#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	i_dbSNP_AF	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
CAMTA1	23261	hgsc.bcm.edu	37	1	7723459	7723459	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:7723459C>T	ENST00000303635.7	+	9	1059	c.852C>T	c.(850-852)cgC>cgT	p.R284R	CAMTA1_ENST00000439411.2_Silent_p.R284R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCAAACACCGCATCATCTCGC	0.627			T	WWTR1	epitheliod hemangioendothelioma																																p.R284R		Atlas-SNP	.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1	226	.	0			c.C852T						.						128.0	126.0	127.0					1																	7723459		2203	4300	6503	SO:0001819	synonymous_variant	23261	exon9			ACACCGCATCATC	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.852C>T	chr1.hg19:g.7723459C>T		126.0	0.0		135.0	44.0	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	hg19	CCDS30576.1																																																																																			.	.		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
AADACL3	126767	hgsc.bcm.edu	37	1	12785194	12785194	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:12785194G>A	ENST00000359318.5	+	4	489	c.284G>A	c.(283-285)cGc>cAc	p.R95H	AADACL3_ENST00000332530.3_Missense_Mutation_p.R25H	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	95							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGTTACCGCAAGTTACCT	0.463																																					p.R95H		Atlas-SNP	.											AADACL3_ENST00000359318,colon,carcinoma,0,2	AADACL3	84	.	0			c.G284A						.						109.0	113.0	112.0					1																	12785194		1966	4154	6120	SO:0001583	missense	126767	exon4			GTTACCGCAAGTT		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.284G>A	chr1.hg19:g.12785194G>A	ENSP00000352268:p.Arg95His	114.0	0.0		136.0	36.0	NM_001103170	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	hg19	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484947	0.63962	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.22539	1.95;1.95	5.31	2.36	0.29203	Alpha/beta hydrolase fold-3 (1);	0.053408	0.64402	N	0.000001	T	0.58878	0.2153	H	0.99130	4.44	0.48571	D	0.999671	D;D	0.76494	0.999;0.999	D;P	0.66602	0.945;0.867	T	0.65100	-0.6250	10	0.72032	D	0.01	-15.1905	8.3834	0.32486	0.1432:0.1274:0.7294:0.0	.	95;25	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	H	25;95	ENSP00000333352:R25H;ENSP00000352268:R95H	ENSP00000333352:R25H	R	+	2	0	AADACL3	12707781	0.999000	0.42202	0.003000	0.11579	0.021000	0.10359	3.128000	0.50492	0.225000	0.20959	0.484000	0.47621	CGC	.	.		0.463	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170	
CAMK2N1	55450	hgsc.bcm.edu	37	1	20811831	20811831	+	Silent	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:20811831G>T	ENST00000375078.3	-	1	882	c.42C>A	c.(40-42)ccC>ccA	p.P14P	CAMK2N1_ENST00000489020.1_5'Flank	NM_018584.5	NP_061054.2	Q7Z7J9	CK2N1_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 1	14						cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	calcium-dependent protein kinase inhibitor activity (GO:0008427)			lung(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGTCGCCGTAGGGGCTCAGCT	0.741																																					p.P14P		Atlas-SNP	.											.	CAMK2N1	7	.	0			c.C42A						.						12.0	14.0	13.0					1																	20811831		2178	4272	6450	SO:0001819	synonymous_variant	55450	exon1			GCCGTAGGGGCTC	AY204901	CCDS207.1	1p36.12	2008-02-05			ENSG00000162545	ENSG00000162545			24190	protein-coding gene	gene with protein product		614986				12477932	Standard	NM_018584		Approved	CaMKIINalpha	uc001bdh.3	Q7Z7J9	OTTHUMG00000002837	ENST00000375078.3:c.42C>A	chr1.hg19:g.20811831G>T		42.0	0.0		43.0	14.0	NM_018584		Silent	SNP	ENST00000375078.3	hg19	CCDS207.1																																																																																			.	.		0.741	CAMK2N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007949.1	NM_018584	
USP1	7398	hgsc.bcm.edu	37	1	62916161	62916161	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:62916161A>C	ENST00000339950.4	+	9	2682	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q	USP1_ENST00000371146.1_Missense_Mutation_p.K623Q	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	623	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGAAATAGGTAAGCCAGAACC	0.383																																					p.K623Q	Ovarian(122;1846 2315 3982 19504)	Atlas-SNP	.											.	USP1	51	.	0			c.A1867C						.						77.0	71.0	73.0					1																	62916161		2203	4300	6503	SO:0001583	missense	7398	exon9			ATAGGTAAGCCAG		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1867A>C	chr1.hg19:g.62916161A>C	ENSP00000343526:p.Lys623Gln	114.0	0.0		113.0	38.0	NM_001017415	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	hg19	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	7.066	0.567283	0.13560	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.20069	2.1;2.1	5.64	5.64	0.86602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.298608	0.39615	N	0.001309	T	0.12008	0.0292	N	0.19112	0.55	0.29623	N	0.846055	P	0.34934	0.476	B	0.29267	0.1	T	0.13388	-1.0511	10	0.19147	T	0.46	-16.413	11.7424	0.51801	0.8682:0.0:0.0:0.1318	.	623	O94782	UBP1_HUMAN	Q	623	ENSP00000360188:K623Q;ENSP00000343526:K623Q	ENSP00000343526:K623Q	K	+	1	0	USP1	62688749	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.977000	0.49297	2.367000	0.80283	0.528000	0.53228	AAG	.	.		0.383	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415	
RPE65	6121	hgsc.bcm.edu	37	1	68897225	68897225	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:68897225G>A	ENST00000262340.5	-	11	1225	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	391					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AATTGCAGTGGCAGTTGTATT	0.473																																					p.A391V		Atlas-SNP	.											.	RPE65	87	.	0			c.C1172T						.						59.0	63.0	61.0					1																	68897225		2203	4300	6503	SO:0001583	missense	6121	exon11			GCAGTGGCAGTTG	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1172C>T	chr1.hg19:g.68897225G>A	ENSP00000262340:p.Ala391Val	80.0	0.0		89.0	29.0	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	hg19	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225860	0.58668	.	.	ENSG00000116745	ENST00000262340	D	0.95788	-3.81	5.14	4.21	0.49690	.	0.093292	0.64402	D	0.000001	D	0.97455	0.9167	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	D	0.97214	0.9873	10	0.45353	T	0.12	1.2949	14.8555	0.70332	0.0:0.0:0.8552:0.1448	.	391	Q16518	RPE65_HUMAN	V	391	ENSP00000262340:A391V	ENSP00000262340:A391V	A	-	2	0	RPE65	68669813	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.300000	0.96151	1.138000	0.42230	0.561000	0.74099	GCC	.	.		0.473	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
GJA8	2703	hgsc.bcm.edu	37	1	147380859	147380859	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:147380859C>T	ENST00000369235.1	+	1	777	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GJA8_ENST00000240986.4_Silent_p.S259S			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	259					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CTGTCTCCTCCATCCAGAAAG	0.562																																					p.S259S	Melanoma(76;1255 1795 8195 52096)	Atlas-SNP	.											.	GJA8	108	.	0			c.C777T						.						50.0	52.0	52.0					1																	147380859		2203	4300	6503	SO:0001819	synonymous_variant	2703	exon2			CTCCTCCATCCAG	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.777C>T	chr1.hg19:g.147380859C>T		72.0	0.0		110.0	39.0	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	hg19	CCDS30834.1																																																																																			.	.		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204394000	204394000	+	Nonsense_Mutation	SNP	G	G	A	rs376434764		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:204394000G>A	ENST00000367187.3	-	34	5441	c.4885C>T	c.(4885-4887)Cga>Tga	p.R1629*	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.R1601*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1629					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCATGACTTCGAGATCCCAGG	0.637																																					p.R1629X		Atlas-SNP	.											.	PIK3C2B	142	.	0			c.C4885T						.	G	stop/ARG	0,4406		0,0,2203	60.0	56.0	57.0		4885	4.6	1.0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PIK3C2B	NM_002646.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1629/1635	204394000	1,13005	2203	4300	6503	SO:0001587	stop_gained	5287	exon34			GACTTCGAGATCC	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4885C>T	chr1.hg19:g.204394000G>A	ENSP00000356155:p.Arg1629*	106.0	0.0		117.0	50.0	NM_002646	O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	47	13.369480	0.99738	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.46	4.55	0.56014	.	0.278501	0.32563	N	0.005934	.	.	.	.	.	.	0.38154	D	0.938836	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.7339	0.40376	0.074:0.0:0.7862:0.1398	.	.	.	.	X	1629;1601	.	ENSP00000356155:R1629X	R	-	1	2	PIK3C2B	202660623	1.000000	0.71417	0.963000	0.40424	0.531000	0.34715	2.863000	0.48396	1.315000	0.45114	0.655000	0.94253	CGA	.	.		0.637	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
OR14A16	284532	hgsc.bcm.edu	37	1	247978151	247978151	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr1:247978151A>G	ENST00000357627.1	-	1	880	c.881T>C	c.(880-882)aTa>aCa	p.I294T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGCCACCTTTATGGCCTTGTT	0.373																																					p.I294T	Ovarian(112;180 1586 15073 21914 33526)	Atlas-SNP	.											.	OR14A16	90	.	0			c.T881C						.						61.0	59.0	60.0					1																	247978151		2203	4300	6503	SO:0001583	missense	284532	exon1			ACCTTTATGGCCT	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.881T>C	chr1.hg19:g.247978151A>G	ENSP00000350248:p.Ile294Thr	139.0	0.0		150.0	31.0	NM_001001966	Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	hg19	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405587	0.25378	.	.	ENSG00000196772	ENST00000357627	T	0.39406	1.08	3.69	3.69	0.42338	.	0.526499	0.16954	U	0.192742	T	0.48732	0.1516	M	0.87971	2.92	0.25068	N	0.991012	P	0.34587	0.458	B	0.32677	0.15	T	0.53457	-0.8436	10	0.87932	D	0	.	12.3272	0.55018	1.0:0.0:0.0:0.0	.	294	Q8NHC5	O14AG_HUMAN	T	294	ENSP00000350248:I294T	ENSP00000350248:I294T	I	-	2	0	OR14A16	246044774	0.271000	0.24162	0.135000	0.22099	0.303000	0.27691	5.962000	0.70364	1.570000	0.49709	0.486000	0.48141	ATA	.	.		0.373	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966	
MYT1L	23040	hgsc.bcm.edu	37	2	1926429	1926429	+	Missense_Mutation	SNP	G	G	A	rs573013583		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:1926429G>A	ENST00000399161.2	-	10	1859	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	MYT1L_ENST00000428368.2_Missense_Mutation_p.T371M	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	371					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTGTCCGGCGTCCTTCCGGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19981	0.0		0.001	False		,,,				2504	0.0				p.T371M		Atlas-SNP	.											.	MYT1L	241	.	0			c.C1112T						.						35.0	39.0	37.0					2																	1926429		2097	4221	6318	SO:0001583	missense	23040	exon10			TCCGGCGTCCTTC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1112C>T	chr2.hg19:g.1926429G>A	ENSP00000382114:p.Thr371Met	84.0	0.0		98.0	35.0	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	hg19		.	.	.	.	.	.	.	.	.	.	G	14.97	2.694323	0.48202	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.48522	0.81;0.81	5.86	5.86	0.93980	.	0.120915	0.53938	D	0.000051	T	0.34861	0.0912	L	0.27053	0.805	0.48185	D	0.999605	P;P	0.39480	0.546;0.675	B;B	0.25140	0.026;0.058	T	0.29882	-0.9997	10	0.56958	D	0.05	-36.759	20.1802	0.98196	0.0:0.0:1.0:0.0	.	371;371	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	M	371;319;371	ENSP00000382114:T371M;ENSP00000396103:T371M	ENSP00000295067:T319M	T	-	2	0	MYT1L	1905436	1.000000	0.71417	0.572000	0.28498	0.945000	0.59286	5.870000	0.69620	2.777000	0.95525	0.655000	0.94253	ACG	.	.		0.602	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
MAP4K3	8491	hgsc.bcm.edu	37	2	39481600	39481600	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:39481600T>A	ENST00000263881.3	-	32	2856	c.2532A>T	c.(2530-2532)agA>agT	p.R844S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.R760S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.R823S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.R397S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	844	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCTCATTAGATCTAAAACTTC	0.358																																					p.R844S		Atlas-SNP	.											.	MAP4K3	109	.	0			c.A2532T						.						181.0	167.0	172.0					2																	39481600		2203	4300	6503	SO:0001583	missense	8491	exon32			ATTAGATCTAAAA	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2532A>T	chr2.hg19:g.39481600T>A	ENSP00000263881:p.Arg844Ser	90.0	0.0		88.0	33.0	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	hg19	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.331919	0.41297	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	4.63	2.25	0.28309	Citron-like (3);	0.045134	0.85682	D	0.000000	T	0.04815	0.0130	L	0.42245	1.32	0.48975	D	0.999732	B;B	0.32893	0.115;0.389	B;B	0.32980	0.043;0.156	T	0.48514	-0.9029	10	0.33940	T	0.23	.	7.9665	0.30102	0.0:0.2407:0.0:0.7593	.	823;844	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	844;760;823;140;397	ENSP00000263881:R844S;ENSP00000416958:R760S;ENSP00000345434:R823S;ENSP00000440580:R397S	ENSP00000263881:R844S	R	-	3	2	MAP4K3	39335104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.132000	0.31418	0.314000	0.23086	0.455000	0.32223	AGA	.	.		0.358	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
