#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_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_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_TranscriptID	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_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
AADACL3	126767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	AADACL3	22	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	1.37:g.12785194G>A	ENSP00000352268:p.Arg95His	114.0	0.0		136.0	36.0	NM_001103170	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	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	
ACACB	32	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000543201.1_Missense_Mutation_p.F224L|ACACB_ENST00000377854.5_Missense_Mutation_p.F1488L|ACACB_ENST00000377848.3_Missense_Mutation_p.F1558L			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		.											.	ACACB	98	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	12.37: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	37	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	
ACO2	50	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	ACO2	290	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	22.37: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	37	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	
ADCY7	113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000566433.2_Silent_p.R583R|ADCY7_ENST00000538642.1_Silent_p.R583R|ADCY7_ENST00000254235.3_Silent_p.R583R|ADCY7_ENST00000537579.1_3'UTR			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		.											.	ADCY7	91	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	16.37:g.50339757C>T		106.0	0.0		113.0	41.0	NM_001114	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																			.		0.672	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
ALMS1	7840	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	ALMS1	142	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	2.37: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	37	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	
ATP4A	495	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36050844	36050844	+	Missense_Mutation	SNP	C	C	T	rs567483940	byFrequency	TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:36050844C>T	ENST00000262623.3	-	7	947	c.919G>A	c.(919-921)Gcg>Acg	p.A307T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	307					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCCAGGCCCGCGATGATGTCC	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		21118	0.002		0.0	False		,,,				2504	0.0				p.A307T		.											.	ATP4A	91	0			c.G919A						.						145.0	111.0	122.0					19																	36050844		2203	4300	6503	SO:0001583	missense	495	exon7			GGCCCGCGATGAT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.919G>A	19.37:g.36050844C>T	ENSP00000262623:p.Ala307Thr	183.0	1.0		185.0	53.0	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	8.739	0.918554	0.17982	.	.	ENSG00000105675	ENST00000262623	D	0.90324	-2.65	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.078254	0.48286	D	0.000193	D	0.88876	0.6556	N	0.21097	0.63	0.42227	D	0.991871	D	0.76494	0.999	D	0.71656	0.974	D	0.84403	0.0561	10	0.02654	T	1	.	13.5911	0.61961	0.0:1.0:0.0:0.0	.	307	P20648	ATP4A_HUMAN	T	307	ENSP00000262623:A307T	ENSP00000262623:A307T	A	-	1	0	ATP4A	40742684	0.998000	0.40836	0.984000	0.44739	0.705000	0.40729	2.011000	0.40922	2.146000	0.66826	0.561000	0.74099	GCG	.		0.562	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
DQX1	165545	broad.mit.edu;bcgsc.ca	37	2	74754660	74754660	+	5'Flank	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr2:74754660A>T	ENST00000404568.3	-	0	0				DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.L300Q	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCTCTGAGCCAGAGTTGCCAG	0.512																																					p.L300Q		.											.	AUP1	90	0			c.T899A						.						104.0	107.0	106.0					2																	74754660		1880	4115	5995	SO:0001631	upstream_gene_variant	550	exon9			TGAGCCAGAGTTG	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754660A>T	Exception_encountered	62.0	0.0		85.0	5.0	NM_181575	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993441	0.74703	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.84	5.84	0.93424	Ubiquitin system component Cue (2);	0.129412	0.51477	D	0.000083	T	0.74891	0.3776	L	0.53249	1.67	0.52099	D	0.999948	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.77557	0.99;0.99;0.899	T	0.77259	-0.2654	9	0.87932	D	0	-9.7312	14.1823	0.65583	1.0:0.0:0.0:0.0	.	357;366;300	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	Q	300;364;302	.	ENSP00000258081:L364Q	L	-	2	0	AUP1	74608168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.762000	0.91711	2.228000	0.72767	0.533000	0.62120	CTG	.		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
FOXL2NB	401089	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	C3orf72	22	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	3.37:g.138669208G>A	ENSP00000372651:p.Ala108Thr	51.0	0.0		76.0	26.0	NM_001040061	A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	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		
C7orf43	55262	hgsc.bcm.edu;broad.mit.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	Phase_I	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_ENST00000394035.2_5'Flank|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Missense_Mutation_p.A142D|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Missense_Mutation_p.A105D	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		.											.	C7orf43	90	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	7.37: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	37	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	
CAMTA1	23261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	CAMTA1	520	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	1.37:g.7723459C>T		126.0	0.0		135.0	44.0	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																			.		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
CAMK2N1	55450	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	CAMK2N1	93	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	1.37:g.20811831G>T		42.0	0.0		43.0	14.0	NM_018584		Silent	SNP	ENST00000375078.3	37	CCDS207.1																																																																																			.		0.741	CAMK2N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007949.1	NM_018584	
CARD10	29775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000406271.3_Missense_Mutation_p.R319Q|CARD10_ENST00000251973.5_Missense_Mutation_p.R605Q			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		.											.	CARD10	662	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	22.37: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	37	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	
