#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CCDC27	148870	hgsc.bcm.edu	37	1	3669193	3669193	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:3669193G>A	ENST00000294600.2	+	1	232	c.148G>A	c.(148-150)Gcc>Acc	p.A50T		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	50										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCTAAGGAGGCCAGCCCATC	0.602																																					p.A50T		Atlas-SNP	.											.	CCDC27	79	.	0			c.G148A						.						142.0	119.0	127.0					1																	3669193		2203	4300	6503	SO:0001583	missense	148870	exon1			AAGGAGGCCAGCC		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.148G>A	chr1.hg19:g.3669193G>A	ENSP00000294600:p.Ala50Thr	182.0	0.0		111.0	19.0	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	hg19	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	8.945	0.966813	0.18659	.	.	ENSG00000162592	ENST00000294600	T	0.18810	2.19	3.95	-4.29	0.03721	.	2.345970	0.01967	N	0.043767	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.18304	-1.0341	10	0.49607	T	0.09	-1.5701	1.7556	0.02981	0.4643:0.1403:0.2525:0.1428	.	50	Q2M243	CCD27_HUMAN	T	50	ENSP00000294600:A50T	ENSP00000294600:A50T	A	+	1	0	CCDC27	3659053	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.140000	0.10342	-0.943000	0.03691	0.650000	0.86243	GCC	.	.		0.602	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
AJAP1	55966	hgsc.bcm.edu	37	1	4772364	4772364	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:4772364C>A	ENST00000378191.4	+	2	815	c.434C>A	c.(433-435)gCc>gAc	p.A145D	AJAP1_ENST00000378190.3_Missense_Mutation_p.A145D	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	145					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GCCGGTGGGGCCCCGGAGCAG	0.697																																					p.A145D		Atlas-SNP	.											.	AJAP1	68	.	0			c.C434A						.						6.0	7.0	7.0					1																	4772364		2080	4125	6205	SO:0001583	missense	55966	exon2			GTGGGGCCCCGGA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.434C>A	chr1.hg19:g.4772364C>A	ENSP00000367433:p.Ala145Asp	134.0	0.0		64.0	29.0	NM_018836	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	7.916	0.737537	0.15574	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.49432	0.78;0.78	5.37	1.04	0.20106	.	1.811680	0.02513	N	0.091777	T	0.31263	0.0791	N	0.14661	0.345	0.09310	N	1	P	0.36535	0.557	B	0.30179	0.112	T	0.34179	-0.9839	10	0.56958	D	0.05	-2.9129	8.7351	0.34523	0.0:0.3558:0.5495:0.0947	.	145	Q9UKB5	AJAP1_HUMAN	D	145	ENSP00000367432:A145D;ENSP00000367433:A145D	ENSP00000367432:A145D	A	+	2	0	AJAP1	4672224	0.054000	0.20591	0.002000	0.10522	0.072000	0.16883	1.577000	0.36515	0.211000	0.20683	0.563000	0.77884	GCC	.	.		0.697	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	
KAZN	23254	hgsc.bcm.edu	37	1	15441094	15441094	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:15441094T>A	ENST00000376030.2	+	15	2585	c.2291T>A	c.(2290-2292)cTg>cAg	p.L764Q	TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	764					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAGTGCCGTCTGGAAGGCTAC	0.547																																					p.L764Q		Atlas-SNP	.											.	KAZN	57	.	0			c.T2291A						.						45.0	37.0	39.0					1																	15441094		2203	4300	6503	SO:0001583	missense	23254	exon15			GCCGTCTGGAAGG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2291T>A	chr1.hg19:g.15441094T>A	ENSP00000365198:p.Leu764Gln	252.0	0.0		168.0	41.0	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	hg19	CCDS152.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012698	0.75161	.	.	ENSG00000189337	ENST00000376030	T	0.20463	2.07	5.41	5.41	0.78517	.	0.000000	0.39083	N	0.001477	T	0.29850	0.0746	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.08086	-1.0739	10	0.59425	D	0.04	-17.6005	11.8245	0.52259	0.0:0.0:0.0:1.0	.	764	Q674X7	KAZRN_HUMAN	Q	764	ENSP00000365198:L764Q	ENSP00000365198:L764Q	L	+	2	0	KAZN	15313681	0.983000	0.35010	0.997000	0.53966	0.994000	0.84299	2.402000	0.44521	2.037000	0.60232	0.533000	0.62120	CTG	.	.		0.547	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
PDIK1L	149420	hgsc.bcm.edu	37	1	26448455	26448455	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:26448455G>C	ENST00000374271.4	+	4	700	c.413G>C	c.(412-414)cGt>cCt	p.R138P	PDIK1L_ENST00000374269.1_Missense_Mutation_p.R138P	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCAATCGTAAAACTAAC	0.438																																					p.R138P		Atlas-SNP	.											.	PDIK1L	19	.	0			c.G413C						.						114.0	116.0	115.0					1																	26448455		2203	4300	6503	SO:0001583	missense	149420	exon3			CCAATCGTAAAAC	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.413G>C	chr1.hg19:g.26448455G>C	ENSP00000363389:p.Arg138Pro	114.0	0.0		95.0	4.0	NM_001243532	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	hg19	CCDS274.1	.	.	.	.	.	.	.	.	.	.	G	5.975	0.363901	0.11296	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.21031	2.03;2.03;2.03	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	N	0.04018	-0.295	0.42200	D	0.991765	B	0.09022	0.002	B	0.14023	0.01	T	0.25117	-1.0141	10	0.15952	T	0.53	-14.6606	20.0112	0.97449	0.0:0.0:1.0:0.0	.	138	Q8N165	PDK1L_HUMAN	P	138	ENSP00000406510:R138P;ENSP00000363389:R138P;ENSP00000363387:R138P	ENSP00000363387:R138P	R	+	2	0	PDIK1L	26321042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.816000	0.75247	2.826000	0.97356	0.655000	0.94253	CGT	.	.		0.438	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835	
CCDC23	374969	hgsc.bcm.edu	37	1	43273173	43273173	+	Splice_Site	SNP	T	T	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:43273173T>G	ENST00000372521.4	-	3	213		c.e3-2		CCDC23_ENST00000372522.1_Splice_Site|CCDC23_ENST00000537227.1_Splice_Site	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23						negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein ubiquitination (GO:0031397)|protein secretion (GO:0009306)	apical part of cell (GO:0045177)				large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCATAGATCTGAATGAGAGA	0.463																																					.		Atlas-SNP	.											.	CCDC23	3	.	0			c.115-2A>C						.						114.0	112.0	113.0					1																	43273173		2203	4300	6503	SO:0001630	splice_region_variant	374969	exon4			TAGATCTGAATGA	AL512353, CAH72714	CCDS474.1	1p34.2	2008-02-05			ENSG00000177868	ENSG00000177868			29204	protein-coding gene	gene with protein product							Standard	NM_199342		Approved	MGC45441	uc001cib.2	Q8N300	OTTHUMG00000007566	ENST00000372521.4:c.115-2A>C	chr1.hg19:g.43273173T>G		58.0	0.0		26.0	7.0	NM_199342	A8K5P1|D3DPW7	Splice_Site	SNP	ENST00000372521.4	hg19	CCDS474.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033051	0.75504	.	.	ENSG00000177868	ENST00000372522;ENST00000372521;ENST00000537227	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6933	0.56988	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC23	43045760	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	5.674000	0.68117	2.239000	0.73571	0.533000	0.62120	.	.	.		0.463	CCDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019997.1	NM_199342	Intron
SLC1A7	6512	hgsc.bcm.edu	37	1	53571448	53571448	+	Splice_Site	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:53571448T>C	ENST00000371494.4	-	4	559		c.e4-2			NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7						dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		AACATGTTCCTAGGAAGAGAA	0.572																																					.	NSCLC(128;80 1811 21245 38490 51715)	Atlas-SNP	.											.	SLC1A7	65	.	0			c.432-2A>G						.						145.0	135.0	139.0					1																	53571448		2203	4300	6503	SO:0001630	splice_region_variant	6512	exon5			TGTTCCTAGGAAG	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.432-2A>G	chr1.hg19:g.53571448T>C		149.0	0.0		85.0	17.0	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Splice_Site	SNP	ENST00000371494.4	hg19	CCDS574.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397287	0.62177	.	.	ENSG00000162383	ENST00000371494	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8011	0.63202	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC1A7	53344036	1.000000	0.71417	0.890000	0.34922	0.721000	0.41392	7.570000	0.82390	1.649000	0.50652	0.329000	0.21502	.	.	.		0.572	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	Intron
SGIP1	84251	hgsc.bcm.edu	37	1	67148034	67148034	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:67148034G>A	ENST00000371037.4	+	15	1374	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	SGIP1_ENST00000237247.6_Missense_Mutation_p.G437S|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	433	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTCGGGCCCTGGTCCGGGGAC	0.592																																					p.G433S		Atlas-SNP	.											.	SGIP1	272	.	0			c.G1297A						.						106.0	123.0	117.0					1																	67148034		2195	4281	6476	SO:0001583	missense	84251	exon15			GGCCCTGGTCCGG	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1297G>A	chr1.hg19:g.67148034G>A	ENSP00000360076:p.Gly433Ser	189.0	0.0		192.0	40.0	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	hg19	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205537	0.39003	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03468	3.92;4.13	5.39	5.39	0.77823	.	0.266825	0.43416	D	0.000579	T	0.06050	0.0157	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.986	T	0.56226	-0.8014	10	0.13470	T	0.59	-9.9881	18.7507	0.91814	0.0:0.0:1.0:0.0	.	436;433	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	S	437;436;436;433	ENSP00000237247:G437S;ENSP00000360076:G433S	ENSP00000237247:G437S	G	+	1	0	SGIP1	66920622	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.442000	0.66575	2.523000	0.85059	0.455000	0.32223	GGT	.	.		0.592	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
COL24A1	255631	hgsc.bcm.edu	37	1	86591328	86591328	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:86591328A>G	ENST00000370571.2	-	3	1057	c.691T>C	c.(691-693)Tct>Cct	p.S231P	COL24A1_ENST00000436319.1_Missense_Mutation_p.S231P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	231					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGTCTGCAGATGCTTCTGCA	0.358																																					p.S231P		Atlas-SNP	.											.	COL24A1	202	.	0			c.T691C						.						60.0	59.0	59.0					1																	86591328		1959	4154	6113	SO:0001583	missense	255631	exon3			CTGCAGATGCTTC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.691T>C	chr1.hg19:g.86591328A>G	ENSP00000359603:p.Ser231Pro	58.0	0.0		52.0	15.0	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	hg19	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965204	0.34659	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02103	4.45;4.45	5.82	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);	0.193385	0.25830	N	0.028037	T	0.03136	0.0092	L	0.38175	1.15	0.46044	D	0.998839	D;D	0.71674	0.996;0.998	D;P	0.65010	0.931;0.855	T	0.50996	-0.8761	10	0.72032	D	0.01	.	12.3364	0.55069	0.8587:0.1413:0.0:0.0	.	231;231	F8WDM8;Q17RW2	.;COOA1_HUMAN	P	231	ENSP00000359603:S231P;ENSP00000392531:S231P	ENSP00000359603:S231P	S	-	1	0	COL24A1	86363916	0.998000	0.40836	0.984000	0.44739	0.680000	0.39746	3.653000	0.54446	0.990000	0.38787	0.533000	0.62120	TCT	.	.		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
FLG2	388698	hgsc.bcm.edu	37	1	152324873	152324873	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:152324873C>A	ENST00000388718.5	-	3	5461	c.5389G>T	c.(5389-5391)Gga>Tga	p.G1797*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1797					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTCTTCCAGTGGTCCTG	0.547																																					p.G1797X		Atlas-SNP	.											.	FLG2	431	.	0			c.G5389T						.						279.0	243.0	255.0					1																	152324873		2203	4300	6503	SO:0001587	stop_gained	388698	exon3			TTCTTCCAGTGGT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5389G>T	chr1.hg19:g.152324873C>A	ENSP00000373370:p.Gly1797*	86.0	0.0		145.0	13.0	NM_001014342	Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	42	9.362916	0.99148	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.65	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.6427	0.08173	0.0:0.4153:0.2997:0.2849	.	.	.	.	X	1797	.	ENSP00000373370:G1797X	G	-	1	0	FLG2	150591497	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-3.269000	0.00532	0.352000	0.24053	0.297000	0.19635	GGA	.	.		0.547	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
KIAA0907	22889	hgsc.bcm.edu	37	1	155887335	155887335	+	Silent	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:155887335T>C	ENST00000368321.3	-	11	1418	c.1395A>G	c.(1393-1395)acA>acG	p.T465T	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Silent_p.T465T	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	465							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTAGCTCCTCTGTGAATCGTC	0.527																																					p.T465T		Atlas-SNP	.											.	KIAA0907	58	.	0			c.A1395G						.						129.0	141.0	137.0					1																	155887335		2203	4300	6503	SO:0001819	synonymous_variant	22889	exon11			CTCCTCTGTGAAT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1395A>G	chr1.hg19:g.155887335T>C		125.0	0.0		142.0	15.0	NM_014949	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	hg19	CCDS30885.1																																																																																			.	.		0.527	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
C1orf111	284680	hgsc.bcm.edu	37	1	162344031	162344031	+	Missense_Mutation	SNP	A	A	T	rs377620109		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:162344031A>T	ENST00000367935.5	-	3	672	c.593T>A	c.(592-594)cTc>cAc	p.L198H	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	198										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GTGGCTCTTGAGGAAGTCCAG	0.597																																					p.L198H		Atlas-SNP	.											.	C1orf111	26	.	0			c.T593A						.						120.0	119.0	120.0					1																	162344031		2203	4300	6503	SO:0001583	missense	284680	exon3			CTCTTGAGGAAGT	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.593T>A	chr1.hg19:g.162344031A>T	ENSP00000356912:p.Leu198His	104.0	0.0		162.0	13.0	NM_182581	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	hg19	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410537	0.62399	.	.	ENSG00000171722	ENST00000367935	T	0.32515	1.45	5.14	5.14	0.70334	.	0.128829	0.30949	N	0.008558	T	0.43964	0.1271	M	0.72118	2.19	0.29393	N	0.862517	D	0.89917	1.0	D	0.76575	0.988	T	0.53528	-0.8426	9	0.87932	D	0	-11.6173	12.3478	0.55130	1.0:0.0:0.0:0.0	.	198	Q5T0L3	CA111_HUMAN	H	198	ENSP00000356912:L198H	ENSP00000356912:L198H	L	-	2	0	C1orf111	160610655	0.951000	0.32395	0.992000	0.48379	0.658000	0.38924	5.564000	0.67359	1.939000	0.56221	0.533000	0.62120	CTC	.	.		0.597	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581	
DUSP27	92235	hgsc.bcm.edu	37	1	167096100	167096100	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:167096100G>A	ENST00000361200.2	+	6	1898	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	DUSP27_ENST00000443333.1_Missense_Mutation_p.E578K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E578K|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	578					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGCAGTAGGGGAGAAGAACCC	0.557																																					p.E578K		Atlas-SNP	.											.	DUSP27	235	.	0			c.G1732A						.						50.0	52.0	51.0					1																	167096100		2203	4300	6503	SO:0001583	missense	92235	exon5			GTAGGGGAGAAGA	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1732G>A	chr1.hg19:g.167096100G>A	ENSP00000354483:p.Glu578Lys	209.0	0.0		213.0	30.0	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	5.875	0.345614	0.11126	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03717	3.83;3.83;3.83	5.05	4.12	0.48240	.	1.757900	0.03021	N	0.150753	T	0.02083	0.0065	M	0.67953	2.075	0.09310	N	0.999999	P	0.35433	0.501	B	0.32980	0.156	T	0.45425	-0.9262	10	0.49607	T	0.09	-4.9355	4.8797	0.13674	0.1302:0.0:0.6635:0.2064	.	578	Q5VZP5	DUS27_HUMAN	K	578	ENSP00000354483:E578K;ENSP00000271385:E578K;ENSP00000404874:E578K	ENSP00000271385:E578K	E	+	1	0	DUSP27	165362724	0.305000	0.24481	0.050000	0.19076	0.180000	0.23129	2.660000	0.46749	1.092000	0.41356	0.643000	0.83706	GAG	.	.		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
DCAF6	55827	hgsc.bcm.edu	37	1	168032858	168032858	+	Splice_Site	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:168032858G>C	ENST00000312263.6	+	15	2231		c.e15-1		DCAF6_ENST00000367840.3_Splice_Site|DCAF6_ENST00000367843.3_Splice_Site|DCAF6_ENST00000432587.2_Splice_Site	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTCATATAGACGCTCTGCT	0.303																																					.		Atlas-SNP	.											.	DCAF6	99	.	0			c.2088-1G>C						.						22.0	21.0	22.0					1																	168032858		2199	4295	6494	SO:0001630	splice_region_variant	55827	exon16			CATATAGACGCTC	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2028-1G>C	chr1.hg19:g.168032858G>C		220.0	0.0		285.0	34.0	NM_018442	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Splice_Site	SNP	ENST00000312263.6	hg19	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388316	0.82902	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6926	0.96008	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF6	166299482	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.296000	0.96104	2.676000	0.91093	0.555000	0.69702	.	.	.		0.303	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	Intron
RABGAP1L	9910	hgsc.bcm.edu	37	1	174957817	174957817	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:174957817A>G	ENST00000367688.3	+	6	630	c.451A>G	c.(451-453)Agc>Ggc	p.S151G	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000489615.1_Missense_Mutation_p.S268G|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S275G|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S256G|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.S206G|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S276G	NM_001243764.1	NP_001230693.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	151										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TGACATTTTCAGCAAGGAGGG	0.433																																					p.S268G		Atlas-SNP	.											.	RABGAP1L	103	.	0			c.A802G						.																																			SO:0001583	missense	9910	exon8			ATTTTCAGCAAGG	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367688.3:c.451A>G	chr1.hg19:g.174957817A>G	ENSP00000356661:p.Ser151Gly	115.0	0.0		122.0	18.0	NM_001243765	B7ZAA4	Missense_Mutation	SNP	ENST00000367688.3	hg19	CCDS55662.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.446447	0.63178	.	.	ENSG00000152061	ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000392064;ENST00000367688	T;T;T	0.14766	2.48;2.7;2.7	5.83	5.83	0.93111	.	.	.	.	.	T	0.17323	0.0416	L	0.43152	1.355	0.40110	D	0.976474	B;B;B;B;B;B	0.33807	0.167;0.082;0.426;0.125;0.147;0.294	B;B;B;B;B;B	0.38378	0.053;0.058;0.209;0.098;0.209;0.272	T	0.02533	-1.1145	9	0.41790	T	0.15	.	16.2013	0.82084	1.0:0.0:0.0:0.0	.	151;206;268;275;276;154	B7ZAP0;F5H8L0;Q5R372-8;Q5R372-6;Q5R372-5;Q9Y6Y7	.;.;.;.;.;.	G	256;275;276;268;206;151	ENSP00000318603:S256G;ENSP00000356660:S275G;ENSP00000281844:S276G	ENSP00000318603:S256G	S	+	1	0	RABGAP1L	173224440	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.140000	0.71738	2.227000	0.72691	0.459000	0.35465	AGC	.	.		0.433	RABGAP1L-015	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084573.2	NM_001243765	
TNN	63923	hgsc.bcm.edu	37	1	175067608	175067608	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:175067608G>T	ENST00000239462.4	+	9	2109	c.1996G>T	c.(1996-1998)Gtg>Ttg	p.V666L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	666	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGAGGTTCCGGTGGGGAAGGA	0.617																																					p.V666L		Atlas-SNP	.											.	TNN	297	.	0			c.G1996T						.						102.0	95.0	97.0					1																	175067608		2203	4300	6503	SO:0001583	missense	63923	exon9			GTTCCGGTGGGGA	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1996G>T	chr1.hg19:g.175067608G>T	ENSP00000239462:p.Val666Leu	356.0	0.0		454.0	108.0	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903822	0.52333	.	.	ENSG00000120332	ENST00000239462	T	0.59083	0.29	5.14	5.14	0.70334	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	L	0.53729	1.69	0.41988	D	0.990834	P;D	0.89917	0.938;1.0	D;D	0.87578	0.921;0.998	T	0.67979	-0.5530	10	0.38643	T	0.18	.	12.7044	0.57051	0.0:0.0:0.8356:0.1644	.	666;666	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	666	ENSP00000239462:V666L	ENSP00000239462:V666L	V	+	1	0	TNN	173334231	1.000000	0.71417	0.686000	0.30086	0.075000	0.17131	4.444000	0.60001	2.551000	0.86045	0.460000	0.39030	GTG	.	.		0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
RASAL2	9462	hgsc.bcm.edu	37	1	178408576	178408576	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:178408576C>G	ENST00000462775.1	+	4	375	c.250C>G	c.(250-252)Cta>Gta	p.L84V	RASAL2_ENST00000367649.3_Missense_Mutation_p.L232V|RASAL2_ENST00000448150.3_Missense_Mutation_p.L214V	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	84	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTGCCTAAACTAAAAGAGTC	0.438																																					p.L232V		Atlas-SNP	.											.	RASAL2	334	.	0			c.C694G						.						122.0	106.0	112.0					1																	178408576		2203	4300	6503	SO:0001583	missense	9462	exon6			CCTAAACTAAAAG	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.250C>G	chr1.hg19:g.178408576C>G	ENSP00000420558:p.Leu84Val	50.0	0.0		105.0	23.0	NM_170692	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	hg19	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877248	0.72294	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.22539	1.95;1.95;1.96	6.16	4.32	0.51571	Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000001	T	0.46502	0.1396	M	0.78801	2.425	0.80722	D	1	B;D	0.67145	0.32;0.996	B;D	0.75484	0.288;0.986	T	0.48725	-0.9010	10	0.72032	D	0.01	.	12.8514	0.57860	0.0:0.8696:0.0:0.1304	.	84;232	Q9UJF2;F8W755	NGAP_HUMAN;.	V	214;232;84	ENSP00000407768:L214V;ENSP00000356621:L232V;ENSP00000420558:L84V	ENSP00000356621:L232V	L	+	1	2	RASAL2	176675199	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	2.998000	0.49465	0.948000	0.37687	0.650000	0.86243	CTA	.	.		0.438	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
TDRD5	163589	hgsc.bcm.edu	37	1	179561920	179561920	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:179561920T>C	ENST00000367614.1	+	2	529	c.170T>C	c.(169-171)gTa>gCa	p.V57A	TDRD5_ENST00000444136.1_Missense_Mutation_p.V57A|TDRD5_ENST00000294848.8_Missense_Mutation_p.V57A|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	57	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGGAGCTGGTATTGGACATG	0.463																																					p.V57A		Atlas-SNP	.											.	TDRD5	149	.	0			c.T170C						.						199.0	175.0	183.0					1																	179561920		2203	4300	6503	SO:0001583	missense	163589	exon2			AGCTGGTATTGGA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.170T>C	chr1.hg19:g.179561920T>C	ENSP00000356586:p.Val57Ala	119.0	0.0		156.0	19.0	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	hg19	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038282	0.75617	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.50813	0.73;0.73;0.73	5.91	4.77	0.60923	.	0.071561	0.56097	D	0.000040	T	0.60843	0.2300	L	0.50333	1.59	0.36331	D	0.85887	D;D	0.76494	0.999;0.999	D;D	0.74674	0.975;0.984	T	0.69079	-0.5240	10	0.72032	D	0.01	-5.2049	11.4906	0.50379	0.1346:0.0:0.0:0.8654	.	57;57	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	A	57	ENSP00000356586:V57A;ENSP00000294848:V57A;ENSP00000406052:V57A	ENSP00000294848:V57A	V	+	2	0	TDRD5	177828543	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	4.087000	0.57671	1.035000	0.39972	0.533000	0.62120	GTA	.	.		0.463	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