ALMS1	7840	hgsc.bcm.edu	37	2	73799982	73799982	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:73799982G>A	ENST00000264448.6	+	16	11086	c.10975G>A	c.(10975-10977)Gtg>Atg	p.V3659M	ALMS1_ENST00000409009.1_Missense_Mutation_p.V3617M	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3659					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGAACGAAGTGTGAAGGAATG	0.418																																					p.V3659M		Atlas-SNP	.											.	ALMS1	384	.	0			c.G10975A						.						137.0	132.0	133.0					2																	73799982		1897	4117	6014	SO:0001583	missense	7840	exon16			CGAAGTGTGAAGG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.10975G>A	chr2.hg19:g.73799982G>A	ENSP00000264448:p.Val3659Met	98.0	0.0		150.0	37.0	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	2.290	-0.362760	0.05103	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06218	3.33;3.33	4.75	-5.2	0.02823	.	2.240310	0.01860	N	0.036529	T	0.04497	0.0123	L	0.29908	0.895	0.09310	N	1	B;B;B	0.22146	0.026;0.065;0.012	B;B;B	0.19148	0.022;0.022;0.024	T	0.32666	-0.9898	10	0.49607	T	0.09	.	0.9696	0.01413	0.3828:0.1133:0.282:0.2218	.	3659;3617;3659	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	M	3617;3659	ENSP00000386627:V3617M;ENSP00000264448:V3659M	ENSP00000264448:V3659M	V	+	1	0	ALMS1	73653490	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.039000	0.12124	-1.332000	0.02249	-0.137000	0.14449	GTG	.	.		0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
PLA2R1	22925	hgsc.bcm.edu	37	2	160840493	160840493	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:160840493G>T	ENST00000283243.7	-	13	2335	c.2129C>A	c.(2128-2130)gCc>gAc	p.A710D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.A710D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	710	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTCAATATGGGCAAAGCTTGC	0.313																																					p.A710D		Atlas-SNP	.											.	PLA2R1	153	.	0			c.C2129A						.						58.0	61.0	60.0					2																	160840493		2202	4300	6502	SO:0001583	missense	22925	exon13			ATATGGGCAAAGC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2129C>A	chr2.hg19:g.160840493G>T	ENSP00000283243:p.Ala710Asp	195.0	0.0		205.0	69.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609786	0.66558	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.15487	2.42;2.42	5.68	3.83	0.44106	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.216367	0.44097	D	0.000495	T	0.13756	0.0333	N	0.08118	0	0.35759	D	0.820054	P;P;P	0.52061	0.578;0.95;0.916	P;P;P	0.51701	0.491;0.653;0.677	T	0.14254	-1.0479	10	0.11794	T	0.64	.	15.5049	0.75731	0.0:0.2619:0.7381:0.0	.	710;710;710	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	D	710	ENSP00000283243:A710D;ENSP00000376524:A710D	ENSP00000283243:A710D	A	-	2	0	PLA2R1	160548739	0.991000	0.36638	0.995000	0.50966	0.990000	0.78478	1.540000	0.36115	0.825000	0.34637	0.650000	0.86243	GCC	.	.		0.313	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
UNC80	285175	hgsc.bcm.edu	37	2	210696272	210696272	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:210696272G>T	ENST00000439458.1	+	16	2812	c.2732G>T	c.(2731-2733)cGc>cTc	p.R911L	UNC80_ENST00000272845.6_Missense_Mutation_p.R906L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	911					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTCATCACACGCTGCGCTTCA	0.493																																					p.R911L		Atlas-SNP	.											UNC80_ENST00000439458,NS,carcinoma,+1,1	UNC80	280	.	0			c.G2732T						.						171.0	132.0	144.0					2																	210696272		692	1591	2283	SO:0001583	missense	285175	exon16			TCACACGCTGCGC	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.2732G>T	chr2.hg19:g.210696272G>T	ENSP00000391088:p.Arg911Leu	181.0	0.0		209.0	67.0	NM_032504	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	hg19	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395419	0.96009	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.47869	0.84;0.83	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.57536	1.79	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.68853	-0.5299	10	0.87932	D	0	-16.7589	19.7233	0.96151	0.0:0.0:1.0:0.0	.	911	Q8N2C7	UNC80_HUMAN	L	911;906	ENSP00000391088:R911L;ENSP00000272845:R906L	ENSP00000272845:R906L	R	+	2	0	UNC80	210404517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.653000	0.90120	0.563000	0.77884	CGC	.	.		0.493	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
CEP70	80321	hgsc.bcm.edu	37	3	138289885	138289885	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr3:138289885T>C	ENST00000264982.3	-	5	541	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	CEP70_ENST00000484888.1_Missense_Mutation_p.Q92R|CEP70_ENST00000542237.1_Missense_Mutation_p.Q72R|CEP70_ENST00000464035.1_Missense_Mutation_p.Q92R|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.Q92R	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	92					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCTAAGCTGTTGATTAGTTTC	0.318																																					p.Q92R		Atlas-SNP	.											.	CEP70	51	.	0			c.A275G						.						89.0	89.0	89.0					3																	138289885		2202	4296	6498	SO:0001583	missense	80321	exon5			AGCTGTTGATTAG	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.275A>G	chr3.hg19:g.138289885T>C	ENSP00000264982:p.Gln92Arg	182.0	0.0		210.0	61.0	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	hg19	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	4.858	0.159569	0.09287	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	T;T;T;T;T;T;T;T	0.42513	1.58;1.58;1.58;1.58;1.57;0.99;0.99;0.97	5.06	5.06	0.68205	.	0.278002	0.34603	N	0.003835	T	0.31979	0.0814	L	0.40543	1.245	0.27915	N	0.938477	B;B;B	0.27416	0.078;0.002;0.178	B;B;B	0.28011	0.037;0.007;0.085	T	0.17440	-1.0369	10	0.14656	T	0.56	-2.1262	11.1119	0.48237	0.0:0.0:0.0:1.0	.	72;92;92	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	R	92;72;92;74;92;71;72;92;92	ENSP00000264982:Q92R;ENSP00000444128:Q72R;ENSP00000419231:Q92R;ENSP00000419833:Q74R;ENSP00000417465:Q92R;ENSP00000418131:Q71R;ENSP00000417819:Q72R;ENSP00000419743:Q92R	ENSP00000264982:Q92R	Q	-	2	0	CEP70	139772575	0.973000	0.33851	0.972000	0.41901	0.253000	0.25986	1.946000	0.40283	2.114000	0.64651	0.533000	0.62120	CAA	.	.		0.318	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
FOXL2NB	401089	hgsc.bcm.edu	37	3	138669208	138669208	+	Missense_Mutation	SNP	G	G	A	rs530645680		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr3:138669208G>A	ENST00000383165.3	+	3	453	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		108										large_intestine(1)|lung(3)	4						GGCAGGCAGCGCTTCGCTAGA	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		12866	0.0		0.0	False		,,,				2504	0.001				p.A108T		Atlas-SNP	.											.	C3orf72	13	.	0			c.G322A						.						12.0	17.0	16.0					3																	138669208		1820	4050	5870	SO:0001583	missense	401089	exon3			GGCAGCGCTTCGC																												ENST00000383165.3:c.322G>A	chr3.hg19:g.138669208G>A	ENSP00000372651:p.Ala108Thr	51.0	0.0		76.0	26.0	NM_001040061	A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	hg19	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856431	0.51376	.	.	ENSG00000206262	ENST00000383165	.	.	.	2.91	0.903	0.19296	.	.	.	.	.	T	0.24392	0.0591	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.50825	0.651	T	0.11494	-1.0585	8	0.87932	D	0	.	5.0631	0.14568	0.0:0.2371:0.5195:0.2434	.	108	Q6ZUU3	CC072_HUMAN	T	108	.	ENSP00000372651:A108T	A	+	1	0	C3orf72	140151898	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	0.500000	0.22562	0.210000	0.20664	0.555000	0.69702	GCT	.	.		0.706	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
PTPN13	5783	hgsc.bcm.edu	37	4	87701601	87701601	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr4:87701601G>A	ENST00000411767.2	+	36	6001	c.5938G>A	c.(5938-5940)Gct>Act	p.A1980T	PTPN13_ENST00000511467.1_Missense_Mutation_p.A1985T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1789T|PTPN13_ENST00000436978.1_Missense_Mutation_p.A1985T|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1961T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1980					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGCTGTTTCAGCTCCAAAGTC	0.403																																					p.A1985T		Atlas-SNP	.											.	PTPN13	203	.	0			c.G5953A						.						70.0	69.0	69.0					4																	87701601		1889	4113	6002	SO:0001583	missense	5783	exon36			GTTTCAGCTCCAA		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5938G>A	chr4.hg19:g.87701601G>A	ENSP00000407249:p.Ala1980Thr	74.0	0.0		84.0	34.0	NM_080685	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	5.117	0.207209	0.09704	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.51071	0.72;0.75;0.82;0.72;0.75	5.16	-0.0944	0.13645	.	1.282590	0.05795	N	0.611054	T	0.26159	0.0638	N	0.19112	0.55	0.18873	N	0.999985	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.09377	0.001;0.004;0.002;0.004	T	0.14839	-1.0458	10	0.07813	T	0.8	.	3.3326	0.07089	0.5:0.0:0.3255:0.1746	.	1789;1961;1980;1985	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	1961;1985;1789;1980;1985;1929	ENSP00000408368:A1961T;ENSP00000394794:A1985T;ENSP00000322675:A1789T;ENSP00000407249:A1980T;ENSP00000426626:A1985T	ENSP00000322675:A1789T	A	+	1	0	PTPN13	87920625	0.513000	0.26194	0.073000	0.20177	0.842000	0.47809	0.544000	0.23253	-0.242000	0.09667	-0.482000	0.04802	GCT	.	.		0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
NDST4	64579	hgsc.bcm.edu	37	4	115773896	115773896	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr4:115773896C>G	ENST00000264363.2	-	8	2479	c.1801G>C	c.(1801-1803)Ggt>Cgt	p.G601R		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	601	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTTGTGGACCAATTACTAGA	0.308																																					p.G601R		Atlas-SNP	.											.	NDST4	193	.	0			c.G1801C						.						134.0	130.0	132.0					4																	115773896		2203	4299	6502	SO:0001583	missense	64579	exon8			GTGGACCAATTAC	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1801G>C	chr4.hg19:g.115773896C>G	ENSP00000264363:p.Gly601Arg	132.0	0.0		133.0	40.0	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770039	0.90020	.	.	ENSG00000138653	ENST00000264363	T	0.80909	-1.43	5.58	5.58	0.84498	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95404	0.8492	10	0.87932	D	0	.	19.5672	0.95398	0.0:1.0:0.0:0.0	.	601	Q9H3R1	NDST4_HUMAN	R	601	ENSP00000264363:G601R	ENSP00000264363:G601R	G	-	1	0	NDST4	115993345	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	7.476000	0.81055	2.616000	0.88540	0.655000	0.94253	GGT	.	.		0.308	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
IRX1	79192	hgsc.bcm.edu	37	5	3599546	3599546	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:3599546A>G	ENST00000302006.3	+	2	536	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	162					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGAGAAGATCATGCTGGCCAT	0.637																																					p.M162V		Atlas-SNP	.											.	IRX1	106	.	0			c.A484G						.						166.0	129.0	141.0					5																	3599546		2203	4300	6503	SO:0001583	missense	79192	exon2			AAGATCATGCTGG	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.484A>G	chr5.hg19:g.3599546A>G	ENSP00000305244:p.Met162Val	123.0	0.0		117.0	43.0	NM_024337	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	hg19	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879169	0.72294	.	.	ENSG00000170549	ENST00000302006	D	0.91237	-2.81	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.080102	0.85682	D	0.000000	D	0.92482	0.7613	L	0.43757	1.38	0.80722	D	1	D	0.59357	0.985	D	0.64506	0.926	D	0.93328	0.6698	10	0.87932	D	0	.	14.0584	0.64784	1.0:0.0:0.0:0.0	.	162	P78414	IRX1_HUMAN	V	162	ENSP00000305244:M162V	ENSP00000305244:M162V	M	+	1	0	IRX1	3652546	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.018000	0.93657	1.765000	0.52091	0.533000	0.62120	ATG	.	.		0.637	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