CCDC79	283847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	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	Phase_I	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_ENST00000433154.1_Splice_Site_p.V91V|CCDC79_ENST00000432602.1_Splice_Site_p.V91V|CCDC79_ENST00000415744.1_Splice_Site_p.V91V|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433574.1_Splice_Site_p.V91V			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		.											.	.	.	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	16.37:g.66822199A>C		364.0	1.0		461.0	147.0	NM_001136505	A0AUW1	Silent	SNP	ENST00000558713.2	37																																																																																				.		0.284	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000418864.2		Silent
CEP70	80321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000481834.1_Missense_Mutation_p.Q92R|CEP70_ENST00000464035.1_Missense_Mutation_p.Q92R|CEP70_ENST00000542237.1_Missense_Mutation_p.Q72R|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.Q92R|CEP70_ENST00000489254.1_Intron	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		.											.	CEP70	69	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	3.37:g.138289885T>C	ENSP00000264982:p.Gln92Arg	182.0	0.0		210.0	59.0	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	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	
CHRNA4	1137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	CHRNA4	91	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	20.37:g.61981053G>A		82.0	0.0		127.0	61.0	NM_000744	Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	CCDS13517.1																																																																																			.		0.687	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3		
COL4A6	1288	ucsc.edu;bcgsc.ca	37	X	107402853	107402853	+	Missense_Mutation	SNP	G	G	T	rs201417622		TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:107402853G>T	ENST00000372216.4	-	44	4754	c.4654C>A	c.(4654-4656)Ccc>Acc	p.P1552T	COL4A6_ENST00000394872.2_Missense_Mutation_p.P1552T|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1551T|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1494T|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1527T|COL4A6_ENST00000418180.1_Missense_Mutation_p.P86T	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1552	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCATCATGGGGATAGGGGCG	0.562									Alport syndrome with Diffuse Leiomyomatosis																												p.P1552T	Melanoma(87;1895 1945 2589 7165)	.											.	COL4A6	199	0			c.C4654A						.						135.0	115.0	122.0					X																	107402853		2203	4300	6503	SO:0001583	missense	1288	exon44	Familial Cancer Database		TCATGGGGATAGG	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4654C>A	X.37:g.107402853G>T	ENSP00000361290:p.Pro1552Thr	202.0	2.0		257.0	106.0	NM_001847	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457806	0.63401	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38;-3.38	5.06	5.06	0.68205	C-type lectin fold (1);	0.000000	0.42053	D	0.000777	D	0.96821	0.8962	M	0.83692	2.655	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.998	D	0.96573	0.9424	10	0.45353	T	0.12	.	18.2367	0.89951	0.0:0.0:1.0:0.0	.	1527;86;1494;1552;1551	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	T	86;1552;1551;1552;1539;1527;1494	ENSP00000406002:P86T;ENSP00000361290:P1552T;ENSP00000334733:P1551T;ENSP00000378340:P1552T;ENSP00000443707:P1527T;ENSP00000445236:P1494T	ENSP00000334733:P1551T	P	-	1	0	COL4A6	107289509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.766000	0.98957	2.440000	0.82611	0.529000	0.55759	CCC	G|0.999;C|0.001		0.562	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
CROT	54677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:86986879T>C	ENST00000331536.3	+	4	300				CROT_ENST00000412227.2_Intron|CROT_ENST00000419147.2_Silent_p.L58L|CROT_ENST00000442291.1_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		.											.	CROT	280	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	7.37:g.86986879T>C		28.0	0.0		32.0	9.0	NM_001143935	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	CCDS5604.1																																																																																			.		0.483	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
CXorf38	159013	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000378426.1_Missense_Mutation_p.K34Q|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_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		.											.	CXorf38	131	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	X.37: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	37	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;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	CXorf36	130	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	X.37:g.45011086C>T		153.0	0.0		149.0	53.0	NM_176819	A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	CCDS48096.1																																																																																			.		0.617	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689	
DCC	1630	broad.mit.edu;bcgsc.ca	37	18	50278659	50278659	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr18:50278659G>T	ENST00000442544.2	+	2	943	c.327G>T	c.(325-327)aaG>aaT	p.K109N	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	109	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACACCACAAGCCAGATGAGG	0.443																																					p.K109N		.											.	DCC	225	0			c.G327T						.						146.0	134.0	138.0					18																	50278659		2203	4300	6503	SO:0001583	missense	1630	exon2			CCACAAGCCAGAT	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.327G>T	18.37:g.50278659G>T	ENSP00000389140:p.Lys109Asn	126.0	1.0		190.0	8.0	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536427	0.27475	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.12569	2.67	5.3	0.332	0.15938	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.074336	0.52532	D	0.000080	T	0.24431	0.0592	M	0.66506	2.035	0.80722	D	1	D	0.56521	0.976	P	0.56398	0.797	T	0.02121	-1.1210	10	0.62326	D	0.03	.	9.5055	0.39044	0.4409:0.0:0.5591:0.0	.	109	P43146	DCC_HUMAN	N	109;42	ENSP00000389140:K109N	ENSP00000304146:K42N	K	+	3	2	DCC	48532657	0.999000	0.42202	0.996000	0.52242	0.995000	0.86356	0.677000	0.25262	0.224000	0.20940	0.655000	0.94253	AAG	.		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DMXL2	23312	broad.mit.edu;bcgsc.ca	37	15	51757753	51757761	+	Splice_Site	DEL	CCAAACTCA	CCAAACTCA	-			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	CCAAACTCA	CCAAACTCA	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:51757753_51757761delCCAAACTCA	ENST00000251076.5	-	31	7891		c.e31+1		DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		tttttaaattCCAAACTCACCAGAGAATT	0.321																																					.		.											.	DMXL2	99	0			.						.																																			SO:0001630	splice_region_variant	23312	.			TAAATTCCAAACT	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7603+1TGAGTTTGG>-	15.37:g.51757753_51757761delCCAAACTCA		204.0	0.0		207.0	32.0	.	B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	DEL	ENST00000251076.5	37	CCDS10141.1																																																																																			.		0.321	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron
DPF2	5977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	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	Phase_I	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_ENST00000252268.4_Missense_Mutation_p.R364G|DPF2_ENST00000415073.2_Missense_Mutation_p.R166G	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		.											.	DPF2	91	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	11.37:g.65116351C>G	ENSP00000436901:p.Arg350Gly	139.0	0.0		158.0	9.0	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	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	
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.E341Q|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		.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1	92	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	5.37:g.158158157C>G	ENSP00000322898:p.Glu349Gln	53.0	0.0		84.0	30.0	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	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	
EYS	346007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	EYS	660	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	6.37: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	37																																																																																				.		0.463	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
F10	2159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	F10	227	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	13.37:g.113795287A>T	ENSP00000364709:p.Glu142Val	91.0	0.0		117.0	27.0	NM_000504	Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	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		
FAM135B	51059	broad.mit.edu;bcgsc.ca	37	8	139164944	139164944	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr8:139164944G>T	ENST00000395297.1	-	13	1944	c.1774C>A	c.(1774-1776)Cta>Ata	p.L592I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	592										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTTTGCTTAGCCCAGTCCTG	0.453										HNSCC(54;0.14)																											p.L592I		.											.	FAM135B	31	0			c.C1774A						.						177.0	168.0	171.0					8																	139164944		1912	4131	6043	SO:0001583	missense	51059	exon13			TGCTTAGCCCAGT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1774C>A	8.37:g.139164944G>T	ENSP00000378710:p.Leu592Ile	70.0	0.0		72.0	6.0	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	5.386	0.256428	0.10185	.	.	ENSG00000147724	ENST00000395297	T	0.13901	2.55	4.7	-4.45	0.03546	.	2.678910	0.01092	N	0.005189	T	0.11196	0.0273	L	0.40543	1.245	0.09310	N	1	B;B;B	0.11235	0.003;0.004;0.0	B;B;B	0.12156	0.007;0.005;0.001	T	0.27297	-1.0078	10	0.19147	T	0.46	6.6319	7.4336	0.27141	0.6093:0.0:0.1611:0.2296	.	592;592;592	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	I	592	ENSP00000378710:L592I	ENSP00000276737:L592I	L	-	1	2	FAM135B	139234126	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.117000	0.15583	-0.874000	0.04027	-1.105000	0.02106	CTA	.		0.453	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM46D	169966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	FAM46D	130	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	X.37:g.79698375C>T	ENSP00000308575:p.Pro113Ser	154.0	0.0		158.0	52.0	NM_001170574	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	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	
FCGRT	2217	broad.mit.edu;ucsc.edu	37	19	50017250	50017250	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:50017250A>T	ENST00000221466.5	+	3	671	c.185A>T	c.(184-186)aAt>aTt	p.N62I	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.N62I|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.N62I	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	62	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGAGCTACAATAGCCTGCGG	0.632																																					p.N62I		.											.	FCGRT	91	0			c.A185T						.						64.0	71.0	68.0					19																	50017250		2203	4300	6503	SO:0001583	missense	2217	exon3			GCTACAATAGCCT	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.185A>T	19.37:g.50017250A>T	ENSP00000221466:p.Asn62Ile	72.0	0.0		71.0	4.0	NM_001136019	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.679571	0.29783	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.00932	5.53;5.53	4.6	-3.5	0.04710	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.773939	0.11175	N	0.591547	T	0.03390	0.0098	M	0.78801	2.425	0.09310	N	1	D	0.63046	0.992	P	0.62885	0.908	T	0.07366	-1.0776	10	0.87932	D	0	.	8.4758	0.33012	0.6505:0.0:0.3495:0.0	.	62	P55899	FCGRN_HUMAN	I	62	ENSP00000221466:N62I;ENSP00000410798:N62I	ENSP00000221466:N62I	N	+	2	0	FCGRT	54709062	0.003000	0.15002	0.006000	0.13384	0.001000	0.01503	-0.096000	0.11059	-0.456000	0.07043	-1.144000	0.01866	AAT	.		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1		
FILIP1	27145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	FILIP1	94	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	6.37:g.76124503A>T		219.0	0.0		244.0	67.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	CCDS4984.1																																																																																			.		0.398	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
FRAS1	80144	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	79229242	79229242	+	Silent	SNP	T	T	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr4:79229242T>C	ENST00000325942.6	+	15	1997	c.1557T>C	c.(1555-1557)ggT>ggC	p.G519G	FRAS1_ENST00000264899.6_Silent_p.G519G|FRAS1_ENST00000264895.6_Silent_p.G519G	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	519					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTGTGCAGGTTGCTGGGGCC	0.498																																					p.G519G		.											.	FRAS1	68	0			c.T1557C						.						59.0	64.0	62.0					4																	79229242		2082	4225	6307	SO:0001819	synonymous_variant	80144	exon15			TGCAGGTTGCTGG	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1557T>C	4.37:g.79229242T>C		124.0	2.0		130.0	40.0	NM_001166133	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	T	6.164	0.398377	0.11696	.	.	ENSG00000138759	ENST00000502446	.	.	.	5.57	-1.13	0.09775	.	.	.	.	.	T	0.39036	0.1063	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.30475	-0.9977	4	.	.	.	.	0.5136	0.00599	0.175:0.221:0.2583:0.3458	.	.	.	.	A	448	.	.	V	+	2	0	FRAS1	79448266	0.063000	0.20901	0.630000	0.29268	0.585000	0.36419	-0.271000	0.08572	0.046000	0.15833	-0.462000	0.05337	GTT	.		0.498	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
GDF10	2662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	GDF10	650	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	10.37:g.48428812G>A		122.0	0.0		160.0	49.0	NM_004962	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																			.		0.637	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
GET4	51608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	GET4	90	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	7.37: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	37	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	
GJA8	2703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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)	.											.	GJA8	138	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	1.37:g.147380859C>T		72.0	0.0		110.0	39.0	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	CCDS30834.1																																																																																			.		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