DHX9	1660	hgsc.bcm.edu	37	1	182850422	182850422	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:182850422T>C	ENST00000367549.3	+	23	2758	c.2648T>C	c.(2647-2649)aTt>aCt	p.I883T	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	883					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATCTGTACCATTGCTGCTGCT	0.453																																					p.I883T	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.T2648C						.						141.0	139.0	140.0					1																	182850422		2019	4172	6191	SO:0001583	missense	1660	exon23			GTACCATTGCTGC	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2648T>C	chr1.hg19:g.182850422T>C	ENSP00000356520:p.Ile883Thr	75.0	0.0		96.0	9.0	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247143	0.80024	.	.	ENSG00000135829	ENST00000367549	T	0.40476	1.03	5.76	5.76	0.90799	Helicase-associated domain (2);	0.054581	0.64402	D	0.000001	T	0.70745	0.3259	M	0.90977	3.165	0.58432	D	0.999995	D;P	0.55605	0.972;0.949	D;P	0.64410	0.925;0.83	T	0.78311	-0.2253	10	0.87932	D	0	.	15.765	0.78120	0.0:0.0:0.0:1.0	.	162;883	B3KU66;Q08211	.;DHX9_HUMAN	T	883	ENSP00000356520:I883T	ENSP00000356520:I883T	I	+	2	0	DHX9	181117045	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	5.682000	0.68182	2.186000	0.69663	0.533000	0.62120	ATT	.	.		0.453	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
PLXNA2	5362	hgsc.bcm.edu	37	1	208272269	208272269	+	Silent	SNP	T	T	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:208272269T>G	ENST00000367033.3	-	6	2410	c.1653A>C	c.(1651-1653)cgA>cgC	p.R551R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	551					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGCAGCAAATCGATTAGGTT	0.552																																					p.R551R		Atlas-SNP	.											.	PLXNA2	178	.	0			c.A1653C						.						103.0	79.0	87.0					1																	208272269		2203	4300	6503	SO:0001819	synonymous_variant	5362	exon6			AGCAAATCGATTA	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1653A>C	chr1.hg19:g.208272269T>G		66.0	0.0		116.0	12.0	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	hg19	CCDS31013.1																																																																																			.	.		0.552	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
RCOR3	55758	hgsc.bcm.edu	37	1	211462588	211462588	+	Silent	SNP	A	A	G	rs376624554		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:211462588A>G	ENST00000367005.4	+	7	756	c.615A>G	c.(613-615)caA>caG	p.Q205Q	RCOR3_ENST00000452621.2_Silent_p.Q263Q|RCOR3_ENST00000419091.2_Silent_p.Q263Q|RCOR3_ENST00000367006.4_Silent_p.Q263Q	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AGAGTTTACAACATCGCCATC	0.438																																					p.Q263Q		Atlas-SNP	.											.	RCOR3	51	.	0			c.A789G						.	A	,,,	0,4406		0,0,2203	180.0	152.0	161.0		789,789,789,615	-4.0	1.0	1		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RCOR3	NM_001136223.1,NM_001136224.2,NM_001136225.1,NM_018254.3	,,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,,	263/554,263/437,263/450,205/496	211462588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55758	exon8			TTTACAACATCGC	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.615A>G	chr1.hg19:g.211462588A>G		278.0	0.0		391.0	79.0	NM_001136223	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	hg19	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	9.800	1.180277	0.21787	0.0	1.16E-4	ENSG00000117625	ENST00000534460	.	.	.	5.84	-4.04	0.04010	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55515	-0.8129	4	.	.	.	-0.995	11.9324	0.52853	0.2498:0.0:0.6395:0.1107	.	.	.	.	A	50	.	.	T	+	1	0	RCOR3	209529211	0.999000	0.42202	0.963000	0.40424	0.996000	0.88848	0.532000	0.23067	-0.740000	0.04803	-0.250000	0.11733	ACA	.	.		0.438	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254	
RD3	343035	hgsc.bcm.edu	37	1	211652629	211652629	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:211652629C>T	ENST00000367002.4	-	3	1500	c.337G>A	c.(337-339)Gag>Aag	p.E113K	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	113					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TGGGACACCTCCTGCACCTCG	0.697																																					p.E113K		Atlas-SNP	.											.	RD3	26	.	0			c.G337A						.						13.0	13.0	13.0					1																	211652629		2195	4299	6494	SO:0001583	missense	343035	exon3			ACACCTCCTGCAC	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.337G>A	chr1.hg19:g.211652629C>T	ENSP00000355969:p.Glu113Lys	159.0	0.0		145.0	30.0	NM_183059	A8K595	Missense_Mutation	SNP	ENST00000367002.4	hg19	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898891	0.72754	.	.	ENSG00000198570	ENST00000367002	T	0.20069	2.1	4.09	3.17	0.36434	.	0.054029	0.64402	N	0.000001	T	0.36082	0.0954	M	0.81497	2.545	0.47153	D	0.999336	P	0.48503	0.911	P	0.50192	0.634	T	0.34576	-0.9823	10	0.62326	D	0.03	-29.2847	12.2834	0.54779	0.0:0.9158:0.0:0.0842	.	113	Q7Z3Z2	RD3_HUMAN	K	113	ENSP00000355969:E113K	ENSP00000355969:E113K	E	-	1	0	RD3	209719252	0.998000	0.40836	1.000000	0.80357	0.443000	0.32047	2.599000	0.46231	0.863000	0.35553	-0.232000	0.12228	GAG	.	.		0.697	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059	
DNAH14	127602	hgsc.bcm.edu	37	1	225190629	225190629	+	Intron	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:225190629G>A	ENST00000445597.2	+	8	1032				DNAH14_ENST00000400952.3_Splice_Site_p.K325K|DNAH14_ENST00000366849.1_Splice_Site_p.K302K|DNAH14_ENST00000430092.1_Splice_Site_p.K325K|DNAH14_ENST00000439375.2_Splice_Site_p.K325K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GCCTTGTAAAGGTGAGTAGAA	0.264																																					p.K325K		Atlas-SNP	.											.	DNAH14	300	.	0			c.G975A						.						64.0	52.0	56.0					1																	225190629		692	1584	2276	SO:0001627	intron_variant	127602	exon9			TGTAAAGGTGAGT	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1033-4486G>A	chr1.hg19:g.225190629G>A		55.0	0.0		156.0	20.0	NM_001373	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	ENST00000445597.2	hg19																																																																																				.	.		0.264	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
RYR2	6262	hgsc.bcm.edu	37	1	237919659	237919659	+	Missense_Mutation	SNP	G	G	T	rs397516502		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:237919659G>T	ENST00000366574.2	+	81	11534	c.11217G>T	c.(11215-11217)atG>atT	p.M3739I	RYR2_ENST00000542537.1_Missense_Mutation_p.M3723I|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.M3745I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3739					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGCTGAGATGGTGCTACAGA	0.488																																					p.M3739I		Atlas-SNP	.											.	RYR2	1273	.	0			c.G11217T						.						96.0	100.0	99.0					1																	237919659		1967	4168	6135	SO:0001583	missense	6262	exon81			TGAGATGGTGCTA	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11217G>T	chr1.hg19:g.237919659G>T	ENSP00000355533:p.Met3739Ile	43.0	0.0		72.0	6.0	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557498	0.45590	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.89810	-2.57;-2.57;-2.57	5.44	5.44	0.79542	.	0.000000	0.85682	U	0.000000	D	0.94804	0.8322	M	0.83953	2.67	0.80722	D	1	D;D	0.67145	0.958;0.996	D;D	0.71184	0.943;0.972	D	0.95122	0.8247	10	0.87932	D	0	.	18.6247	0.91333	0.0:0.0:1.0:0.0	.	713;3739	B4DGV4;Q92736	.;RYR2_HUMAN	I	3739;3745;3723;713	ENSP00000355533:M3739I;ENSP00000353174:M3745I;ENSP00000443798:M3723I	ENSP00000353174:M3745I	M	+	3	0	RYR2	235986282	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.813000	0.99286	2.717000	0.92951	0.563000	0.77884	ATG	.	.		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
WDR64	128025	hgsc.bcm.edu	37	1	241958512	241958512	+	Nonsense_Mutation	SNP	C	C	T	rs201917329	byFrequency	TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:241958512C>T	ENST00000366552.2	+	25	3178	c.2971C>T	c.(2971-2973)Cga>Tga	p.R991*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.R824*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	991										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTTGCAGATTCGAAGATATCC	0.418													C|||	3	0.000599042	0.0	0.0043	5008	,	,		20193	0.0		0.0	False		,,,				2504	0.0				p.R991X		Atlas-SNP	.											WDR64_ENST00000366552,colon,carcinoma,0,4	WDR64	234	.	0			c.C2971T						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	175.0	169.0	171.0		2971	3.5	0.7	1		171	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	WDR64	NM_144625.4		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		991/1082	241958512	3,13003	2203	4300	6503	SO:0001587	stop_gained	128025	exon25			CAGATTCGAAGAT	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2971C>T	chr1.hg19:g.241958512C>T	ENSP00000355510:p.Arg991*	127.0	0.0		152.0	22.0	NM_144625	B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	ENST00000366552.2	hg19		.	.	.	.	.	.	.	.	.	.	C	41	8.655293	0.98901	2.27E-4	2.33E-4	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	.	.	.	5.62	3.55	0.40652	.	0.799060	0.11021	N	0.608373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.7728	10.5595	0.45138	0.493:0.5069:0.0:0.0	.	.	.	.	X	991;824;595	.	ENSP00000355510:R991X	R	+	1	2	WDR64	240025135	0.935000	0.31712	0.690000	0.30148	0.889000	0.51656	1.268000	0.33062	1.313000	0.45069	0.462000	0.41574	CGA	.	.		0.418	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
OR2W3	343171	hgsc.bcm.edu	37	1	248059059	248059059	+	Silent	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:248059059C>A	ENST00000360358.3	+	1	171	c.171C>A	c.(169-171)acC>acA	p.T57T	OR2W3_ENST00000537741.1_Silent_p.T57T	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTCCACACCCCCATGTACT	0.567																																					p.T57T		Atlas-SNP	.											.	OR2W3	113	.	0			c.C171A						.						207.0	174.0	185.0					1																	248059059		2203	4300	6503	SO:0001819	synonymous_variant	343171	exon1			CCACACCCCCATG	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.171C>A	chr1.hg19:g.248059059C>A		134.0	0.0		164.0	46.0	NM_001001957	Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	hg19	CCDS31099.1																																																																																			.	.		0.567	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957	
ALK	238	hgsc.bcm.edu	37	2	29551301	29551301	+	Silent	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:29551301A>G	ENST00000389048.3	-	6	2235	c.1329T>C	c.(1327-1329)tgT>tgC	p.C443C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	443	LDL-receptor class A.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCCCATTCCAACAAGTGAAGG	0.582			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.C443C		Atlas-SNP	.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	ALK	533	.	0			c.T1329C						.						80.0	72.0	75.0					2																	29551301		2203	4300	6503	SO:0001819	synonymous_variant	238	exon6	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	ATTCCAACAAGTG	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1329T>C	chr2.hg19:g.29551301A>G		182.0	0.0		222.0	21.0	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	hg19	CCDS33172.1																																																																																			.	.		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
PLEKHH2	130271	hgsc.bcm.edu	37	2	43953414	43953414	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:43953414C>T	ENST00000282406.4	+	17	2655	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	849	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTTTAGTTTCCTTTAGGTCA	0.333																																					p.P849S		Atlas-SNP	.											.	PLEKHH2	156	.	0			c.C2545T						.						58.0	56.0	57.0					2																	43953414		2203	4300	6503	SO:0001583	missense	130271	exon17			TAGTTTCCTTTAG	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2545C>T	chr2.hg19:g.43953414C>T	ENSP00000282406:p.Pro849Ser	168.0	0.0		187.0	38.0	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367725	0.82463	.	.	ENSG00000152527	ENST00000282406	T	0.26518	1.73	4.48	4.48	0.54585	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68138	-0.5488	10	0.66056	D	0.02	-18.0584	17.7963	0.88572	0.0:1.0:0.0:0.0	.	849;286	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	S	849	ENSP00000282406:P849S	ENSP00000282406:P849S	P	+	1	0	PLEKHH2	43806918	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.377000	0.79668	2.494000	0.84150	0.580000	0.79431	CCT	.	.		0.333	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DQX1	165545	hgsc.bcm.edu	37	2	74752293	74752293	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:74752293C>T	ENST00000404568.3	-	3	493	c.274G>A	c.(274-276)Ggg>Agg	p.G92R	DQX1_ENST00000393951.2_Missense_Mutation_p.G92R|DQX1_ENST00000495597.1_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	92	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					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						TTCTGGAACCCTCTGGCCAGC	0.562																																					p.G92R		Atlas-SNP	.											.	DQX1	95	.	0			c.G274A						.						44.0	44.0	44.0					2																	74752293		692	1591	2283	SO:0001583	missense	165545	exon3			GGAACCCTCTGGC	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	ENST00000404568.3:c.274G>A	chr2.hg19:g.74752293C>T	ENSP00000384621:p.Gly92Arg	150.0	0.0		138.0	6.0	NM_133637	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	hg19	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780608	0.31502	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.07327	3.2;3.2	5.16	5.16	0.70880	DEAD-like helicase (2);	.	.	.	.	T	0.05960	0.0155	N	0.21545	0.675	0.36229	D	0.852514	B	0.29612	0.251	B	0.26202	0.067	T	0.41466	-0.9507	9	0.17369	T	0.5	.	11.8575	0.52446	0.0:0.8241:0.1759:0.0	.	92	Q8TE96	DQX1_HUMAN	R	92	ENSP00000377523:G92R;ENSP00000384621:G92R	ENSP00000377523:G92R	G	-	1	0	DQX1	74605801	0.596000	0.26866	1.000000	0.80357	0.983000	0.72400	1.096000	0.30976	2.696000	0.92011	0.650000	0.86243	GGG	.	.		0.562	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
TMEM177	80775	hgsc.bcm.edu	37	2	120438742	120438742	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:120438742G>A	ENST00000424086.1	+	2	786	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	TMEM177_ENST00000401466.1_Missense_Mutation_p.G105S|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.G105S|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	105						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGCTGTGGTGGGCATCCCTGC	0.582																																					p.G105S		Atlas-SNP	.											.	TMEM177	26	.	0			c.G313A						.						163.0	175.0	171.0					2																	120438742		2203	4300	6503	SO:0001583	missense	80775	exon2			GTGGTGGGCATCC	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.313G>A	chr2.hg19:g.120438742G>A	ENSP00000402661:p.Gly105Ser	161.0	0.0		72.0	27.0	NM_030577	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	hg19	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930447	0.92389	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000415646	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75806	-0.3188	10	0.87932	D	0	-6.2826	15.0498	0.71858	0.0:0.0:1.0:0.0	.	105	Q53S58	TM177_HUMAN	S	105	ENSP00000385966:G105S;ENSP00000402661:G105S;ENSP00000272521:G105S;ENSP00000405898:G105S	ENSP00000272521:G105S	G	+	1	0	TMEM177	120155212	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	8.840000	0.92125	2.509000	0.84616	0.549000	0.68633	GGC	.	.		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577	
TTN	7273	hgsc.bcm.edu	37	2	179615916	179615916	+	Intron	SNP	A	A	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:179615916A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S3737R|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTTTATCACTAGCTTCAC	0.343																																					p.S3737R		Atlas-SNP	.											.	TTN	18412	.	0			c.T11211G						.						54.0	52.0	53.0					2																	179615916		2202	4295	6497	SO:0001627	intron_variant	7273	exon46			TTTATCACTAGCT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1934T>G	chr2.hg19:g.179615916A>C		75.0	0.0		102.0	21.0	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.22	2.471459	0.43942	.	.	ENSG00000155657	ENST00000360870	T	0.58060	0.36	5.77	1.96	0.26148	.	.	.	.	.	T	0.32704	0.0838	N	0.24115	0.695	0.09310	N	1	B	0.32526	0.374	B	0.29716	0.106	T	0.14476	-1.0471	9	0.22706	T	0.39	.	6.6757	0.23093	0.7316:0.1292:0.1392:0.0	.	3737	Q8WZ42-6	.	R	3737	ENSP00000354117:S3737R	ENSP00000354117:S3737R	S	-	3	2	TTN	179324161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.124000	0.10595	0.153000	0.19213	-0.290000	0.09829	AGT	.	.		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
BOLL	66037	hgsc.bcm.edu	37	2	198641827	198641827	+	Missense_Mutation	SNP	C	C	T	rs577424738	byFrequency	TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:198641827C>T	ENST00000392296.4	-	4	541	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	BOLL_ENST00000321801.7_Missense_Mutation_p.V90I|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000430004.1_Missense_Mutation_p.V78I|BOLL_ENST00000433157.1_Missense_Mutation_p.V78I	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TCAAAAGTGACGAAACCATAC	0.209													C|||	5	0.000998403	0.0	0.0	5008	,	,		14472	0.001		0.0	False		,,,				2504	0.0041				p.V90I		Atlas-SNP	.											BOLL_ENST00000321801,colon,carcinoma,0,6	BOLL	67	.	0			c.G268A						.						53.0	54.0	54.0					2																	198641827		2202	4289	6491	SO:0001583	missense	66037	exon4			AAGTGACGAAACC		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.232G>A	chr2.hg19:g.198641827C>T	ENSP00000376116:p.Val78Ile	507.0	0.0		389.0	90.0	NM_197970	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	hg19	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443393	0.25987	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.96	-4.8	0.03190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.532723	0.18574	N	0.137248	T	0.16514	0.0397	N	0.20807	0.61	0.50039	D	0.999843	B;B;B;B	0.30605	0.287;0.003;0.003;0.003	B;B;B;B	0.23716	0.048;0.009;0.016;0.018	T	0.00950	-1.1503	10	0.44086	T	0.13	-11.6757	15.2117	0.73230	0.0:0.288:0.0:0.712	.	84;90;78;84	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	I	78;78;90;78	ENSP00000397711:V78I;ENSP00000376116:V78I;ENSP00000314792:V90I;ENSP00000396099:V78I	ENSP00000314792:V90I	V	-	1	0	BOLL	198350072	0.000000	0.05858	0.065000	0.19835	0.983000	0.72400	-1.594000	0.02094	-0.931000	0.03746	-0.897000	0.02905	GTC	.	.		0.209	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030	
SGPP2	130367	hgsc.bcm.edu	37	2	223339386	223339386	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:223339386C>T	ENST00000321276.7	+	2	405	c.319C>T	c.(319-321)Cca>Tca	p.P107S		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	107					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CACGTTTCTTCCATTCACTCA	0.353																																					p.P107S		Atlas-SNP	.											.	SGPP2	39	.	0			c.C319T						.						139.0	131.0	134.0					2																	223339386		2202	4300	6502	SO:0001583	missense	130367	exon2			TTTCTTCCATTCA	AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.319C>T	chr2.hg19:g.223339386C>T	ENSP00000315137:p.Pro107Ser	122.0	0.0		77.0	21.0	NM_152386	A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	hg19	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222191	0.79464	.	.	ENSG00000163082	ENST00000321276	T	0.74632	-0.86	5.37	5.37	0.77165	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87097	0.2176	10	0.51188	T	0.08	-12.9899	19.0932	0.93238	0.0:1.0:0.0:0.0	.	107	Q8IWX5	SGPP2_HUMAN	S	107	ENSP00000315137:P107S	ENSP00000315137:P107S	P	+	1	0	SGPP2	223047630	1.000000	0.71417	0.984000	0.44739	0.831000	0.47069	6.010000	0.70753	2.505000	0.84491	0.561000	0.74099	CCA	.	.		0.353	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
ARPP21	10777	hgsc.bcm.edu	37	3	35778748	35778748	+	Missense_Mutation	SNP	T	T	C	rs566433210	byFrequency	TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:35778748T>C	ENST00000187397.4	+	16	1994	c.1538T>C	c.(1537-1539)aTg>aCg	p.M513T	ARPP21_ENST00000337271.5_Missense_Mutation_p.M459T|ARPP21_ENST00000458225.1_Missense_Mutation_p.M479T|ARPP21_ENST00000444190.1_Missense_Mutation_p.M459T|ARPP21_ENST00000417925.1_Missense_Mutation_p.M479T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	513	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGAAGCGCCATGGTGGGGCAG	0.622													T|||	2	0.000399361	0.0	0.0	5008	,	,		13856	0.0		0.0	False		,,,				2504	0.002				p.M513T		Atlas-SNP	.											.	ARPP21	153	.	0			c.T1538C						.						44.0	51.0	49.0					3																	35778748		2203	4300	6503	SO:0001583	missense	10777	exon16			GCGCCATGGTGGG	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1538T>C	chr3.hg19:g.35778748T>C	ENSP00000187397:p.Met513Thr	179.0	0.0		126.0	8.0	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	hg19	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429191	0.43122	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.91	5.91	0.95273	.	0.432629	0.27424	N	0.019428	T	0.39886	0.1095	L	0.57536	1.79	0.40029	D	0.975501	B;B;B;B	0.28820	0.008;0.027;0.224;0.008	B;B;B;B	0.24006	0.019;0.025;0.05;0.019	T	0.26608	-1.0098	10	0.17832	T	0.49	-1.8461	16.3512	0.83208	0.0:0.0:0.0:1.0	.	479;1;513;459	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	479;459;459;513;479	ENSP00000414351:M479T;ENSP00000337792:M459T;ENSP00000405276:M459T;ENSP00000187397:M513T;ENSP00000412326:M479T	ENSP00000187397:M513T	M	+	2	0	ARPP21	35753752	0.799000	0.28903	0.289000	0.24876	0.554000	0.35429	3.978000	0.56881	2.266000	0.75297	0.533000	0.62120	ATG	.	.		0.622	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
ACAA1	30	hgsc.bcm.edu	37	3	38178099	38178099	+	Silent	SNP	C	C	T	rs11552535		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:38178099C>T	ENST00000333167.8	-	2	421	c.249G>A	c.(247-249)ctG>ctA	p.L83L	MYD88_ENST00000396334.3_5'Flank|ACAA1_ENST00000450296.1_Silent_p.L83L|ACAA1_ENST00000444607.2_Silent_p.L83L|MYD88_ENST00000424893.1_5'Flank|MYD88_ENST00000443433.2_5'Flank|ACAA1_ENST00000301810.7_Silent_p.L83L|MYD88_ENST00000417037.2_5'Flank|MYD88_ENST00000495303.1_5'Flank|ACAA1_ENST00000544624.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	83					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGATGTCCCCCAGCTGTTCCG	0.632																																					p.L83L		Atlas-SNP	.											.	ACAA1	32	.	0			c.G249A						.						57.0	49.0	52.0					3																	38178099		2203	4300	6503	SO:0001819	synonymous_variant	30	exon2			GTCCCCCAGCTGT	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.249G>A	chr3.hg19:g.38178099C>T		247.0	0.0		130.0	31.0	NM_001130410	G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	hg19	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488967	0.26686	.	.	ENSG00000060971	ENST00000421218	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.322	17.9617	0.89087	0.0:1.0:0.0:0.0	rs11552535	.	.	.	X	6	.	.	W	-	2	0	ACAA1	38153103	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	1.344000	0.33941	2.230000	0.72887	0.655000	0.94253	TGG	.	.		0.632	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
KIF15	56992	hgsc.bcm.edu	37	3	44893334	44893334	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:44893334A>T	ENST00000326047.4	+	33	4011	c.3862A>T	c.(3862-3864)Act>Tct	p.T1288S	KIF15_ENST00000425755.1_Missense_Mutation_p.T923S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1288					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CCTTAGAATGACTGATGAAGT	0.373																																					p.T1288S		Atlas-SNP	.											.	KIF15	103	.	0			c.A3862T						.						152.0	156.0	155.0					3																	44893334		2203	4300	6503	SO:0001583	missense	56992	exon33			AGAATGACTGATG	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3862A>T	chr3.hg19:g.44893334A>T	ENSP00000324020:p.Thr1288Ser	183.0	0.0		186.0	8.0	NM_020242	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	hg19	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	3.998	-0.003051	0.07773	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.22336	1.96;1.96	5.68	-6.03	0.02185	.	0.955176	0.08653	N	0.913755	T	0.09202	0.0227	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42783	-0.9431	10	0.07990	T	0.79	.	7.7537	0.28911	0.4391:0.0:0.447:0.1139	.	1288	Q9NS87	KIF15_HUMAN	S	1288;923	ENSP00000324020:T1288S;ENSP00000389982:T923S	ENSP00000324020:T1288S	T	+	1	0	KIF15	44868338	0.004000	0.15560	0.001000	0.08648	0.213000	0.24496	0.013000	0.13310	-1.274000	0.02421	-0.375000	0.07067	ACT	.	.		0.373	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