RANBP3L	202151	hgsc.bcm.edu	37	5	36253830	36253830	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:36253830C>A	ENST00000296604.3	-	12	1571	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	RANBP3L_ENST00000502994.1_Missense_Mutation_p.K387N	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	362	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTCTTTGAATCTTCATTTGGG	0.383																																					p.K387N		Atlas-SNP	.											.	RANBP3L	41	.	0			c.G1161T						.						182.0	166.0	172.0					5																	36253830		2203	4299	6502	SO:0001583	missense	202151	exon13			TTGAATCTTCATT	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1086G>T	chr5.hg19:g.36253830C>A	ENSP00000296604:p.Lys362Asn	109.0	0.0		137.0	37.0	NM_001161429	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	hg19	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471389	0.43942	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.45668	0.89;0.89	5.18	3.35	0.38373	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.452234	0.22560	N	0.058474	T	0.34454	0.0898	L	0.54323	1.7	0.80722	D	1	B;P	0.35226	0.105;0.491	B;B	0.37780	0.117;0.258	T	0.05500	-1.0881	10	0.19590	T	0.45	-0.0595	5.8693	0.18795	0.0:0.5323:0.3023:0.1654	.	387;362	E9PGP9;Q86VV4	.;RNB3L_HUMAN	N	362;387	ENSP00000296604:K362N;ENSP00000421853:K387N	ENSP00000296604:K362N	K	-	3	2	RANBP3L	36289587	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.842000	0.27627	0.660000	0.30964	0.557000	0.71058	AAG	.	.		0.383	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	
LNPEP	4012	hgsc.bcm.edu	37	5	96350727	96350727	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:96350727C>T	ENST00000231368.5	+	13	2996	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A	LNPEP_ENST00000395770.3_Silent_p.A754A	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	768					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCACCGAAGCCCTGTTTCAGA	0.443																																					p.A768A		Atlas-SNP	.											LNPEP,NS,carcinoma,0,1	LNPEP	80	.	0			c.C2304T						.						123.0	115.0	118.0					5																	96350727		2203	4300	6503	SO:0001819	synonymous_variant	4012	exon13			CGAAGCCCTGTTT	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2304C>T	chr5.hg19:g.96350727C>T		114.0	0.0		152.0	13.0	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	hg19	CCDS4087.1																																																																																			.	.		0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
PHAX	51808	hgsc.bcm.edu	37	5	125944167	125944167	+	Silent	SNP	C	C	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:125944167C>A	ENST00000297540.4	+	3	1517	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	274	Necessary for interaction with CBP80. {ECO:0000250}.|Sufficient for poly U RNA-binding.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ATGGTGGTCTCTTTATAATGG	0.348																																					p.L274L		Atlas-SNP	.											.	PHAX	20	.	0			c.C822A						.						144.0	152.0	149.0					5																	125944167		2203	4300	6503	SO:0001819	synonymous_variant	51808	exon3			TGGTCTCTTTATA	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.822C>A	chr5.hg19:g.125944167C>A		56.0	0.0		79.0	20.0	NM_032177	Q9H8W1	Silent	SNP	ENST00000297540.4	hg19	CCDS4138.1																																																																																			.	.		0.348	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
SLC27A6	28965	hgsc.bcm.edu	37	5	128364118	128364118	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:128364118A>T	ENST00000262462.4	+	8	2545	c.1535A>T	c.(1534-1536)tAt>tTt	p.Y512F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.Y512F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.Y512F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	512					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCAAACGTCTATGGTGTGGCT	0.338																																					p.Y512F		Atlas-SNP	.											.	SLC27A6	112	.	0			c.A1535T						.						83.0	81.0	81.0					5																	128364118		2203	4300	6503	SO:0001583	missense	28965	exon8			ACGTCTATGGTGT	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1535A>T	chr5.hg19:g.128364118A>T	ENSP00000262462:p.Tyr512Phe	67.0	0.0		70.0	17.0	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	hg19	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688646	0.68271	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.58358	0.34;0.34;0.34	4.55	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.89414	3.03	0.43342	D	0.995399	D	0.89917	1.0	D	0.97110	1.0	T	0.77264	-0.2652	9	.	.	.	0.5469	10.8411	0.46715	0.9243:0.0:0.0757:0.0	.	512	Q9Y2P4	S27A6_HUMAN	F	512	ENSP00000262462:Y512F;ENSP00000378684:Y512F;ENSP00000421024:Y512F	.	Y	+	2	0	SLC27A6	128392017	1.000000	0.71417	0.626000	0.29213	0.788000	0.44548	6.898000	0.75676	1.063000	0.40649	0.455000	0.32223	TAT	.	.		0.338	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
PCDHA12	56137	hgsc.bcm.edu	37	5	140255085	140255085	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:140255085G>C	ENST00000398631.2	+	1	28	c.28G>C	c.(28-30)Gga>Cga	p.G10R	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCCCGGGATCCCAGCG	0.567																																					p.G10R	Pancreas(113;759 1672 13322 24104 50104)	Atlas-SNP	.											.	PCDHA12	196	.	0			c.G28C						.						34.0	39.0	38.0					5																	140255085		2194	4294	6488	SO:0001583	missense	56137	exon1			GGCCCGGGATCCC	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.28G>C	chr5.hg19:g.140255085G>C	ENSP00000381628:p.Gly10Arg	49.0	0.0		92.0	33.0	NM_018903	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	hg19	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	7.643	0.681376	0.14907	.	.	ENSG00000251664	ENST00000398631	T	0.49432	0.78	5.28	1.98	0.26296	.	.	.	.	.	T	0.26557	0.0649	N	0.10837	0.055	0.09310	N	1	B;B	0.19445	0.036;0.024	B;B	0.22880	0.042;0.027	T	0.24835	-1.0149	9	0.20046	T	0.44	.	9.0754	0.36517	0.3377:0.0:0.6623:0.0	.	10;10	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	R	10	ENSP00000381628:G10R	ENSP00000381628:G10R	G	+	1	0	PCDHA12	140235269	0.098000	0.21812	0.000000	0.03702	0.008000	0.06430	1.044000	0.30329	0.065000	0.16485	-0.345000	0.07892	GGA	.	.		0.567	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
EBF1	1879	hgsc.bcm.edu	37	5	158158157	158158157	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr5:158158157C>G	ENST00000313708.6	-	11	1327	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	EBF1_ENST00000517373.1_Missense_Mutation_p.E341Q|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E318Q	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	349					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGTGGGTTCGTTGAGCGCT	0.448			T	HMGA2	lipoma																																p.E349Q		Atlas-SNP	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1	110	.	0			c.G1045C						.						60.0	62.0	61.0					5																	158158157		2203	4300	6503	SO:0001583	missense	1879	exon11			TGGGTTCGTTGAG	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1045G>C	chr5.hg19:g.158158157C>G	ENSP00000322898:p.Glu349Gln	53.0	0.0		84.0	30.0	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	hg19	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708625	0.89018	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.47177	0.85;0.85;0.85	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.76494	0.997;0.986;0.999;0.969	P;P;D;P	0.64321	0.846;0.89;0.924;0.684	T	0.74728	-0.3567	10	0.54805	T	0.06	-5.0504	19.7818	0.96418	0.0:1.0:0.0:0.0	.	349;336;349;318	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	Q	349;349;318;341	ENSP00000322898:E349Q;ENSP00000370029:E318Q;ENSP00000428020:E341Q	ENSP00000322898:E349Q	E	-	1	0	EBF1	158090735	1.000000	0.71417	0.960000	0.40013	0.806000	0.45545	7.445000	0.80570	2.736000	0.93811	0.655000	0.94253	GAA	.	.		0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
PRRT1	80863	hgsc.bcm.edu	37	6	32117487	32117487	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr6:32117487C>T	ENST00000211413.5	-	3	695	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	PRRT1_ENST00000375152.2_Missense_Mutation_p.G110R|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.G110R	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	191					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CCCGGGGTCCCGCCTGCATAT	0.667																																					p.G191R		Atlas-SNP	.											.	PRRT1	14	.	0			c.G571A						.						10.0	13.0	12.0					6																	32117487		1491	2686	4177	SO:0001583	missense	80863	exon3			GGGTCCCGCCTGC	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.571G>A	chr6.hg19:g.32117487C>T	ENSP00000211413:p.Gly191Arg	28.0	0.0		33.0	12.0	NM_030651	A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	hg19	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365899	0.41902	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.90620	-2.67;-2.7;-2.7	4.8	4.8	0.61643	.	.	.	.	.	D	0.86548	0.5959	N	0.14661	0.345	0.37152	D	0.902203	D;D	0.89917	1.0;1.0	D;D	0.74348	0.926;0.983	D	0.86295	0.1676	9	0.27082	T	0.32	-0.0271	13.3504	0.60599	0.0:1.0:0.0:0.0	.	191;110	Q99946;Q99946-2	PRRT1_HUMAN;.	R	191;110;110	ENSP00000211413:G191R;ENSP00000364292:G110R;ENSP00000364294:G110R	ENSP00000211413:G191R	G	-	1	0	PRRT1	32225465	0.995000	0.38212	1.000000	0.80357	0.789000	0.44602	2.351000	0.44071	2.225000	0.72522	0.557000	0.71058	GGG	.	.		0.667	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651	
SLC29A1	2030	hgsc.bcm.edu	37	6	44197695	44197695	+	Silent	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr6:44197695G>T	ENST00000393841.1	+	6	857	c.366G>T	c.(364-366)gtG>gtT	p.V122V	SLC29A1_ENST00000371724.1_Silent_p.V122V|SLC29A1_ENST00000371740.5_Silent_p.V122V|SLC29A1_ENST00000313248.7_Silent_p.V201V|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Silent_p.V122V|SLC29A1_ENST00000371708.1_Silent_p.V122V|SLC29A1_ENST00000427851.2_Silent_p.V122V|SLC29A1_ENST00000371755.3_Silent_p.V122V|SLC29A1_ENST00000371713.1_Silent_p.V122V|SLC29A1_ENST00000393844.1_Silent_p.V122V	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	122					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCCTGCTGGTGTTTCTGATCA	0.582																																					p.V122V		Atlas-SNP	.											.	SLC29A1	45	.	0			c.G366T						.						64.0	54.0	58.0					6																	44197695		2203	4300	6503	SO:0001819	synonymous_variant	2030	exon5			GCTGGTGTTTCTG	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.366G>T	chr6.hg19:g.44197695G>T		57.0	0.0		68.0	23.0	NM_004955	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	hg19	CCDS4908.1																																																																																			.	.		0.582	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		
EYS	346007	hgsc.bcm.edu	37	6	65301374	65301374	+	Silent	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr6:65301374A>G	ENST00000370621.3	-	26	4912	c.4386T>C	c.(4384-4386)tcT>tcC	p.S1462S	EYS_ENST00000503581.1_Silent_p.S1462S|EYS_ENST00000370616.2_Silent_p.S1462S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1462					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAGCCCCCCTAGAGACAACTG	0.463																																					p.S1462S		Atlas-SNP	.											.	EYS	527	.	0			c.T4386C						.						57.0	56.0	57.0					6																	65301374		692	1591	2283	SO:0001819	synonymous_variant	346007	exon26			CCCCCTAGAGACA		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4386T>C	chr6.hg19:g.65301374A>G		79.0	0.0		79.0	22.0	NM_001142800	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	hg19																																																																																				.	.		0.463	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
FILIP1	27145	hgsc.bcm.edu	37	6	76124503	76124503	+	Silent	SNP	A	A	T	rs554060815		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr6:76124503A>T	ENST00000237172.7	-	2	516	c.186T>A	c.(184-186)tcT>tcA	p.S62S	FILIP1_ENST00000393004.2_Silent_p.S62S	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	62										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACATTCTCCAGATGTTTTTA	0.398																																					p.S62S		Atlas-SNP	.											.	FILIP1	173	.	0			c.T186A						.						234.0	229.0	231.0					6																	76124503		2203	4300	6503	SO:0001819	synonymous_variant	27145	exon2			TTCTCCAGATGTT	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.186T>A	chr6.hg19:g.76124503A>T		219.0	0.0		244.0	67.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	hg19	CCDS4984.1																																																																																			.	.		0.398	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
GET4	51608	hgsc.bcm.edu	37	7	930603	930603	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:930603T>G	ENST00000265857.3	+	5	599	c.505T>G	c.(505-507)Tca>Gca	p.S169A	GET4_ENST00000407192.1_Missense_Mutation_p.S116A	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	169					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTCTGCACTCAGCGGACGG	0.498																																					p.S169A		Atlas-SNP	.											.	GET4	17	.	0			c.T505G						.						130.0	121.0	124.0					7																	930603		2203	4300	6503	SO:0001583	missense	51608	exon5			CTGCACTCAGCGG	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.505T>G	chr7.hg19:g.930603T>G	ENSP00000265857:p.Ser169Ala	148.0	0.0		186.0	56.0	NM_015949	A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	hg19	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	t	13.65	2.299715	0.40694	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000426056	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	L	0.60957	1.885	0.54753	D	0.999982	D	0.57257	0.979	P	0.59487	0.858	T	0.63207	-0.6689	9	0.18276	T	0.48	-22.1134	14.8892	0.70594	0.0:0.0:0.0:1.0	.	169	Q7L5D6	GET4_HUMAN	A	169;123;116;130	.	ENSP00000265857:S169A	S	+	1	0	GET4	897129	1.000000	0.71417	0.993000	0.49108	0.026000	0.11368	5.859000	0.69539	1.940000	0.56252	0.398000	0.26397	TCA	.	.		0.498	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949	