HUWE1	10075	broad.mit.edu;bcgsc.ca	37	X	53577955	53577955	+	Silent	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:53577955G>T	ENST00000342160.3	-	64	9749	c.9292C>A	c.(9292-9294)Cga>Aga	p.R3098R	HUWE1_ENST00000262854.6_Silent_p.R3098R|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3098					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTTGCTCTCGTCTCAGGGCT	0.577																																					p.R3098R		.											.	HUWE1	280	0			c.C9292A						.						74.0	58.0	63.0					X																	53577955		2203	4300	6503	SO:0001819	synonymous_variant	10075	exon65			GCTCTCGTCTCAG	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9292C>A	X.37:g.53577955G>T		136.0	0.0		131.0	6.0	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	8.804	0.933572	0.18206	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.88	4.06	0.47325	.	.	.	.	.	T	0.68796	0.3040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65245	-0.6215	4	.	.	.	.	13.3172	0.60413	0.0:0.0:0.712:0.288	.	.	.	.	K	2131	.	.	T	-	2	0	HUWE1	53594680	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.276000	0.43408	0.583000	0.29574	-0.237000	0.12165	ACG	.		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
GPR101	83550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	GPR101	134	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	X.37:g.136113472G>T	ENSP00000298110:p.Thr121Asn	39.0	0.0		73.0	36.0	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	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		
INO80	54617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	INO80	72	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	15.37:g.41388013C>A	ENSP00000355205:p.Gly86Val	93.0	0.0		101.0	33.0	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	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	
IGDCC3	9543	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	IGDCC3	93	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	15.37:g.65622666C>T	ENSP00000332773:p.Arg608His	97.0	0.0		107.0	40.0	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	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	
IRX1	79192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	IRX1	228	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	5.37:g.3599546A>G	ENSP00000305244:p.Met162Val	123.0	0.0		117.0	43.0	NM_024337	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	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	
ITPR1	3708	broad.mit.edu;bcgsc.ca	37	3	4681100	4681100	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr3:4681100G>T	ENST00000443694.2	+	4	312	c.312G>T	c.(310-312)gaG>gaT	p.E104D	ITPR1_ENST00000357086.4_Missense_Mutation_p.E104D|ITPR1_ENST00000423119.2_Missense_Mutation_p.E104D|ITPR1_ENST00000544951.1_Missense_Mutation_p.E104D|ITPR1_ENST00000302640.8_Missense_Mutation_p.E104D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E104D|ITPR1_ENST00000456211.2_Missense_Mutation_p.E104D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	104					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGCAGAATGAGACAGAAAACA	0.468																																					p.E104D		.											.	ITPR1	710	0			c.G312T						.						76.0	78.0	77.0					3																	4681100		1973	4166	6139	SO:0001583	missense	3708	exon6			GAATGAGACAGAA	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.312G>T	3.37:g.4681100G>T	ENSP00000401671:p.Glu104Asp	108.0	0.0		135.0	8.0	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291833	0.40594	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97665	-2.91;-2.93;-2.93;-2.93;-2.91;-4.48;-2.91	5.32	3.54	0.40534	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.097704	0.64402	D	0.000001	D	0.93200	0.7834	L	0.39085	1.19	0.33545	D	0.595326	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0	B;B;B;B;B	0.15052	0.001;0.008;0.012;0.004;0.001	D	0.90497	0.4471	10	0.25106	T	0.35	.	10.096	0.42475	0.2328:0.0:0.7672:0.0	.	104;104;104;104;104	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	D	104	ENSP00000306253:E104D;ENSP00000346595:E104D;ENSP00000405934:E104D;ENSP00000349597:E104D;ENSP00000397885:E104D;ENSP00000440564:E104D;ENSP00000401671:E104D	ENSP00000306253:E104D	E	+	3	2	ITPR1	4656100	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.083000	0.57643	0.755000	0.32990	-0.142000	0.14014	GAG	.		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
KCNN4	3783	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	KCNN4	92	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	19.37:g.44278585C>G	ENSP00000262888:p.Gly148Arg	62.0	0.0	922	47.0	18.0	NM_002250	Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	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	
KRTAP13-2	337959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	KRTAP13-2	90	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	21.37:g.31744148T>C		86.0	0.0		91.0	31.0	NM_181621		Silent	SNP	ENST00000399889.2	37	CCDS13589.1																																																																																			.		0.577	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1		
LMNB2	84823	ucsc.edu;bcgsc.ca	37	19	2431870	2431870	+	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	.	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr19:2431870T>C	ENST00000582871.1	-	10	1647	c.1561A>G	c.(1561-1563)Agc>Ggc	p.S521G	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.S541G	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	521	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGGGGGCTGTGGGCCACC	0.682																																					p.S541G		.											.	LMNB2	290	0			c.A1621G						.						31.0	30.0	30.0					19																	2431870		2195	4297	6492	SO:0001583	missense	84823	exon10			GGGGGCTGTGGGC	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1561A>G	19.37:g.2431870T>C	ENSP00000462730:p.Ser521Gly	32.0	0.0		44.0	4.0	NM_032737	O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37		.	.	.	.	.	.	.	.	.	.	T	15.26	2.781180	0.49891	.	.	ENSG00000176619	ENST00000325327	.	.	.	3.73	3.73	0.42828	Intermediate filament, C-terminal (1);	0.046296	0.85682	D	0.000000	T	0.74199	0.3685	M	0.71036	2.16	0.58432	D	0.999998	D	0.65815	0.995	D	0.68621	0.959	T	0.74100	-0.3774	9	0.39692	T	0.17	.	11.4059	0.49898	0.0:0.0:0.0:1.0	.	521	Q03252	LMNB2_HUMAN	G	521	.	ENSP00000327054:S521G	S	-	1	0	LMNB2	2382870	1.000000	0.71417	0.982000	0.44146	0.009000	0.06853	4.759000	0.62227	1.574000	0.49760	0.467000	0.42956	AGC	.		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737	
LNPEP	4012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	LNPEP	229	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	5.37:g.96350727C>T		114.0	0.0		152.0	13.0	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	CCDS4087.1																																																																																			.		0.443	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
MAP4K3	8491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	MAP4K3	550	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	2.37: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	37	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	
