc010jaw.2_Missense_Mutation_p.R611L	p.R789L	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	2484	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	789	R -> A (in Ref. 4; AA sequence).		Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2366G>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282452	0.95489	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.36	5.36	0.76844	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.79493	0.4455	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.85560	0.1227	10	0.87932	D	0	.	19.4651	0.94934	0.0:0.0:1.0:0.0	.	623;622;623;612;789	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	L	789;822;612;622;623	ENSP00000274376:R789L;ENSP00000411221:R612L;ENSP00000422008:R622L;ENSP00000420905:R623L	ENSP00000274376:R789L	R	+	2	0	RASA1	86709990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.671000	0.90904	0.655000	0.94253	CGA		0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		16	25	1	0	1.68e-08	1.15e-07	16	25				
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr5:140182317C>T	ENST00000522353.2	+	1	1535	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1534-1536)GCG>GTG		protocadherin alpha 3 isoform 1 precursor							76.0	78.0	77.0					5																	140182317		2203	4299	6502	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182317C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1535C>T	5.37:g.140182317C>T	ENSP00000429808:p.Ala512Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A512V	p.A512V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1535	+			512			Cadherin 5.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1535C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.861843	0.71949	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.52983	0.64;0.64	4.75	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.183399	0.25355	U	0.031265	T	0.59729	0.2215	L	0.46157	1.445	0.23673	N	0.997145	D;D	0.71674	0.998;0.995	D;P	0.63957	0.92;0.819	T	0.56463	-0.7975	10	0.87932	D	0	.	15.1255	0.72481	0.0:0.8576:0.1424:0.0	.	512;512	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	512	ENSP00000429808:A512V;ENSP00000434086:A512V	ENSP00000429808:A512V	A	+	2	0	PCDHA3	140162501	0.000000	0.05858	1.000000	0.80357	0.881000	0.50899	1.074000	0.30703	1.104000	0.41587	0.461000	0.40582	GCG		0.706	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		7	124	0	0	0	0	7	124				
HIST1H2BK	85236	broad.mit.edu	37	6	27114379	27114379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:27114379C>T	ENST00000356950.1	-	1	198	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.V67I|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	67					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGTCGTTGACGAAGGAGTTC	0.592																																						uc003nix.1		NA																	0					0						c.(199-201)GTC>ATC		histone cluster 1, H2bk							135.0	126.0	129.0					6																	27114379		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114379C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.199G>A	6.37:g.27114379C>T	ENSP00000349430:p.Val67Ile					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	p.V67I	NM_080593	NP_542160	O60814	H2B1K_HUMAN			1	241	-			67					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.199G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.074637	0.76415	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.26518	1.73;1.73	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.11922	0.0290	L	0.31207	0.915	0.36343	D	0.859608	B	0.31040	0.305	B	0.35550	0.205	T	0.08994	-1.0695	9	0.45353	T	0.12	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	67	O60814	H2B1K_HUMAN	I	67	ENSP00000380100:V67I;ENSP00000349430:V67I	ENSP00000349430:V67I	V	-	1	0	HIST1H2BK	27222358	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.218000	0.65257	2.080000	0.62538	0.650000	0.86243	GTC		0.592	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		18	254	0	0	0	0	18	254				
HSP90AB1	3326	broad.mit.edu	37	6	44221057	44221058	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:44221057_44221058CC>AA	ENST00000371554.1	+	11	2221_2222	c.2007_2008CC>AA	c.(2005-2010)tcCCtt>tcAAtt	p.L670I	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.L670I|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.L670I			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	670					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCTTTTCCCTTGAGGATCC	0.525																																						uc003oxa.1		NA																	0				lung(3)|breast(1)	4						c.(2005-2010)TCCCTT>TCAATT		heat shock 90kDa protein 1, beta																																				SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221057_44221058CC>AA	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	Exception_encountered	6.37:g.44221057_44221058delinsAA	ENSP00000360609:p.Leu670Ile					HSP90AB1_uc011dvr.1_Missense_Mutation_p.L660I|HSP90AB1_uc003oxb.1_Missense_Mutation_p.L670I|HSP90AB1_uc011dvs.1_Missense_Mutation_p.L490I|HSP90AB1_uc003oxc.1_Missense_Mutation_p.L308I	p.L670I	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2091_2092	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		670					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	DNP	ENST00000371554.1	37	c.2007_2008CC>AA	CCDS4909.1																																																																																				0.525	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		10	608	0	0	0	0	10	608				