SCIN	85477	hgsc.bcm.edu	37	7	12610490	12610490	+	Silent	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:12610490G>A	ENST00000297029.5	+	1	179	c.78G>A	c.(76-78)aaG>aaA	p.K26K	AC005281.2_ENST00000433040.1_RNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	26	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGATTGAGAAGCTGGAGCTGG	0.672																																					p.K26K		Atlas-SNP	.											.	SCIN	105	.	0			c.G78A						.						28.0	43.0	38.0					7																	12610490		692	1591	2283	SO:0001819	synonymous_variant	85477	exon1			TGAGAAGCTGGAG	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.78G>A	chr7.hg19:g.12610490G>A		87.0	0.0		69.0	15.0	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	hg19	CCDS47545.1																																																																																			.	.		0.672	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
SP4	6671	hgsc.bcm.edu	37	7	21521737	21521737	+	Silent	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:21521737T>C	ENST00000222584.3	+	5	2321	c.2103T>C	c.(2101-2103)caT>caC	p.H701H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	701					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGAACCCATACAGGTTAGT	0.348																																					p.H701H		Atlas-SNP	.											.	SP4	91	.	0			c.T2103C						.						108.0	105.0	106.0					7																	21521737		2203	4300	6503	SO:0001819	synonymous_variant	6671	exon5			AACCCATACAGGT		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2103T>C	chr7.hg19:g.21521737T>C		135.0	0.0		156.0	53.0	NM_003112	O60402|Q32M52	Silent	SNP	ENST00000222584.3	hg19	CCDS5373.1																																																																																			.	.		0.348	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
CROT	54677	hgsc.bcm.edu	37	7	86986879	86986879	+	Intron	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:86986879T>C	ENST00000331536.3	+	4	300				CROT_ENST00000419147.2_Silent_p.L58L|CROT_ENST00000442291.1_Intron|CROT_ENST00000412227.2_Intron	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	gagagggttcttggatctcac	0.483																																					p.L58L		Atlas-SNP	.											.	CROT	81	.	0			c.T172C						.						117.0	100.0	105.0					7																	86986879		692	1591	2283	SO:0001627	intron_variant	54677	exon4			GGGTTCTTGGATC		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.116-1643T>C	chr7.hg19:g.86986879T>C		28.0	0.0		32.0	9.0	NM_001143935	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	hg19	CCDS5604.1																																																																																			.	.		0.483	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
C7orf43	55262	hgsc.bcm.edu	37	7	99754128	99754128	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:99754128G>T	ENST00000316937.3	-	8	1306	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D	C7orf43_ENST00000457641.1_Missense_Mutation_p.A105D|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_Missense_Mutation_p.A142D|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000394035.2_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	374										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTACAAGAAGCGGTCATCAC	0.567																																					p.A374D		Atlas-SNP	.											.	C7orf43	28	.	0			c.C1121A						.						85.0	81.0	82.0					7																	99754128		2203	4300	6503	SO:0001583	missense	55262	exon8			CAAGAAGCGGTCA		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1121C>A	chr7.hg19:g.99754128G>T	ENSP00000324741:p.Ala374Asp	81.0	0.0		118.0	5.0	NM_018275	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	hg19	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658333	0.88154	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.60171	0.28;0.21;0.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65749	0.2721	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.69363	-0.5165	10	0.87932	D	0	-10.0996	17.3306	0.87262	0.0:0.0:1.0:0.0	.	142;374	E9PFF9;Q8WVR3	.;CG043_HUMAN	D	105;374;142	ENSP00000396432:A105D;ENSP00000324741:A374D;ENSP00000406326:A142D	ENSP00000324741:A374D	A	-	2	0	C7orf43	99592064	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.650000	0.91073	2.702000	0.92279	0.561000	0.74099	GCT	.	.		0.567	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275	
ZC3HAV1	56829	hgsc.bcm.edu	37	7	138761070	138761070	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:138761070C>T	ENST00000242351.5	-	6	1975	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	ZC3HAV1_ENST00000464606.1_Silent_p.E675E|ZC3HAV1_ENST00000471652.1_Silent_p.E553E	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	553					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTCGATCGTCTCCATGTGCT	0.478																																					p.E553E		Atlas-SNP	.											.	ZC3HAV1	75	.	0			c.G1659A						.						166.0	148.0	154.0					7																	138761070		2203	4300	6503	SO:0001819	synonymous_variant	56829	exon6			GATCGTCTCCATG	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1659G>A	chr7.hg19:g.138761070C>T		90.0	0.0		95.0	34.0	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	hg19	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.265320	0.01433	.	.	ENSG00000105939	ENST00000460845	.	.	.	5.14	1.38	0.22167	.	.	.	.	.	T	0.45736	0.1357	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.22730	-1.0208	4	.	.	.	.	3.8432	0.08923	0.1594:0.4972:0.0:0.3434	.	.	.	.	N	118	.	.	D	-	1	0	ZC3HAV1	138411610	0.478000	0.25917	0.156000	0.22583	0.007000	0.05969	0.894000	0.28350	0.078000	0.16900	-0.150000	0.13652	GAC	.	.		0.478	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
STAR	6770	hgsc.bcm.edu	37	8	38002821	38002821	+	Silent	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr8:38002821A>G	ENST00000276449.4	-	6	1109	c.663T>C	c.(661-663)ggT>ggC	p.G221G		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	221	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCAAGTGGGACCGTGCTCCG	0.542																																					p.G221G		Atlas-SNP	.											STAR,NS,lymphoid_neoplasm,0,1	STAR	29	.	0			c.T663C						.						114.0	90.0	98.0					8																	38002821		2203	4300	6503	SO:0001819	synonymous_variant	6770	exon6			AGTGGGACCGTGC	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.663T>C	chr8.hg19:g.38002821A>G		33.0	0.0		31.0	3.0	NM_000349	Q16396	Silent	SNP	ENST00000276449.4	hg19	CCDS6102.1																																																																																			.	.		0.542	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	
ST18	9705	hgsc.bcm.edu	37	8	53084937	53084937	+	Missense_Mutation	SNP	C	C	A	rs147121734		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr8:53084937C>A	ENST00000276480.7	-	10	1167	c.484G>T	c.(484-486)Gat>Tat	p.D162Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTGCTTCATCGCTCTCTGCT	0.388																																					p.D162Y		Atlas-SNP	.											.	ST18	212	.	0			c.G484T						.						113.0	104.0	107.0					8																	53084937		2203	4300	6503	SO:0001583	missense	9705	exon10			CTTCATCGCTCTC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.484G>T	chr8.hg19:g.53084937C>A	ENSP00000276480:p.Asp162Tyr	117.0	0.0		150.0	42.0	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638969	0.47153	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.51574	0.71;0.7	5.63	5.63	0.86233	.	0.470314	0.25704	N	0.028843	T	0.59252	0.2180	M	0.64997	1.995	0.41628	D	0.989001	D	0.54964	0.969	P	0.54924	0.764	T	0.63042	-0.6725	10	0.87932	D	0	-8.5407	13.9144	0.63887	0.0:0.9273:0.0:0.0727	.	162	O60284	ST18_HUMAN	Y	162	ENSP00000276480:D162Y;ENSP00000428521:D162Y	ENSP00000276480:D162Y	D	-	1	0	ST18	53247490	0.970000	0.33590	0.222000	0.23844	0.261000	0.26267	3.474000	0.53129	2.650000	0.89964	0.655000	0.94253	GAT	.	C|1.000;T|0.000		0.388	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
POU5F1B	5462	hgsc.bcm.edu	37	8	128428642	128428642	+	Silent	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr8:128428642G>A	ENST00000465342.2	+	2	1688	c.531G>A	c.(529-531)aaG>aaA	p.K177K	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.K177K			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	177	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						TATTTGGGAAGGTGTTCAGCC	0.532																																					p.K177K		Atlas-SNP	.											.	POU5F1B	32	.	0			c.G531A						.						77.0	89.0	86.0					8																	128428642		692	1591	2283	SO:0001819	synonymous_variant	5462	exon1			TGGGAAGGTGTTC	AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.531G>A	chr8.hg19:g.128428642G>A		60.0	0.0		71.0	21.0	NM_001159542	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	ENST00000465342.2	hg19	CCDS55274.1																																																																																			.	.		0.532	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
ZER1	10444	hgsc.bcm.edu	37	9	131515868	131515868	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr9:131515868C>T	ENST00000291900.2	-	4	727	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	107					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCAGGTACAGCTCCACCAGGT	0.612																																					p.E107E		Atlas-SNP	.											.	ZER1	49	.	0			c.G321A						.						41.0	42.0	41.0					9																	131515868		2203	4300	6503	SO:0001819	synonymous_variant	10444	exon4			GTACAGCTCCACC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.321G>A	chr9.hg19:g.131515868C>T		40.0	0.0		36.0	10.0	NM_006336	O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	hg19	CCDS6910.1																																																																																			.	.		0.612	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
GDF10	2662	hgsc.bcm.edu	37	10	48428812	48428812	+	Silent	SNP	G	G	A	rs374890077		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr10:48428812G>A	ENST00000224605.2	-	2	1339	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	358					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TCGTCTTCTCGTCAAAGTCCA	0.637																																					p.D358D		Atlas-SNP	.											.	GDF10	79	.	0			c.C1074T						.	G		0,4406		0,0,2203	85.0	73.0	77.0		1074	-8.3	0.4	10		77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GDF10	NM_004962.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		358/479	48428812	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2662	exon2			CTTCTCGTCAAAG	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1074C>T	chr10.hg19:g.48428812G>A		122.0	0.0		160.0	49.0	NM_004962	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	hg19	CCDS7220.1																																																																																			.	.		0.637	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
TM9SF3	56889	hgsc.bcm.edu	37	10	98325145	98325145	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr10:98325145C>A	ENST00000371142.4	-	3	553	c.337G>T	c.(337-339)Gat>Tat	p.D113Y		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	113						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTTTCTTTATCTAAATCAATT	0.303																																					p.D113Y		Atlas-SNP	.											.	TM9SF3	45	.	0			c.G337T						.						138.0	135.0	136.0					10																	98325145		2203	4300	6503	SO:0001583	missense	56889	exon3			CTTTATCTAAATC	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.337G>T	chr10.hg19:g.98325145C>A	ENSP00000360184:p.Asp113Tyr	61.0	0.0		90.0	26.0	NM_020123	Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	hg19	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380609	0.82792	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.46063	0.88;0.88	5.79	5.79	0.91817	.	0.142109	0.64402	D	0.000007	T	0.49338	0.1551	M	0.79475	2.455	0.80722	D	1	P	0.39480	0.675	B	0.41894	0.369	T	0.55522	-0.8128	10	0.87932	D	0	-19.1802	12.3436	0.55107	0.0:0.9234:0.0:0.0766	.	113	Q9HD45	TM9S3_HUMAN	Y	113;69	ENSP00000360184:D113Y;ENSP00000401152:D69Y	ENSP00000360184:D113Y	D	-	1	0	TM9SF3	98315135	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.660000	0.61511	2.727000	0.93392	0.563000	0.77884	GAT	.	.		0.303	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123	