MC3R	4159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											MC3R,NS,carcinoma,0	MC3R	660	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	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys	131.0	0.0		203.0	53.0	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	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		
MGA	23269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	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	Phase_I	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_ENST00000219905.7_Nonsense_Mutation_p.W1344*|MGA_ENST00000566586.1_Nonsense_Mutation_p.W1344*|MGA_ENST00000545763.1_Nonsense_Mutation_p.W1344*|MGA_ENST00000389936.4_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		.											.	MGA	522	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	15.37:g.42028493G>A	ENSP00000457035:p.Trp1344*	83.0	0.0		96.0	33.0	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	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	
MINK1	50488	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000453408.3_Silent_p.R296R|MINK1_ENST00000347992.7_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		.											.	MINK1	943	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	17.37:g.4789860G>A		55.0	0.0		65.0	20.0	NM_170663		Silent	SNP	ENST00000355280.6	37	CCDS45588.1																																																																																			.		0.587	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716	
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	MUC16	566	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	19.37:g.9074914A>G	ENSP00000381008:p.Ser4178Pro	128.0	0.0		181.0	64.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	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	
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	MYT1L	95	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	2.37: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	37		.	.	.	.	.	.	.	.	.	.	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	
NDST4	64579	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	NDST4	94	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	4.37:g.115773896C>G	ENSP00000264363:p.Gly601Arg	132.0	0.0		133.0	40.0	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	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	
NLRP4	147945	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	NLRP4	216	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	19.37:g.56369797C>T		49.0	0.0		74.0	32.0	NM_134444	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																			.		0.478	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
OR14A16	284532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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)	.											.	OR14A16	46	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	1.37:g.247978151A>G	ENSP00000350248:p.Ile294Thr	139.0	0.0		150.0	31.0	NM_001001966	Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	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	
PHAX	51808	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	PHAX	90	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	5.37:g.125944167C>A		56.0	0.0		79.0	20.0	NM_032177	Q9H8W1	Silent	SNP	ENST00000297540.4	37	CCDS4138.1																																																																																			.		0.348	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
PCDHA12	56137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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	PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_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)	.											.	.	.	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	5.37:g.140255085G>C	ENSP00000381628:p.Gly10Arg	49.0	0.0		92.0	33.0	NM_018903	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	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	
PIGB	9488	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.E335K|CCPG1_ENST00000442196.3_3'UTR	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		.											.	PIGB	226	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	15.37:g.55647553G>A	ENSP00000164305:p.Glu530Lys	147.0	0.0		181.0	13.0	NM_004855	Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37		.	.	.	.	.	.	.	.	.	.	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	
PIK3C2B	5287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	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	Phase_I	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		.											.	PIK3C2B	1310	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	1.37:g.204394000G>A	ENSP00000356155:p.Arg1629*	106.0	0.0		117.0	50.0	NM_002646	O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	37	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	
PLA2G4C	8605	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000599111.1_Missense_Mutation_p.A136P|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A126P|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A126P			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		.											.	PLA2G4C	92	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	19.37: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	37	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		
PLA2R1	22925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	PLA2R1	93	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	2.37: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	37	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		
POU5F1B	5462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	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	Phase_I	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_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.K177K|CASC8_ENST00000501396.1_RNA			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		.											.	.	.	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	8.37: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	37	CCDS55274.1																																																																																			.		0.532	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349649.2	NM_001159542	
PRKG1	5592	broad.mit.edu;bcgsc.ca	37	10	52751168	52751168	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr10:52751168G>C	ENST00000401604.2	+	1	224	c.30G>C	c.(28-30)aaG>aaC	p.K10N	PRKG1_ENST00000373985.1_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	10	Leucine-zipper.|Required for dimerization.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACTTTGCCAAGATTCTCATGC	0.577																																					p.K10N		.											.	PRKG1	523	0			c.G30C						.						24.0	28.0	27.0					10																	52751168		1876	4099	5975	SO:0001583	missense	5592	exon1			TGCCAAGATTCTC		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.30G>C	10.37:g.52751168G>C	ENSP00000384200:p.Lys10Asn	180.0	1.0		237.0	10.0	NM_001098512	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389615	0.61956	.	.	ENSG00000185532	ENST00000401604	T	0.69306	-0.39	4.76	4.76	0.60689	.	.	.	.	.	T	0.61274	0.2334	L	0.48642	1.525	0.47476	D	0.999435	B;B	0.23058	0.079;0.023	B;B	0.20767	0.031;0.029	T	0.60845	-0.7182	9	0.49607	T	0.09	.	15.5982	0.76602	0.0:0.0:1.0:0.0	.	10;10	B4DT93;Q13976	.;KGP1_HUMAN	N	10	ENSP00000384200:K10N	ENSP00000384200:K10N	K	+	3	2	PRKG1	52421174	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.228000	0.78079	2.349000	0.79799	0.462000	0.41574	AAG	.		