HIVEP2	3097	broad.mit.edu	37	6	143092672	143092672	+	Silent	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:143092672C>T	ENST00000367604.1	-	4	3843	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	HIVEP2_ENST00000367603.2_Silent_p.T1068T|HIVEP2_ENST00000012134.2_Silent_p.T1068T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1068					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(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACGGTGATACCGTGGAGGCTG	0.557																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3202-3204)ACG>ACA		human immunodeficiency virus type I enhancer							34.0	36.0	36.0					6																	143092672		2009	4167	6176	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092672C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3204G>A	6.37:g.143092672C>T							p.T1068T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	3947	-			1068					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.3204G>A	CCDS43510.1																																																																																				0.557	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			9	35	0	0	0	0	9	35				
UTRN	7402	broad.mit.edu	37	6	144769778	144769778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr6:144769778C>T	ENST00000367545.3	+	16	1945	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	649	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGATTCCTCAGAAGGACCT	0.413																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1945-1947)CAG>TAG		utrophin							115.0	113.0	114.0					6																	144769778		2203	4300	6503	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769778C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1945C>T	6.37:g.144769778C>T	ENSP00000356515:p.Gln649*					UTRN_uc010khq.1_Nonsense_Mutation_p.Q649*	p.Q649*	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	2037	+		Ovarian(120;0.218)	649			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.1945C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	40	8.089204	0.98648	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.87	5.87	0.94306	.	0.000000	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	649	.	ENSP00000356499:Q649X	Q	+	1	0	UTRN	144811471	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.731000	0.62022	2.941000	0.99782	0.655000	0.94253	CAG		0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			10	78	0	0	0	0	10	78				
STYXL1	51657	broad.mit.edu	37	7	75634686	75634686	+	Missense_Mutation	SNP	C	C	T	rs147059565		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:75634686C>T	ENST00000248600.1	-	6	832	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	STYXL1_ENST00000451157.1_Missense_Mutation_p.V164M|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000340062.5_Missense_Mutation_p.V68M|STYXL1_ENST00000359697.3_Missense_Mutation_p.V164M|STYXL1_ENST00000431581.1_Missense_Mutation_p.V164M	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	164	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V164M(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTCCCTGGCACGATTTCAATG	0.478																																						uc003uej.3		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(490-492)GTG>ATG		map kinase phosphatase-like protein MK-STYX		C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	125.0	113.0	117.0		490	-10.3	0.0	7	dbSNP_134	117	0,8600		0,0,4300	no	missense	STYXL1	NM_016086.2	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	164/314	75634686	2,13004	2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75634686C>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.490G>A	7.37:g.75634686C>T	ENSP00000248600:p.Val164Met					STYXL1_uc003uef.2_Translation_Start_Site|STYXL1_uc011kgf.1_Missense_Mutation_p.V26M|STYXL1_uc011kgg.1_Missense_Mutation_p.V16M|STYXL1_uc003ueh.2_Missense_Mutation_p.V26M|STYXL1_uc003uek.3_Missense_Mutation_p.V68M|STYXL1_uc003uel.2_Missense_Mutation_p.V164M|STYXL1_uc003uem.2_Missense_Mutation_p.V164M|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V164M|STYXL1_uc003uen.1_Missense_Mutation_p.V164M	p.V164M	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			6	663	-			164			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.490G>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.283411	0.01398	4.54E-4	0.0	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.13	-10.3	0.00346	Rhodanese-like (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	1.407880	0.04169	N	0.324400	T	0.16041	0.0386	N	0.20986	0.625	0.09310	N	0.999998	B;B;B;B;B	0.31383	0.321;0.016;0.17;0.068;0.006	B;B;B;B;B	0.23419	0.03;0.014;0.046;0.023;0.007	T	0.20338	-1.0278	10	0.54805	T	0.06	-0.4673	8.1654	0.31224	0.0779:0.5078:0.2502:0.1641	.	