ZFYVE27	118813	hgsc.bcm.edu	37	10	99498236	99498236	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr10:99498236T>C	ENST00000393677.4	+	2	206	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ZFYVE27_ENST00000337540.7_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000356257.4_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000370613.3_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000357540.4_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000359980.3_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000453958.2_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000370610.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	1					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		ggttACAGGATGCAGACATCA	0.537																																					p.M1T		Atlas-SNP	.											.	ZFYVE27	31	.	0			c.T2C						.						126.0	121.0	123.0					10																	99498236		2203	4300	6503	SO:0001582	initiator_codon_variant	118813	exon1			ACAGGATGCAGAC	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.2T>C	chr10.hg19:g.99498236T>C	ENSP00000377282:p.Met1Thr	43.0	0.0		42.0	18.0	NM_001002261	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	hg19	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043513	0.36085	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257	T;T;T;T;T	0.55930	0.49;1.31;1.29;1.29;1.29	4.14	2.9	0.33743	.	0.240146	0.45361	D	0.000378	T	0.60547	0.2277	.	.	.	0.80722	D	1	B;B;P;P;D;B	0.58620	0.397;0.421;0.557;0.557;0.983;0.421	B;B;B;B;P;B	0.57101	0.057;0.05;0.107;0.107;0.813;0.05	T	0.64175	-0.6469	9	0.87932	D	0	-22.7937	8.0392	0.30511	0.1815:0.0:0.0:0.8185	.	1;1;1;1;1;1	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	T	1	ENSP00000337993:M1T;ENSP00000377282:M1T;ENSP00000401580:M1T;ENSP00000353069:M1T;ENSP00000348593:M1T	ENSP00000337993:M1T	M	+	2	0	ZFYVE27	99488226	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.870000	0.48451	1.865000	0.54081	0.459000	0.35465	ATG	.	.		0.537	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588	Missense_Mutation
TDRD1	56165	hgsc.bcm.edu	37	10	115985937	115985937	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr10:115985937T>C	ENST00000369280.1	+	22	3597	c.3137T>C	c.(3136-3138)cTg>cCg	p.L1046P	TDRD1_ENST00000251864.2_Missense_Mutation_p.L1046P|TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046P|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650P|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932P			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1046	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCTAGCCACCTGGCGCTTCCT	0.423																																					p.L1046P		Atlas-SNP	.											.	TDRD1	126	.	0			c.T3137C						.						89.0	83.0	85.0					10																	115985937		2203	4300	6503	SO:0001583	missense	56165	exon22			GCCACCTGGCGCT	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3137T>C	chr10.hg19:g.115985937T>C	ENSP00000358286:p.Leu1046Pro	87.0	0.0		100.0	38.0	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.93	3.917587	0.73098	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	6.01	6.01	0.97437	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.215770	0.36703	N	0.002459	T	0.43897	0.1268	M	0.93150	3.385	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	0.97110	0.999;1.0;1.0;0.999;0.999	T	0.53683	-0.8404	10	0.44086	T	0.13	-10.0464	15.0995	0.72262	0.0:0.0:0.0:1.0	.	650;1046;932;1046;932	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	P	1046;1046;932;650;1046	ENSP00000358288:L1046P;ENSP00000251864:L1046P;ENSP00000358287:L932P;ENSP00000402794:L650P;ENSP00000358286:L1046P	ENSP00000251864:L1046P	L	+	2	0	TDRD1	115975927	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	6.328000	0.72915	2.307000	0.77673	0.528000	0.53228	CTG	.	.		0.423	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
DPF2	5977	hgsc.bcm.edu	37	11	65116351	65116351	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr11:65116351C>G	ENST00000528416.1	+	10	1181	c.1048C>G	c.(1048-1050)Cgt>Ggt	p.R350G	DPF2_ENST00000415073.2_Missense_Mutation_p.R166G|DPF2_ENST00000252268.4_Missense_Mutation_p.R364G	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	350					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGACTGCGATCGTGGCTACCA	0.488																																					p.R350G		Atlas-SNP	.											DPF2,NS,carcinoma,0,1	DPF2	54	.	0			c.C1048G						.						222.0	178.0	193.0					11																	65116351		2201	4297	6498	SO:0001583	missense	5977	exon10			TGCGATCGTGGCT	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1048C>G	chr11.hg19:g.65116351C>G	ENSP00000436901:p.Arg350Gly	139.0	0.0		158.0	9.0	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455040	0.84209	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268;ENST00000531989	D;T;D;T	0.85171	-1.95;0.43;-1.95;0.43	5.7	5.7	0.88788	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38381	N	0.001704	D	0.92322	0.7564	M	0.77712	2.385	0.58432	D	0.999992	D;P	0.64830	0.994;0.946	D;P	0.74023	0.982;0.827	D	0.92837	0.6285	10	0.87932	D	0	-16.1324	17.3282	0.87255	0.0:1.0:0.0:0.0	.	166;350	B4DT58;Q92785	.;REQU_HUMAN	G	350;166;364;75	ENSP00000436901:R350G;ENSP00000399714:R166G;ENSP00000252268:R364G;ENSP00000435887:R75G	ENSP00000252268:R364G	R	+	1	0	DPF2	64872927	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.725000	0.54970	2.696000	0.92011	0.561000	0.74099	CGT	.	.		0.488	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
SPCS2	9789	hgsc.bcm.edu	37	11	74660392	74660392	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr11:74660392G>A	ENST00000263672.6	+	1	101	c.62G>A	c.(61-63)gGt>gAt	p.G21D	XRRA1_ENST00000527087.1_5'Flank|XRRA1_ENST00000321448.8_5'Flank|SPCS2_ENST00000528265.1_Splice_Site|XRRA1_ENST00000533598.1_5'Flank|SPCS2_ENST00000530257.1_Missense_Mutation_p.G21D|XRRA1_ENST00000340360.6_5'Flank|SPCS2_ENST00000526361.1_5'UTR	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						AGTGGGGCTGGTGGTGCTTCC	0.632																																					p.G21D		Atlas-SNP	.											.	SPCS2	17	.	0			c.G62A						.						94.0	133.0	121.0					11																	74660392		692	1591	2283	SO:0001583	missense	9789	exon1			GGGCTGGTGGTGC	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.62G>A	chr11.hg19:g.74660392G>A	ENSP00000263672:p.Gly21Asp	43.0	0.0		66.0	25.0	NM_014752	Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	hg19	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595104	0.28445	.	.	ENSG00000118363	ENST00000263672;ENST00000530257;ENST00000532972	.	.	.	4.95	3.97	0.46021	.	0.423912	0.23129	N	0.051608	T	0.28200	0.0696	N	0.22421	0.69	0.26976	N	0.965477	B	0.18968	0.032	B	0.17098	0.017	T	0.12553	-1.0543	9	0.51188	T	0.08	-7.0932	10.0684	0.42317	0.0:0.0:0.7999:0.2001	.	21	Q15005	SPCS2_HUMAN	D	21	.	ENSP00000263672:G21D	G	+	2	0	SPCS2	74338040	0.923000	0.31300	0.995000	0.50966	0.322000	0.28314	2.437000	0.44828	2.730000	0.93505	0.655000	0.94253	GGT	.	.		0.632	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752	
PTPRB	5787	hgsc.bcm.edu	37	12	71003577	71003577	+	Silent	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr12:71003577G>A	ENST00000261266.5	-	1	47	c.18C>T	c.(16-18)gcC>gcT	p.A6A	PTPRB_ENST00000551525.1_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000550857.1_Silent_p.A6A|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538174.2_Intron|PTPRB_ENST00000451516.2_Silent_p.A6A|PTPRB_ENST00000538708.1_Silent_p.A6A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	6					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGCCAACCCGGCTCCATGGC	0.647																																					p.A6A		Atlas-SNP	.											.	PTPRB	676	.	0			c.C18T						.						18.0	21.0	20.0					12																	71003577		2040	4216	6256	SO:0001819	synonymous_variant	5787	exon1			CAACCCGGCTCCA	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.18C>T	chr12.hg19:g.71003577G>A		74.0	0.0		93.0	27.0	NM_001206972	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	hg19	CCDS44944.1																																																																																			.	.		0.647	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
ACACB	32	hgsc.bcm.edu	37	12	109677646	109677646	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr12:109677646C>A	ENST00000338432.7	+	35	4793	c.4674C>A	c.(4672-4674)ttC>ttA	p.F1558L	ACACB_ENST00000377848.3_Missense_Mutation_p.F1558L|ACACB_ENST00000377854.5_Missense_Mutation_p.F1488L|ACACB_ENST00000543201.1_Missense_Mutation_p.F224L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1558					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAGCCTCCTTCGAATACCTGC	0.622																																					p.F1558L		Atlas-SNP	.											.	ACACB	330	.	0			c.C4674A						.						48.0	40.0	43.0					12																	109677646		2203	4300	6503	SO:0001583	missense	32	exon34			CTCCTTCGAATAC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4674C>A	chr12.hg19:g.109677646C>A	ENSP00000341044:p.Phe1558Leu	50.0	0.0		66.0	12.0	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728023	0.30593	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.01	2.07	0.26955	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.67953	2.075	0.48040	D	0.999573	D	0.89917	1.0	D	0.91635	0.999	T	0.49224	-0.8962	10	0.25106	T	0.35	.	8.2716	0.31846	0.0:0.5642:0.0:0.4358	.	1558	O00763	ACACB_HUMAN	L	1558;1558;1488;789;224	ENSP00000341044:F1558L;ENSP00000367079:F1558L;ENSP00000367085:F1488L;ENSP00000444075:F224L	ENSP00000341044:F1558L	F	+	3	2	ACACB	108162029	0.695000	0.27747	1.000000	0.80357	0.989000	0.77384	-0.146000	0.10250	0.385000	0.24970	0.561000	0.74099	TTC	.	.		0.622	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
RPH3A	22895	hgsc.bcm.edu	37	12	113303242	113303242	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr12:113303242A>T	ENST00000389385.4	+	6	751	c.254A>T	c.(253-255)aAc>aTc	p.N85I	RPH3A_ENST00000447659.2_Missense_Mutation_p.N36I|RPH3A_ENST00000415485.3_Missense_Mutation_p.N85I|RPH3A_ENST00000551052.1_Missense_Mutation_p.N81I|RPH3A_ENST00000548866.1_Missense_Mutation_p.N36I|RPH3A_ENST00000420983.2_Missense_Mutation_p.N85I|RPH3A_ENST00000543106.2_Missense_Mutation_p.N85I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	85	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGCCTAGAAAACATGAGGAAG	0.542																																					p.N85I		Atlas-SNP	.											.	RPH3A	98	.	0			c.A254T						.						202.0	181.0	188.0					12																	113303242		2203	4300	6503	SO:0001583	missense	22895	exon6			TAGAAAACATGAG	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.254A>T	chr12.hg19:g.113303242A>T	ENSP00000374036:p.Asn85Ile	90.0	0.0		88.0	18.0	NM_001143854	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	hg19	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667363	0.67814	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.61	0.195	0.15151	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.293525	0.29185	N	0.012882	T	0.76321	0.3971	M	0.66297	2.02	0.31698	N	0.641007	P;P;P;P	0.39624	0.631;0.681;0.681;0.631	B;B;B;B	0.41619	0.165;0.361;0.255;0.165	T	0.78658	-0.2118	10	0.87932	D	0	.	14.0515	0.64739	0.4779:0.5221:0.0:0.0	.	36;85;85;81	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	I	85;85;85;85;85;85;85;85;85;85;36;18;85;81;85;85;36;85	ENSP00000446570:N85I;ENSP00000449705:N85I;ENSP00000440384:N85I;ENSP00000446780:N85I;ENSP00000447306:N85I;ENSP00000450382:N85I;ENSP00000449613:N85I;ENSP00000447505:N85I;ENSP00000449650:N85I;ENSP00000374036:N85I;ENSP00000413254:N36I;ENSP00000448100:N18I;ENSP00000447083:N85I;ENSP00000448297:N81I;ENSP00000405357:N85I;ENSP00000450216:N85I;ENSP00000450347:N36I;ENSP00000408889:N85I	ENSP00000374036:N85I	N	+	2	0	RPH3A	111787625	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	3.100000	0.50275	-0.194000	0.10399	-1.236000	0.01555	AAC	.	.		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
SLITRK1	114798	hgsc.bcm.edu	37	13	84454719	84454719	+	Silent	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr13:84454719A>T	ENST00000377084.2	-	1	1809	c.924T>A	c.(922-924)ggT>ggA	p.G308G		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	308					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGATCTTTGTACCTCCGTTTG	0.537																																					p.G308G		Atlas-SNP	.											.	SLITRK1	196	.	0			c.T924A						.						76.0	75.0	75.0					13																	84454719		2203	4300	6503	SO:0001819	synonymous_variant	114798	exon1			CTTTGTACCTCCG	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.924T>A	chr13.hg19:g.84454719A>T		125.0	0.0		83.0	42.0	NM_052910	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	hg19	CCDS9464.1																																																																																			.	.		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
F10	2159	hgsc.bcm.edu	37	13	113795287	113795287	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr13:113795287A>T	ENST00000375559.3	+	5	463	c.425A>T	c.(424-426)gAg>gTg	p.E142V	F10_ENST00000375551.3_Missense_Mutation_p.E142V|F10_ENST00000409306.1_Missense_Mutation_p.E142V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	142	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		E -> K (in FA10D; uncertain pathological significance; detected in patients carrying K-54 or P-374; slightly reduced activity; dbSNP:rs61753266). {ECO:0000269|PubMed:1973167, ECO:0000269|PubMed:7669671}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TTCTGCCACGAGGAACAGAAC	0.617																																					p.E142V		Atlas-SNP	.											.	F10	53	.	0			c.A425T						.						112.0	95.0	101.0					13																	113795287		2203	4300	6503	SO:0001583	missense	2159	exon5			GCCACGAGGAACA		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.425A>T	chr13.hg19:g.113795287A>T	ENSP00000364709:p.Glu142Val	91.0	0.0		117.0	27.0	NM_000504	Q14340	Missense_Mutation	SNP	ENST00000375559.3	hg19	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	A	6.286	0.420841	0.11928	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.96491	-4.03;-4.03;-4.03	4.68	3.4	0.38934	Epidermal growth factor-like (1);	0.301259	0.31257	N	0.007962	D	0.91078	0.7192	L	0.38649	1.16	0.09310	N	1	P;P;B	0.39480	0.675;0.553;0.011	B;B;B	0.31442	0.13;0.13;0.028	D	0.85347	0.1099	10	0.40728	T	0.16	.	9.9877	0.41852	0.8305:0.1695:0.0:0.0	.	142;142;142	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	V	142	ENSP00000387092:E142V;ENSP00000364701:E142V;ENSP00000364709:E142V	ENSP00000364701:E142V	E	+	2	0	F10	112843288	0.003000	0.15002	0.057000	0.19452	0.514000	0.34195	0.792000	0.26929	1.870000	0.54199	0.379000	0.24179	GAG	.	.		0.617	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		