0.577	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRPF4	9128	broad.mit.edu;bcgsc.ca	37	9	116045492	116045492	+	Splice_Site	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr9:116045492G>T	ENST00000374198.4	+	5	665		c.e5+1		PRPF4_ENST00000374199.4_Splice_Site	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CGTTGCCCAGGTAAAGAGAGC	0.398																																					.		.											.	PRPF4	93	0			c.563+1G>T						.						156.0	158.0	158.0					9																	116045492		2203	4300	6503	SO:0001630	splice_region_variant	9128	exon5			GCCCAGGTAAAGA	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.563+1G>T	9.37:g.116045492G>T		141.0	0.0		131.0	7.0	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Splice_Site	SNP	ENST00000374198.4	37	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608472	0.87258	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3641	0.90385	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF4	115085313	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.271000	0.78506	2.676000	0.91093	0.563000	0.77884	.	.		0.398	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	Intron
PRRT1	80863	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	PRRT1	153	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	6.37: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	37	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	
PTPN13	5783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000427191.2_Missense_Mutation_p.A1961T|PTPN13_ENST00000436978.1_Missense_Mutation_p.A1985T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1789T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1985T			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		.											.	PTPN13	230	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	4.37: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	37	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		
PTPRB	5787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000451516.2_Silent_p.A6A|PTPRB_ENST00000551525.1_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000550857.1_Silent_p.A6A|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Silent_p.A6A|PTPRB_ENST00000538174.2_Intron	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		.											.	PTPRB	226	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	12.37:g.71003577G>A		74.0	0.0		93.0	27.0	NM_001206972	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																			.		0.647	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
RANBP3L	202151	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	RANBP3L	91	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	5.37:g.36253830C>A	ENSP00000296604:p.Lys362Asn	109.0	0.0		137.0	37.0	NM_001161429	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	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	
RPE65	6121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	RPE65	91	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	1.37:g.68897225G>A	ENSP00000262340:p.Ala391Val	80.0	0.0		89.0	29.0	NM_000329	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	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	
RPH3A	22895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000415485.3_Missense_Mutation_p.N85I|RPH3A_ENST00000551052.1_Missense_Mutation_p.N81I|RPH3A_ENST00000447659.2_Missense_Mutation_p.N36I|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		.											.	RPH3A	519	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	12.37:g.113303242A>T	ENSP00000374036:p.Asn85Ile	90.0	0.0		88.0	18.0	NM_001143854	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	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	
SCIN	85477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	SCIN	24	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	7.37:g.12610490G>A		87.0	0.0		69.0	15.0	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	ENST00000297029.5	37	CCDS47545.1																																																																																			.		0.672	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
SLC12A1	6557	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	48500235	48500235	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:48500235G>A	ENST00000558405.1	+	1	333	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SLC12A1_ENST00000561031.1_Missense_Mutation_p.D107N|SLC12A1_ENST00000396577.3_Missense_Mutation_p.D107N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D107N|SLC12A1_ENST00000330289.6_Missense_Mutation_p.D107N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	107					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CAACACCATGGATGCCGTTCC	0.478																																					p.D107N		.											.	SLC12A1	24	0			c.G319A						.						126.0	117.0	120.0					15																	48500235		2198	4297	6495	SO:0001583	missense	6557	exon2			ACCATGGATGCCG		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.319G>A	15.37:g.48500235G>A	ENSP00000453409:p.Asp107Asn	91.0	1.0		99.0	37.0	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	34	5.404418	0.96051	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99663	-6.33;-6.33;-6.33	5.58	5.58	0.84498	Amino acid permease, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	D	0.98287	1.0511	10	0.87932	D	0	.	19.5825	0.95473	0.0:0.0:1.0:0.0	.	107;107	Q8IUN5;Q13621	.;S12A1_HUMAN	N	107	ENSP00000370381:D107N;ENSP00000379822:D107N;ENSP00000331550:D107N	ENSP00000331550:D107N	D	+	1	0	SLC12A1	46287527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	GAT	.		0.478	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SEMA7A	8482	hgsc.bcm.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	74703983	74703983	+	Silent	SNP	G	G	A	rs150179930	byFrequency	TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr15:74703983G>A	ENST00000261918.4	-	12	2039	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	SEMA7A_ENST00000542748.1_Silent_p.G332G|SEMA7A_ENST00000543145.2_Silent_p.G483G	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	497					axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGCAGCCCCCGCCATAGACCT	0.647													G|||	25	0.00499201	0.0182	0.0014	5008	,	,		17739	0.0		0.0	False		,,,				2504	0.0				p.G497G		.											.	SEMA7A	153	0			c.C1491T						.	G	,,	94,4300	74.7+/-112.8	1,92,2104	41.0	44.0	43.0		1449,996,1491	-9.0	0.0	15	dbSNP_134	43	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	1,93,6399	AA,AG,GG		0.0116,2.1393,0.7316	,,	483/653,332/502,497/667	74703983	95,12891	2197	4296	6493	SO:0001819	synonymous_variant	8482	exon12			GCCCCCGCCATAG	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1491C>T	15.37:g.74703983G>A		28.0	0.0		72.0	21.0	NM_003612	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	CCDS10262.1																																																																																			G|0.994;A|0.006		0.647	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612	
SLC27A6	28965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000506176.1_Missense_Mutation_p.Y512F|SLC27A6_ENST00000395266.1_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		.											.	SLC27A6	90	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	5.37:g.128364118A>T	ENSP00000262462:p.Tyr512Phe	67.0	0.0		70.0	17.0	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	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	