BAP1	8314	hgsc.bcm.edu	37	3	52440899	52440899	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:52440899C>A	ENST00000460680.1	-	8	1076	c.605G>T	c.(604-606)tGg>tTg	p.W202L	BAP1_ENST00000296288.5_Missense_Mutation_p.W202L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTGTCTGTCCACTCCTCGTC	0.612			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.W202L	GBM(101;493 1458 7992 21037 25532)	Atlas-SNP	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	BAP1	371	.	0			c.G605T						.						51.0	41.0	44.0					3																	52440899		2198	4297	6495	SO:0001583	missense	8314	exon8			TCTGTCCACTCCT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.605G>T	chr3.hg19:g.52440899C>A	ENSP00000417132:p.Trp202Leu	134.0	0.0		46.0	29.0	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	hg19	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400744	0.96030	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.51817	0.69;0.69	6.04	6.04	0.98038	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78979	-0.1990	10	0.59425	D	0.04	-3.2529	20.1995	0.98256	0.0:1.0:0.0:0.0	.	202	Q92560	BAP1_HUMAN	L	202	ENSP00000417132:W202L;ENSP00000296288:W202L	ENSP00000296288:W202L	W	-	2	0	BAP1	52415939	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.876000	0.98609	0.650000	0.86243	TGG	.	.		0.612	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
FLNB	2317	hgsc.bcm.edu	37	3	57994371	57994371	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:57994371A>G	ENST00000295956.4	+	1	245	c.80A>G	c.(79-81)aAc>aGc	p.N27S	FLNB_ENST00000357272.4_Missense_Mutation_p.N27S|FLNB_ENST00000429972.2_Missense_Mutation_p.N27S|FLNB_ENST00000490882.1_Missense_Mutation_p.N27S|FLNB_ENST00000348383.5_Missense_Mutation_p.N27S|FLNB_ENST00000358537.3_Missense_Mutation_p.N27S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	27	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGCTGGTGCAACGAGCACCTC	0.617																																					p.N27S		Atlas-SNP	.											.	FLNB	430	.	0			c.A80G						.						100.0	84.0	89.0					3																	57994371		2203	4300	6503	SO:0001583	missense	2317	exon1			GGTGCAACGAGCA	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.80A>G	chr3.hg19:g.57994371A>G	ENSP00000295956:p.Asn27Ser	242.0	0.0		70.0	16.0	NM_001457	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	34	5.412446	0.96072	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.52	5.52	0.82312	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.997	D;D;D;D	0.70935	0.95;0.957;0.971;0.971	D	0.98968	1.0800	10	0.87932	D	0	.	15.3124	0.74045	1.0:0.0:0.0:0.0	.	27;27;27;27	O75369-2;B2ZZ83;Q60FE7;O75369	.;.;.;FLNB_HUMAN	S	27	ENSP00000295956:N27S;ENSP00000420213:N27S;ENSP00000351339:N27S;ENSP00000415599:N27S;ENSP00000232447:N27S;ENSP00000349819:N27S	ENSP00000295956:N27S	N	+	2	0	FLNB	57969411	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.100000	0.94213	2.112000	0.64535	0.477000	0.44152	AAC	.	.		0.617	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
ROBO2	6092	hgsc.bcm.edu	37	3	77623726	77623726	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:77623726C>T	ENST00000461745.1	+	14	2948	c.2048C>T	c.(2047-2049)tCg>tTg	p.S683L	ROBO2_ENST00000332191.8_Missense_Mutation_p.S683L|ROBO2_ENST00000487694.3_Missense_Mutation_p.S699L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	683	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.S683L(1)|p.S699L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCGACATCTTCGTGGCAGAAT	0.448																																					p.S683L		Atlas-SNP	.											ROBO2_ENST00000487694,rectum,carcinoma,0,2	ROBO2	527	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2048T						.						101.0	91.0	94.0					3																	77623726		1917	4129	6046	SO:0001583	missense	6092	exon14			CATCTTCGTGGCA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2048C>T	chr3.hg19:g.77623726C>T	ENSP00000417164:p.Ser683Leu	109.0	1.0		159.0	36.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840121	0.16891	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57436	0.4;0.4;0.4	5.7	4.82	0.62117	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.147300	0.06721	N	0.774782	T	0.49389	0.1554	L	0.46157	1.445	0.25363	N	0.988766	B;B;B	0.27380	0.177;0.025;0.056	B;B;B	0.25884	0.064;0.05;0.041	T	0.49808	-0.8900	9	0.46703	T	0.11	.	10.706	0.45956	0.0:0.8315:0.0:0.1685	.	699;683;683	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	699;699;703;683;683;404	ENSP00000417335:S699L;ENSP00000417164:S683L;ENSP00000327536:S683L	ENSP00000327536:S683L	S	+	2	0	ROBO2	77706416	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	1.911000	0.39937	1.374000	0.46228	0.585000	0.79938	TCG	.	.		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	hgsc.bcm.edu	37	3	77629133	77629133	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:77629133C>G	ENST00000461745.1	+	16	3264	c.2364C>G	c.(2362-2364)atC>atG	p.I788M	ROBO2_ENST00000332191.8_Missense_Mutation_p.I788M|ROBO2_ENST00000487694.3_Missense_Mutation_p.I804M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	788	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATTCCATATCAACAAAACTG	0.428																																					p.I788M		Atlas-SNP	.											.	ROBO2	527	.	0			c.C2364G						.						133.0	127.0	129.0					3																	77629133		1891	4109	6000	SO:0001583	missense	6092	exon16			CCATATCAACAAA	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2364C>G	chr3.hg19:g.77629133C>G	ENSP00000417164:p.Ile788Met	63.0	0.0		84.0	19.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434252	0.43224	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57752	0.38;0.38;0.38	5.53	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41194	U	0.000921	T	0.63977	0.2557	M	0.62723	1.935	0.37487	D	0.916220	D;P;D	0.52996	0.957;0.906;0.957	P;P;P	0.61397	0.888;0.859;0.839	T	0.73260	-0.4039	9	0.48119	T	0.1	.	9.6906	0.40125	0.1408:0.785:0.0:0.0743	.	804;788;788	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	M	804;804;808;788;788;509	ENSP00000417335:I804M;ENSP00000417164:I788M;ENSP00000327536:I788M	ENSP00000327536:I788M	I	+	3	3	ROBO2	77711823	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	0.699000	0.25586	1.322000	0.45245	0.563000	0.77884	ATC	.	.		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	hgsc.bcm.edu	37	3	78763622	78763622	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:78763622C>A	ENST00000464233.1	-	8	1083	c.970G>T	c.(970-972)Gac>Tac	p.D324Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.D285Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.D285Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.D285Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	324	Ig-like C2-type 3.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAACCCATGTCACCAGCTGTC	0.398																																					p.D324Y		Atlas-SNP	.											.	ROBO1	833	.	0			c.G970T						.						98.0	97.0	97.0					3																	78763622		1964	4165	6129	SO:0001583	missense	6091	exon8			CCATGTCACCAGC	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.970G>T	chr3.hg19:g.78763622C>A	ENSP00000420321:p.Asp324Tyr	124.0	0.0		99.0	44.0	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558596	0.86231	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.95288	0.8392	9	.	.	.	.	18.9684	0.92706	0.0:1.0:0.0:0.0	.	324;285;285;285	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	Y	285;285;324;285;285;324	ENSP00000406043:D285Y;ENSP00000420321:D324Y;ENSP00000420637:D285Y;ENSP00000417992:D285Y	.	D	-	1	0	ROBO1	78846312	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	2.490000	0.84030	0.563000	0.77884	GAC	.	.		0.398	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ABCC5	10057	hgsc.bcm.edu	37	3	183643410	183643410	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:183643410A>G	ENST00000334444.6	-	29	4385	c.4145T>C	c.(4144-4146)cTg>cCg	p.L1382P	ABCC5_ENST00000265586.6_Missense_Mutation_p.L1339P	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1382	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGCAATGGTCAGCATGGTACA	0.507																																					p.L1382P		Atlas-SNP	.											.	ABCC5	142	.	0			c.T4145C						.						157.0	154.0	155.0					3																	183643410		2067	4210	6277	SO:0001583	missense	10057	exon29			ATGGTCAGCATGG	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.4145T>C	chr3.hg19:g.183643410A>G	ENSP00000333926:p.Leu1382Pro	100.0	0.0		64.0	13.0	NM_005688	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	hg19	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580325	0.86645	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.84589	-1.87;-1.87	4.91	4.91	0.64330	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000005	D	0.94069	0.8099	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95503	0.8579	10	0.87932	D	0	-10.8238	14.7136	0.69251	1.0:0.0:0.0:0.0	.	1339;1382	Q86UX3;O15440	.;MRP5_HUMAN	P	1382;1339	ENSP00000333926:L1382P;ENSP00000265586:L1339P	ENSP00000265586:L1339P	L	-	2	0	ABCC5	185126104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.085000	0.94083	2.066000	0.61787	0.533000	0.62120	CTG	.	.		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
ACAP2	23527	hgsc.bcm.edu	37	3	195063318	195063318	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:195063318G>A	ENST00000326793.6	-	6	640	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	137	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTTACTAACGCATTTTCTTT	0.333																																					p.A137V		Atlas-SNP	.											.	ACAP2	72	.	0			c.C410T						.						192.0	174.0	180.0					3																	195063318		2203	4300	6503	SO:0001583	missense	23527	exon6			ACTAACGCATTTT		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.410C>T	chr3.hg19:g.195063318G>A	ENSP00000324287:p.Ala137Val	139.0	0.0		102.0	39.0	NM_012287	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	hg19	CCDS33924.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422139	0.96111	.	.	ENSG00000114331	ENST00000326793	T	0.00504	6.94	6.08	6.08	0.98989	.	0.509728	0.21860	N	0.068043	T	0.00998	0.0033	M	0.73430	2.235	0.80722	D	1	P	0.51653	0.947	P	0.44422	0.449	T	0.71494	-0.4576	10	0.62326	D	0.03	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	137	Q15057	ACAP2_HUMAN	V	137	ENSP00000324287:A137V	ENSP00000324287:A137V	A	-	2	0	ACAP2	196544607	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	9.414000	0.97362	2.894000	0.99253	0.655000	0.94253	GCG	.	.		0.333	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
MUC4	4585	hgsc.bcm.edu	37	3	195501076	195501076	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr3:195501076G>C	ENST00000346145.4	-	3	375	c.336C>G	c.(334-336)ttC>ttG	p.F112L	MUC4_ENST00000463781.3_Missense_Mutation_p.F4348L|MUC4_ENST00000475231.1_Missense_Mutation_p.F4348L|MUC4_ENST00000349607.4_Missense_Mutation_p.F61L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1105					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCAAGGGGGAAGCCAGTCG	0.652																																					p.F4348L		Atlas-SNP	.											.	MUC4	1505	.	0			c.C13044G						.						42.0	41.0	41.0					3																	195501076		2202	4300	6502	SO:0001583	missense	4585	exon4			AAGGGGGAAGCCA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.336C>G	chr3.hg19:g.195501076G>C	ENSP00000304207:p.Phe112Leu	337.0	0.0		210.0	12.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	hg19	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582544	0.28180	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.48522	0.81;1.18;1.12;0.97	5.27	1.38	0.22167	.	0.000000	0.50627	D	0.000115	T	0.61337	0.2339	M	0.74258	2.255	0.25756	N	0.985009	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.91635	0.935;0.997;0.999;0.999	T	0.51180	-0.8738	10	0.32370	T	0.25	-23.5089	7.8608	0.29509	0.4503:0.0:0.5497:0.0	.	4220;1105;61;112	E7ESK3;Q99102;Q99102-12;Q99102-13	.;MUC4_HUMAN;.;.	L	61;112;4348;4348;1074	ENSP00000338109:F61L;ENSP00000304207:F112L;ENSP00000417498:F4348L;ENSP00000420243:F4348L	ENSP00000304207:F112L	F	-	3	2	MUC4	196986710	0.998000	0.40836	0.981000	0.43875	0.040000	0.13550	0.186000	0.16978	0.213000	0.20722	-0.155000	0.13514	TTC	.	.		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
C4orf22	255119	hgsc.bcm.edu	37	4	81256985	81256985	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr4:81256985A>C	ENST00000358105.3	+	1	112	c.63A>C	c.(61-63)gaA>gaC	p.E21D	C4orf22_ENST00000508675.1_Missense_Mutation_p.E21D|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	21										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ACGCCTATGAAGATTTCCTGG	0.582											OREG0016247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E21D		Atlas-SNP	.											.	C4orf22	35	.	0			c.A63C						.						121.0	113.0	116.0					4																	81256985		2203	4300	6503	SO:0001583	missense	255119	exon1			CTATGAAGATTTC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.63A>C	chr4.hg19:g.81256985A>C	ENSP00000350818:p.Glu21Asp	80.0	0.0	1204	39.0	10.0	NM_152770	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	hg19	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621567	0.46736	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.36878	1.23;1.23	5.44	0.00784	0.14072	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.67700	2.07	0.31451	N	0.670712	D;P	0.53745	0.962;0.748	P;P	0.53490	0.727;0.536	T	0.51196	-0.8736	10	0.42905	T	0.14	.	9.2036	0.37275	0.5082:0.0:0.4918:0.0	.	21;21	E7EQ13;Q6V702	.;CD022_HUMAN	D	21	ENSP00000350818:E21D;ENSP00000425786:E21D	ENSP00000350818:E21D	E	+	3	2	C4orf22	81476009	0.998000	0.40836	0.994000	0.49952	0.175000	0.22909	0.245000	0.18142	-0.115000	0.11915	-0.912000	0.02778	GAA	.	.		0.582	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770	
ANK2	287	hgsc.bcm.edu	37	4	114276315	114276315	+	Missense_Mutation	SNP	G	G	C	rs552900652		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr4:114276315G>C	ENST00000357077.4	+	38	6594	c.6541G>C	c.(6541-6543)Gac>Cac	p.D2181H	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2148H|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2181					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTTCCACTCGACTACATGAA	0.463																																					p.D2181H		Atlas-SNP	.											.	ANK2	576	.	0			c.G6541C						.						126.0	118.0	120.0					4																	114276315		2203	4300	6503	SO:0001583	missense	287	exon38			CCACTCGACTACA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6541G>C	chr4.hg19:g.114276315G>C	ENSP00000349588:p.Asp2181His	79.0	0.0		132.0	15.0	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950343	0.18431	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69806	-0.42;-0.43	5.87	5.87	0.94306	.	0.195946	0.35291	N	0.003319	T	0.80330	0.4603	M	0.62723	1.935	0.41193	D	0.986311	D;D	0.76494	0.971;0.999	P;D	0.67382	0.68;0.951	T	0.77264	-0.2652	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	2148;2181	Q01484;Q01484-4	ANK2_HUMAN;.	H	2181;2148	ENSP00000349588:D2181H;ENSP00000264366:D2148H	.	D	+	1	0	ANK2	114495764	1.000000	0.71417	0.113000	0.21522	0.142000	0.21351	4.140000	0.58031	2.941000	0.99782	0.655000	0.94253	GAC	.	.		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
KIAA1109	84162	hgsc.bcm.edu	37	4	123122219	123122219	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr4:123122219G>T	ENST00000264501.4	+	15	1809	c.1436G>T	c.(1435-1437)tGt>tTt	p.C479F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.C479F|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C479F			Q2LD37	K1109_HUMAN	KIAA1109	479					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACATGGCAGTGTGAATTAGAG	0.358																																					p.C479F		Atlas-SNP	.											.	KIAA1109	424	.	0			c.G1436T						.						91.0	84.0	86.0					4																	123122219		1884	4123	6007	SO:0001583	missense	84162	exon13			GGCAGTGTGAATT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1436G>T	chr4.hg19:g.123122219G>T	ENSP00000264501:p.Cys479Phe	97.0	0.0		71.0	16.0	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786868	0.70337	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.92752	-3.1;-3.1;-3.1	5.93	5.93	0.95920	.	7739.210000	0.00531	N	0.000208	D	0.95598	0.8569	L	0.39245	1.2	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.84544	0.0640	10	0.23891	T	0.37	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	479	Q2LD37	K1109_HUMAN	F	479	ENSP00000264501:C479F;ENSP00000373390:C479F;ENSP00000389925:C479F	ENSP00000264501:C479F	C	+	2	0	KIAA1109	123341669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.798000	0.96311	0.655000	0.94253	TGT	.	.		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	hgsc.bcm.edu	37	4	123165177	123165177	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr4:123165177A>T	ENST00000264501.4	+	31	5284	c.4911A>T	c.(4909-4911)ttA>ttT	p.L1637F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L1637F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L1637F			Q2LD37	K1109_HUMAN	KIAA1109	1637					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGAAGCTTTAGACAGGTATT	0.388																																					p.L1637F		Atlas-SNP	.											.	KIAA1109	424	.	0			c.A4911T						.						155.0	143.0	147.0					4																	123165177		1862	4090	5952	SO:0001583	missense	84162	exon29			AGCTTTAGACAGG	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4911A>T	chr4.hg19:g.123165177A>T	ENSP00000264501:p.Leu1637Phe	133.0	0.0		163.0	63.0	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	hg19	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.936975|3.936975	0.73557|0.73557	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.30714|.	2.11;2.11;1.52|.	5.65|5.65	1.98|1.98	0.26296|0.26296	.|.	0.000000|.	0.35646|.	U|.	0.003078|.	T|.	0.39655|.	0.1086|.	N|N	0.24115|0.24115	0.695|0.695	0.47819|0.47819	D|D	0.999524|0.999524	P;P|.	0.44627|.	0.835;0.839|.	P;P|.	0.49332|.	0.607;0.526|.	T|.	0.07424|.	-1.0773|.	10|.	0.87932|.	D|.	0|.	.|.	8.0898|8.0898	0.30795|0.30795	0.6201:0.0:0.3799:0.0|0.6201:0.0:0.3799:0.0	.|.	1636;1637|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	F|L	1637|210	ENSP00000264501:L1637F;ENSP00000373390:L1637F;ENSP00000389925:L1637F|.	ENSP00000264501:L1637F|.	L|X	+|+	3|2	2|0	KIAA1109|KIAA1109	123384627|123384627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.712000|1.712000	0.37940|0.37940	0.427000|0.427000	0.26145|0.26145	0.460000|0.460000	0.39030|0.39030	TTA|TAG	.	.		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
DCHS2	54798	hgsc.bcm.edu	37	4	155219388	155219388	+	Silent	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr4:155219388T>C	ENST00000357232.4	-	18	4712	c.4713A>G	c.(4711-4713)gtA>gtG	p.V1571V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1571	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTGACATATACTTTTATAA	0.448																																					p.V1571V		Atlas-SNP	.											.	DCHS2	594	.	0			c.A4713G						.						99.0	99.0	99.0					4																	155219388		2203	4300	6503	SO:0001819	synonymous_variant	54798	exon18			GACATATACTTTT	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4713A>G	chr4.hg19:g.155219388T>C		185.0	0.0		168.0	65.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	hg19	CCDS3785.1																																																																																			.	.		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
CARD6	84674	hgsc.bcm.edu	37	5	40853355	40853355	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:40853355G>C	ENST00000254691.5	+	3	2120	c.1921G>C	c.(1921-1923)Gtg>Ctg	p.V641L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	641					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCTCAGATGTGTGTCTGTGGA	0.507																																					p.V641L		Atlas-SNP	.											.	CARD6	141	.	0			c.G1921C						.						141.0	144.0	143.0					5																	40853355		2203	4300	6503	SO:0001583	missense	84674	exon3			AGATGTGTGTCTG	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1921G>C	chr5.hg19:g.40853355G>C	ENSP00000254691:p.Val641Leu	100.0	0.0		74.0	12.0	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	hg19	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458644	0.26248	.	.	ENSG00000132357	ENST00000254691	T	0.15487	2.42	5.0	2.19	0.27852	.	0.136498	0.33457	N	0.004897	T	0.14442	0.0349	L	0.58428	1.81	0.50039	D	0.999841	B	0.21309	0.054	B	0.18263	0.021	T	0.07635	-1.0762	10	0.38643	T	0.18	-5.2146	4.4097	0.11427	0.1869:0.0:0.6363:0.1768	.	641	Q9BX69	CARD6_HUMAN	L	641	ENSP00000254691:V641L	ENSP00000254691:V641L	V	+	1	0	CARD6	40889112	0.005000	0.15991	0.517000	0.27799	0.859000	0.49053	0.534000	0.23098	0.274000	0.22072	0.561000	0.74099	GTG	.	.		0.507	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
IL31RA	133396	hgsc.bcm.edu	37	5	55147432	55147432	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:55147432G>C	ENST00000447346.2	+	1	99	c.34G>C	c.(34-36)Gca>Cca	p.A12P	IL31RA_ENST00000354961.4_5'Flank|IL31RA_ENST00000396836.2_Missense_Mutation_p.A12P|IL31RA_ENST00000359040.5_Missense_Mutation_p.A12P|IL31RA_ENST00000490985.1_5'Flank|IL31RA_ENST00000297015.3_5'Flank|IL31RA_ENST00000396834.1_5'UTR	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	0					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				tttcaccacggcatgtgtctg	0.438																																					p.A12P		Atlas-SNP	.											.	IL31RA	84	.	0			c.G34C						.						149.0	152.0	151.0					5																	55147432		1989	4166	6155	SO:0001583	missense	133396	exon1			ACCACGGCATGTG	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.34G>C	chr5.hg19:g.55147432G>C	ENSP00000415900:p.Ala12Pro	70.0	0.0		69.0	30.0	NM_001242637	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	hg19	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	.	9.523	1.108740	0.20714	.	.	ENSG00000164509	ENST00000396836;ENST00000447346;ENST00000359040	T;T;T	0.42513	1.11;1.0;0.97	1.91	-0.103	0.13609	.	1.979650	0.02851	N	0.129101	T	0.47820	0.1466	.	.	.	0.09310	N	1	D;D;D	0.53885	0.963;0.963;0.963	P;P;P	0.52343	0.696;0.696;0.696	T	0.29701	-1.0003	9	0.59425	D	0.04	.	4.6121	0.12408	0.3668:0.0:0.6332:0.0	.	12;12;12	Q8NI17-5;Q8NI17-2;Q8NI17-8	.;.;.	P	12	ENSP00000380048:A12P;ENSP00000415900:A12P;ENSP00000351935:A12P	ENSP00000351935:A12P	A	+	1	0	IL31RA	55183189	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.368000	0.07543	-0.047000	0.13423	0.491000	0.48974	GCA	.	.		0.438	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
ERCC8	1161	hgsc.bcm.edu	37	5	60200668	60200668	+	Silent	SNP	A	A	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:60200668A>C	ENST00000265038.5	-	5	474	c.432T>G	c.(430-432)gtT>gtG	p.V144V	ERCC8_ENST00000426742.2_Silent_p.V86V|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Intron	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	144					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				GATGACTATAAACTGTTTCCT	0.308																																					p.V144V		Atlas-SNP	.											.	ERCC8	31	.	0			c.T432G						.						108.0	109.0	108.0					5																	60200668		2203	4298	6501	SO:0001819	synonymous_variant	1161	exon5			ACTATAAACTGTT	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.432T>G	chr5.hg19:g.60200668A>C		293.0	0.0		223.0	10.0	NM_000082	B2RB64|Q6FHX5|Q96GB9	Silent	SNP	ENST00000265038.5	hg19	CCDS3978.1																																																																																			.	.		0.308	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082	