INO80	54617	hgsc.bcm.edu	37	15	41388013	41388013	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:41388013C>A	ENST00000361937.3	-	3	681	c.257G>T	c.(256-258)gGa>gTa	p.G86V	INO80_ENST00000401393.3_Missense_Mutation_p.G86V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	86	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTGCCTGCTCCAGAAGTTTC	0.443																																					p.G86V		Atlas-SNP	.											.	INO80	122	.	0			c.G257T						.						70.0	73.0	72.0					15																	41388013		2203	4300	6503	SO:0001583	missense	54617	exon3			CCTGCTCCAGAAG	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.257G>T	chr15.hg19:g.41388013C>A	ENSP00000355205:p.Gly86Val	93.0	0.0		101.0	33.0	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	hg19	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317110	0.60524	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90504	-2.68;-2.68	6.08	4.11	0.48088	.	0.268091	0.38663	N	0.001611	D	0.84906	0.5576	L	0.43152	1.355	0.80722	D	1	P	0.37781	0.608	B	0.36534	0.227	T	0.81322	-0.0985	10	0.16896	T	0.51	.	11.6218	0.51121	0.0:0.8083:0.1249:0.0667	.	86	Q9ULG1	INO80_HUMAN	V	86	ENSP00000355205:G86V;ENSP00000384686:G86V	ENSP00000355205:G86V	G	-	2	0	INO80	39175305	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.794000	0.47853	1.580000	0.49851	0.591000	0.81541	GGA	.	.		0.443	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
MGA	23269	hgsc.bcm.edu	37	15	42028493	42028493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:42028493G>A	ENST00000570161.1	+	12	4031	c.4031G>A	c.(4030-4032)tGg>tAg	p.W1344*	MGA_ENST00000566586.1_Nonsense_Mutation_p.W1344*|MGA_ENST00000545763.1_Nonsense_Mutation_p.W1344*|MGA_ENST00000389936.4_Nonsense_Mutation_p.W1344*|MGA_ENST00000219905.7_Nonsense_Mutation_p.W1344*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACTGCAACTGGGAGGAAGAT	0.453																																					p.W1344X		Atlas-SNP	.											.	MGA	264	.	0			c.G4031A						.						142.0	131.0	135.0					15																	42028493		1945	4158	6103	SO:0001587	stop_gained	23269	exon13			GCAACTGGGAGGA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4031G>A	chr15.hg19:g.42028493G>A	ENSP00000457035:p.Trp1344*	83.0	0.0		96.0	33.0	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565420	0.86439	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.82	5.82	0.92795	.	0.431614	0.21057	N	0.080882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3562	0.83236	0.0:0.0:0.8676:0.1324	.	.	.	.	X	1344	.	ENSP00000219905:W1344X	W	+	2	0	MGA	39815785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.063000	0.64332	2.757000	0.94681	0.585000	0.79938	TGG	.	.		0.453	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
PIGB	9488	hgsc.bcm.edu	37	15	55647553	55647553	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:55647553G>A	ENST00000164305.5	+	12	1879	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	PIGB_ENST00000539642.1_Missense_Mutation_p.E335K|CCPG1_ENST00000442196.3_3'UTR|CCPG1_ENST00000310958.6_3'UTR|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	530					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TCACTTGCCAGAGGGTCGAAT	0.318																																					p.E530K		Atlas-SNP	.											.	PIGB	36	.	0			c.G1588A						.						84.0	83.0	83.0					15																	55647553		1822	4074	5896	SO:0001583	missense	9488	exon12			TTGCCAGAGGGTC	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1588G>A	chr15.hg19:g.55647553G>A	ENSP00000164305:p.Glu530Lys	147.0	0.0		181.0	13.0	NM_004855	Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	hg19		.	.	.	.	.	.	.	.	.	.	G	18.96	3.734651	0.69189	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59502	0.58;0.26	6.08	5.17	0.71159	.	0.049207	0.85682	D	0.000000	T	0.68063	0.2960	M	0.80183	2.485	0.80722	D	1	D	0.54772	0.968	P	0.54664	0.758	T	0.67677	-0.5609	10	0.22706	T	0.39	-8.206	10.9909	0.47549	0.0718:0.1379:0.7903:0.0	.	530	Q92521	PIGB_HUMAN	K	530;335	ENSP00000164305:E530K;ENSP00000438963:E335K	ENSP00000164305:E530K	E	+	1	0	PIGB	53434845	1.000000	0.71417	0.896000	0.35187	0.990000	0.78478	4.093000	0.57714	1.586000	0.49944	0.591000	0.81541	GAG	.	.		0.318	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	
SLTM	79811	hgsc.bcm.edu	37	15	59192012	59192012	+	Silent	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:59192012A>G	ENST00000380516.2	-	7	801	c.714T>C	c.(712-714)gcT>gcC	p.A238A	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	238	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTCATCCTCAGCTTCTTTCA	0.443																																					p.A238A		Atlas-SNP	.											.	SLTM	90	.	0			c.T714C						.						166.0	141.0	150.0					15																	59192012		2192	4292	6484	SO:0001819	synonymous_variant	79811	exon7			ATCCTCAGCTTCT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.714T>C	chr15.hg19:g.59192012A>G		106.0	0.0		124.0	43.0	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	hg19	CCDS10168.2																																																																																			.	.		0.443	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
IGDCC3	9543	hgsc.bcm.edu	37	15	65622666	65622666	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:65622666C>T	ENST00000327987.4	-	11	2074	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	608	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGACACAAAGCGGACTGTGGC	0.592																																					p.R608H		Atlas-SNP	.											.	IGDCC3	82	.	0			c.G1823A						.						197.0	160.0	172.0					15																	65622666		2201	4299	6500	SO:0001583	missense	9543	exon11			ACAAAGCGGACTG	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1823G>A	chr15.hg19:g.65622666C>T	ENSP00000332773:p.Arg608His	97.0	0.0		107.0	40.0	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	hg19	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631091	0.67015	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.66638	-0.22	5.26	4.35	0.52113	Fibronectin, type III (1);	0.126644	0.53938	D	0.000051	T	0.79125	0.4393	M	0.71581	2.175	0.53688	D	0.999978	D	0.89917	1.0	D	0.69479	0.964	T	0.80513	-0.1349	10	0.54805	T	0.06	-32.1962	13.5931	0.61971	0.0:0.9255:0.0:0.0745	.	608	Q8IVU1	IGDC3_HUMAN	H	608;471	ENSP00000332773:R608H	ENSP00000332773:R608H	R	-	2	0	IGDCC3	63409719	1.000000	0.71417	0.923000	0.36655	0.285000	0.27093	7.466000	0.80914	1.218000	0.43458	0.655000	0.94253	CGC	.	.		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
SLC5A11	115584	hgsc.bcm.edu	37	16	24920370	24920370	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr16:24920370A>C	ENST00000347898.3	+	14	2225	c.1603A>C	c.(1603-1605)Act>Cct	p.T535P	SLC5A11_ENST00000539472.1_Missense_Mutation_p.T471P|SLC5A11_ENST00000569071.1_Missense_Mutation_p.T379P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T500P|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T465P|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T500P|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T465P|SLC5A11_ENST00000565769.1_Missense_Mutation_p.T471P|SLC5A11_ENST00000449109.2_Missense_Mutation_p.T379P	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CACCCTCATCACTGTCTCCAC	0.552																																					p.T535P		Atlas-SNP	.											.	SLC5A11	97	.	0			c.A1603C						.						132.0	100.0	111.0					16																	24920370		2197	4300	6497	SO:0001583	missense	115584	exon14			CTCATCACTGTCT	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1603A>C	chr16.hg19:g.24920370A>C	ENSP00000289932:p.Thr535Pro	102.0	0.0		109.0	10.0	NM_052944		Missense_Mutation	SNP	ENST00000347898.3	hg19	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936599	0.52972	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	6.08	4.98	0.66077	.	0.465232	0.26279	N	0.025297	T	0.70780	0.3263	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.65815	0.991;0.995;0.966;0.974	P;P;P;P	0.59703	0.642;0.862;0.543;0.497	T	0.64761	-0.6331	10	0.87932	D	0	.	7.3192	0.26517	0.8247:0.0:0.1753:0.0	.	465;500;535;379	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	P	535;379;500;465;471	ENSP00000289932:T535P;ENSP00000389606:T379P;ENSP00000416782:T500P;ENSP00000441384:T465P;ENSP00000441018:T471P	ENSP00000289932:T535P	T	+	1	0	SLC5A11	24827871	0.006000	0.16342	0.010000	0.14722	0.655000	0.38815	1.476000	0.35420	1.099000	0.41499	0.482000	0.46254	ACT	.	.		0.552	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	
ADCY7	113	hgsc.bcm.edu	37	16	50339757	50339757	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr16:50339757C>T	ENST00000394697.2	+	14	2089	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R	ADCY7_ENST00000538642.1_Silent_p.R583R|ADCY7_ENST00000254235.3_Silent_p.R583R|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Silent_p.R583R			P51828	ADCY7_HUMAN	adenylate cyclase 7	583					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCTTTGAGCGCGAGGTGAGGG	0.672																																					p.R583R		Atlas-SNP	.											ADCY7,colon,carcinoma,0,1	ADCY7	90	.	0			c.C1749T						.						43.0	42.0	42.0					16																	50339757		2198	4300	6498	SO:0001819	synonymous_variant	113	exon13			TGAGCGCGAGGTG	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1749C>T	chr16.hg19:g.50339757C>T		106.0	0.0		113.0	41.0	NM_001114	A0AVA6	Silent	SNP	ENST00000394697.2	hg19	CCDS10741.1																																																																																			.	.		0.672	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
CCDC79	283847	hgsc.bcm.edu	37	16	66822199	66822199	+	Splice_Site	SNP	A	A	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr16:66822199A>C	ENST00000558713.2	-	5	345	c.273T>G	c.(271-273)gtT>gtG	p.V91V	CCDC79_ENST00000432602.1_Splice_Site_p.V91V|CCDC79_ENST00000433574.1_Splice_Site_p.V91V|CCDC79_ENST00000433154.1_Splice_Site_p.V91V|CCDC79_ENST00000415744.1_Splice_Site_p.V91V|CCDC79_ENST00000561333.1_5'UTR			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	91					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						GCTGACAGTAAACTGaaatat	0.284																																					p.V91V		Atlas-SNP	.											.	CCDC79	32	.	0			c.T273G						.						23.0	19.0	21.0					16																	66822199		691	1566	2257	SO:0001630	splice_region_variant	283847	exon6			ACAGTAAACTGAA	AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.272-1T>G	chr16.hg19:g.66822199A>C		364.0	1.0		461.0	147.0	NM_001136505	A0AUW1	Silent	SNP	ENST00000558713.2	hg19																																																																																				.	.		0.284	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000418864.2		Silent
MINK1	50488	hgsc.bcm.edu	37	17	4789860	4789860	+	Silent	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr17:4789860G>A	ENST00000355280.6	+	10	1084	c.888G>A	c.(886-888)cgG>cgA	p.R296R	MINK1_ENST00000347992.7_Silent_p.R296R|MINK1_ENST00000453408.3_Silent_p.R296R	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCACGGAGCGGCAGGTCCGCA	0.587																																					p.R296R		Atlas-SNP	.											.	MINK1	110	.	0			c.G888A						.						57.0	61.0	60.0					17																	4789860		1958	4132	6090	SO:0001819	synonymous_variant	50488	exon10			GGAGCGGCAGGTC	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.888G>A	chr17.hg19:g.4789860G>A		55.0	0.0		65.0	20.0	NM_170663		Silent	SNP	ENST00000355280.6	hg19	CCDS45588.1																																																																																			.	.		0.587	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716	
SLC16A3	9123	hgsc.bcm.edu	37	17	80195333	80195333	+	Silent	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr17:80195333G>T	ENST00000581287.1	+	3	3009	c.687G>T	c.(685-687)gtG>gtT	p.V229V	SLC16A3_ENST00000392341.1_Silent_p.V229V|SLC16A3_ENST00000582743.1_Silent_p.V229V|SLC16A3_ENST00000392339.1_Silent_p.V229V	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	229					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GCGGCTTTGTGCTTTACGCCG	0.711																																					p.V229V	Pancreas(52;652 1135 19190 37282 52456)	Atlas-SNP	.											.	SLC16A3	19	.	0			c.G687T						.						16.0	18.0	17.0					17																	80195333		2187	4290	6477	SO:0001819	synonymous_variant	9123	exon4			CTTTGTGCTTTAC	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.687G>T	chr17.hg19:g.80195333G>T		32.0	0.0		83.0	5.0	NM_001206950	B3KXG8|Q2M1P8	Silent	SNP	ENST00000581287.1	hg19	CCDS11804.1																																																																																			.	.		0.711	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207	