164;164;164;68;164	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8	.;.;.;.;STYL1_HUMAN	M	164;164;68;164;164;119;164	ENSP00000248600:V164M;ENSP00000352726:V164M;ENSP00000343383:V68M;ENSP00000392221:V164M;ENSP00000406073:V119M;ENSP00000411812:V164M	ENSP00000248600:V164M	V	-	1	0	STYXL1	75472622	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.890000	0.00710	-3.545000	0.00143	-2.049000	0.00408	GTG		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		19	49	0	0	0	0	19	49				
PCLO	27445	broad.mit.edu	37	7	82584839	82584839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:82584839G>T	ENST00000333891.9	-	5	5767	c.5430C>A	c.(5428-5430)gaC>gaA	p.D1810E	PCLO_ENST00000423517.2_Missense_Mutation_p.D1810E	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						GTTCATCTTTGTCTTTCTTTG	0.393																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(5428-5430)GAC>GAA		piccolo isoform 1							178.0	165.0	169.0					7																	82584839		1845	4088	5933	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.chr7:82584839G>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.5430C>A	7.37:g.82584839G>T	ENSP00000334319:p.Asp1810Glu					PCLO_uc003uhv.2_Missense_Mutation_p.D1810E	p.D1810E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5719	-			1741						Missense_Mutation	SNP	ENST00000333891.9	37	c.5430C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	8.569	0.879696	0.17467	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27256	1.68;1.7	5.57	4.68	0.58851	.	.	.	.	.	T	0.25791	0.0628	N	0.17082	0.46	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.52758	0.708;0.708	T	0.02975	-1.1087	9	0.87932	D	0	.	12.8733	0.57977	0.133:0.0:0.867:0.0	.	1810;1810	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1741;1810;1810	ENSP00000334319:D1810E;ENSP00000388393:D1810E	ENSP00000334319:D1810E	D	-	3	2	PCLO	82422775	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.492000	0.22435	2.619000	0.88677	0.655000	0.94253	GAC		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	145	1	0	5.6e-13	3.98e-12	32	145				
DPP6	1804	broad.mit.edu	37	7	154681011	154681011	+	Silent	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr7:154681011G>A	ENST00000377770.3	+	24	2475	c.2334G>A	c.(2332-2334)gcG>gcA	p.A778A	DPP6_ENST00000332007.3_Silent_p.A716A|DPP6_ENST00000404039.1_Silent_p.A714A|DPP6_ENST00000427557.1_Silent_p.A671A			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	778					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTCTCCGCGCTGGAAGAAC	0.537																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(2332-2334)GCG>GCA		dipeptidyl-peptidase 6 isoform 1							55.0	57.0	56.0					7																	154681011		2016	4177	6193	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154681011G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2334G>A	7.37:g.154681011G>A						DPP6_uc003wli.2_Silent_p.A714A|DPP6_uc003wlm.2_Silent_p.A716A|DPP6_uc011kvq.1_Silent_p.A671A	p.A778A	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		24	2463	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	778			Extracellular (Potential).			Silent	SNP	ENST00000377770.3	37	c.2334G>A																																																																																					0.537	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		5	17	0	0	0	0	5	17				
IKBKB	3551	broad.mit.edu	37	8	42175203	42175203	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr8:42175203A>T	ENST00000520810.1	+	12	1340	c.1154A>T	c.(1153-1155)gAt>gTt	p.D385V	IKBKB_ENST00000379708.3_Missense_Mutation_p.D162V|IKBKB_ENST00000520835.1_Missense_Mutation_p.D383V|IKBKB_ENST00000416505.2_Missense_Mutation_p.D326V|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	385					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTGGACATGGATCTTGTTTTT	0.413																																						uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1153-1155)GAT>GTT		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						150.0	136.0	141.0					8																	42175203		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42175203A>T	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1154A>T	8.37:g.42175203A>T	ENSP00000430684:p.Asp385Val					IKBKB_uc010lxh.1_Missense_Mutation_p.D280V|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.D162V|IKBKB_uc003xox.1_Missense_Mutation_p.D106V|IKBKB_uc011lcp.1_Intron|IKBKB_uc011lcq.1_Missense_Mutation_p.D383V|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.D326V	p.D385V	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		12	1331	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	385					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1154A>T	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913577	0.72983	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.51	5.51	0.81932	.	