ANKRA2	57763	hgsc.bcm.edu	37	5	72857113	72857113	+	Splice_Site	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:72857113G>C	ENST00000296785.3	-	3	948	c.290C>G	c.(289-291)gCt>gGt	p.A97G		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	97						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		ATTGCATTCAGCTAAGTGAAA	0.363																																					p.A97G		Atlas-SNP	.											.	ANKRA2	23	.	0			c.C290G						.						138.0	121.0	127.0					5																	72857113		2203	4300	6503	SO:0001630	splice_region_variant	57763	exon3			CATTCAGCTAAGT	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.290-1C>G	chr5.hg19:g.72857113G>C		98.0	0.0		105.0	42.0	NM_023039		Missense_Mutation	SNP	ENST00000296785.3	hg19	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809262	0.50421	.	.	ENSG00000164331	ENST00000296785	T	0.40476	1.03	4.84	4.84	0.62591	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.44542	1.39	0.80722	D	1	B;B	0.20780	0.043;0.048	B;B	0.28011	0.085;0.022	T	0.19128	-1.0315	10	0.25751	T	0.34	.	18.0124	0.89227	0.0:0.0:1.0:0.0	.	97;97	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	G	97	ENSP00000296785:A97G	ENSP00000296785:A97G	A	-	2	0	ANKRA2	72892869	1.000000	0.71417	0.998000	0.56505	0.640000	0.38277	9.350000	0.97070	2.246000	0.74042	0.449000	0.29647	GCT	.	.		0.363	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	Missense_Mutation
JADE2	23338	hgsc.bcm.edu	37	5	133873703	133873703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:133873703C>A	ENST00000402835.1	+	3	338	c.83C>A	c.(82-84)tCa>tAa	p.S28*	PHF15_ENST00000395003.1_Nonsense_Mutation_p.S28*|PHF15_ENST00000361895.2_Nonsense_Mutation_p.S28*|PHF15_ENST00000282605.4_Nonsense_Mutation_p.S28*																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATCCGCATCAAGATGCTCC	0.572																																					p.S28X		Atlas-SNP	.											.	PHF15	60	.	0			c.C83A						.						89.0	83.0	85.0					5																	133873703		2203	4300	6503	SO:0001587	stop_gained	23338	exon3			CCGCATCAAGATG																												ENST00000402835.1:c.83C>A	chr5.hg19:g.133873703C>A	ENSP00000384671:p.Ser28*	151.0	0.0		117.0	10.0	NM_015288		Nonsense_Mutation	SNP	ENST00000402835.1	hg19		.	.	.	.	.	.	.	.	.	.	C	38	6.720166	0.97788	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	.	.	.	5.77	4.9	0.64082	.	23.323500	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5355	0.56140	0.0:0.9239:0.0:0.0761	.	.	.	.	X	28;28;44;28;28;28;28;28;28	.	ENSP00000282605:S28X	S	+	2	0	PHF15	133901602	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.157000	0.50716	2.724000	0.93272	0.561000	0.74099	TCA	.	.		0.572	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
TRPC7	57113	hgsc.bcm.edu	37	5	135651385	135651385	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:135651385T>C	ENST00000513104.1	-	3	1145	c.863A>G	c.(862-864)gAa>gGa	p.E288G	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	288					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAAATTGCTTCCACCTCTTC	0.458																																					p.E288G		Atlas-SNP	.											.	TRPC7	126	.	0			c.A863G						.						101.0	105.0	103.0					5																	135651385		2070	4222	6292	SO:0001583	missense	57113	exon3			ATTGCTTCCACCT	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.863A>G	chr5.hg19:g.135651385T>C	ENSP00000426070:p.Glu288Gly	87.0	0.0		102.0	31.0	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	hg19	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281495	0.80692	.	.	ENSG00000069018	ENST00000513104;ENST00000265193	T	0.63744	-0.06	5.64	5.64	0.86602	.	0.049405	0.85682	D	0.000000	T	0.73125	0.3547	M	0.83223	2.63	0.80722	D	1	P;B	0.43314	0.803;0.054	P;B	0.47626	0.552;0.094	T	0.77281	-0.2646	10	0.59425	D	0.04	-18.7765	16.0238	0.80522	0.0:0.0:0.0:1.0	.	288;288	Q70T25;Q9HCX4	.;TRPC7_HUMAN	G	288	ENSP00000426070:E288G	ENSP00000265193:E288G	E	-	2	0	TRPC7	135679284	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.138000	0.71717	2.367000	0.80283	0.528000	0.53228	GAA	.	.		0.458	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PCDHGB6	56100	hgsc.bcm.edu	37	5	140787868	140787868	+	Silent	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:140787868C>A	ENST00000520790.1	+	1	99	c.99C>A	c.(97-99)atC>atA	p.I33I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	33	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCCGATCCGCTACTCGA	0.652											OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I33I		Atlas-SNP	.											.	PCDHGB6	120	.	0			c.C99A						.						36.0	39.0	38.0					5																	140787868		1912	4129	6041	SO:0001819	synonymous_variant	56100	exon1			GCCGATCCGCTAC	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.99C>A	chr5.hg19:g.140787868C>A		199.0	0.0	1659	86.0	7.0	NM_032100	Q9Y5C5	Silent	SNP	ENST00000520790.1	hg19	CCDS54929.1																																																																																			.	.		0.652	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
EBF1	1879	hgsc.bcm.edu	37	5	158140067	158140067	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:158140067G>C	ENST00000313708.6	-	13	1562	c.1280C>G	c.(1279-1281)aCc>aGc	p.T427S	EBF1_ENST00000517373.1_Missense_Mutation_p.T419S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.T396S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	427					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)			GTGGACCGAGGTGTTAGCAAG	0.552			T	HMGA2	lipoma																																p.T427S		Atlas-SNP	.		Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	EBF1	110	.	0			c.C1280G						.						128.0	108.0	115.0					5																	158140067		2203	4300	6503	SO:0001583	missense	1879	exon13			ACCGAGGTGTTAG	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.1280C>G	chr5.hg19:g.158140067G>C	ENSP00000322898:p.Thr427Ser	116.0	0.0		130.0	31.0	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	hg19	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	6.048	0.377166	0.11466	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.28454	1.61;1.61;1.61	5.91	5.91	0.95273	.	0.295799	0.39020	N	0.001489	T	0.16514	0.0397	N	0.04746	-0.17	0.33396	D	0.576777	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.09618	-1.0666	10	0.02654	T	1	-7.445	20.2985	0.98592	0.0:0.0:1.0:0.0	.	427;414;427;396	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	S	427;427;396;419	ENSP00000322898:T427S;ENSP00000370029:T396S;ENSP00000428020:T419S	ENSP00000322898:T427S	T	-	2	0	EBF1	158072645	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.151000	0.64875	2.793000	0.96121	0.655000	0.94253	ACC	.	.		0.552	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
TTC1	7265	hgsc.bcm.edu	37	5	159437674	159437674	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr5:159437674A>T	ENST00000231238.5	+	2	249	c.139A>T	c.(139-141)Agg>Tgg	p.R47W	TTC1_ENST00000522793.1_Missense_Mutation_p.R47W|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	47					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TAAGCTGCTCAGGGATGATGA	0.517																																					p.R47W		Atlas-SNP	.											.	TTC1	26	.	0			c.A139T						.						56.0	54.0	55.0					5																	159437674		2203	4300	6503	SO:0001583	missense	7265	exon2			CTGCTCAGGGATG	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.139A>T	chr5.hg19:g.159437674A>T	ENSP00000231238:p.Arg47Trp	153.0	0.0		109.0	19.0	NM_003314	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	hg19	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	A	9.392	1.075642	0.20227	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.18174	2.23;2.23	5.09	-5.37	0.02681	.	1.622640	0.02937	N	0.139952	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.16289	0.015	T	0.24297	-1.0164	10	0.66056	D	0.02	-7.8588	17.0131	0.86412	0.2469:0.7531:0.0:0.0	.	47	Q99614	TTC1_HUMAN	W	47	ENSP00000231238:R47W;ENSP00000429225:R47W	ENSP00000231238:R47W	R	+	1	2	TTC1	159370252	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.457000	0.06745	-1.283000	0.02393	0.454000	0.30748	AGG	.	.		0.517	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
HLA-B	3106	hgsc.bcm.edu	37	6	31324656	31324656	+	Missense_Mutation	SNP	T	T	C	rs281864590		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:31324656T>C	ENST00000412585.2	-	2	180	c.152A>G	c.(151-153)tAc>tGc	p.Y51C		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	51	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GTCGTCCACGTAGCCCACTGA	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																												p.Y51C		Atlas-SNP	.											.	HLA-B	54	.	0			c.A152G						.						33.0	26.0	28.0					6																	31324656		2144	4156	6300	SO:0001583	missense	3106	exon2	Familial Cancer Database	;Lichen Sclerosis, Familial	TCCACGTAGCCCA	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.152A>G	chr6.hg19:g.31324656T>C	ENSP00000399168:p.Tyr51Cys	190.0	0.0		113.0	28.0	NM_005514	Q29764	Missense_Mutation	SNP	ENST00000412585.2	hg19	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	7.967	0.748333	0.15710	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.01165	5.24;5.24	3.2	3.2	0.36748	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.265381	0.19817	U	0.105417	T	0.05640	0.0148	H	0.96662	3.86	0.30030	N	0.81353	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.06162	-1.0842	10	0.87932	D	0	.	9.7863	0.40677	0.0:0.0:0.0:1.0	.	51;51;26	P30480;P01889;Q92671	1B42_HUMAN;1B07_HUMAN;.	C	51;62	ENSP00000399168:Y51C;ENSP00000405931:Y62C	ENSP00000399168:Y51C	Y	-	2	0	HLA-B	31432635	1.000000	0.71417	0.966000	0.40874	0.004000	0.04260	1.253000	0.32886	1.476000	0.48215	0.368000	0.22195	TAC	.	.		0.677	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
IBTK	25998	hgsc.bcm.edu	37	6	82906144	82906144	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:82906144C>G	ENST00000306270.7	-	22	3594	c.3045G>C	c.(3043-3045)aaG>aaC	p.K1015N	IBTK_ENST00000510291.1_Intron|IBTK_ENST00000503631.1_Missense_Mutation_p.K814N	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1015					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAGAATTGGTCTTACCAGACT	0.353																																					p.K1015N		Atlas-SNP	.											.	IBTK	128	.	0			c.G3045C						.						55.0	54.0	54.0					6																	82906144		2203	4300	6503	SO:0001583	missense	25998	exon22			ATTGGTCTTACCA	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3045G>C	chr6.hg19:g.82906144C>G	ENSP00000305721:p.Lys1015Asn	61.0	0.0		56.0	9.0	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	hg19	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965176	0.53507	.	.	ENSG00000005700	ENST00000306270;ENST00000503631	T;T	0.36878	1.62;1.23	5.65	2.85	0.33270	.	0.046882	0.85682	D	0.000000	T	0.37293	0.0998	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.71184	0.972;0.968;0.929	T	0.19095	-1.0316	10	0.27785	T	0.31	-14.0282	7.2579	0.26187	0.0:0.5682:0.0:0.4318	.	814;1015;1015	E9PDR5;Q9P2D0-2;Q9P2D0	.;.;IBTK_HUMAN	N	1015;814	ENSP00000305721:K1015N;ENSP00000422762:K814N	ENSP00000305721:K1015N	K	-	3	2	IBTK	82962863	0.931000	0.31567	1.000000	0.80357	0.831000	0.47069	0.031000	0.13710	0.840000	0.34995	0.563000	0.77884	AAG	.	.		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
QRSL1	55278	hgsc.bcm.edu	37	6	107111016	107111016	+	Missense_Mutation	SNP	G	G	A	rs530501491		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:107111016G>A	ENST00000369046.4	+	10	1426	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AACAGAACCCGAAGTGCCCAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18270	0.0		0.0	False		,,,				2504	0.001				p.R441Q	NSCLC(192;2127 2142 11668 26277 49545)	Atlas-SNP	.											.	QRSL1	30	.	0			c.G1322A						.						82.0	78.0	79.0					6																	107111016		2203	4300	6503	SO:0001583	missense	55278	exon10			GAACCCGAAGTGC	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1322G>A	chr6.hg19:g.107111016G>A	ENSP00000358042:p.Arg441Gln	103.0	0.0		76.0	12.0	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	hg19	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647666	0.67358	.	.	ENSG00000130348	ENST00000369046	T	0.54479	0.57	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.02973	-0.45	0.80722	D	1	B	0.28470	0.213	B	0.28553	0.091	T	0.21280	-1.0250	10	0.09590	T	0.72	-11.0963	19.2883	0.94087	0.0:0.0:1.0:0.0	.	441	Q9H0R6	GATA_HUMAN	Q	441	ENSP00000358042:R441Q	ENSP00000358042:R441Q	R	+	2	0	QRSL1	107217709	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	9.476000	0.97823	2.578000	0.87016	0.484000	0.47621	CGA	.	.		0.433	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
WISP3	8838	hgsc.bcm.edu	37	6	112382473	112382473	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:112382473G>A	ENST00000368666.2	+	2	614	c.328G>A	c.(328-330)Gag>Aag	p.E110K	WISP3_ENST00000368663.3_Missense_Mutation_p.E88K|WISP3_ENST00000409166.1_5'Flank|WISP3_ENST00000361714.1_Missense_Mutation_p.E128K|WISP3_ENST00000230529.5_Missense_Mutation_p.E110K|WISP3_ENST00000604763.1_Missense_Mutation_p.E110K	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	110	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GCCTAGGTACGAGACTGGAGT	0.458																																					p.E128K		Atlas-SNP	.											.	WISP3	33	.	0			c.G382A						.						121.0	108.0	113.0					6																	112382473		2203	4300	6503	SO:0001583	missense	8838	exon2			AGGTACGAGACTG	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.328G>A	chr6.hg19:g.112382473G>A	ENSP00000357655:p.Glu110Lys	107.0	0.0		115.0	20.0	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	hg19	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062988	0.55432	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000541400;ENST00000368663	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	4.51	3.57	0.40892	Insulin-like growth factor-binding protein, IGFBP (2);	0.255500	0.39985	N	0.001202	T	0.53981	0.1830	L	0.58302	1.8	0.50171	D	0.999858	D;D	0.63046	0.992;0.982	P;P	0.53593	0.73;0.464	T	0.53578	-0.8419	10	0.11794	T	0.64	-3.0554	14.2091	0.65753	0.0:0.1503:0.8497:0.0	.	128;110	O95389-2;O95389	.;WISP3_HUMAN	K	110;110;128;110;88	ENSP00000357655:E110K;ENSP00000230529:E110K;ENSP00000354734:E128K;ENSP00000357652:E88K	ENSP00000230529:E110K	E	+	1	0	WISP3	112489166	1.000000	0.71417	0.866000	0.34008	0.757000	0.42996	5.366000	0.66122	2.203000	0.70933	0.563000	0.77884	GAG	.	.		0.458	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
SGK1	6446	hgsc.bcm.edu	37	6	134498800	134498800	+	5'Flank	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:134498800C>G	ENST00000237305.7	-	0	0				SGK1_ENST00000413996.3_5'Flank|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000475719.2_5'Flank|SGK1_ENST00000367857.5_5'Flank|SGK1_ENST00000367858.5_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TAAGTACGAACCTTTCAAAGG	0.488																																					.		Atlas-SNP	.											.	SGK1	387	.	0			c.160+1G>C						.						110.0	102.0	104.0					6																	134498800		1568	3582	5150	SO:0001631	upstream_gene_variant	6446	exon2			TACGAACCTTTCA	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		chr6.hg19:g.134498800C>G	Exception_encountered	123.0	0.0		76.0	27.0	NM_001143677	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Splice_Site	SNP	ENST00000237305.7	hg19	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.240050	0.22711	.	.	ENSG00000118515	ENST00000528577	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8313	0.78752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SGK1	134540493	1.000000	0.71417	0.998000	0.56505	0.032000	0.12392	3.943000	0.56621	2.797000	0.96272	0.655000	0.94253	.	.	.		0.488	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
IPCEF1	26034	hgsc.bcm.edu	37	6	154481159	154481159	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:154481159A>G	ENST00000265198.4	-	12	1273	c.1118T>C	c.(1117-1119)cTg>cCg	p.L373P	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.L374P|IPCEF1_ENST00000519344.1_Missense_Mutation_p.L345P|IPCEF1_ENST00000422970.2_Missense_Mutation_p.L374P	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	373					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AATCATGGCCAGATCATGTTC	0.428																																					p.L374P		Atlas-SNP	.											.	IPCEF1	45	.	0			c.T1121C						.						52.0	54.0	53.0					6																	154481159		2203	4300	6503	SO:0001583	missense	26034	exon13			ATGGCCAGATCAT	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1118T>C	chr6.hg19:g.154481159A>G	ENSP00000265198:p.Leu373Pro	39.0	0.0		54.0	12.0	NM_001130699	A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	hg19	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944813	0.73672	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.39056	1.1;1.1;1.1;1.17	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	T	0.61236	0.2331	M	0.83603	2.65	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.68337	-0.5435	10	0.66056	D	0.02	-12.5156	15.5527	0.76167	1.0:0.0:0.0:0.0	.	373;374;345	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	P	373;374;374;345	ENSP00000265198:L373P;ENSP00000394751:L374P;ENSP00000356189:L374P;ENSP00000430287:L345P	ENSP00000265198:L373P	L	-	2	0	IPCEF1	154522851	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	8.817000	0.91985	2.084000	0.62774	0.383000	0.25322	CTG	.	.		0.428	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699	
TULP4	56995	hgsc.bcm.edu	37	6	158923744	158923744	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:158923744G>A	ENST00000367097.3	+	13	4406	c.3049G>A	c.(3049-3051)Ggc>Agc	p.G1017S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1017					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAAGTCCAAGGGCGGGCCCGG	0.721																																					p.G1017S		Atlas-SNP	.											.	TULP4	137	.	0			c.G3049A						.						5.0	7.0	6.0					6																	158923744		1967	3956	5923	SO:0001583	missense	56995	exon13			TCCAAGGGCGGGC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3049G>A	chr6.hg19:g.158923744G>A	ENSP00000356064:p.Gly1017Ser	59.0	0.0		34.0	9.0	NM_020245	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.528053	0.00959	.	.	ENSG00000130338	ENST00000367097	T	0.58797	0.31	4.49	2.4	0.29515	.	0.687206	0.15355	N	0.266720	T	0.11495	0.0280	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24941	-1.0146	10	0.07325	T	0.83	-13.7441	5.6839	0.17792	0.7435:0.0:0.2565:0.0	.	1017	Q9NRJ4	TULP4_HUMAN	S	1017	ENSP00000356064:G1017S	ENSP00000356064:G1017S	G	+	1	0	TULP4	158843732	1.000000	0.71417	0.943000	0.38184	0.041000	0.13682	2.308000	0.43690	0.332000	0.23536	0.561000	0.74099	GGC	.	.		0.721	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
FNDC1	84624	hgsc.bcm.edu	37	6	159653615	159653615	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:159653615G>A	ENST00000297267.9	+	11	2271	c.2071G>A	c.(2071-2073)Gca>Aca	p.A691T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A628T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	691	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCACCCCGGCGCAAAGCCAGC	0.706																																					p.A691T		Atlas-SNP	.											.	FNDC1	250	.	0			c.G2071A						.						14.0	17.0	16.0					6																	159653615		1932	4116	6048	SO:0001583	missense	84624	exon11			CCCGGCGCAAAGC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2071G>A	chr6.hg19:g.159653615G>A	ENSP00000297267:p.Ala691Thr	173.0	0.0		82.0	17.0	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	hg19	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.718|6.718	0.501191|0.501191	0.12822|0.12822	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07216|.	3.21;4.0|.	4.13|4.13	-8.25|-8.25	0.01025|0.01025	.|.	1.699670|.	0.03305|.	N|.	0.189585|.	T|T	0.03348|0.03348	0.0097|0.0097	N|N	0.04203|0.04203	-0.255|-0.255	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.28839|0.28839	-1.0031|-1.0031	10|5	0.07030|.	T|.	0.85|.	0.4295|0.4295	8.3637|8.3637	0.32374|0.32374	0.1444:0.0:0.6126:0.2431|0.1444:0.0:0.6126:0.2431	.|.	628;691|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	691;628|586	ENSP00000297267:A691T;ENSP00000342460:A628T|.	ENSP00000297267:A691T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159573605|159573605	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	-2.067000|-2.067000	0.01383|0.01383	-2.374000|-2.374000	0.00599|0.00599	-1.093000|-1.093000	0.02169|0.02169	GCA|CGC	.	.		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
LPA	4018	hgsc.bcm.edu	37	6	161016462	161016462	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr6:161016462G>A	ENST00000316300.5	-	21	3437	c.3393C>T	c.(3391-3393)tgC>tgT	p.C1131C	LPA_ENST00000447678.1_Silent_p.C1131C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3639	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGTCACCAGGCATTGTGTCA	0.517																																					p.C1131C		Atlas-SNP	.											.	LPA	237	.	0			c.C3393T						.						151.0	151.0	151.0					6																	161016462		2137	4271	6408	SO:0001819	synonymous_variant	4018	exon22			CACCAGGCATTGT	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3393C>T	chr6.hg19:g.161016462G>A		40.0	0.0		61.0	25.0	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	hg19	CCDS43523.1																																																																																			.	.		0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
MALSU1	115416	hgsc.bcm.edu	37	7	23347541	23347541	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:23347541A>G	ENST00000466681.1	+	3	643	c.490A>G	c.(490-492)Act>Gct	p.T164A		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	164					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											AGGGAAGGACACTGATGACTG	0.418																																					p.T164A		Atlas-SNP	.											.	.	.	.	0			c.A490G						.						293.0	252.0	266.0					7																	23347541		2203	4300	6503	SO:0001583	missense	115416	exon3			AAGGACACTGATG	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.490A>G	chr7.hg19:g.23347541A>G	ENSP00000419370:p.Thr164Ala	139.0	0.0		130.0	19.0	NM_138446	A4D154	Missense_Mutation	SNP	ENST00000466681.1	hg19	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028370	0.35797	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.04	2.36	0.29203	.	0.194714	0.43260	N	0.000595	T	0.25568	0.0622	N	0.14661	0.345	0.32287	N	0.566877	B	0.13145	0.007	B	0.21151	0.033	T	0.22312	-1.0220	9	0.15952	T	0.53	-21.2521	7.6888	0.28557	0.8029:0.0:0.0723:0.1247	.	164	Q96EH3	CG030_HUMAN	A	164	.	ENSP00000419370:T164A	T	+	1	0	C7orf30	23314066	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	1.867000	0.39499	0.814000	0.34374	0.528000	0.53228	ACT	.	.		0.418	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446	
DPY19L1	23333	hgsc.bcm.edu	37	7	34979865	34979865	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:34979865T>G	ENST00000310974.4	-	19	1689	c.1545A>C	c.(1543-1545)caA>caC	p.Q515H	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TTGCTGAACCTTGTATTGACA	0.378																																					p.Q515H		Atlas-SNP	.											.	DPY19L1	56	.	0			c.A1545C						.						82.0	70.0	74.0					7																	34979865		1842	4093	5935	SO:0001583	missense	23333	exon19			TGAACCTTGTATT	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1545A>C	chr7.hg19:g.34979865T>G	ENSP00000308695:p.Gln515His	54.0	0.0		72.0	14.0	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	hg19	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	15.77	2.932899	0.52866	.	.	ENSG00000173852	ENST00000310974	T	0.56941	0.43	5.0	-1.62	0.08372	.	0.182084	0.48767	D	0.000172	T	0.59183	0.2175	L	0.55103	1.725	0.42466	D	0.992806	D	0.71674	0.998	D	0.66196	0.942	T	0.56492	-0.7970	10	0.29301	T	0.29	-10.8028	11.8054	0.52152	0.0:0.4572:0.0:0.5428	.	515	Q2PZI1	D19L1_HUMAN	H	515	ENSP00000308695:Q515H	ENSP00000308695:Q515H	Q	-	3	2	DPY19L1	34946390	0.914000	0.31030	0.994000	0.49952	0.996000	0.88848	-0.006000	0.12833	-0.189000	0.10482	0.482000	0.46254	CAA	.	.		0.378	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