MTCL1	23255	hgsc.bcm.edu	37	18	8784213	8784213	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr18:8784213G>A	ENST00000306285.7	+	0	1245				SOGA2_ENST00000400050.3_Missense_Mutation_p.R368H|SOGA2_ENST00000517570.1_Missense_Mutation_p.R368H|SOGA2_ENST00000306329.11_Missense_Mutation_p.R728H|SOGA2_ENST00000359865.3_Missense_Mutation_p.R368H																							AACATCCAGCGCTGCGACCTG	0.652																																					p.R368H		Atlas-SNP	.											CCDC165,NS,carcinoma,0,1	.	.	.	0			c.G1103A						.						30.0	34.0	33.0					18																	8784213		2203	4298	6501			23255	exon6			TCCAGCGCTGCGA																												ENST00000306285.7:c.-953G>A	chr18.hg19:g.8784213G>A		34.0	0.0		58.0	14.0	NM_015210		Missense_Mutation	SNP	ENST00000306285.7	hg19		.	.	.	.	.	.	.	.	.	.	G	15.09	2.730837	0.48939	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.27720	1.65;1.75;1.65	5.15	5.15	0.70609	.	0.000000	0.47093	D	0.000243	T	0.62258	0.2413	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69300	-0.5181	10	0.87932	D	0	-26.832	18.629	0.91352	0.0:0.0:1.0:0.0	.	389;368	A8MQ54;Q9Y4B5-3	.;.	H	389;368;368;368	ENSP00000429556:R368H;ENSP00000352927:R368H;ENSP00000382924:R368H	ENSP00000305027:R389H	R	+	2	0	CCDC165	8774213	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.468000	0.97676	2.413000	0.81919	0.650000	0.86243	CGC	.	.		0.652	SOGA2-201	KNOWN	basic	protein_coding	protein_coding			
MUC16	94025	hgsc.bcm.edu	37	19	9074914	9074914	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:9074914A>G	ENST00000397910.4	-	3	12735	c.12532T>C	c.(12532-12534)Tca>Cca	p.S4178P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4180	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCCTTGTGATGTCAACAAA	0.512																																					p.S4178P		Atlas-SNP	.											.	MUC16	4315	.	0			c.T12532C						.						153.0	143.0	146.0					19																	9074914		1987	4159	6146	SO:0001583	missense	94025	exon3			CTTGTGATGTCAA	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.12532T>C	chr19.hg19:g.9074914A>G	ENSP00000381008:p.Ser4178Pro	128.0	0.0		181.0	64.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.943	0.175156	0.09391	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	1.12	-1.27	0.09347	.	.	.	.	.	T	0.11024	0.0269	N	0.19112	0.55	.	.	.	D	0.58268	0.982	B	0.41332	0.354	T	0.19778	-1.0295	8	0.87932	D	0	.	4.3322	0.11069	0.5028:0.0:0.4972:0.0	.	4178	B5ME49	.	P	4178	ENSP00000381008:S4178P	ENSP00000381008:S4178P	S	-	1	0	MUC16	8935914	0.000000	0.05858	0.001000	0.08648	0.363000	0.29612	-0.616000	0.05591	-0.553000	0.06158	0.260000	0.18958	TCA	.	.		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
AP1M1	8907	hgsc.bcm.edu	37	19	16338431	16338431	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:16338431A>G	ENST00000291439.3	+	7	1195	c.746A>G	c.(745-747)aAt>aGt	p.N249S	AP1M1_ENST00000541844.1_Missense_Mutation_p.N177S|AP1M1_ENST00000444449.2_Missense_Mutation_p.N261S|AP1M1_ENST00000590756.1_Missense_Mutation_p.N177S|AP1M1_ENST00000429941.2_Missense_Mutation_p.N249S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	249	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGCTTCGAGAATGACCGCACC	0.607																																					p.N261S		Atlas-SNP	.											.	AP1M1	48	.	0			c.A782G						.						283.0	231.0	249.0					19																	16338431		2203	4300	6503	SO:0001583	missense	8907	exon8			TCGAGAATGACCG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.746A>G	chr19.hg19:g.16338431A>G	ENSP00000291439:p.Asn249Ser	95.0	0.0		93.0	11.0	NM_001130524	Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	hg19	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731170	0.30684	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.26	3.2	0.36748	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	L	0.33792	1.035	0.53005	D	0.999961	B;B;B	0.20368	0.005;0.044;0.025	B;B;B	0.27887	0.01;0.084;0.084	T	0.10314	-1.0635	10	0.19147	T	0.46	-40.2913	9.9444	0.41600	0.8286:0.1714:0.0:0.0	.	249;261;249	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	S	261;249;177;249	ENSP00000388996:N261S;ENSP00000291439:N249S;ENSP00000445682:N177S;ENSP00000411498:N249S	ENSP00000291439:N249S	N	+	2	0	AP1M1	16199431	1.000000	0.71417	0.589000	0.28718	0.929000	0.56500	5.837000	0.69381	0.646000	0.30693	0.459000	0.35465	AAT	.	.		0.607	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	
ZNF607	84775	hgsc.bcm.edu	37	19	38189778	38189778	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:38189778C>T	ENST00000355202.4	-	5	1849	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	ZNF607_ENST00000395835.3_Silent_p.E417E|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	418					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTAGGGTTTCTCACCGGTAT	0.393																																					p.E418E		Atlas-SNP	.											.	ZNF607	82	.	0			c.G1254A						.						95.0	97.0	97.0					19																	38189778		2203	4300	6503	SO:0001819	synonymous_variant	84775	exon5			GGGTTTCTCACCG	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1254G>A	chr19.hg19:g.38189778C>T		67.0	0.0		70.0	26.0	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	hg19	CCDS33006.1																																																																																			.	.		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
KCNN4	3783	hgsc.bcm.edu	37	19	44278585	44278585	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:44278585C>G	ENST00000262888.3	-	3	837	c.442G>C	c.(442-444)Ggg>Cgg	p.G148R		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	148					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	AGCGCTTCCCCTTGGCCCAGG	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G148R		Atlas-SNP	.											.	KCNN4	37	.	0			c.G442C						.						10.0	11.0	11.0					19																	44278585		2175	4278	6453	SO:0001583	missense	3783	exon3			CTTCCCCTTGGCC	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.442G>C	chr19.hg19:g.44278585C>G	ENSP00000262888:p.Gly148Arg	62.0	0.0	922	47.0	18.0	NM_002250	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	hg19	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616355	0.28801	.	.	ENSG00000104783	ENST00000262888	D	0.99853	-7.18	3.61	2.44	0.29823	.	0.953602	0.08751	N	0.899144	D	0.98510	0.9503	N	0.08118	0	0.25606	N	0.986544	P;P	0.37015	0.578;0.454	B;B	0.31337	0.128;0.034	D	0.99987	1.3511	10	0.48119	T	0.1	-8.8391	9.8535	0.41070	0.205:0.795:0.0:0.0	.	42;148	D1MQ10;O15554	.;KCNN4_HUMAN	R	148	ENSP00000262888:G148R	ENSP00000262888:G148R	G	-	1	0	KCNN4	48970425	0.993000	0.37304	0.576000	0.28549	0.910000	0.53928	1.372000	0.34261	1.985000	0.57927	0.549000	0.68633	GGG	.	.		0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250	
PLA2G4C	8605	hgsc.bcm.edu	37	19	48602999	48602999	+	Missense_Mutation	SNP	C	C	G	rs574891473		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:48602999C>G	ENST00000599921.1	-	5	733	c.376G>C	c.(376-378)Gca>Cca	p.A126P	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A126P|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A126P|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A136P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	126	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GACCTCGCTGCTTGGATGGTT	0.512																																					p.A136P		Atlas-SNP	.											PLA2G4C,NS,carcinoma,0,1	PLA2G4C	76	.	0			c.G406C						.						195.0	175.0	182.0					19																	48602999		2203	4300	6503	SO:0001583	missense	8605	exon5			TCGCTGCTTGGAT	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.376G>C	chr19.hg19:g.48602999C>G	ENSP00000469473:p.Ala126Pro	92.0	0.0		96.0	27.0	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	hg19	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844889	0.51164	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.24151	1.87;1.87	3.17	-1.14	0.09741	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	2.133970	0.02758	U	0.118260	T	0.49830	0.1580	M	0.79123	2.44	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.995	T	0.42949	-0.9421	10	0.27082	T	0.32	-2.4518	8.6279	0.33901	0.5925:0.4075:0.0:0.0	.	136;126;126	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	P	126	ENSP00000346228:A126P;ENSP00000400036:A126P	ENSP00000346228:A126P	A	-	1	0	PLA2G4C	53294811	0.162000	0.22906	0.000000	0.03702	0.300000	0.27592	0.471000	0.22100	-0.423000	0.07394	0.411000	0.27672	GCA	.	.		0.512	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
NLRP4	147945	hgsc.bcm.edu	37	19	56369797	56369797	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:56369797C>T	ENST00000301295.6	+	3	1460	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	NLRP4_ENST00000346986.5_Silent_p.I346I|NLRP4_ENST00000587891.1_Silent_p.I271I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	346	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGCTGGATCCTGTGTACCA	0.478																																					p.I346I		Atlas-SNP	.											.	NLRP4	331	.	0			c.C1038T						.						52.0	51.0	51.0					19																	56369797		2203	4300	6503	SO:0001819	synonymous_variant	147945	exon3			CTGGATCCTGTGT	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1038C>T	chr19.hg19:g.56369797C>T		49.0	0.0		74.0	32.0	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	hg19	CCDS12936.1																																																																																			.	.		0.478	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
MC3R	4159	hgsc.bcm.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																					p.R307C		Atlas-SNP	.											MC3R,colon,carcinoma,-1,2	MC3R	83	.	1	Substitution - Missense(1)	breast(1)	c.C919T						.						171.0	162.0	165.0					20																	54824818		2203	4300	6503	SO:0001583	missense	4159	exon1			GAATTGCGCAACA		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	chr20.hg19:g.54824818C>T	ENSP00000243911:p.Arg307Cys	131.0	0.0		203.0	53.0	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	hg19	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC	.	.		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
CHRNA4	1137	hgsc.bcm.edu	37	20	61981053	61981053	+	Silent	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr20:61981053G>A	ENST00000370263.4	-	5	1931	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	570					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGTACTGGACGCCCTCCACCG	0.687																																					p.G570G		Atlas-SNP	.											.	CHRNA4	98	.	0			c.C1710T						.						45.0	53.0	51.0					20																	61981053		2201	4300	6501	SO:0001819	synonymous_variant	1137	exon5			CTGGACGCCCTCC		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1710C>T	chr20.hg19:g.61981053G>A		82.0	0.0		127.0	61.0	NM_000744	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	hg19	CCDS13517.1																																																																																			.	.		0.687	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
TPTE	7179	hgsc.bcm.edu	37	21	10971325	10971325	+	Missense_Mutation	SNP	G	G	T	rs139096194	byFrequency	TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr21:10971325G>T	ENST00000361285.4	-	5	361	c.32C>A	c.(31-33)gCg>gAg	p.A11E	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.A11E|TPTE_ENST00000298232.7_Missense_Mutation_p.A11E	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	11					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A11V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGACTCCCGCCAGGTCAGT	0.448																																					p.A11E		Atlas-SNP	.											TPTE_ENST00000361285,NS,carcinoma,+1,3	TPTE	513	.	1	Substitution - Missense(1)	large_intestine(1)	c.C32A						.						121.0	97.0	105.0					21																	10971325		2203	4300	6503	SO:0001583	missense	7179	exon5			ACTCCCGCCAGGT	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.32C>A	chr21.hg19:g.10971325G>T	ENSP00000355208:p.Ala11Glu	51.0	0.0		101.0	21.0	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	hg19	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.680387	0.00745	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.95342	-3.52;-3.61;-3.68	0.728	-1.46	0.08800	.	.	.	.	.	D	0.82875	0.5132	N	0.08118	0	0.09310	N	1	B;B;B	0.29936	0.001;0.262;0.0	B;B;B	0.29663	0.001;0.105;0.0	T	0.61501	-0.7050	9	0.29301	T	0.29	.	0.8066	0.01085	0.1897:0.1806:0.3753:0.2543	.	11;11;11	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	E	11	ENSP00000298232:A11E;ENSP00000355208:A11E;ENSP00000344441:A11E	ENSP00000298232:A11E	A	-	2	0	TPTE	9993196	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.248000	0.02890	-3.986000	0.00084	-2.931000	0.00088	GCG	.	G|1.000;A|0.000		0.448	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
KRTAP13-2	337959	hgsc.bcm.edu	37	21	31744148	31744148	+	Silent	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr21:31744148T>C	ENST00000399889.2	-	1	409	c.384A>G	c.(382-384)agA>agG	p.R128R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	128						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AACCCAGGGATCTGACACCAC	0.577																																					p.R128R		Atlas-SNP	.											.	KRTAP13-2	29	.	0			c.A384G						.						68.0	64.0	66.0					21																	31744148		2203	4300	6503	SO:0001819	synonymous_variant	337959	exon1			CAGGGATCTGACA	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.384A>G	chr21.hg19:g.31744148T>C		86.0	0.0		91.0	31.0	NM_181621		Silent	SNP	ENST00000399889.2	hg19	CCDS13589.1																																																																																			.	.		0.577	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1		