SLC29A1	2030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.V122V|SLC29A1_ENST00000371708.1_Silent_p.V122V|SLC29A1_ENST00000371740.5_Silent_p.V122V|SLC29A1_ENST00000371713.1_Silent_p.V122V|SLC29A1_ENST00000313248.7_Silent_p.V201V|SLC29A1_ENST00000371755.3_Silent_p.V122V|SLC29A1_ENST00000371731.1_Silent_p.V122V|SLC29A1_ENST00000371724.1_Silent_p.V122V|SLC29A1_ENST00000427851.2_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		.											.	SLC29A1	154	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	6.37:g.44197695G>T		57.0	0.0		68.0	23.0	NM_004955	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	CCDS4908.1																																																																																			.		0.582	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		
SLC5A11	115584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000568579.1_Missense_Mutation_p.T465P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T500P|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T500P|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T465P|SLC5A11_ENST00000569071.1_Missense_Mutation_p.T379P|SLC5A11_ENST00000539472.1_Missense_Mutation_p.T471P|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		.											.	SLC5A11	92	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	16.37:g.24920370A>C	ENSP00000289932:p.Thr535Pro	102.0	0.0		109.0	10.0	NM_052944		Missense_Mutation	SNP	ENST00000347898.3	37	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	
SLITRK1	114798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	SLITRK1	94	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	13.37:g.84454719A>T		125.0	0.0		83.0	42.0	NM_052910	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																			.		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLTM	79811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	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		.											.	SLTM	91	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	15.37: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	37	CCDS10168.2																																																																																			.		0.443	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
MTCL1	23255	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr18:8784213G>A	ENST00000306285.7	+	0	1245				SOGA2_ENST00000306329.11_Missense_Mutation_p.R728H|SOGA2_ENST00000517570.1_Missense_Mutation_p.R368H|SOGA2_ENST00000400050.3_Missense_Mutation_p.R368H|SOGA2_ENST00000359865.3_Missense_Mutation_p.R368H																							AACATCCAGCGCTGCGACCTG	0.652																																					p.R368H		.											.	.	.	0			c.G1103A						.						30.0	34.0	33.0					18																	8784213		2203	4298	6501			23255	exon6			TCCAGCGCTGCGA																												ENST00000306285.7:c.-953G>A	18.37:g.8784213G>A		34.0	0.0		58.0	14.0	NM_015210		Missense_Mutation	SNP	ENST00000306285.7	37		.	.	.	.	.	.	.	.	.	.	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			
SP4	6671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	SP4	95	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	7.37:g.21521737T>C		135.0	0.0		156.0	53.0	NM_003112	O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	CCDS5373.1																																																																																			.		0.348	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
SPATA31A6	389730	broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	43625397	43625397	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr9:43625397C>T	ENST00000332857.6	-	4	3318	c.3290G>A	c.(3289-3291)aGg>aAg	p.R1097K	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1097					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAACATTGGCCTTTGGCTCTT	0.493																																					p.R1097K		.											.	.	.	0			c.G3290A						.						3.0	3.0	3.0					9																	43625397		475	1291	1766	SO:0001583	missense	389730	exon4			ATTGGCCTTTGGC		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3290G>A	9.37:g.43625397C>T	ENSP00000329825:p.Arg1097Lys	216.0	1.0		251.0	70.0	NM_001145196		Missense_Mutation	SNP	ENST00000332857.6	37	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158125	0.01686	.	.	ENSG00000185775	ENST00000332857	T	0.03386	3.95	2.31	1.32	0.21799	.	1.795670	0.02808	N	0.123987	T	0.02610	0.0079	N	0.12746	0.255	0.09310	N	1	B	0.20261	0.043	B	0.25614	0.062	T	0.41928	-0.9481	10	0.07325	T	0.83	.	5.9459	0.19219	0.3284:0.6716:0.0:0.0	.	1097	Q5VVP1	F75A6_HUMAN	K	1097	ENSP00000329825:R1097K	ENSP00000329825:R1097K	R	-	2	0	FAM75A6	43565393	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.119000	0.15626	0.485000	0.27652	0.121000	0.15741	AGG	.		0.493	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196	
SPCS2	9789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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	SPCS2_ENST00000528265.1_Splice_Site|SPCS2_ENST00000526361.1_5'UTR|XRRA1_ENST00000340360.6_5'Flank|XRRA1_ENST00000533598.1_5'Flank|SPCS2_ENST00000530257.1_Missense_Mutation_p.G21D|XRRA1_ENST00000321448.8_5'Flank|XRRA1_ENST00000527087.1_5'Flank	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		.											.	SPCS2	113	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	11.37: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	37	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	
ST18	9705	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	ST18	95	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	8.37:g.53084937C>A	ENSP00000276480:p.Asp162Tyr	117.0	0.0		150.0	42.0	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	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|0.999;T|0.000		0.388	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
TBXAS1	6916	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	139653169	139653169	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:139653169G>T	ENST00000336425.5	+	10	842	c.453G>T	c.(451-453)atG>atT	p.M151I	TBXAS1_ENST00000436047.2_Missense_Mutation_p.M152I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.M198I|TBXAS1_ENST00000263552.6_Missense_Mutation_p.M152I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.M151I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.M197I|TBXAS1_ENST00000448866.1_Missense_Mutation_p.M151I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.M152I|TBXAS1_ENST00000425687.1_Missense_Mutation_p.M84I|TBXAS1_ENST00000462275.1_3'UTR			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	151					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ATTATCAGATGGTTCCCCTCA	0.478																																					p.M198I		.											.	TBXAS1	155	0			c.G594T						.						124.0	112.0	116.0					7																	139653169		2203	4300	6503	SO:0001583	missense	6916	exon7			TCAGATGGTTCCC	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.453G>T	7.37:g.139653169G>T	ENSP00000338087:p.Met151Ile	47.0	0.0		52.0	5.0	NM_001166253	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		.	.	.	.	.	.	.	.	.	.	G	11.29	1.594453	0.28445	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.91	3.11	0.35812	.	0.150651	0.64402	D	0.000001	T	0.69726	0.3143	M	0.77103	2.36	0.80722	D	1	P;P;B;P;B;B;B	0.45768	0.73;0.735;0.349;0.866;0.44;0.224;0.224	P;B;B;B;P;B;B	0.45712	0.491;0.389;0.122;0.351;0.48;0.122;0.122	T	0.72714	-0.4210	10	0.87932	D	0	.	11.0606	0.47944	0.1524:0.0:0.8475:0.0	.	132;198;103;84;152;152;151	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	I	84;152;151;198;152;152;151;197;151	ENSP00000388736:M84I;ENSP00000263552:M152I;ENSP00000338087:M151I;ENSP00000389414:M198I;ENSP00000392361:M152I;ENSP00000392702:M152I;ENSP00000402536:M151I;ENSP00000411274:M197I;ENSP00000411326:M151I	ENSP00000263552:M152I	M	+	3	0	TBXAS1	139299638	1.000000	0.71417	0.596000	0.28811	0.107000	0.19398	6.258000	0.72487	0.673000	0.31224	-0.140000	0.14226	ATG	.		0.478	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