MLXIPL	51085	hgsc.bcm.edu	37	7	73038554	73038554	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:73038554A>G	ENST00000313375.3	-	1	316	c.269T>C	c.(268-270)tTc>tCc	p.F90S	MLXIPL_ENST00000429400.2_Missense_Mutation_p.F90S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.F90S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.F90S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.F90S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.F90S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	90					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAAGCACTCGAAGAGGCGTGT	0.731																																					p.F90S		Atlas-SNP	.											.	MLXIPL	54	.	0			c.T269C						.						14.0	11.0	12.0					7																	73038554		2191	4273	6464	SO:0001583	missense	51085	exon1			CACTCGAAGAGGC	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.269T>C	chr7.hg19:g.73038554A>G	ENSP00000320886:p.Phe90Ser	229.0	0.0		205.0	122.0	NM_032954	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	hg19	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165676	0.94768	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	M	0.78456	2.415	0.44282	D	0.997145	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.991;0.996;0.996;0.996	T	0.59915	-0.7364	10	0.87932	D	0	-21.539	11.4764	0.50300	1.0:0.0:0.0:0.0	.	90;90;90;90;90	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	S	90	ENSP00000412330:F90S;ENSP00000406296:F90S;ENSP00000320886:F90S;ENSP00000346629:F90S;ENSP00000378616:F90S;ENSP00000392636:F90S;ENSP00000395172:F90S	ENSP00000320886:F90S	F	-	2	0	MLXIPL	72676490	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.041000	0.93788	1.799000	0.52666	0.459000	0.35465	TTC	.	.		0.731	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
LIMK1	3984	hgsc.bcm.edu	37	7	73525982	73525982	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:73525982G>C	ENST00000336180.2	+	11	1340	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	LIMK1_ENST00000538333.3_Missense_Mutation_p.S396T|LIMK1_ENST00000418310.1_Missense_Mutation_p.S460T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCCCAGGACAGCCAGTACCCA	0.597																																					p.S430T		Atlas-SNP	.											.	LIMK1	55	.	0			c.G1289C						.						47.0	40.0	42.0					7																	73525982		2203	4300	6503	SO:0001583	missense	3984	exon11			AGGACAGCCAGTA	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1289G>C	chr7.hg19:g.73525982G>C	ENSP00000336740:p.Ser430Thr	117.0	0.0		96.0	9.0	NM_002314	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	hg19	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414846	0.25465	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	D;D;D	0.82803	-1.65;-1.65;-1.65	4.64	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.091548	0.85682	D	0.000000	T	0.64549	0.2608	N	0.08118	0	0.45867	D	0.99872	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59794	-0.7387	10	0.15066	T	0.55	-40.0184	11.0546	0.47911	0.0:0.1886:0.8114:0.0	.	396;430	B7Z6I8;P53667	.;LIMK1_HUMAN	T	460;430;430;396	ENSP00000409717:S460T;ENSP00000336740:S430T;ENSP00000444452:S396T	ENSP00000336740:S430T	S	+	2	0	LIMK1	73163918	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.334000	0.65923	2.128000	0.65567	0.543000	0.68304	AGC	.	.		0.597	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314	
SRPK2	6733	hgsc.bcm.edu	37	7	104844117	104844117	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:104844117A>T	ENST00000393651.3	-	3	274	c.187T>A	c.(187-189)Tca>Aca	p.S63T	SRPK2_ENST00000357311.3_Missense_Mutation_p.S52T|SRPK2_ENST00000489828.1_Missense_Mutation_p.S52T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TCATCATCTGATCCCAGGATC	0.592																																					p.S63T		Atlas-SNP	.											.	SRPK2	76	.	0			c.T187A						.						127.0	105.0	112.0					7																	104844117		2203	4300	6503	SO:0001583	missense	6733	exon3			CATCTGATCCCAG	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.187T>A	chr7.hg19:g.104844117A>T	ENSP00000377262:p.Ser63Thr	48.0	0.0		67.0	21.0	NM_182692		Missense_Mutation	SNP	ENST00000393651.3	hg19	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032647	0.75504	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.35236	1.32;1.33;1.33;3.25;2.82	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.48877	1.53	0.80722	D	1	D;P	0.61697	0.99;0.924	D;P	0.72982	0.979;0.878	T	0.53500	-0.8430	10	0.62326	D	0.03	-15.5324	14.818	0.70050	1.0:0.0:0.0:0.0	.	63;52	P78362-2;P78362	.;SRPK2_HUMAN	T	63;52;52;100;52	ENSP00000377262:S63T;ENSP00000349863:S52T;ENSP00000419791:S52T;ENSP00000419240:S100T;ENSP00000417357:S52T	ENSP00000349863:S52T	S	-	1	0	SRPK2	104631353	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	8.548000	0.90669	2.317000	0.78254	0.459000	0.35465	TCA	.	.		0.592	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
TAS2R38	5726	hgsc.bcm.edu	37	7	141673139	141673139	+	Nonsense_Mutation	SNP	G	G	C	rs373253461		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr7:141673139G>C	ENST00000547270.1	-	1	434	c.351C>G	c.(349-351)taC>taG	p.Y117*		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	117					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCTTGGAGCAGTAAAGCAGGC	0.512																																					p.Y117X		Atlas-SNP	.											.	TAS2R38	51	.	0			c.C351G						.						70.0	68.0	69.0					7																	141673139		2203	4300	6503	SO:0001587	stop_gained	5726	exon1			GGAGCAGTAAAGC	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.351C>G	chr7.hg19:g.141673139G>C	ENSP00000448219:p.Tyr117*	78.0	0.0		99.0	22.0	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Nonsense_Mutation	SNP	ENST00000547270.1	hg19	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523731	0.85600	.	.	ENSG00000257138	ENST00000547270	.	.	.	4.7	0.865	0.19074	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8076	0.23786	0.3908:0.0:0.6092:0.0	.	.	.	.	X	117	.	ENSP00000331291:Y117X	Y	-	3	2	TAS2R38	141319608	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	0.507000	0.22675	0.046000	0.15833	0.655000	0.94253	TAC	.	.		0.512	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
MTUS1	57509	hgsc.bcm.edu	37	8	17611234	17611234	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr8:17611234G>A	ENST00000262102.6	-	2	2307	c.2083C>T	c.(2083-2085)Ctg>Ttg	p.L695L	MTUS1_ENST00000381869.3_Silent_p.L695L|MTUS1_ENST00000519263.1_Silent_p.L695L|MTUS1_ENST00000381862.3_Silent_p.L695L	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	695					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCAAAAACAGAGAACCATAT	0.313																																					p.L695L		Atlas-SNP	.											.	MTUS1	144	.	0			c.C2083T						.						84.0	72.0	76.0					8																	17611234		1804	4069	5873	SO:0001819	synonymous_variant	57509	exon2			AAAACAGAGAACC	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2083C>T	chr8.hg19:g.17611234G>A		57.0	0.0		44.0	10.0	NM_001001924	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	hg19	CCDS43717.1																																																																																			.	.		0.313	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
PCM1	5108	hgsc.bcm.edu	37	8	17796420	17796420	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr8:17796420A>G	ENST00000519253.1	+	5	765	c.514A>G	c.(514-516)Aaa>Gaa	p.K172E	PCM1_ENST00000325083.8_Missense_Mutation_p.K172E|PCM1_ENST00000518537.1_Missense_Mutation_p.K172E|PCM1_ENST00000524226.1_Missense_Mutation_p.K172E			Q15154	PCM1_HUMAN	pericentriolar material 1	172					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGCACAGTGTAAAGAGTTGTT	0.438			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.K172E		Atlas-SNP	.		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	PCM1	120	.	0			c.A514G						.						121.0	115.0	117.0					8																	17796420		1901	4124	6025	SO:0001583	missense	5108	exon5			CAGTGTAAAGAGT		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.514A>G	chr8.hg19:g.17796420A>G	ENSP00000431099:p.Lys172Glu	134.0	0.0		137.0	66.0	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	hg19		.	.	.	.	.	.	.	.	.	.	A	22.4	4.290142	0.80914	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.30182	3.2;2.36;1.54;1.58;3.2;2.96	5.62	4.44	0.53790	.	0.094403	0.64402	D	0.000001	T	0.38558	0.1045	N	0.24115	0.695	0.80722	D	1	P;D;P;P	0.63046	0.925;0.992;0.925;0.925	P;D;P;P	0.74674	0.54;0.984;0.54;0.54	T	0.08973	-1.0696	10	0.28530	T	0.3	-29.9836	13.0712	0.59061	0.8657:0.1343:0.0:0.0	.	172;172;172;172	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	E	172	ENSP00000327077:K172E;ENSP00000428131:K172E;ENSP00000428123:K172E;ENSP00000429941:K172E;ENSP00000431099:K172E;ENSP00000430521:K172E	ENSP00000327077:K172E	K	+	1	0	PCM1	17840700	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	8.544000	0.90654	1.048000	0.40298	0.460000	0.39030	AAA	.	.		0.438	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
TAF2	6873	hgsc.bcm.edu	37	8	120744294	120744294	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr8:120744294T>C	ENST00000378164.2	-	26	3768	c.3470A>G	c.(3469-3471)aAg>aGg	p.K1157R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1157	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTCTTCTTCTTTTTCTTGTG	0.473																																					p.K1157R		Atlas-SNP	.											.	TAF2	204	.	0			c.A3470G						.						434.0	375.0	395.0					8																	120744294		2203	4300	6503	SO:0001583	missense	6873	exon26			TTCTTCTTTTTCT	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3470A>G	chr8.hg19:g.120744294T>C	ENSP00000367406:p.Lys1157Arg	75.0	0.0		77.0	6.0	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	hg19	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670424	0.88348	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.57273	1.37;0.41	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.58680	0.2139	L	0.27053	0.805	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.62784	-0.6781	10	0.87932	D	0	-24.4748	14.2903	0.66273	0.0:0.0:0.0:1.0	.	1157	Q6P1X5	TAF2_HUMAN	R	1157;333	ENSP00000367406:K1157R;ENSP00000436750:K333R	ENSP00000367406:K1157R	K	-	2	0	TAF2	120813475	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.415000	0.59809	2.299000	0.77371	0.528000	0.53228	AAG	.	.		0.473	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
LRRC14	9684	hgsc.bcm.edu	37	8	145740426	145740426	+	5'Flank	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr8:145740426C>G	ENST00000292524.1	+	0	0				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.G505A|LRRC14_ENST00000529022.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTTGCCGGCACCTGTAGGCAG	0.667																																					p.G505A		Atlas-SNP	.											.	RECQL4	75	.	0			c.G1514C						.						20.0	26.0	24.0					8																	145740426		2163	4267	6430	SO:0001631	upstream_gene_variant	9401	exon9			CCGGCACCTGTAG	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		chr8.hg19:g.145740426C>G	Exception_encountered	192.0	0.0		88.0	6.0	NM_004260	A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	hg19	CCDS6432.1																																																																																			.	.		0.667	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
RORB	6096	hgsc.bcm.edu	37	9	77249681	77249681	+	Silent	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr9:77249681A>T	ENST00000396204.2	+	3	261	c.261A>T	c.(259-261)tcA>tcT	p.S87S	RORB_ENST00000376896.3_Silent_p.S76S			Q92753	RORB_HUMAN	RAR-related orphan receptor B	87					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TAGGAATGTCAAGAGATGGTA	0.438																																					p.S76S		Atlas-SNP	.											.	RORB	89	.	0			c.A228T						.						85.0	79.0	81.0					9																	77249681		2203	4300	6503	SO:0001819	synonymous_variant	6096	exon3			AATGTCAAGAGAT	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.261A>T	chr9.hg19:g.77249681A>T		61.0	0.0		56.0	6.0	NM_006914	Q8WX73	Silent	SNP	ENST00000396204.2	hg19																																																																																				.	.		0.438	RORB-201	KNOWN	basic	protein_coding	protein_coding			
MURC	347273	hgsc.bcm.edu	37	9	103340609	103340609	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr9:103340609G>A	ENST00000307584.5	+	1	249	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	62					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGAAATGGAAAATGCCAT	0.448																																					p.E62K		Atlas-SNP	.											.	MURC	43	.	0			c.G184A						.						135.0	144.0	141.0					9																	103340609		2203	4300	6503	SO:0001583	missense	347273	exon1			GAAATGGAAAATG	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.184G>A	chr9.hg19:g.103340609G>A	ENSP00000418668:p.Glu62Lys	147.0	0.0		99.0	33.0	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	hg19	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709396	0.68615	.	.	ENSG00000170681	ENST00000307584	T	0.65549	-0.16	5.39	5.39	0.77823	.	0.101290	0.64402	D	0.000003	T	0.73466	0.3590	M	0.75085	2.285	0.58432	D	0.999999	P	0.51791	0.948	P	0.52823	0.71	T	0.77381	-0.2609	10	0.72032	D	0.01	-10.4406	16.6642	0.85248	0.0:0.0:1.0:0.0	.	62	Q5BKX8	MURC_HUMAN	K	62	ENSP00000418668:E62K	ENSP00000418668:E62K	E	+	1	0	MURC	102380430	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.869000	0.99810	2.532000	0.85374	0.655000	0.94253	GAA	.	.		0.448	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
ITIH2	3698	hgsc.bcm.edu	37	10	7749193	7749193	+	Missense_Mutation	SNP	G	G	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr10:7749193G>T	ENST00000358415.4	+	3	355	c.189G>T	c.(187-189)atG>atT	p.M63I	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Intron	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	63	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGGAAGAAATGATGGTAAGTT	0.368																																					p.M63I		Atlas-SNP	.											.	ITIH2	144	.	0			c.G189T						.						172.0	170.0	171.0					10																	7749193		2203	4300	6503	SO:0001583	missense	3698	exon3			AGAAATGATGGTA	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.189G>T	chr10.hg19:g.7749193G>T	ENSP00000351190:p.Met63Ile	85.0	0.0		61.0	19.0	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	hg19	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	0.836	-0.743620	0.03088	.	.	ENSG00000151655	ENST00000358415;ENST00000429820	T;T	0.16196	4.95;2.36	5.62	-2.87	0.05700	Vault protein inter-alpha-trypsin (1);Vault protein inter-alpha-trypsin, metazoa (1);	6.159120	0.00166	N	0.000000	T	0.11879	0.0289	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.32370	T	0.25	6.1894	7.1891	0.25816	0.3584:0.2036:0.438:0.0	.	63	P19823	ITIH2_HUMAN	I	63;38	ENSP00000351190:M63I;ENSP00000388826:M38I	ENSP00000351190:M63I	M	+	3	0	ITIH2	7789199	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-0.702000	0.05056	-2.364000	0.00238	ATG	.	.		0.368	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ARHGAP21	57584	hgsc.bcm.edu	37	10	24889744	24889744	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr10:24889744G>C	ENST00000396432.2	-	14	3449	c.2963C>G	c.(2962-2964)cCc>cGc	p.P988R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P775R|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	987	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AACACTGATGGGCTGCTCTTC	0.458																																					p.P988R		Atlas-SNP	.											.	ARHGAP21	185	.	0			c.C2963G						.						87.0	85.0	86.0					10																	24889744		2202	4280	6482	SO:0001583	missense	57584	exon14			CTGATGGGCTGCT	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2963C>G	chr10.hg19:g.24889744G>C	ENSP00000379709:p.Pro988Arg	200.0	0.0		143.0	58.0	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	hg19	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281738	0.59758	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.67	4.76	0.60689	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.161907	0.56097	D	0.000034	D	0.82761	0.5107	M	0.69463	2.115	0.49299	D	0.999778	D;P	0.71674	0.998;0.932	D;P	0.71656	0.974;0.734	D	0.83710	0.0187	10	0.72032	D	0.01	.	11.2105	0.48795	0.1409:0.0:0.8591:0.0	.	978;987	F8W9U9;Q5T5U3	.;RHG21_HUMAN	R	988;775;978;988;823	ENSP00000379709:P988R;ENSP00000365604:P775R;ENSP00000365592:P978R;ENSP00000405018:P988R	ENSP00000365604:P775R	P	-	2	0	ARHGAP21	24929750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.407000	0.66363	2.679000	0.91253	0.655000	0.94253	CCC	.	.		0.458	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
SORCS1	114815	hgsc.bcm.edu	37	10	108339221	108339221	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr10:108339221C>T	ENST00000263054.6	-	25	3284	c.3277G>A	c.(3277-3279)Gac>Aac	p.D1093N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D1093N|SORCS1_ENST00000369698.1_Missense_Mutation_p.D628N	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1093					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGAGTGAGGTCCACCAGGGGG	0.522																																					p.D1093N		Atlas-SNP	.											SORCS1_ENST00000344440,NS,carcinoma,0,2	SORCS1	534	.	0			c.G3277A						.						80.0	65.0	70.0					10																	108339221		2203	4300	6503	SO:0001583	missense	114815	exon25			TGAGGTCCACCAG	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3277G>A	chr10.hg19:g.108339221C>T	ENSP00000263054:p.Asp1093Asn	82.0	0.0		62.0	17.0	NM_001206572	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	hg19	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.914391|4.914391	0.92178|0.92178	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440|ENST00000452214	T;T;T|.	0.23950|.	1.88;2.38;2.43|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69269|.	0.3092|.	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999;0.999|.	D;D;D;D;D|.	0.76071|.	0.971;0.987;0.987;0.971;0.987|.	T|.	0.62714|.	-0.6796|.	9|.	.|.	.|.	.|.	-29.1402|-29.1402	20.3167|20.3167	0.98654|0.98654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1093;1093;1093;1093;1093|.	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2|.	.;.;.;SORC1_HUMAN;.|.	N|X	628;1093;1093|107	ENSP00000358712:D628N;ENSP00000263054:D1093N;ENSP00000345964:D1093N|.	.|.	D|W	-|-	1|3	0|0	SORCS1|SORCS1	108329211|108329211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	7.487000|7.487000	0.81328|0.81328	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GAC|TGG	.	.		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
TACC2	10579	hgsc.bcm.edu	37	10	123844285	123844285	+	Missense_Mutation	SNP	C	C	T	rs201466757		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr10:123844285C>T	ENST00000369005.1	+	4	2610	c.2270C>T	c.(2269-2271)aCg>aTg	p.T757M	TACC2_ENST00000515273.1_Missense_Mutation_p.T757M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.T757M|TACC2_ENST00000334433.3_Missense_Mutation_p.T757M|TACC2_ENST00000453444.2_Missense_Mutation_p.T757M|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	757					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCTTGCTGACGTCCCCAGAT	0.602																																					p.T757M		Atlas-SNP	.											.	TACC2	271	.	0			c.C2270T						.						65.0	75.0	71.0					10																	123844285		2203	4300	6503	SO:0001583	missense	10579	exon4			TGCTGACGTCCCC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2270C>T	chr10.hg19:g.123844285C>T	ENSP00000358001:p.Thr757Met	223.0	0.0		90.0	5.0	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400186	0.42613	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03152	4.06;4.04;4.03;4.06;4.04	5.21	1.83	0.25207	.	0.662651	0.12568	N	0.457581	T	0.01489	0.0048	N	0.14661	0.345	0.09310	N	1	P;P;P	0.40211	0.707;0.707;0.707	B;B;B	0.23018	0.043;0.043;0.043	T	0.46205	-0.9208	10	0.23891	T	0.37	-0.1967	2.8057	0.05427	0.2014:0.4109:0.0:0.3877	.	757;757;757	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	M	757;757;757;757;757;747	ENSP00000358001:T757M;ENSP00000424467:T757M;ENSP00000427618:T757M;ENSP00000334280:T757M;ENSP00000395048:T757M	ENSP00000334280:T757M	T	+	2	0	TACC2	123834275	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.111000	0.10807	0.557000	0.29117	0.561000	0.74099	ACG	.	C|0.999;T|0.001		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TUBGCP2	10844	hgsc.bcm.edu	37	10	135094884	135094884	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr10:135094884G>A	ENST00000252936.3	-	16	2505	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	TUBGCP2_ENST00000417178.2_Silent_p.I692I|TUBGCP2_ENST00000543663.1_Silent_p.I850I|TUBGCP2_ENST00000368563.2_Silent_p.I822I|TUBGCP2_ENST00000368562.1_Silent_p.I415I			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	822					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CAAACTTGTTGATGGTGGCCT	0.617																																					p.I850I		Atlas-SNP	.											.	TUBGCP2	79	.	0			c.C2550T						.						124.0	102.0	110.0					10																	135094884		2203	4300	6503	SO:0001819	synonymous_variant	10844	exon18			CTTGTTGATGGTG	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2466C>T	chr10.hg19:g.135094884G>A		91.0	0.0		41.0	7.0	NM_001256617	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	hg19	CCDS7676.1																																																																																			.	.		0.617	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		
OR51L1	119682	hgsc.bcm.edu	37	11	5020444	5020444	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:5020444T>C	ENST00000321543.1	+	1	232	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTCCCTGTCTACACTTCC	0.458																																					p.S78P		Atlas-SNP	.											.	OR51L1	60	.	0			c.T232C						.						206.0	169.0	182.0					11																	5020444		2201	4298	6499	SO:0001583	missense	119682	exon1			TCCCTGTCTACAC	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.232T>C	chr11.hg19:g.5020444T>C	ENSP00000322156:p.Ser78Pro	74.0	0.0		94.0	43.0	NM_001004755	Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	hg19	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284443	0.40394	.	.	ENSG00000176798	ENST00000321543	T	0.00912	5.55	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000513	T	0.08492	0.0211	M	0.93197	3.39	0.24052	N	0.996046	D	0.71674	0.998	D	0.75484	0.986	T	0.10965	-1.0607	10	0.52906	T	0.07	.	14.7065	0.69194	0.0:0.0:0.0:1.0	.	78	Q8NGJ5	O51L1_HUMAN	P	78	ENSP00000322156:S78P	ENSP00000322156:S78P	S	+	1	0	OR51L1	4977020	0.000000	0.05858	0.780000	0.31762	0.520000	0.34377	0.507000	0.22675	2.340000	0.79590	0.528000	0.53228	TCT	.	.		0.458	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
ZDHHC13	54503	hgsc.bcm.edu	37	11	19170829	19170829	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:19170829T>C	ENST00000446113.2	+	5	591	c.470T>C	c.(469-471)gTa>gCa	p.V157A	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.V27A|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	157					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CACCTGGCAGTATTGTTTCAA	0.413																																					p.V157A		Atlas-SNP	.											.	ZDHHC13	40	.	0			c.T470C						.						84.0	75.0	78.0					11																	19170829		1901	4116	6017	SO:0001583	missense	54503	exon5			TGGCAGTATTGTT	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.470T>C	chr11.hg19:g.19170829T>C	ENSP00000400113:p.Val157Ala	67.0	0.0		61.0	19.0	NM_019028	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	hg19	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606828	0.46527	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.64618	-0.11;0.33	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.055223	0.64402	D	0.000001	T	0.56673	0.2001	N	0.03115	-0.41	0.50313	D	0.999864	D	0.67145	0.996	D	0.65140	0.932	T	0.62277	-0.6888	9	.	.	.	-0.2223	15.7882	0.78326	0.0:0.0:0.0:1.0	.	157	Q8IUH4	ZDH13_HUMAN	A	157;27	ENSP00000400113:V157A;ENSP00000382288:V27A	.	V	+	2	0	ZDHHC13	19127405	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.967000	0.70403	2.205000	0.71048	0.455000	0.32223	GTA	.	.		0.413	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028	