ELFN2	114794	hgsc.bcm.edu	37	22	37769399	37769399	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr22:37769399G>T	ENST00000402918.2	-	3	2961	c.2176C>A	c.(2176-2178)Cag>Aag	p.Q726K	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	726					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GACACGCGCTGGCTCAGGCTG	0.652																																					p.Q726K		Atlas-SNP	.											.	ELFN2	89	.	0			c.C2176A						.						43.0	41.0	41.0					22																	37769399		2202	4300	6502	SO:0001583	missense	114794	exon3			CGCGCTGGCTCAG	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2176C>A	chr22.hg19:g.37769399G>T	ENSP00000385277:p.Gln726Lys	41.0	0.0		107.0	5.0	NM_052906	Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	hg19	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002811	0.54254	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.51574	0.7;0.7	4.93	4.93	0.64822	.	0.138847	0.51477	D	0.000091	T	0.39911	0.1096	L	0.34521	1.04	0.80722	D	1	B	0.28233	0.204	B	0.21360	0.034	T	0.33394	-0.9870	10	0.56958	D	0.05	-23.9469	18.1427	0.89644	0.0:0.0:1.0:0.0	.	726	Q5R3F8	PPR29_HUMAN	K	726	ENSP00000300147:Q726K;ENSP00000385277:Q726K	ENSP00000300147:Q726K	Q	-	1	0	ELFN2	36099345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.526000	0.81920	2.265000	0.75225	0.561000	0.74099	CAG	.	.		0.652	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
CARD10	29775	hgsc.bcm.edu	37	22	37893159	37893159	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr22:37893159C>T	ENST00000403299.1	-	13	2030	c.1814G>A	c.(1813-1815)cGg>cAg	p.R605Q	CARD10_ENST00000251973.5_Missense_Mutation_p.R605Q|CARD10_ENST00000406271.3_Missense_Mutation_p.R319Q			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	605					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TGGGGGGCTCCGGCCAGACAC	0.567																																					p.R605Q		Atlas-SNP	.											.	CARD10	55	.	0			c.G1814A						.						55.0	64.0	61.0					22																	37893159		2203	4300	6503	SO:0001583	missense	29775	exon12			GGGCTCCGGCCAG	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1814G>A	chr22.hg19:g.37893159C>T	ENSP00000384570:p.Arg605Gln	84.0	0.0		149.0	80.0	NM_014550	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	hg19	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567962	0.45798	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.40225	1.04;2.74;1.04;1.49	5.52	3.2	0.36748	.	1.067200	0.07216	N	0.860036	T	0.28134	0.0694	L	0.40543	1.245	0.25159	N	0.990365	B;P	0.45283	0.397;0.855	B;B	0.34536	0.042;0.185	T	0.13980	-1.0489	10	0.33940	T	0.23	-3.5096	4.8979	0.13760	0.2134:0.6774:0.0:0.1091	.	605;319	Q9BWT7;Q8NC81	CAR10_HUMAN;.	Q	605;319;605;246;77	ENSP00000384570:R605Q;ENSP00000385799:R319Q;ENSP00000251973:R605Q;ENSP00000416239:R246Q	ENSP00000251973:R605Q	R	-	2	0	CARD10	36223105	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.679000	0.37597	2.586000	0.87340	0.655000	0.94253	CGG	.	.		0.567	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
ACO2	50	hgsc.bcm.edu	37	22	41895734	41895734	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr22:41895734C>G	ENST00000216254.4	+	2	63	c.41C>G	c.(40-42)gCt>gGt	p.A14G	ACO2_ENST00000396512.3_Missense_Mutation_p.A14G	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	14					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TTGCAGAAAGCTCTGGGTGTG	0.522																																					p.A14G		Atlas-SNP	.											.	ACO2	58	.	0			c.C41G						.						198.0	195.0	196.0					22																	41895734		2203	4300	6503	SO:0001583	missense	50	exon2			AGAAAGCTCTGGG	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.41C>G	chr22.hg19:g.41895734C>G	ENSP00000216254:p.Ala14Gly	19.0	0.0		27.0	10.0	NM_001098	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	hg19	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029533	0.54790	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.46063	0.88;0.88	5.01	3.97	0.46021	.	0.207502	0.49916	D	0.000140	T	0.37812	0.1017	L	0.53249	1.67	0.58432	D	0.999993	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.18555	-1.0333	10	0.26408	T	0.33	.	14.2913	0.66281	0.0:0.9242:0.0:0.0758	.	14;14	A2A274;Q99798	.;ACON_HUMAN	G	14	ENSP00000216254:A14G;ENSP00000379769:A14G	ENSP00000216254:A14G	A	+	2	0	ACO2	40225680	0.409000	0.25368	1.000000	0.80357	0.967000	0.64934	0.721000	0.25911	2.483000	0.83821	0.585000	0.79938	GCT	.	.		0.522	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098	
PKDREJ	10343	hgsc.bcm.edu	37	22	46657638	46657638	+	Silent	SNP	G	G	T	rs369645000		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr22:46657638G>T	ENST00000253255.5	-	1	1581	c.1582C>A	c.(1582-1584)Cgg>Agg	p.R528R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	528	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		R -> Q (in dbSNP:rs6008394).		acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R528W(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAAAATGCCGAAAAGCAAAA	0.408																																					p.R528R		Atlas-SNP	.											PKDREJ,NS,carcinoma,0,1	PKDREJ	195	.	1	Substitution - Missense(1)	cervix(1)	c.C1582A						.						101.0	113.0	109.0					22																	46657638		2203	4300	6503	SO:0001819	synonymous_variant	10343	exon1			AATGCCGAAAAGC	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1582C>A	chr22.hg19:g.46657638G>T		93.0	0.0		96.0	4.0	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	hg19	CCDS14073.1																																																																																			.	.		0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
CXorf38	159013	hgsc.bcm.edu	37	X	40498275	40498275	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:40498275T>G	ENST00000327877.5	-	3	483	c.457A>C	c.(457-459)Aag>Cag	p.K153Q	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Missense_Mutation_p.K34Q|CXorf38_ENST00000378426.1_Missense_Mutation_p.K34Q	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	153										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GTGACTTTCTTTCGATCAACC	0.483																																					p.K153Q		Atlas-SNP	.											.	CXorf38	29	.	0			c.A457C						.						156.0	108.0	124.0					X																	40498275		2203	4300	6503	SO:0001583	missense	159013	exon3			CTTTCTTTCGATC	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.457A>C	chrX.hg19:g.40498275T>G	ENSP00000330488:p.Lys153Gln	86.0	0.0		109.0	39.0	NM_144970	B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	hg19	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057045	0.36277	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421	T;T;T	0.47869	0.83;0.83;0.83	4.25	4.25	0.50352	.	0.374635	0.25663	N	0.029125	T	0.42607	0.1210	L	0.60455	1.87	0.80722	D	1	P	0.44429	0.835	B	0.41088	0.347	T	0.43491	-0.9388	10	0.56958	D	0.05	-8.1426	7.5894	0.28012	0.1927:0.0:0.0:0.8073	.	153	Q8TB03	CX038_HUMAN	Q	34;153;34	ENSP00000367683:K34Q;ENSP00000330488:K153Q;ENSP00000367677:K34Q	ENSP00000330488:K153Q	K	-	1	0	CXorf38	40383219	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	2.422000	0.44696	1.691000	0.51100	0.483000	0.47432	AAG	.	.		0.483	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970	
CXorf36	79742	hgsc.bcm.edu	37	X	45011086	45011086	+	Silent	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:45011086C>T	ENST00000398000.2	-	5	1187	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	371						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GGAACCTCCCCTGGAGAAGTC	0.617																																					p.Q371Q		Atlas-SNP	.											.	CXorf36	53	.	0			c.G1113A						.						35.0	32.0	33.0					X																	45011086		1568	3582	5150	SO:0001819	synonymous_variant	79742	exon5			CCTCCCCTGGAGA	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1113G>A	chrX.hg19:g.45011086C>T		153.0	0.0		149.0	53.0	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	hg19	CCDS48096.1																																																																																			.	.		0.617	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
FAM46D	169966	hgsc.bcm.edu	37	X	79698375	79698375	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:79698375C>T	ENST00000308293.5	+	3	576	c.337C>T	c.(337-339)Cca>Tca	p.P113S	FAM46D_ENST00000538312.1_Missense_Mutation_p.P113S	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	113										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGACTTTTTACCAAAAGATGT	0.393																																					p.P113S		Atlas-SNP	.											.	FAM46D	69	.	0			c.C337T						.						91.0	87.0	88.0					X																	79698375		2203	4299	6502	SO:0001583	missense	169966	exon5			TTTTTACCAAAAG	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.337C>T	chrX.hg19:g.79698375C>T	ENSP00000308575:p.Pro113Ser	154.0	0.0		158.0	52.0	NM_001170574	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	hg19	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409143	0.42715	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.47177	0.85;0.85	4.27	4.27	0.50696	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78168	-0.2309	10	0.54805	T	0.06	-7.9	14.5078	0.67764	0.0:1.0:0.0:0.0	.	113	Q8NEK8	FA46D_HUMAN	S	113	ENSP00000443410:P113S;ENSP00000308575:P113S	ENSP00000308575:P113S	P	+	1	0	FAM46D	79585031	1.000000	0.71417	0.994000	0.49952	0.223000	0.24884	7.323000	0.79105	1.965000	0.57142	0.538000	0.68166	CCA	.	.		0.393	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
GPR101	83550	hgsc.bcm.edu	37	X	136113472	136113472	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:136113472G>T	ENST00000298110.1	-	1	361	c.362C>A	c.(361-363)aCc>aAc	p.T121N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGACAATGGTGTTGACGCT	0.607																																					p.T121N		Atlas-SNP	.											.	GPR101	96	.	0			c.C362A						.						88.0	63.0	71.0					X																	136113472		2203	4300	6503	SO:0001583	missense	83550	exon1			ACAATGGTGTTGA	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.362C>A	chrX.hg19:g.136113472G>T	ENSP00000298110:p.Thr121Asn	39.0	0.0		73.0	36.0	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	hg19	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712548	0.48517	.	.	ENSG00000165370	ENST00000298110	T	0.19806	2.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.235140	0.22147	N	0.063967	T	0.27559	0.0677	N	0.21617	0.685	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.02009	-1.1230	10	0.02654	T	1	-30.3191	14.8214	0.70077	0.0:0.0:1.0:0.0	.	121	Q96P66	GP101_HUMAN	N	121	ENSP00000298110:T121N	ENSP00000298110:T121N	T	-	2	0	GPR101	135941138	1.000000	0.71417	0.994000	0.49952	0.382000	0.30200	3.009000	0.49552	2.081000	0.62600	0.600000	0.82982	ACC	.	.		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
MT-CO2	4513	hgsc.bcm.edu	37	M	7775	7775	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrM:7775G>A	ENST00000361739.1	+	1	190	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	64					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AAATAGAAACCGTCTGAACTA	0.463																																					p.V64I		Atlas-SNP	.											.	.	.	.	0			c.G190A						.																																			SO:0001583	missense	5743	exon1			GAAACCGTCTGAA			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.190G>A	chrM.hg19:g.7775G>A	ENSP00000354876:p.Val64Ile	1.0	0.0		13.0	13.0	ENST00000361739	Q37526	Missense_Mutation	SNP	ENST00000361739.1	hg19																																																																																				.	.		0.463	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029	
BCLAF1	9774	hgsc.bcm.edu	37	6	136582246	136582439	+	Stop_Codon_Del	DEL	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	-	rs376948280|rs537502804|rs562481221|rs527483217|rs62431283|rs112744301|rs62431282|rs370252607|rs570210520|rs111800140|rs193167212|rs375440569	byFrequency	TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	TGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr6:136582246_136582439delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	ENST00000531224.1	-	0	2973_3017				BCLAF1_ENST00000031135.9_Stop_Codon_Del|BCLAF1_ENST00000530767.1_Stop_Codon_Del|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Stop_Codon_Del|BCLAF1_ENST00000527536.1_Stop_Codon_Del|BCLAF1_ENST00000392348.2_Stop_Codon_Del|BCLAF1_ENST00000353331.4_Stop_Codon_Del	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATTTTATACCTTTTCTTCCTTGCGTCTGTCCTTCTTTTCTTCATTATTTTCCATGG	0.315																																					p.920_921del	Colon(142;1534 1789 5427 7063 28491)	Pindel	.											.	BCLAF1	203	.	0			c.2758_3016del						.																																			SO:0001567	stop_retained_variant	9774	exon13			.	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	Exception_encountered	chr6.hg19:g.136582246_136582439delTGGTGGGTGCAAGTTCTGCTCTGTTGTAATCTTACTTCATATTTATTATTCCTAAAAGAGAGAGAAAAAATTAAAGATTAACAAAAGATGCGGAGAGTGAAAAGGAACCATATTAATAATTGTTCCTAAAAATGAAATAATTCACCCACCAAACCTATATCAAAAAAAATCTGTCAGAATCACAAGTTGAAATT	Exception_encountered	320.0	0.0		273.0	11.0	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	hg19	CCDS5177.1																																																																																			.	.		0.315	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