0.100037	0.64402	D	0.000002	T	0.50650	0.1628	M	0.63428	1.95	0.80722	D	1	D;B;D;B;B	0.57899	0.966;0.356;0.981;0.138;0.138	P;B;P;B;B	0.55161	0.543;0.138;0.77;0.065;0.065	T	0.46414	-0.9193	10	0.23891	T	0.37	.	10.5543	0.45107	0.9239:0.0:0.0761:0.0	.	326;383;162;336;385	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	V	385;326;383;162	ENSP00000430684:D385V;ENSP00000404920:D326V;ENSP00000430868:D383V;ENSP00000369030:D162V	ENSP00000369030:D162V	D	+	2	0	IKBKB	42294360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.701000	0.61810	2.105000	0.64084	0.454000	0.30748	GAT		0.413	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			13	49	0	0	0	0	13	49				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	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	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	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.chr9:21971186G>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.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	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.P113L	p.R58*	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	384	-		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)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	7	0	0	0	0	6	7				
NOX1	27035	broad.mit.edu	37	X	100099014	100099014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:100099014C>T	ENST00000372966.3	-	13	1827	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.R492H|NOX1_ENST00000372960.4_Missense_Mutation_p.R504H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACAGCATTTGCGCAGGCTCTT	0.428																																						uc004egj.2		NA																	0				ovary(1)	1						c.(1621-1623)CGC>CAC		NADPH oxidase 1 isoform long							75.0	62.0	66.0					X																	100099014		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100099014C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1622G>A	X.37:g.100099014C>T	ENSP00000362057:p.Arg541His					NOX1_uc004egl.3_Missense_Mutation_p.R492H|NOX1_uc010nne.2_Missense_Mutation_p.R504H	p.R541H	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			13	1828	-			541			Cytoplasmic (Potential).		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1622G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.725890	0.48833	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	D;D;D	0.95588	-3.75;-3.75;-3.75	5.09	2.31	0.28768	Ferric reductase, NAD binding (1);	1.135820	0.06382	N	0.715458	D	0.87386	0.6164	N	0.10916	0.065	0.19575	N	0.999961	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.74578	-0.3619	10	0.02654	T	1	-0.0196	8.048	0.30562	0.0:0.5475:0.0:0.4525	.	504;492;541	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	H	541;492;504;156	ENSP00000362057:R541H;ENSP00000217885:R492H;ENSP00000362051:R504H	ENSP00000217885:R492H	R	-	2	0	NOX1	99985670	0.000000	0.05858	0.182000	0.23118	0.952000	0.60782	0.392000	0.20801	0.163000	0.19507	-0.180000	0.13094	CGC		0.428	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		5	18	0	0	0	0	5	18				
GPR112	139378	broad.mit.edu	37	X	135487937	135487937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:135487937G>A	ENST00000394143.1	+	23	9032	c.8741G>A	c.(8740-8742)tGc>tAc	p.C2914Y	GPR112_ENST00000287534.4_Missense_Mutation_p.C2667Y|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709Y|GPR112_ENST00000370652.1_Missense_Mutation_p.C2914Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2914					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C2914F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATGTTCTGCACTGTTCTT	0.398																																						uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8740-8742)TGC>TAC		G-protein coupled receptor 112							169.0	143.0	152.0					X																	135487937		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135487937G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8741G>A	X.37:g.135487937G>A	ENSP00000377699:p.Cys2914Tyr					GPR112_uc010nsb.1_Missense_Mutation_p.C2709Y	p.C2914Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			23	9032	+	Acute lymphoblastic leukemia(192;0.000127)		2914			Cytoplasmic (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8741G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191087	0.58017	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.71	2.59	0.31030	GPCR, family 2-like (1);	.	.	.	.	T	0.47710	0.1460	L	0.27053	0.805	0.27529	N	0.951164	D;D	0.59357	0.985;0.983	D;D	0.66084	0.919;0.941	T	0.36696	-0.9737	9	0.72032	D	0.01	.	10.6106	0.45419	0.0:0.0:0.3484:0.6516	.	2709;2914	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Y	2914;2914;2709;2667;2709	ENSP00000377699:C2914Y;ENSP00000359686:C2914Y;ENSP00000416526:C2709Y;ENSP00000287534:C2667Y;ENSP00000377697:C2709Y	ENSP00000287534:C2667Y	C	+	2	0	GPR112	135315603	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	5.234000	0.65343	0.905000	0.36596	-0.178000	0.13098	TGC		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			24	65	0	0	0	0	24	65				