SLC22A8	9376	hgsc.bcm.edu	37	11	62760762	62760762	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:62760762C>T	ENST00000336232.2	-	11	1711	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	SLC22A8_ENST00000430500.2_Missense_Mutation_p.A526T|SLC22A8_ENST00000535878.1_Missense_Mutation_p.A403T|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000545207.1_Missense_Mutation_p.A435T|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	526				A -> T (in Ref. 3; BAG60589). {ECO:0000305}.	glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCTGGGAGGCCTTTTCCACC	0.622																																					p.A526T		Atlas-SNP	.											.	SLC22A8	60	.	0			c.G1576A						.						61.0	60.0	60.0					11																	62760762		2201	4298	6499	SO:0001583	missense	9376	exon11			GGGAGGCCTTTTC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1576G>A	chr11.hg19:g.62760762C>T	ENSP00000337335:p.Ala526Thr	73.0	0.0		76.0	18.0	NM_001184732	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	hg19	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298422	0.23650	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500	T;T;T;T	0.66638	-0.17;-0.22;-0.15;-0.17	5.36	4.44	0.53790	.	0.484707	0.20326	N	0.094524	T	0.43322	0.1242	N	0.08118	0	0.09310	N	1	B	0.29955	0.263	B	0.29598	0.104	T	0.26121	-1.0112	10	0.19590	T	0.45	.	10.4805	0.44691	0.0:0.9095:0.0:0.0905	.	526	Q8TCC7	S22A8_HUMAN	T	526;512;435;403;526	ENSP00000337335:A526T;ENSP00000441658:A435T;ENSP00000443368:A403T;ENSP00000398548:A526T	ENSP00000337335:A526T	A	-	1	0	SLC22A8	62517338	0.000000	0.05858	0.484000	0.27391	0.467000	0.32768	-0.107000	0.10873	1.390000	0.46547	0.561000	0.74099	GCC	.	.		0.622	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	
PPFIA1	8500	hgsc.bcm.edu	37	11	70201848	70201848	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:70201848A>T	ENST00000253925.7	+	18	2634	c.2419A>T	c.(2419-2421)Att>Ttt	p.I807F	AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.I807F|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	807					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TAAGTCCTCCATTGGCCGCTT	0.537																																					p.I807F		Atlas-SNP	.											.	PPFIA1	114	.	0			c.A2419T						.						100.0	97.0	98.0					11																	70201848		2200	4294	6494	SO:0001583	missense	8500	exon18			TCCTCCATTGGCC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2419A>T	chr11.hg19:g.70201848A>T	ENSP00000253925:p.Ile807Phe	201.0	0.0		125.0	17.0	NM_177423	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	hg19	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.579215|4.579215	0.86645|0.86645	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000530798|ENST00000253925;ENST00000389547;ENST00000544950	.|T;T	.|0.26810	.|1.71;1.71	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.067147	.|0.64402	.|U	.|0.000020	T|T	0.52075|0.52075	0.1712|0.1712	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.995	.|D;D	.|0.71414	.|0.973;0.92	T|T	0.58059|0.58059	-0.7703|-0.7703	5|10	.|0.87932	.|D	.|0	.|.	15.3826|15.3826	0.74673|0.74673	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|807;807	.|Q13136;Q13136-2	.|LIPA1_HUMAN;.	L|F	199|807;807;304	.|ENSP00000253925:I807F;ENSP00000374198:I807F	.|ENSP00000253925:I807F	H|I	+|+	2|1	0|0	PPFIA1|PPFIA1	69879496|69879496	1.000000|1.000000	0.71417|0.71417	0.872000|0.872000	0.34217|0.34217	0.442000|0.442000	0.32017|0.32017	5.830000|5.830000	0.69324|0.69324	2.106000|2.106000	0.64143|0.64143	0.482000|0.482000	0.46254|0.46254	CAT|ATT	.	.		0.537	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
TMEM135	65084	hgsc.bcm.edu	37	11	87032351	87032351	+	Silent	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:87032351A>T	ENST00000305494.5	+	15	1392	c.1353A>T	c.(1351-1353)ccA>ccT	p.P451P	TMEM135_ENST00000340353.7_Silent_p.P429P|TMEM135_ENST00000532959.1_Silent_p.P322P|TMEM135_ENST00000535167.1_Silent_p.P312P	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	451					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGTAACACCAGAGTTGCCCA	0.398																																					p.P451P		Atlas-SNP	.											.	TMEM135	40	.	0			c.A1353T						.						103.0	98.0	100.0					11																	87032351		2201	4299	6500	SO:0001819	synonymous_variant	65084	exon15			AACACCAGAGTTG	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1353A>T	chr11.hg19:g.87032351A>T		63.0	0.0		84.0	15.0	NM_022918	Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	hg19	CCDS8280.1																																																																																			.	.		0.398	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
MMP3	4314	hgsc.bcm.edu	37	11	102713311	102713311	+	Splice_Site	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:102713311C>A	ENST00000299855.5	-	3	607		c.e3-1			NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)						cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATTCACAATCCTGTAGGAGAA	0.378																																					.		Atlas-SNP	.											MMP3,NS,carcinoma,0,1	MMP3	60	.	0			c.351-1G>T						.						90.0	92.0	91.0					11																	102713311		2203	4299	6502	SO:0001630	splice_region_variant	4314	exon4			ACAATCCTGTAGG	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.351-1G>T	chr11.hg19:g.102713311C>A		73.0	0.0		101.0	29.0	NM_002422	B2R8B8|Q3B7S0|Q6GRF8	Splice_Site	SNP	ENST00000299855.5	hg19	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397726	0.83120	.	.	ENSG00000149968	ENST00000299855	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMP3	102218521	1.000000	0.71417	0.980000	0.43619	0.909000	0.53808	7.792000	0.85828	2.937000	0.99478	0.650000	0.86243	.	.	.		0.378	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	Intron
B4GALNT3	283358	hgsc.bcm.edu	37	12	674565	674565	+	IGR	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:674565G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000397265.3_Missense_Mutation_p.R82W|NINJ2_ENST00000305108.4_Missense_Mutation_p.R135W|NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000433832.2_3'UTR|NINJ2_ENST00000542920.1_Missense_Mutation_p.R53W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGGTTCAGCCGTGCTGCAGGG	0.567																																					p.R135W		Atlas-SNP	.											NINJ2,colon,carcinoma,+2,2	NINJ2	19	.	0			c.C403T						.						114.0	105.0	108.0					12																	674565		2203	4300	6503	SO:0001628	intergenic_variant	4815	exon3			TCAGCCGTGCTGC	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		chr12.hg19:g.674565G>A		112.0	1.0		42.0	14.0	NM_016533	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328066	0.60743	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920	T;T;T	0.46451	0.87;0.87;0.87	4.88	3.95	0.45737	.	0.284575	0.33631	N	0.004713	T	0.64000	0.2559	M	0.85197	2.74	0.25407	N	0.988397	D	0.71674	0.998	P	0.60886	0.88	T	0.62315	-0.6880	10	0.72032	D	0.01	-4.1378	13.9554	0.64144	0.0:0.0:0.842:0.158	.	89	Q9NZG7	NINJ2_HUMAN	W	135;82;53	ENSP00000307552:R135W;ENSP00000380435:R82W;ENSP00000438831:R53W	ENSP00000307552:R135W	R	-	1	2	NINJ2	544826	0.050000	0.20438	0.632000	0.29296	0.771000	0.43674	1.790000	0.38734	0.993000	0.38866	0.491000	0.48974	CGG	.	.		0.567	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
LPCAT3	10162	hgsc.bcm.edu	37	12	7087833	7087833	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:7087833G>A	ENST00000261407.4	-	8	890	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	269					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TACATGCAGCGGAACCAGAAG	0.453																																					p.R269C		Atlas-SNP	.											.	LPCAT3	33	.	0			c.C805T						.						94.0	83.0	87.0					12																	7087833		2203	4300	6503	SO:0001583	missense	10162	exon8			TGCAGCGGAACCA	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.805C>T	chr12.hg19:g.7087833G>A	ENSP00000261407:p.Arg269Cys	162.0	0.0		111.0	25.0	NM_005768	B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	hg19	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338122	0.81911	.	.	ENSG00000111684	ENST00000261407	T	0.75050	-0.9	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88735	0.6517	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.90395	0.4398	10	0.87932	D	0	-6.6008	19.5024	0.95100	0.0:0.0:1.0:0.0	.	269	Q6P1A2	MBOA5_HUMAN	C	269	ENSP00000261407:R269C	ENSP00000261407:R269C	R	-	1	0	LPCAT3	6958094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.186000	0.77722	2.607000	0.88179	0.655000	0.94253	CGC	.	.		0.453	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768	
KRT2	3849	hgsc.bcm.edu	37	12	53040621	53040621	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:53040621G>A	ENST00000309680.3	-	7	1393	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	458	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGCAGCAGCCGCGCCAAGTCC	0.622																																					p.R458W		Atlas-SNP	.											.	KRT2	94	.	0			c.C1372T						.						101.0	89.0	93.0					12																	53040621		2203	4300	6503	SO:0001583	missense	3849	exon7			GCAGCCGCGCCAA		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1372C>T	chr12.hg19:g.53040621G>A	ENSP00000310861:p.Arg458Trp	62.0	0.0		48.0	12.0	NM_000423	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	hg19	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980621	0.74474	.	.	ENSG00000172867	ENST00000309680	T	0.71103	-0.54	4.48	2.63	0.31362	Filament (1);	.	.	.	.	D	0.84415	0.5467	M	0.89287	3.02	0.36609	D	0.875113	D	0.89917	1.0	D	0.85130	0.997	D	0.87279	0.2291	9	0.87932	D	0	.	10.4968	0.44783	0.159:0.0:0.841:0.0	.	458	P35908	K22E_HUMAN	W	458	ENSP00000310861:R458W	ENSP00000310861:R458W	R	-	1	2	KRT2	51326888	0.004000	0.15560	0.997000	0.53966	0.957000	0.61999	0.300000	0.19156	0.631000	0.30412	0.563000	0.77884	CGG	.	.		0.622	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423	
AMHR2	269	hgsc.bcm.edu	37	12	53819694	53819694	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:53819694G>A	ENST00000257863.4	+	6	923	c.843G>A	c.(841-843)ctG>ctA	p.L281L	AMHR2_ENST00000379791.3_Silent_p.L281L|AMHR2_ENST00000550311.1_Silent_p.L281L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TACTGGAACTGCATCCCAAGG	0.577																																					p.L281L		Atlas-SNP	.											.	AMHR2	61	.	0			c.G843A						.						38.0	39.0	39.0					12																	53819694		2203	4300	6503	SO:0001819	synonymous_variant	269	exon6			GGAACTGCATCCC	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.843G>A	chr12.hg19:g.53819694G>A		50.0	0.0		47.0	5.0	NM_020547	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	hg19	CCDS8858.1																																																																																			.	.		0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547	
NACA	4666	hgsc.bcm.edu	37	12	57114040	57114040	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:57114040T>C	ENST00000454682.1	-	3	1555	c.1274A>G	c.(1273-1275)tAt>tGt	p.Y425C	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.Y425C	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	425	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACTAAAGGATAATGATAAGT	0.458			T	BCL6	NHL																																p.Y425C		Atlas-SNP	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	131	.	0			c.A1274G						.						140.0	127.0	131.0					12																	57114040		1568	3582	5150	SO:0001583	missense	4666	exon3			AAAGGATAATGAT	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1274A>G	chr12.hg19:g.57114040T>C	ENSP00000403817:p.Tyr425Cys	110.0	0.0		102.0	22.0	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	hg19		.	.	.	.	.	.	.	.	.	.	T	10.09	1.254109	0.22965	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.46063	0.88;0.96	3.53	2.23	0.28157	.	.	.	.	.	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	P;P	0.43094	0.799;0.706	B;B	0.40982	0.288;0.345	T	0.06197	-1.0840	9	0.62326	D	0.03	.	6.3344	0.21289	0.2199:0.0:0.0:0.7801	.	425;425	E9PAV3;F8VU71	.;.	C	425	ENSP00000403817:Y425C;ENSP00000448035:Y425C	ENSP00000403817:Y425C	Y	-	2	0	NACA	55400307	0.139000	0.22563	0.451000	0.26982	0.095000	0.18619	0.368000	0.20399	1.401000	0.46761	0.156000	0.16432	TAT	.	.		0.458	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
GRIP1	23426	hgsc.bcm.edu	37	12	66838478	66838478	+	Missense_Mutation	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:66838478T>A	ENST00000398016.3	-	12	1485	c.1417A>T	c.(1417-1419)Atg>Ttg	p.M473L	GRIP1_ENST00000286445.7_Missense_Mutation_p.M525L|GRIP1_ENST00000359742.4_Missense_Mutation_p.M525L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGATGGCCATCACTCTGTCT	0.458																																					p.M473L		Atlas-SNP	.											.	GRIP1	106	.	0			c.A1417T						.						130.0	124.0	126.0					12																	66838478		1958	4140	6098	SO:0001583	missense	23426	exon12			TGGCCATCACTCT	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1417A>T	chr12.hg19:g.66838478T>A	ENSP00000381098:p.Met473Leu	183.0	0.0		133.0	12.0	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	hg19	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.531|2.531	-0.308479|-0.308479	0.05458|0.05458	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.19105|.	2.17;2.17;2.17;2.17;2.17;2.17|.	5.57|5.57	4.43|4.43	0.53597|0.53597	PDZ/DHR/GLGF (4);|.	0.250420|.	0.46145|.	N|.	0.000306|.	T|.	0.03739|.	0.0106|.	N|N	0.00025|0.00025	-2.675|-2.675	0.27379|0.27379	N|N	0.955478|0.955478	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|.	0.28235|.	-1.0050|.	9|.	.|.	.|.	.|.	-8.9594|-8.9594	6.9315|6.9315	0.24444|0.24444	0.0:0.0792:0.3022:0.6186|0.0:0.0792:0.3022:0.6186	.|.	473;525;473;525|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	L|C	473;525;525;473;417;365|339	ENSP00000381098:M473L;ENSP00000352780:M525L;ENSP00000286445:M525L;ENSP00000446047:M473L;ENSP00000446024:M417L;ENSP00000446011:M365L|.	.|.	M|X	-|-	1|3	0|0	GRIP1|GRIP1	65124745|65124745	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.385000|0.385000	0.20685|0.20685	0.956000|0.956000	0.37904|0.37904	0.441000|0.441000	0.28932|0.28932	ATG|TGA	.	.		0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
OTOGL	283310	hgsc.bcm.edu	37	12	80707414	80707414	+	Splice_Site	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:80707414T>C	ENST00000547103.1	+	30	3586		c.e30+2		OTOGL_ENST00000458043.2_Splice_Site			Q3ZCN5	OTOGL_HUMAN	otogelin-like						L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTTTGTTGTAAGTACCCTA	0.363																																					.		Atlas-SNP	.											.	OTOGL	235	.	0			c.3580+2T>C						.						161.0	170.0	167.0					12																	80707414		2149	4262	6411	SO:0001630	splice_region_variant	283310	exon30			TTGTTGTAAGTAC	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3580+2T>C	chr12.hg19:g.80707414T>C		103.0	0.0		76.0	22.0	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	hg19		.	.	.	.	.	.	.	.	.	.	T	18.64	3.667181	0.67814	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1894	0.81975	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	OTOGL	79231545	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	7.588000	0.82629	2.217000	0.71921	0.528000	0.53228	.	.	.		0.363	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Intron
TMEM132D	121256	hgsc.bcm.edu	37	12	130185157	130185157	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:130185157C>T	ENST00000422113.2	-	2	492	c.166G>A	c.(166-168)Gcg>Acg	p.A56T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	56					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGACGTCCGCGTTGTTGATG	0.552																																					p.A56T		Atlas-SNP	.											TMEM132D,colon,carcinoma,0,1	TMEM132D	299	.	0			c.G166A						.						93.0	70.0	77.0					12																	130185157		2203	4300	6503	SO:0001583	missense	121256	exon2			CGTCCGCGTTGTT	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.166G>A	chr12.hg19:g.130185157C>T	ENSP00000408581:p.Ala56Thr	100.0	0.0		84.0	18.0	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	hg19	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323844	0.41096	.	.	ENSG00000151952	ENST00000422113	T	0.14640	2.49	5.33	4.44	0.53790	.	0.323515	0.26463	N	0.024223	T	0.27205	0.0667	L	0.59436	1.845	0.41431	D	0.987863	D	0.76494	0.999	P	0.56865	0.808	T	0.01621	-1.1310	9	.	.	.	-41.0693	14.1315	0.65257	0.0:0.9274:0.0:0.0726	.	56	Q14C87	T132D_HUMAN	T	56	ENSP00000408581:A56T	.	A	-	1	0	TMEM132D	128751110	1.000000	0.71417	0.029000	0.17559	0.824000	0.46624	3.952000	0.56691	1.228000	0.43614	0.555000	0.69702	GCG	.	.		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
MTUS2	23281	hgsc.bcm.edu	37	13	29600032	29600032	+	Silent	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr13:29600032C>T	ENST00000431530.3	+	1	1285	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	399						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAAACAGGGCTCTGCTTCCT	0.547																																					p.G409G		Atlas-SNP	.											.	MTUS2	279	.	0			c.C1227T						.						32.0	35.0	34.0					13																	29600032		1928	4151	6079	SO:0001819	synonymous_variant	23281	exon1			ACAGGGCTCTGCT	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1227C>T	chr13.hg19:g.29600032C>T		221.0	0.0		195.0	93.0	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	hg19	CCDS45022.1																																																																																			.	.		0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
PCDH8	5100	hgsc.bcm.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711																																					p.S145S	GBM(36;25 841 9273 49207)	Atlas-SNP	.											.	PCDH8	95	.	1	Substitution - coding silent(1)	lung(1)	c.C435T						.						28.0	28.0	28.0					13																	53422137		2193	4292	6485	SO:0001819	synonymous_variant	5100	exon1			ACCCTCGGACACC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.435C>T	chr13.hg19:g.53422137G>A		127.0	0.0		68.0	11.0	NM_002590	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	hg19	CCDS9438.1																																																																																			.	.		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
AKAP6	9472	hgsc.bcm.edu	37	14	33046347	33046347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr14:33046347G>T	ENST00000280979.4	+	5	2538	c.2368G>T	c.(2368-2370)Gaa>Taa	p.E790*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E790*|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.E790*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	790					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAACTGGATGAATTCATTCA	0.378																																					p.E790X	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.G2368T						.						91.0	91.0	91.0					14																	33046347		2203	4300	6503	SO:0001587	stop_gained	9472	exon5			CTGGATGAATTCA	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2368G>T	chr14.hg19:g.33046347G>T	ENSP00000280979:p.Glu790*	131.0	0.0		146.0	26.0	NM_004274	A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	41	8.601446	0.98881	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	.	.	.	4.96	4.96	0.65561	.	0.145097	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5508	11.6851	0.51481	0.0819:0.0:0.9181:0.0	.	.	.	.	X	790	.	ENSP00000280979:E790X	E	+	1	0	AKAP6	32116098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.474000	0.73578	2.272000	0.75746	0.563000	0.77884	GAA	.	.		0.378	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
ADCK1	57143	hgsc.bcm.edu	37	14	78288800	78288800	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr14:78288800A>G	ENST00000238561.5	+	3	257	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	Y_RNA_ENST00000362570.1_RNA|ADCK1_ENST00000341211.5_Missense_Mutation_p.Y53C	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	53						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGTTACGACTACCTCACTTCC	0.507																																					p.Y53C		Atlas-SNP	.											.	ADCK1	81	.	0			c.A158G						.						175.0	131.0	146.0					14																	78288800		2203	4300	6503	SO:0001583	missense	57143	exon3			ACGACTACCTCAC	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.158A>G	chr14.hg19:g.78288800A>G	ENSP00000238561:p.Tyr53Cys	61.0	0.0		57.0	14.0	NM_020421	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	hg19	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056542	0.76074	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;D;T	0.84516	-0.72;-1.86;0.16	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.91972	3.26	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94792	0.7963	10	0.87932	D	0	-15.9498	14.0887	0.64975	1.0:0.0:0.0:0.0	.	53;53	Q9UIE6;Q86TW2-2	.;.	C	53	ENSP00000238561:Y53C;ENSP00000451549:Y53C;ENSP00000339663:Y53C	ENSP00000238561:Y53C	Y	+	2	0	ADCK1	77358553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.983000	0.70540	2.302000	0.77476	0.533000	0.62120	TAC	.	.		0.507	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
TRPM1	4308	hgsc.bcm.edu	37	15	31360290	31360290	+	Silent	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:31360290G>A	ENST00000256552.6	-	5	432	c.285C>T	c.(283-285)atC>atT	p.I95I	TRPM1_ENST00000542188.1_Silent_p.I112I|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I73I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGATACACGGATATACTGTG	0.493																																					p.I112I		Atlas-SNP	.											.	TRPM1	183	.	0			c.C336T						.						89.0	91.0	90.0					15																	31360290		2051	4197	6248	SO:0001819	synonymous_variant	4308	exon4			TACACGGATATAC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.285C>T	chr15.hg19:g.31360290G>A		49.0	0.0		43.0	12.0	NM_001252020		Silent	SNP	ENST00000256552.6	hg19	CCDS58346.1																																																																																			.	.		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
DUOX1	53905	hgsc.bcm.edu	37	15	45443417	45443417	+	Silent	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:45443417C>T	ENST00000321429.4	+	24	3392	c.2985C>T	c.(2983-2985)ccC>ccT	p.P995P	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.P641P|DUOX1_ENST00000389037.3_Silent_p.P995P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	995	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGACCCTCCCCAGGAGATTC	0.537																																					p.P995P		Atlas-SNP	.											.	DUOX1	125	.	0			c.C2985T						.						116.0	118.0	117.0					15																	45443417		2198	4298	6496	SO:0001819	synonymous_variant	53905	exon24			CCCTCCCCAGGAG	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2985C>T	chr15.hg19:g.45443417C>T		118.0	0.0		72.0	36.0	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	hg19	CCDS32221.1																																																																																			.	.		0.537	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
TEX9	374618	hgsc.bcm.edu	37	15	56683537	56683537	+	Silent	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:56683537T>A	ENST00000352903.2	+	7	516	c.492T>A	c.(490-492)atT>atA	p.I164I	TEX9_ENST00000537232.1_Silent_p.I89I|TEX9_ENST00000561221.2_Silent_p.I164I|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000558083.2_Silent_p.I89I	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	164										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTAGCAAAATTGAAGGGCAAC	0.353																																					p.I164I		Atlas-SNP	.											.	TEX9	29	.	0			c.T492A						.						94.0	96.0	95.0					15																	56683537		2192	4292	6484	SO:0001819	synonymous_variant	374618	exon7			CAAAATTGAAGGG	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.492T>A	chr15.hg19:g.56683537T>A		233.0	0.0		307.0	59.0	NM_198524	B4DH73	Silent	SNP	ENST00000352903.2	hg19	CCDS10157.1																																																																																			.	.		0.353	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524	