TDRD1	56165	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000369282.1_Missense_Mutation_p.L1046P|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932P|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650P|TDRD1_ENST00000251864.2_Missense_Mutation_p.L1046P			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		.											.	TDRD1	90	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	10.37: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	37		.	.	.	.	.	.	.	.	.	.	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		
TKTL1	8277	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	153556013	153556013	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chrX:153556013C>T	ENST00000369915.3	+	11	1667	c.1478C>T	c.(1477-1479)gCt>gTt	p.A493V	TKTL1_ENST00000217905.7_Missense_Mutation_p.A233V|TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000369912.2_Missense_Mutation_p.A437V	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	493					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTAGCAGCTGCTGATGAGCTT	0.493																																					p.A493V		.											.	TKTL1	134	0			c.C1478T						.						150.0	123.0	132.0					X																	153556013		2203	4300	6503	SO:0001583	missense	8277	exon11			CAGCTGCTGATGA	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1478C>T	X.37:g.153556013C>T	ENSP00000358931:p.Ala493Val	205.0	1.0		214.0	62.0	NM_012253	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019243	0.75275	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.94576	-3.46;-3.46;-3.46	4.66	3.8	0.43715	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.112131	0.64402	D	0.000014	D	0.97393	0.9147	M	0.91612	3.225	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.994	D	0.97286	0.9921	10	0.72032	D	0.01	-23.0786	10.865	0.46849	0.0:0.9039:0.0:0.0961	.	233;487;493	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	V	493;454;233;437	ENSP00000358931:A493V;ENSP00000217905:A233V;ENSP00000358928:A437V	ENSP00000217905:A233V	A	+	2	0	TKTL1	153209207	0.998000	0.40836	0.054000	0.19295	0.887000	0.51463	3.913000	0.56394	0.970000	0.38263	0.436000	0.28706	GCT	.		0.493	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
TM9SF3	56889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	TM9SF3	90	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	10.37: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	37	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	
TPTE	7179	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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_ENST00000342420.5_Missense_Mutation_p.A11E|TPTE_ENST00000415664.2_5'UTR|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		.											.	TPTE	344	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	21.37: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	37	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		
AC005013.5	0	broad.mit.edu;mdanderson.org	37	7	28995704	28995704	+	lincRNA	SNP	C	C	T			TCGA-DD-A73F-01A-11D-A32G-10	TCGA-DD-A73F-10A-01D-A32G-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	26191956-5876-4a9c-94ba-68e53766fb9b	58d96a98-3030-4b89-b405-adb2c0cd8f7a	g.chr7:28995704C>T	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							AGGGGGTGTCCCCGCGCAGCT	0.701																																					.		.											.	.	.	0			.						.						4.0	5.0	5.0					7																	28995704		1911	3962	5873			9865	.			GGTGTCCCCGCGC																													7.37:g.28995704C>T		11.0	0.0		15.0	4.0	.		RNA	SNP	ENST00000436594.1	37																																																																																				.		0.701	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3		
UNC80	285175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	UNC80	90	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	2.37: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	37	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	
USP1	7398	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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)	.											.	USP1	659	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	1.37: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	37	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	
ZC3HAV1	56829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	ZC3HAV1	91	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	7.37:g.138761070C>T		90.0	0.0		95.0	34.0	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	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	
ZER1	10444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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		.											.	ZER1	91	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	9.37:g.131515868C>T		40.0	0.0		36.0	10.0	NM_006336	O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	CCDS6910.1																																																																																			.		0.612	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336	
ZFYVE27	118813	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	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	Phase_I	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_ENST00000453958.2_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000357540.4_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000359980.3_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000356257.4_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000370613.3_Start_Codon_SNP_p.M1T|ZFYVE27_ENST00000337540.7_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		.											.	ZFYVE27	91	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	10.37: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	37	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
ZNF607	84775	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	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	Phase_I	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	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.E417E	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		.											.	ZNF607	90	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	19.37:g.38189778C>T		67.0	0.0		70.0	26.0	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	CCDS33006.1																																																																																			.		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