SIRT1	23411	broad.mit.edu	37	10	69644867	69644869	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr10:69644867_69644869delGAG	ENST00000212015.6	+	1	441_443	c.388_390delGAG	c.(388-390)gagdel	p.E134del	SIRT1_ENST00000432464.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	134	Interaction with CLOCK. {ECO:0000250|UniProtKB:Q923E4}.|Interaction with HIST1H1E.|Poly-Glu.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						cgacgagggcgaggaggaggaag	0.709																																						uc001jnd.2		NA																	0					0						c.(388-390)GAGdel		sirtuin 1 isoform a																																				SO:0001651	inframe_deletion	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69644867_69644869delGAG	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.388_390delGAG	10.37:g.69644873_69644875delGAG	ENSP00000212015:p.Glu134del					SIRT1_uc010qis.1_5'Flank|SIRT1_uc009xpp.2_5'Flank	p.E134del	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN			1	441_443	+			134			Interaction with HIST1H1E.|Poly-Glu.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	In_Frame_Del	DEL	ENST00000212015.6	37	c.388_390delGAG	CCDS7273.1																																																																																				0.709	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			2	4	NA	NA	NA	NA	2	4	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904668	55904671	+	Frame_Shift_Del	DEL	TGAT	TGAT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr11:55904668_55904671delTGAT	ENST00000301529.1	-	1	523_526	c.524_527delATCA	c.(523-528)aatcatfs	p.NH175fs		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	175						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)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACAGTAAAAATGATTGATTATATT	0.358																																						uc010riz.1		NA																	0				skin(2)	2						c.(523-528)AATCATfs		olfactory receptor, family 8, subfamily J,																																				SO:0001589	frameshift_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904668_55904671delTGAT		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.524_527delATCA	11.37:g.55904672_55904675delTGAT	ENSP00000301529:p.Asn175fs						p.N175fs	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	524_527	-	Esophageal squamous(21;0.00693)		175_176			Extracellular (Potential).		Q6IFB6|Q96RC2	Frame_Shift_Del	DEL	ENST00000301529.1	37	c.524_527delATCA	CCDS31520.1																																																																																				0.358	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		11	106	NA	NA	NA	NA	11	106	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93205154	93205158	+	Frame_Shift_Del	DEL	CTTGT	CTTGT	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr12:93205154_93205158delCTTGT	ENST00000322349.8	-	17	2360_2364	c.2096_2100delACAAG	c.(2095-2100)gacaagfs	p.DK699fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	699	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATGTTCTTGCTTGTCTTGTAACTT	0.337																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(2095-2100)GACAAGfs		early endosome antigen 1, 162kD																																				SO:0001589	frameshift_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93205154_93205158delCTTGT	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2096_2100delACAAG	12.37:g.93205159_93205163delCTTGT	ENSP00000317955:p.Asp699fs						p.D699fs	NM_003566	NP_003557	Q15075	EEA1_HUMAN			17	2361_2365	-			699_700			Gln/Glu/Lys-rich.|Potential.		Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	c.2096_2100delACAAG	CCDS31874.1																																																																																				0.337	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	38	NA	NA	NA	NA	7	38	---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100206567	100206570	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr13:100206567_100206570delCACC	ENST00000376387.4	+	14	1688_1691	c.1498_1501delCACC	c.(1498-1503)cacccafs	p.HP500fs		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	500					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GGCCATTGAACACCCAGTTCGAAC	0.417																																						uc001voj.1		NA																	0				ovary(1)	1						c.