SMAD6	4091	hgsc.bcm.edu	37	15	67073814	67073814	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:67073814C>T	ENST00000288840.5	+	4	2463	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	SMAD6_ENST00000338426.4_Missense_Mutation_p.R217W	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	478	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CTGCTACTCCCGGCAGTTCAT	0.731																																					p.R478W	Esophageal Squamous(179;72 2004 22333 39628 47290)	Atlas-SNP	.											.	SMAD6	14	.	0			c.C1432T						.						10.0	14.0	13.0					15																	67073814		2140	4244	6384	SO:0001583	missense	4091	exon4			TACTCCCGGCAGT	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1432C>T	chr15.hg19:g.67073814C>T	ENSP00000288840:p.Arg478Trp	68.0	0.0		54.0	8.0	NM_005585	A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	hg19	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507623	0.64410	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.99698	-6.44;-6.44	5.71	0.994	0.19832	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98012	1.0366	10	0.87932	D	0	.	14.829	0.70135	0.6061:0.3939:0.0:0.0	.	217;478	O43541-2;O43541	.;SMAD6_HUMAN	W	478;217	ENSP00000288840:R478W;ENSP00000345054:R217W	ENSP00000288840:R478W	R	+	1	2	SMAD6	64860868	0.571000	0.26659	0.962000	0.40283	0.998000	0.95712	1.286000	0.33273	0.274000	0.22072	0.561000	0.74099	CGG	.	.		0.731	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585	
UACA	55075	hgsc.bcm.edu	37	15	70959216	70959216	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:70959216T>C	ENST00000322954.6	-	16	3992	c.3807A>G	c.(3805-3807)atA>atG	p.I1269M	UACA_ENST00000539319.1_Missense_Mutation_p.I1160M|UACA_ENST00000560441.1_Missense_Mutation_p.I1254M|UACA_ENST00000379983.2_Missense_Mutation_p.I1256M	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1269					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTTTGCAGATATTTCCTTCT	0.358																																					p.I1269M		Atlas-SNP	.											.	UACA	235	.	0			c.A3807G						.						177.0	168.0	171.0					15																	70959216		2199	4298	6497	SO:0001583	missense	55075	exon16			TGCAGATATTTCC	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3807A>G	chr15.hg19:g.70959216T>C	ENSP00000314556:p.Ile1269Met	75.0	0.0		93.0	20.0	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	hg19	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	6.180	0.401451	0.11696	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34275	1.37;1.39;1.87	5.7	-11.4	0.00090	.	0.673298	0.13019	N	0.420253	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30542	0.284;0.138;0.138;0.217	B;B;B;B	0.28916	0.096;0.044;0.044;0.096	T	0.09335	-1.0679	10	0.46703	T	0.11	-0.3482	1.314	0.02103	0.2079:0.4102:0.2358:0.1461	.	1160;1269;1269;1256	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	M	1269;1256;1160	ENSP00000314556:I1269M;ENSP00000369319:I1256M;ENSP00000438667:I1160M	ENSP00000314556:I1269M	I	-	3	3	UACA	68746270	0.000000	0.05858	0.000000	0.03702	0.538000	0.34931	-4.194000	0.00276	-2.183000	0.00763	-0.899000	0.02877	ATA	.	.		0.358	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
C15orf39	56905	hgsc.bcm.edu	37	15	75500060	75500060	+	Silent	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:75500060C>T	ENST00000360639.2	+	2	1991	c.1671C>T	c.(1669-1671)ggC>ggT	p.G557G	C15orf39_ENST00000394987.4_Silent_p.G557G|C15orf39_ENST00000567617.1_Silent_p.G557G			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	557						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCAGGAGGGCCCCTCAGGGA	0.617																																					p.G557G		Atlas-SNP	.											.	C15orf39	64	.	0			c.C1671T						.						22.0	24.0	23.0					15																	75500060		2196	4293	6489	SO:0001819	synonymous_variant	56905	exon2			GGAGGGCCCCTCA	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1671C>T	chr15.hg19:g.75500060C>T		149.0	0.0		70.0	32.0	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	hg19	CCDS10276.1																																																																																			.	.		0.617	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
EFTUD1	79631	hgsc.bcm.edu	37	15	82512452	82512452	+	Missense_Mutation	SNP	T	T	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:82512452T>G	ENST00000268206.7	-	13	1579	c.1411A>C	c.(1411-1413)Att>Ctt	p.I471L	EFTUD1_ENST00000359445.3_Missense_Mutation_p.I420L	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	471					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CATGTTTCAATGGCACTCCCA	0.498																																					p.I471L		Atlas-SNP	.											.	EFTUD1	74	.	0			c.A1411C						.						142.0	137.0	139.0					15																	82512452		1931	4135	6066	SO:0001583	missense	79631	exon13			TTTCAATGGCACT	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1411A>C	chr15.hg19:g.82512452T>G	ENSP00000268206:p.Ile471Leu	84.0	0.0		87.0	37.0	NM_024580	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	hg19	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	t	1.422	-0.572524	0.03882	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.61859	0.07;0.34	4.29	1.39	0.22231	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	2.054490	0.02795	N	0.122479	T	0.23886	0.0578	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19614	-1.0300	10	0.22706	T	0.39	-10.7283	3.8643	0.09010	0.3401:0.0:0.4888:0.1711	.	420;471	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	L	471;420	ENSP00000268206:I471L;ENSP00000352418:I420L	ENSP00000268206:I471L	I	-	1	0	EFTUD1	80299507	0.002000	0.14202	0.012000	0.15200	0.043000	0.13939	1.070000	0.30653	0.567000	0.29293	-0.207000	0.12724	ATT	.	.		0.498	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580	
SLX4	84464	hgsc.bcm.edu	37	16	3658812	3658812	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr16:3658812T>C	ENST00000294008.3	-	2	794	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	52	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAGAGTTCTTTAAAGTCCTCA	0.473								Direct reversal of damage																													p.K52E		Atlas-SNP	.											.	SLX4	173	.	0			c.A154G						.						130.0	121.0	124.0					16																	3658812		2197	4300	6497	SO:0001583	missense	84464	exon2			GTTCTTTAAAGTC	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.154A>G	chr16.hg19:g.3658812T>C	ENSP00000294008:p.Lys52Glu	135.0	0.0		88.0	18.0	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	hg19	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388544	0.61956	.	.	ENSG00000188827	ENST00000294008	T	0.01464	4.86	5.52	3.2	0.36748	.	0.289012	0.25717	N	0.028779	T	0.01905	0.0060	N	0.22421	0.69	0.22034	N	0.999402	P	0.48407	0.91	B	0.42462	0.388	T	0.47837	-0.9086	10	0.59425	D	0.04	.	11.8887	0.52616	0.0:0.0:0.2758:0.7242	.	52	Q8IY92	SLX4_HUMAN	E	52	ENSP00000294008:K52E	ENSP00000294008:K52E	K	-	1	0	SLX4	3598813	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	2.367000	0.44213	0.427000	0.26145	0.533000	0.62120	AAA	.	.		0.473	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
C16orf93	90835	hgsc.bcm.edu	37	16	30772547	30772547	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr16:30772547G>A	ENST00000543610.1	-	2	1169	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S	RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000541260.1_Missense_Mutation_p.P70S|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.P70S|RNF40_ENST00000563683.1_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	70										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CGGGGCAGCGGCGGCTGCGGA	0.552																																					p.P70S		Atlas-SNP	.											.	C16orf93	33	.	0			c.C208T						.						34.0	38.0	37.0					16																	30772547		2197	4298	6495	SO:0001583	missense	90835	exon2			GCAGCGGCGGCTG	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.208C>T	chr16.hg19:g.30772547G>A	ENSP00000437532:p.Pro70Ser	271.0	0.0		146.0	32.0	NM_001195620	A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	ENST00000543610.1	hg19	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615554	0.87359	.	.	ENSG00000196118	ENST00000354963;ENST00000543610;ENST00000545825	.	.	.	5.41	5.41	0.78517	.	0.074009	0.53938	D	0.000057	T	0.66177	0.2763	L	0.38531	1.155	0.39550	D	0.968956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.62905	-0.6755	9	0.32370	T	0.25	-31.6405	14.5573	0.68109	0.0:0.0:1.0:0.0	.	70;33;70	F5GX13;A1A4V9-2;A1A4V9	.;.;CP093_HUMAN	S	33;70;70	.	ENSP00000347050:P33S	P	-	1	0	C16orf93	30680048	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	4.594000	0.61041	2.815000	0.96918	0.561000	0.74099	CCG	.	.		0.552	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979	
PYDC1	260434	hgsc.bcm.edu	37	16	31226233	31226233	+	IGR	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr16:31226233C>T	ENST00000302964.3	-	0	813				TRIM72_ENST00000322122.3_Silent_p.A58A|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCTGCCAGGCCCCCACGCGGC	0.746																																					p.A58A		Atlas-SNP	.											.	TRIM72	32	.	0			c.C174T						.						2.0	3.0	3.0					16																	31226233		1673	3378	5051	SO:0001628	intergenic_variant	493829	exon2			CCAGGCCCCCACG		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		chr16.hg19:g.31226233C>T		39.0	0.0		25.0	6.0	NM_001008274	B2R8L4|Q8NFP8	Silent	SNP	ENST00000302964.3	hg19	CCDS10710.1																																																																																			.	.		0.746	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901	
ABCC11	85320	hgsc.bcm.edu	37	16	48258272	48258272	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr16:48258272A>G	ENST00000394747.1	-	4	813	c.464T>C	c.(463-465)aTg>aCg	p.M155T	ABCC11_ENST00000537808.1_Missense_Mutation_p.M155T|ABCC11_ENST00000353782.5_Missense_Mutation_p.M155T|ABCC11_ENST00000356608.2_Missense_Mutation_p.M155T|ABCC11_ENST00000394748.1_Missense_Mutation_p.M155T	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	155					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GAACCTCAGCATCACCAGAAG	0.493																																					p.M155T		Atlas-SNP	.											.	ABCC11	177	.	0			c.T464C						.						128.0	109.0	115.0					16																	48258272		2200	4300	6500	SO:0001583	missense	85320	exon4			CTCAGCATCACCA	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.464T>C	chr16.hg19:g.48258272A>G	ENSP00000378230:p.Met155Thr	91.0	0.0		71.0	8.0	NM_033151	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	hg19	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559711	0.27827	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.45	4.45	0.53987	ABC transporter, transmembrane domain, type 1 (1);	0.325266	0.32444	N	0.006082	T	0.34483	0.0899	L	0.45581	1.43	0.20403	N	0.999904	P;P	0.41910	0.764;0.457	B;B	0.42738	0.304;0.396	T	0.27331	-1.0077	10	0.59425	D	0.04	-19.2298	10.3605	0.43991	1.0:0.0:0.0:0.0	.	155;155	Q96J66-2;Q96J66	.;ABCCB_HUMAN	T	155	ENSP00000311326:M155T;ENSP00000349017:M155T;ENSP00000378231:M155T;ENSP00000378230:M155T;ENSP00000438530:M155T	ENSP00000311326:M155T	M	-	2	0	ABCC11	46815773	0.338000	0.24775	0.850000	0.33497	0.149000	0.21700	1.681000	0.37618	1.753000	0.51906	0.377000	0.23210	ATG	.	.		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
ZNF19	7567	hgsc.bcm.edu	37	16	71512898	71512898	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr16:71512898G>C	ENST00000288177.5	-	4	299	c.44C>G	c.(43-45)aCc>aGc	p.T15S	ZNF19_ENST00000565100.2_Intron|AC010547.9_ENST00000561908.1_Missense_Mutation_p.T15S|ZNF19_ENST00000564230.1_Missense_Mutation_p.T15S|ZNF19_ENST00000567225.1_Missense_Mutation_p.T15S|ZNF19_ENST00000565637.1_5'UTR	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ATCCTCGAAGGTCACCATCTC	0.567																																					p.T15S		Atlas-SNP	.											.	ZNF19	46	.	0			c.C44G						.						95.0	91.0	93.0					16																	71512898		2198	4300	6498	SO:0001583	missense	7567	exon4			TCGAAGGTCACCA	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.44C>G	chr16.hg19:g.71512898G>C	ENSP00000288177:p.Thr15Ser	88.0	0.0		50.0	19.0	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	hg19	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676438	0.67928	.	.	ENSG00000157429	ENST00000288177	T	0.02631	4.22	3.0	3.0	0.34707	Krueppel-associated box (4);	0.227955	0.22658	N	0.057232	T	0.06142	0.0159	M	0.61703	1.905	0.24791	N	0.992756	P	0.47253	0.892	P	0.46253	0.509	T	0.11966	-1.0566	10	0.62326	D	0.03	.	12.243	0.54553	0.0:0.0:1.0:0.0	.	15	P17023	ZNF19_HUMAN	S	15	ENSP00000288177:T15S	ENSP00000288177:T15S	T	-	2	0	ZNF19	70070399	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	0.838000	0.27572	1.977000	0.57605	0.563000	0.77884	ACC	.	.		0.567	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
C17orf80	55028	hgsc.bcm.edu	37	17	71232524	71232524	+	Silent	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr17:71232524C>T	ENST00000535032.2	+	2	1016	c.903C>T	c.(901-903)acC>acT	p.T301T	C17orf80_ENST00000577615.1_Silent_p.T301T|C17orf80_ENST00000426147.2_Silent_p.T301T|C17orf80_ENST00000359042.2_Silent_p.T301T|C17orf80_ENST00000268942.8_Silent_p.T301T|C17orf80_ENST00000582793.1_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.T301T			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	301						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGGACTTACCCTGGGAGTAG	0.438																																					p.T301T		Atlas-SNP	.											.	C17orf80	37	.	0			c.C903T						.						68.0	63.0	65.0					17																	71232524		2203	4300	6503	SO:0001819	synonymous_variant	55028	exon3			ACTTACCCTGGGA	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.903C>T	chr17.hg19:g.71232524C>T		183.0	0.0		145.0	58.0	NM_001100621	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	hg19	CCDS11694.1																																																																																			.	.		0.438	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
RNMT	8731	hgsc.bcm.edu	37	18	13746225	13746225	+	Silent	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr18:13746225A>G	ENST00000383314.2	+	9	1386	c.1146A>G	c.(1144-1146)gcA>gcG	p.A382A	RNMT_ENST00000589866.1_Silent_p.A382A|RNMT_ENST00000262173.3_Silent_p.A382A|RNMT_ENST00000543302.2_Silent_p.A382A|RNMT_ENST00000592764.1_Silent_p.A382A|RNMT_ENST00000535051.1_Silent_p.A140A			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	382	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACAGAATGGCAAAGAAGTACA	0.303																																					p.A382A	GBM(29;474 594 19092 36647 41529)	Atlas-SNP	.											.	RNMT	42	.	0			c.A1146G						.						66.0	71.0	69.0					18																	13746225		2200	4298	6498	SO:0001819	synonymous_variant	8731	exon9			AATGGCAAAGAAG	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1146A>G	chr18.hg19:g.13746225A>G		817.0	0.0		599.0	97.0	NM_003799	B0YJ90|D3DUJ5|O94996|Q9UIJ9	Silent	SNP	ENST00000383314.2	hg19	CCDS11867.1																																																																																			.	.		0.303	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799	
AP3D1	8943	hgsc.bcm.edu	37	19	2108726	2108726	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:2108726C>T	ENST00000345016.5	-	29	3557	c.3326G>A	c.(3325-3327)cGc>cAc	p.R1109H	AP3D1_ENST00000350812.6_Missense_Mutation_p.R940H|AP3D1_ENST00000355272.6_Missense_Mutation_p.R1171H|AP3D1_ENST00000356926.4_Missense_Mutation_p.R1068H	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1109					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CTGGATGGAGCGGCTGTACAT	0.637																																					p.R1171H		Atlas-SNP	.											.	AP3D1	81	.	0			c.G3512A						.						31.0	40.0	37.0					19																	2108726		2131	4233	6364	SO:0001583	missense	8943	exon31			ATGGAGCGGCTGT	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3326G>A	chr19.hg19:g.2108726C>T	ENSP00000344055:p.Arg1109His	148.0	0.0		65.0	4.0	NM_001261826	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753710	0.69648	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.19938	2.11;2.63;2.6;2.14	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.39898	1.24	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.997;0.99;0.997;0.994	T	0.08994	-1.0695	10	0.52906	T	0.07	.	13.8204	0.63315	0.0:1.0:0.0:0.0	.	940;1171;1109;1068	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	H	1068;1109;1171;977;940	ENSP00000349398:R1068H;ENSP00000344055:R1109H;ENSP00000347416:R1171H;ENSP00000342321:R940H	ENSP00000341579:R977H	R	-	2	0	AP3D1	2059726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.372000	0.79612	2.052000	0.61016	0.561000	0.74099	CGC	.	.		0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		
EMR1	2015	hgsc.bcm.edu	37	19	6924851	6924851	+	Missense_Mutation	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:6924851T>C	ENST00000312053.4	+	15	1991	c.1954T>C	c.(1954-1956)Ttc>Ctc	p.F652L	EMR1_ENST00000381404.4_Missense_Mutation_p.F600L|EMR1_ENST00000381407.5_Missense_Mutation_p.F511L|EMR1_ENST00000450315.3_Missense_Mutation_p.F475L|EMR1_ENST00000250572.8_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	652					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAAGACTCTCTTCCTCGCCGG	0.567																																					p.F652L		Atlas-SNP	.											.	EMR1	153	.	0			c.T1954C						.						207.0	131.0	157.0					19																	6924851		2203	4300	6503	SO:0001583	missense	2015	exon15			ACTCTCTTCCTCG	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1954T>C	chr19.hg19:g.6924851T>C	ENSP00000311545:p.Phe652Leu	67.0	0.0		106.0	14.0	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	hg19	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794504	0.50102	.	.	ENSG00000174837	ENST00000312053;ENST00000381404;ENST00000381407;ENST00000450315	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	3.61	3.61	0.41365	GPCR, family 2-like (1);	.	.	.	.	T	0.55000	0.1893	L	0.49640	1.575	0.33527	D	0.593117	D;D;D;D	0.89917	0.997;0.994;1.0;0.999	D;D;D;D	0.87578	0.985;0.955;0.998;0.996	T	0.65721	-0.6099	9	0.87932	D	0	.	8.9222	0.35619	0.0:0.0:0.0:1.0	.	475;511;600;652	E7EPX9;B7Z486;E9PD45;Q14246	.;.;.;EMR1_HUMAN	L	652;600;511;475	ENSP00000311545:F652L;ENSP00000370811:F600L;ENSP00000370814:F511L;ENSP00000405974:F475L	ENSP00000311545:F652L	F	+	1	0	EMR1	6875851	1.000000	0.71417	0.947000	0.38551	0.053000	0.15095	5.786000	0.69006	1.402000	0.46780	0.533000	0.62120	TTC	.	.		0.567	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
ACTL9	284382	hgsc.bcm.edu	37	19	8807887	8807887	+	Missense_Mutation	SNP	A	A	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:8807887A>T	ENST00000324436.3	-	1	1285	c.1165T>A	c.(1165-1167)Tcc>Acc	p.S389T		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	389						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCGCGCAGGGAGGCCAGGATG	0.647																																					p.S389T		Atlas-SNP	.											.	ACTL9	74	.	0			c.T1165A						.						37.0	39.0	38.0					19																	8807887		2203	4299	6502	SO:0001583	missense	284382	exon1			GCAGGGAGGCCAG		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1165T>A	chr19.hg19:g.8807887A>T	ENSP00000316674:p.Ser389Thr	207.0	0.0		173.0	22.0	NM_178525	A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	a	23.0	4.365919	0.82463	.	.	ENSG00000181786	ENST00000324436	D	0.95342	-3.68	4.51	4.51	0.55191	.	0.000000	0.39615	U	0.001309	D	0.96907	0.8990	M	0.80332	2.49	0.47949	D	0.99955	D	0.76494	0.999	D	0.87578	0.998	D	0.97394	0.9991	10	0.87932	D	0	.	13.0887	0.59156	1.0:0.0:0.0:0.0	.	389	Q8TC94	ACTL9_HUMAN	T	389	ENSP00000316674:S389T	ENSP00000316674:S389T	S	-	1	0	ACTL9	8668887	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	8.535000	0.90623	2.027000	0.59764	0.375000	0.23000	TCC	.	.		0.647	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525	
ZNF431	170959	hgsc.bcm.edu	37	19	21350459	21350459	+	Silent	SNP	T	T	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:21350459T>C	ENST00000311048.7	+	4	453	c.309T>C	c.(307-309)gaT>gaC	p.D103D	ZNF431_ENST00000600692.1_Silent_p.D103D|ZNF431_ENST00000599296.1_Silent_p.D103D|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	103	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGATGGTGGATGAACCCCCAG	0.418																																					p.D103D		Atlas-SNP	.											.	ZNF431	71	.	0			c.T309C						.						73.0	77.0	76.0					19																	21350459		2203	4300	6503	SO:0001819	synonymous_variant	170959	exon4			GGTGGATGAACCC	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.309T>C	chr19.hg19:g.21350459T>C		94.0	0.0		171.0	78.0	NM_133473	A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	hg19	CCDS32979.1																																																																																			.	.		0.418	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF43	7594	hgsc.bcm.edu	37	19	21990788	21990788	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:21990788C>A	ENST00000354959.4	-	4	2220	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V	ZNF43_ENST00000598381.1_Missense_Mutation_p.G678V|ZNF43_ENST00000595461.1_Missense_Mutation_p.G678V|ZNF43_ENST00000594012.1_Missense_Mutation_p.G678V	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	684					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGCTTTGCCACATTCTTC	0.368																																					p.G693V		Atlas-SNP	.											.	ZNF43	152	.	0			c.G2078T						.						49.0	53.0	52.0					19																	21990788		2165	4278	6443	SO:0001583	missense	7594	exon4			GCTTTGCCACATT	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2051G>T	chr19.hg19:g.21990788C>A	ENSP00000347045:p.Gly684Val	36.0	0.0		44.0	6.0	NM_001256653	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	hg19	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667505	0.47677	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.07444	3.19	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33030	0.0849	M	0.92691	3.335	0.58432	D	0.999999	D	0.71674	0.998	D	0.74348	0.983	T	0.38542	-0.9656	9	0.87932	D	0	.	10.4707	0.44635	0.0:1.0:0.0:0.0	.	684	P17038	ZNF43_HUMAN	V	683;684	ENSP00000347045:G684V	ENSP00000347045:G684V	G	-	2	0	ZNF43	21782628	0.622000	0.27085	0.647000	0.29507	0.841000	0.47740	2.428000	0.44749	0.976000	0.38417	0.305000	0.20034	GGC	.	.		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
FFAR2	2867	hgsc.bcm.edu	37	19	35940790	35940790	+	Silent	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:35940790G>C	ENST00000599180.2	+	2	254	c.174G>C	c.(172-174)ctG>ctC	p.L58L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L58L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	58					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTCCTCCTGCTGCTGCTGC	0.647																																					p.L58L	GBM(40;139 809 9833 23358 48736)	Atlas-SNP	.											.	FFAR2	39	.	0			c.G174C						.						39.0	34.0	36.0					19																	35940790		2203	4300	6503	SO:0001819	synonymous_variant	2867	exon1			CCTCCTGCTGCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.174G>C	chr19.hg19:g.35940790G>C		58.0	0.0		39.0	4.0	NM_005306	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	hg19	CCDS12461.1																																																																																			.	.		0.647	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
ATP4A	495	hgsc.bcm.edu	37	19	36042401	36042401	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:36042401C>T	ENST00000262623.3	-	19	2861	c.2833G>A	c.(2833-2835)Gtc>Atc	p.V945I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	945					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)	CGGATGAGGACATCGGCGATC	0.607																																					p.V945I		Atlas-SNP	.											.	ATP4A	123	.	0			c.G2833A						.						124.0	90.0	101.0					19																	36042401		2203	4300	6503	SO:0001583	missense	495	exon19			TGAGGACATCGGC		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.2833G>A	chr19.hg19:g.36042401C>T	ENSP00000262623:p.Val945Ile	133.0	0.0		107.0	32.0	NM_000704	O00738	Missense_Mutation	SNP	ENST00000262623.3	hg19	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186691	0.38609	.	.	ENSG00000105675	ENST00000262623	D	0.95788	-3.81	5.03	5.03	0.67393	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000020	D	0.93475	0.7918	N	0.25286	0.73	0.44227	D	0.997061	B	0.24426	0.103	B	0.39805	0.31	D	0.91841	0.5483	10	0.87932	D	0	.	15.9034	0.79400	0.0:1.0:0.0:0.0	.	945	P20648	ATP4A_HUMAN	I	945	ENSP00000262623:V945I	ENSP00000262623:V945I	V	-	1	0	ATP4A	40734241	0.517000	0.26226	0.569000	0.28460	0.188000	0.23474	1.172000	0.31908	2.623000	0.88846	0.313000	0.20887	GTC	.	.		0.607	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