(1498-1503)CACCCAfs		transmembrane 9 superfamily member 2 precursor																																				SO:0001589	frameshift_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100206567_100206570delCACC	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1498_1501delCACC	13.37:g.100206567_100206570delCACC	ENSP00000365567:p.His500fs					TM9SF2_uc010afz.1_Frame_Shift_Del_p.H335fs	p.H500fs	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			14	1631_1634	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		500_501			Cytoplasmic (Potential).		A8K399|Q2TAY5	Frame_Shift_Del	DEL	ENST00000376387.4	37	c.1498_1501delCACC	CCDS9493.1																																																																																				0.417	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			23	94	NA	NA	NA	NA	23	94	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578446	7578466	+	In_Frame_Del	DEL	TGGCCATGGCGCGGACGCGGG	TGGCCATGGCGCGGACGCGGG	-	rs377274728|rs371524413|rs139200646|rs563378859|rs193920817|rs587780068|rs121912654|rs587782144	byFrequency	TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG	ENST00000269305.4	-	5	653_673	c.464_484delCCCGCGTCCGCGCCATGGCCA	c.(463-486)acccgcgtccgcgccatggccatc>atc	p.TRVRAMA155del	TP53_ENST00000445888.2_In_Frame_Del_p.TRVRAMA155del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Del_p.TRVRAMA155del|TP53_ENST00000359597.4_In_Frame_Del_p.TRVRAMA155del|TP53_ENST00000455263.2_In_Frame_Del_p.TRVRAMA155del|TP53_ENST00000413465.2_In_Frame_Del_p.TRVRAMA155del	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.R158L(77)|p.R158H(74)|p.A161T(54)|p.A159V(33)|p.R156P(24)|p.T155N(22)|p.A159P(19)|p.R158C(17)|p.R158G(16)|p.T155I(14)|p.A161D(11)|p.R156fs*14(11)|p.I162F(10)|p.V157I(10)|p.R156H(10)|p.R158P(9)|p.V157D(8)|p.A159A(8)|p.A161V(8)|p.R26L(8)|p.R65L(8)|p.0?(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.V157L(6)|p.V25F(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.M160I(6)|p.V64F(6)|p.R158fs(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R26H(5)|p.A161A(5)|p.R65H(5)|p.?(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.P152fs*14(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.A68T(3)|p.M160fs*10(3)|p.A29T(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.I162fs*10(3)|p.V157fs*13(3)|p.R65fs(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.A27P(2)|p.R26fs(2)|p.R156C(2)|p.A66P(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R65G(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.R156_V157del(1)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.A161P(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.A161S(1)|p.A161F(1)|p.A161G(1)|p.A27V(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.R156fs*20(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.D148_T155delDSTPPPGT(1)|p.R156_V157insV(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.A66V(1)|p.S149fs*72(1)|p.T62N(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.R65fs*11(1)|p.I69fs*10(1)|p.A29D(1)|p.I162fs*8(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.T62I(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T23N(1)|p.T23I(1)|p.D148fs*23(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.V157_I162delVRAMAI(1)|p.R156_A161del(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)|p.T155S(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)	TGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGG	0.62		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		878	Substitution - Missense(709)|Deletion - Frameshift(65)|Substitution - coding silent(32)|Deletion - In frame(22)|Insertion - Frameshift(16)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(6)|Unknown(5)|Complex - frameshift(4)|Complex - compound substitution(1)	p.V157F(139)|p.R158H(58)|p.R158L(55)|p.A161T(44)|p.A159V(30)|p.R156P(24)|p.T155N(19)|p.R158C(17)|p.T155P(14)|p.A159P(13)|p.V157I(10)|p.R156H(10)|p.T155I(10)|p.R158G(10)|p.R158P(9)|p.I162F(8)|p.V157D(8)|p.A159A(8)|p.A161D(8)|p.R156fs*14(8)|p.V157G(7)|p.A159T(7)|p.A159D(7)|p.A161V(7)|p.T155A(7)|p.0?(7)|p.V157L(6)|p.M160I(6)|p.R158R(6)|p.V157V(5)|p.A159fs*11(5)|p.I162V(5)|p.R158fs*12(5)|p.A161A(5)|p.T155T(5)|p.A159S(4)|p.R158_A159insX(4)|p.M160K(4)|p.M160V(4)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.M160fs*10(3)|p.A161fs*9(3)|p.R156L(3)|p.M160L(3)|p.P152fs*14(3)|p.V157fs*13(3)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.R158fs*11(2)|p.R156C(2)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.A159fs*21(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.R158_A159delRA(2)|p.I162fs*19(2)|p.P153fs*22(2)|p.T155S(2)|p.V157A(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.M160_A161>IS(1)|p.V157_R158delVR(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.A161F(1)|p.A161G(1)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.M160T(1)|p.R156del(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.D148_T155delDSTPPPGT(1)|p.A161fs*20(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.V157_M160delVRAM(1)|p.A161fs*7(1)|p.T155fs*15(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)|p.R158fs*24(1)|p.T155fs*26(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.A161fs*10(1)|p.I162_Y163delIY(1)|p.T155_R156delTR(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)|p.P151_V173del23(1)|p.I162fs*8(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.R158F(1)|p.R158_A159insXX(1)|p.G154fs*22(1)	lung(221)|large_intestine(73)|upper_aerodigestive_tract(71)|oesophagus(63)|breast(63)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(53)|liver(49)|urinary_tract(40)|stomach(36)|ovary(35)|skin(23)|prostate(14)|pancreas(13)|soft_tissue(11)|kidney(10)|endometrium(9)|biliary_tract(7)|vulva(6)|bone(6)|thyroid(5)|salivary_gland(2)|thymus(2)|peritoneum(1)|meninges(1)|cervix(1)|genital_tract(1)|adrenal_gland(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	CI023564|CM004341|CM942117|CM984589|CM994513	TP53	I|M		c.(463-486)ACCCGCGTCCGCGCCATGGCCATC>ATC	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.chr17:7578446_7578466delTGGCCATGGCGCGGACGCGGG	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.464_484delCCCGCGTCCGCGCCATGGCCA	17.37:g.7578446_7578466delTGGCCATGGCGCGGACGCGGG	ENSP00000269305:p.Thr155_Ala161del	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.TRVRAMA155del|TP53_uc002gih.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cng.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc002gii.1_In_Frame_Del_p.TRVRAMA23del|TP53_uc010cnh.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cni.1_In_Frame_Del_p.TRVRAMA155del|TP53_uc002gij.2_In_Frame_Del_p.TRVRAMA155del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.TRVRAMA62del|TP53_uc002gio.2_In_Frame_Del_p.TRVRAMA23del|TP53_uc010vug.1_In_Frame_Del_p.TRVRAMA116del	p.TRVRAMA155del	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658_678	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155_161		MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> T (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.464_484delCCCGCGTCCGCGCCATGGCCA	CCDS11118.1																																																																																				0.620	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	45	NA	NA	NA	NA	10	45	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50100303	50100305	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chr19:50100303_50100305delCGG	ENST00000418929.2	+	4	2723_2725	c.2711_2713delCGG	c.(2710-2715)tcggag>tag	p.904_905SE>*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCAAACTCGGAGGGCAAGGA	0.69																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(2710-2715)TCGGAG>TAG		proline rich 12																																				SO:0001651	inframe_deletion	57479						DNA binding	g.chr19:50100303_50100305delCGG	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2711_2713delCGG	19.37:g.50100303_50100305delCGG	ENSP00000394510:p.Ser904_Glu905delins*						p.904_905SE>*	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2711_2713	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	83_84			Pro-rich.		E9PB06|Q8N4J6	In_Frame_Del	DEL	ENST00000418929.2	37	c.2711_2713delCGG	CCDS46143.1																																																																																				0.690	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	4	NA	NA	NA	NA	3	4	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153524304	153524305	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CV-7243-01A-11D-2012-08	TCGA-CV-7243-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bc6a2b7c-8a6c-4084-8551-8d1db9072ec2	b3d9813d-2810-4073-b4b8-5675f7105d87	g.chrX:153524304_153524305insGC	ENST00000369915.3	+	1	281_282	c.92_93insGC	c.(91-96)ttgcgafs	p.LR31fs	TEX28_ENST00000369926.1_5'Flank|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	31					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCAGCCGCTTGCGAATCCATT	0.614																																						uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(91-93)TTGfs		transketolase-like 1 isoform a																																				SO:0001589	frameshift_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153524304_153524305insGC	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.93_94dupGC	X.37:g.153524305_153524306dupGC	ENSP00000358931:p.Leu31fs					TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Frame_Shift_Ins_p.L31fs|TKTL1_uc011mzm.1_Frame_Shift_Ins_p.L31fs	p.L31fs	NM_012253	NP_036385	P51854	TKTL1_HUMAN			1	278_279	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		31					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Frame_Shift_Ins	INS	ENST00000369915.3	37	c.92_93insGC	CCDS35448.1																																																																																				0.614	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		30	129	NA	NA	NA	NA	30	129	---	---	---	---