PSG6	5675	hgsc.bcm.edu	37	19	43420365	43420365	+	Silent	SNP	C	C	T	rs386809476		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:43420365C>T	ENST00000292125.2	-	2	383	c.339G>A	c.(337-339)caG>caA	p.Q113Q	PSG6_ENST00000601833.1_Silent_p.Q42Q|PSG6_ENST00000187910.2_Silent_p.Q113Q|PSG6_ENST00000402603.4_Silent_p.Q113Q	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	113	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTGCATCCTCCTGTGTGACAT	0.453																																					p.Q113Q		Atlas-SNP	.											.	PSG6	89	.	0			c.G339A						.						360.0	324.0	336.0					19																	43420365		2201	4299	6500	SO:0001819	synonymous_variant	5675	exon2			ATCCTCCTGTGTG		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.339G>A	chr19.hg19:g.43420365C>T		93.0	0.0		133.0	32.0	NM_001031850	O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	hg19	CCDS12613.1																																																																																			.	.		0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
CD3EAP	10849	hgsc.bcm.edu	37	19	45912584	45912584	+	Missense_Mutation	SNP	C	C	G	rs368905711		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:45912584C>G	ENST00000309424.3	+	3	1846	c.1358C>G	c.(1357-1359)gCc>gGc	p.A453G	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.A455G|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	453					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CAGCCTGAAGCCAGGGCAACT	0.567																																					p.A453G		Atlas-SNP	.											.	CD3EAP	27	.	0			c.C1358G						.						49.0	57.0	54.0					19																	45912584		2200	4299	6499	SO:0001583	missense	10849	exon3			CTGAAGCCAGGGC	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1358C>G	chr19.hg19:g.45912584C>G	ENSP00000310966:p.Ala453Gly	194.0	0.0		172.0	49.0	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	hg19	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105165	0.37145	.	.	ENSG00000117877	ENST00000309424	T	0.15487	2.42	4.24	1.9	0.25705	.	0.532266	0.14198	N	0.334898	T	0.12774	0.0310	L	0.27053	0.805	0.20196	N	0.999928	D;P	0.52996	0.957;0.928	P;B	0.45946	0.498;0.302	T	0.14587	-1.0467	10	0.32370	T	0.25	.	6.9953	0.24779	0.169:0.7327:0.0:0.0983	.	455;453	O15446-2;O15446	.;RPA34_HUMAN	G	453	ENSP00000310966:A453G	ENSP00000310966:A453G	A	+	2	0	CD3EAP	50604424	0.006000	0.16342	0.011000	0.14972	0.254000	0.26022	1.047000	0.30367	0.760000	0.33108	0.561000	0.74099	GCC	.	.		0.567	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
EML2	24139	hgsc.bcm.edu	37	19	46124887	46124887	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:46124887G>A	ENST00000245925.3	-	10	900	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.R431C|EML2_ENST00000587152.1_Missense_Mutation_p.R485C|EML2_ENST00000589876.1_Missense_Mutation_p.R284C	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	284	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGTGTGATACGGTTCCCACCT	0.662																																					p.R485C		Atlas-SNP	.											.	EML2	64	.	0			c.C1453T						.						20.0	21.0	21.0					19																	46124887		2202	4295	6497	SO:0001583	missense	24139	exon13			TGATACGGTTCCC	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.850C>T	chr19.hg19:g.46124887G>A	ENSP00000245925:p.Arg284Cys	256.0	0.0		171.0	30.0	NM_001193268	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	hg19	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083522	0.55861	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.39406	1.08;1.08;5.0	3.1	3.1	0.35709	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.069226	0.56097	U	0.000031	T	0.58850	0.2151	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.962;0.972;0.996;0.95	T	0.60642	-0.7223	10	0.62326	D	0.03	-16.5272	7.354	0.26709	0.0:0.0:0.739:0.261	.	284;450;431;284	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	C	431;284;485;442	ENSP00000442365:R431C;ENSP00000245925:R284C;ENSP00000382503:R442C	ENSP00000245925:R284C	R	-	1	0	EML2	50816727	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	3.887000	0.56197	1.565000	0.49641	0.195000	0.17529	CGT	.	.		0.662	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
PNMAL2	57469	hgsc.bcm.edu	37	19	46997933	46997933	+	Intron	SNP	T	T	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:46997933T>G	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_Missense_Mutation_p.K264Q|AC011484.1_ENST00000377652.3_Missense_Mutation_p.F15C|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTTCTTTCTTCGATTTGTCG	0.592																																					p.K264Q		Atlas-SNP	.											.	PNMAL2	44	.	0			c.A790C						.						74.0	63.0	67.0					19																	46997933		2203	4300	6503	SO:0001627	intron_variant	57469	exon1			CTTTCTTCGATTT	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+55A>C	chr19.hg19:g.46997933T>G		155.0	0.0		117.0	5.0	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	hg19		.	.	.	.	.	.	.	.	.	.	T	6.437	0.448769	0.12223	.	.	ENSG00000204850	ENST00000377652	.	.	.	2.32	1.29	0.21616	.	.	.	.	.	T	0.24699	0.0599	N	0.19112	0.55	0.26138	N	0.980323	B	0.13145	0.007	B	0.04013	0.001	T	0.21861	-1.0233	8	0.87932	D	0	-5.8825	4.2223	0.10563	0.0:0.1731:0.0:0.8269	.	15	Q6ZVU4	.	C	15	.	ENSP00000366880:F15C	F	+	2	0	AC011484.1	51689773	0.062000	0.20869	0.310000	0.25168	0.042000	0.13812	0.327000	0.19663	0.318000	0.23185	0.402000	0.26972	TTC	.	.		0.592	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
CABP5	56344	hgsc.bcm.edu	37	19	48533839	48533839	+	Splice_Site	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:48533839T>A	ENST00000293255.2	-	6	627	c.497A>T	c.(496-498)gAg>gTg	p.E166V		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	166	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CTTCACAAACTCTGCAAAGAA	0.488																																					p.E166V		Atlas-SNP	.											.	CABP5	28	.	0			c.A497T						.						81.0	82.0	82.0					19																	48533839		2203	4300	6503	SO:0001630	splice_region_variant	56344	exon6			ACAAACTCTGCAA	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.497-1A>T	chr19.hg19:g.48533839T>A		129.0	0.0		151.0	20.0	NM_019855	A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	hg19	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550428	0.86127	.	.	ENSG00000105507	ENST00000293255	D	0.86865	-2.18	5.31	5.31	0.75309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	H	0.96833	3.89	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	D	0.96697	0.9515	10	0.87932	D	0	.	13.5807	0.61901	0.0:0.0:0.0:1.0	.	166	Q9NP86	CABP5_HUMAN	V	166	ENSP00000293255:E166V	ENSP00000293255:E166V	E	-	2	0	CABP5	53225651	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.660000	0.74417	2.162000	0.67917	0.529000	0.55759	GAG	.	.		0.488	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	Missense_Mutation
HSPBP1	23640	hgsc.bcm.edu	37	19	55777301	55777301	+	Silent	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:55777301C>A	ENST00000255631.5	-	7	1156	c.846G>T	c.(844-846)cgG>cgT	p.R282R	HSPBP1_ENST00000587922.1_Silent_p.R282R|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000433386.2_Silent_p.R282R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGTGCTCTGTCCGCACCAGGG	0.682																																					p.R282R		Atlas-SNP	.											.	HSPBP1	24	.	0			c.G846T						.						18.0	19.0	19.0					19																	55777301		2201	4298	6499	SO:0001819	synonymous_variant	23640	exon6			CTCTGTCCGCACC		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.846G>T	chr19.hg19:g.55777301C>A		175.0	0.0		209.0	31.0	NM_012267	B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	hg19	CCDS33111.1																																																																																			.	.		0.682	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
NLRP9	338321	hgsc.bcm.edu	37	19	56244026	56244026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr19:56244026G>A	ENST00000332836.2	-	2	1198	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	391	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTTTTAGTCGGGCTCTGTTC	0.418																																					p.R391X		Atlas-SNP	.											.	NLRP9	163	.	0			c.C1171T						.						88.0	89.0	89.0					19																	56244026		2203	4298	6501	SO:0001587	stop_gained	338321	exon2			TTAGTCGGGCTCT	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1171C>T	chr19.hg19:g.56244026G>A	ENSP00000331857:p.Arg391*	119.0	0.0		180.0	17.0	NM_176820	B2RN12|Q86W27	Nonsense_Mutation	SNP	ENST00000332836.2	hg19	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639125	0.67244	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	.	.	.	2.56	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9099	0.09199	0.1422:0.2557:0.6021:0.0	.	.	.	.	X	391	.	ENSP00000331857:R391X	R	-	1	2	NLRP9	60935838	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	0.105000	0.15333	0.667000	0.31107	-0.178000	0.13098	CGA	.	.		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
SRXN1	140809	hgsc.bcm.edu	37	20	629465	629465	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:629465C>T	ENST00000381962.3	-	2	491	c.307G>A	c.(307-309)Gcg>Acg	p.A103T	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	103					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						TGGTAGGCCGCGTAGCGGTGG	0.612																																					p.A103T		Atlas-SNP	.											SRXN1,NS,carcinoma,0,2	SRXN1	11	.	0			c.G307A						.						79.0	78.0	79.0					20																	629465		2203	4300	6503	SO:0001583	missense	140809	exon2			AGGCCGCGTAGCG	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.307G>A	chr20.hg19:g.629465C>T	ENSP00000371388:p.Ala103Thr	120.0	0.0		77.0	29.0	NM_080725	B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	ENST00000381962.3	hg19	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952875	0.73787	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.69	4.75	0.60458	ParB-like nuclease (1);	0.000000	0.64402	U	0.000007	T	0.46502	0.1396	L	0.42245	1.32	0.53005	D	0.999961	P	0.43607	0.812	B	0.41988	0.372	T	0.46317	-0.9200	9	0.49607	T	0.09	-12.2745	11.4831	0.50337	0.0:0.9168:0.0:0.0832	.	103	Q9BYN0	SRXN1_HUMAN	T	103	.	ENSP00000371388:A103T	A	-	1	0	SRXN1	577465	1.000000	0.71417	0.583000	0.28640	0.970000	0.65996	7.015000	0.76387	1.422000	0.47177	0.650000	0.86243	GCG	.	.		0.612	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725	
APMAP	57136	hgsc.bcm.edu	37	20	24944625	24944625	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:24944625G>A	ENST00000217456.2	-	9	1365	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	359					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.P359S(1)									CTGTACCGCGGCACAAACTTC	0.572																																					p.P359S		Atlas-SNP	.											C20orf3,NS,carcinoma,0,1	APMAP	3	.	1	Substitution - Missense(1)	prostate(1)	c.C1075T						.						89.0	82.0	84.0					20																	24944625		2203	4300	6503	SO:0001583	missense	57136	exon9			ACCGCGGCACAAA	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.1075C>T	chr20.hg19:g.24944625G>A	ENSP00000217456:p.Pro359Ser	170.0	0.0		101.0	41.0	NM_020531	A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Missense_Mutation	SNP	ENST00000217456.2	hg19	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313619	0.60414	.	.	ENSG00000101474	ENST00000217456	T	0.23147	1.92	5.01	5.01	0.66863	Six-bladed beta-propeller, TolB-like (1);	0.114812	0.64402	D	0.000009	T	0.39963	0.1098	M	0.75150	2.29	0.80722	D	1	D;B	0.54047	0.964;0.409	P;B	0.52823	0.71;0.156	T	0.27872	-1.0061	10	0.11794	T	0.64	-7.486	15.8198	0.78631	0.0:0.0:1.0:0.0	.	351;359	A2A2F9;Q9HDC9	.;APMAP_HUMAN	S	359	ENSP00000217456:P359S	ENSP00000217456:P359S	P	-	1	0	C20orf3	24892625	1.000000	0.71417	0.939000	0.37840	0.820000	0.46376	9.749000	0.98871	2.298000	0.77334	0.561000	0.74099	CCG	.	.		0.572	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531	
ACSS1	84532	hgsc.bcm.edu	37	20	25028776	25028776	+	Missense_Mutation	SNP	C	C	T	rs113598729		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:25028776C>T	ENST00000323482.4	-	2	455	c.376G>A	c.(376-378)Gtt>Att	p.V126I	ACSS1_ENST00000432802.2_Missense_Mutation_p.V126I|ACSS1_ENST00000376726.3_Missense_Mutation_p.V126I	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	126					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATCAAAGCAACGCTCTCGGGG	0.547																																					p.V126I		Atlas-SNP	.											.	ACSS1	46	.	0			c.G376A						.						103.0	86.0	92.0					20																	25028776		2203	4300	6503	SO:0001583	missense	84532	exon2			AAGCAACGCTCTC		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.376G>A	chr20.hg19:g.25028776C>T	ENSP00000316924:p.Val126Ile	95.0	0.0		53.0	25.0	NM_001252677	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	hg19	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	8.990	0.977432	0.18812	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.49432	0.78;0.78;2.84	5.39	-4.21	0.03812	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.482252	0.22670	N	0.057076	T	0.34193	0.0889	L	0.39514	1.22	0.27613	N	0.948602	P;B;B	0.47034	0.889;0.053;0.065	B;B;B	0.42555	0.391;0.02;0.034	T	0.40720	-0.9548	10	0.38643	T	0.18	-9.1504	11.7706	0.51956	0.0:0.3746:0.0:0.6254	.	126;126;126	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	I	126	ENSP00000316924:V126I;ENSP00000388793:V126I;ENSP00000365916:V126I	ENSP00000316924:V126I	V	-	1	0	ACSS1	24976776	0.013000	0.17824	0.000000	0.03702	0.033000	0.12548	-0.003000	0.12901	-0.834000	0.04239	0.455000	0.32223	GTT	.	C|0.500;T|0.500		0.547	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501	
FAM83D	81610	hgsc.bcm.edu	37	20	37576553	37576553	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:37576553A>G	ENST00000217429.4	+	3	817	c.776A>G	c.(775-777)tAc>tGc	p.Y259C		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	229					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GGAAATATCTACTATGCAAGG	0.433																																					p.Y259C		Atlas-SNP	.											.	FAM83D	60	.	0			c.A776G						.						135.0	128.0	130.0					20																	37576553		1934	4134	6068	SO:0001583	missense	81610	exon3			ATATCTACTATGC	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.776A>G	chr20.hg19:g.37576553A>G	ENSP00000217429:p.Tyr259Cys	83.0	0.0		87.0	18.0	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	hg19	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.280881	0.80692	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.18016	2.24	6.16	6.16	0.99307	.	0.058491	0.64402	D	0.000001	T	0.49150	0.1540	M	0.87827	2.91	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.55958	-0.8058	10	0.87932	D	0	.	16.4795	0.84153	1.0:0.0:0.0:0.0	.	229	Q9H4H8	FA83D_HUMAN	C	259;213	ENSP00000217429:Y259C	ENSP00000217429:Y259C	Y	+	2	0	FAM83D	37009967	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.731000	0.62022	2.367000	0.80283	0.528000	0.53228	TAC	.	.		0.433	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
PTPRT	11122	hgsc.bcm.edu	37	20	40979351	40979351	+	Silent	SNP	G	G	A	rs377291418		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:40979351G>A	ENST00000373187.1	-	11	1781	c.1782C>T	c.(1780-1782)taC>taT	p.Y594Y	PTPRT_ENST00000373184.1_Silent_p.Y594Y|PTPRT_ENST00000373201.1_Silent_p.Y594Y|PTPRT_ENST00000356100.2_Silent_p.Y594Y|PTPRT_ENST00000373198.4_Silent_p.Y594Y|PTPRT_ENST00000373193.3_Silent_p.Y594Y|PTPRT_ENST00000373190.1_Silent_p.Y594Y			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	594	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCTGTGTCGTACTCAGGCA	0.557																																					p.Y594Y		Atlas-SNP	.											PTPRT,colon,carcinoma,0,1	PTPRT	372	.	0			c.C1782T						.	G	,	1,4179		0,1,2089	146.0	153.0	151.0		1782,1782	-3.6	1.0	20		151	0,8446		0,0,4223	no	coding-synonymous,coding-synonymous	PTPRT	NM_007050.5,NM_133170.3	,	0,1,6312	AA,AG,GG		0.0,0.0239,0.0079	,	594/1442,594/1461	40979351	1,12625	2090	4223	6313	SO:0001819	synonymous_variant	11122	exon11			TGTGTCGTACTCA	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1782C>T	chr20.hg19:g.40979351G>A		35.0	0.0		52.0	9.0	NM_007050	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	hg19	CCDS42874.1																																																																																			.	.		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
DBNDD2	55861	hgsc.bcm.edu	37	20	44035182	44035182	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:44035182G>A	ENST00000372720.3	+	1	322	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372722.3_Intron|DBNDD2_ENST00000360981.4_5'Flank|DBNDD2_ENST00000357275.2_Intron|TP53TG5_ENST00000494455.1_Intron|DBNDD2_ENST00000372717.1_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000372712.2_5'Flank|DBNDD2_ENST00000372710.3_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	31					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGCGAGCGAGTGAGCCCGCC	0.726																																					p.V31M		Atlas-SNP	.											.	DBNDD2	30	.	0			c.G91A						.																																			SO:0001583	missense	55861	exon1			GAGCGAGTGAGCC	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.91G>A	chr20.hg19:g.44035182G>A	ENSP00000361805:p.Val31Met	231.0	0.0		137.0	28.0	NM_018478	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	hg19	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861648	0.71949	.	.	ENSG00000244274	ENST00000372720	T	0.41065	1.01	3.39	-1.36	0.09085	.	.	.	.	.	T	0.21674	0.0522	N	0.14661	0.345	0.09310	N	0.999996	.	.	.	.	.	.	T	0.27191	-1.0081	7	0.87932	D	0	.	0.5182	0.00607	0.2675:0.2568:0.2987:0.1771	.	.	.	.	M	31	ENSP00000361805:V31M	ENSP00000361805:V31M	V	+	1	0	DBNDD2	43468596	0.000000	0.05858	0.002000	0.10522	0.673000	0.39480	0.370000	0.20433	-0.076000	0.12775	0.455000	0.32223	GTG	.	.		0.726	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478	
CDH22	64405	hgsc.bcm.edu	37	20	44815546	44815546	+	Silent	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr20:44815546T>A	ENST00000372262.3	-	8	1864	c.1464A>T	c.(1462-1464)cgA>cgT	p.R488R	CDH22_ENST00000537909.1_Silent_p.R488R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	488	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CATCCAGGATTCGGATCCTTA	0.577																																					p.R488R		Atlas-SNP	.											.	CDH22	112	.	0			c.A1464T						.						244.0	220.0	228.0					20																	44815546		2203	4300	6503	SO:0001819	synonymous_variant	64405	exon9			CAGGATTCGGATC	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1464A>T	chr20.hg19:g.44815546T>A		83.0	0.0		69.0	14.0	NM_021248	B9EGK7|O43205	Silent	SNP	ENST00000372262.3	hg19	CCDS13395.1																																																																																			.	.		0.577	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
GART	2618	hgsc.bcm.edu	37	21	34889352	34889352	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr21:34889352C>A	ENST00000381831.3	-	16	2314	c.2051G>T	c.(2050-2052)gGa>gTa	p.G684V	GART_ENST00000381815.4_Missense_Mutation_p.G684V|GART_ENST00000381839.3_Missense_Mutation_p.G684V|GART_ENST00000543717.1_Missense_Mutation_p.G236V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	684	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TAGTAATCCTCCACCAGTAAT	0.458																																					p.G684V		Atlas-SNP	.											.	GART	81	.	0			c.G2051T						.						118.0	113.0	115.0					21																	34889352		2203	4300	6503	SO:0001583	missense	2618	exon16			AATCCTCCACCAG	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2051G>T	chr21.hg19:g.34889352C>A	ENSP00000371253:p.Gly684Val	215.0	0.0		163.0	26.0	NM_001136005	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	hg19	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432502	0.83776	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.6	4.6	0.57074	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	H	0.99498	4.595	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.89891	0.4037	10	0.87932	D	0	-9.2916	17.802	0.88590	0.0:1.0:0.0:0.0	.	684	P22102	PUR2_HUMAN	V	684;684;684;236	ENSP00000371236:G684V;ENSP00000371253:G684V;ENSP00000371261:G684V;ENSP00000443579:G236V	ENSP00000371236:G684V	G	-	2	0	GART	33811222	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	5.672000	0.68102	2.261000	0.74972	0.462000	0.41574	GGA	.	.		0.458	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819	
DOPEY2	9980	hgsc.bcm.edu	37	21	37612121	37612121	+	Missense_Mutation	SNP	G	G	C	rs559929390		TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr21:37612121G>C	ENST00000399151.3	+	18	3020	c.2935G>C	c.(2935-2937)Gcc>Ccc	p.A979P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	979					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGTGCGGCAGCCCAGGGCTG	0.647																																					p.A979P		Atlas-SNP	.											.	DOPEY2	184	.	0			c.G2935C						.						50.0	39.0	43.0					21																	37612121		2192	4290	6482	SO:0001583	missense	9980	exon18			GCGGCAGCCCAGG	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2935G>C	chr21.hg19:g.37612121G>C	ENSP00000382104:p.Ala979Pro	57.0	0.0		34.0	6.0	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	hg19	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813550	0.90790	.	.	ENSG00000142197	ENST00000399151	T	0.37752	1.18	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65179	-0.6231	10	0.72032	D	0.01	-13.6637	18.878	0.92346	0.0:0.0:1.0:0.0	.	979;979	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	P	979	ENSP00000382104:A979P	ENSP00000382104:A979P	A	+	1	0	DOPEY2	36533991	1.000000	0.71417	0.950000	0.38849	0.683000	0.39861	9.253000	0.95501	2.470000	0.83445	0.561000	0.74099	GCC	.	.		0.647	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
ELFN2	114794	hgsc.bcm.edu	37	22	37769363	37769363	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr22:37769363T>A	ENST00000402918.2	-	3	2997	c.2212A>T	c.(2212-2214)Aag>Tag	p.K738*	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	738					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAGTCACGCTTGGAGCGGGTC	0.632																																					p.K738X		Atlas-SNP	.											.	ELFN2	89	.	0			c.A2212T						.						61.0	56.0	58.0					22																	37769363		2202	4300	6502	SO:0001587	stop_gained	114794	exon3			CACGCTTGGAGCG	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2212A>T	chr22.hg19:g.37769363T>A	ENSP00000385277:p.Lys738*	138.0	0.0		101.0	11.0	NM_052906	Q96PY3	Nonsense_Mutation	SNP	ENST00000402918.2	hg19	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	T	39	7.608802	0.98387	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	.	.	.	4.63	4.63	0.57726	.	0.197550	0.40908	D	0.000987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-28.6294	14.3358	0.66589	0.0:0.0:0.0:1.0	.	.	.	.	X	738	.	ENSP00000300147:K738X	K	-	1	0	ELFN2	36099309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.138000	0.50570	1.837000	0.53436	0.459000	0.35465	AAG	.	.		0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
FRMPD4	9758	hgsc.bcm.edu	37	X	12736467	12736467	+	Silent	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:12736467C>T	ENST00000380682.1	+	16	4028	c.3522C>T	c.(3520-3522)tgC>tgT	p.C1174C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1174					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCCACCTGCGACCATCCTT	0.552																																					p.C1174C		Atlas-SNP	.											.	FRMPD4	214	.	0			c.C3522T						.						144.0	127.0	133.0					X																	12736467		2203	4300	6503	SO:0001819	synonymous_variant	9758	exon16			CACCTGCGACCAT	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3522C>T	chrX.hg19:g.12736467C>T		204.0	0.0		102.0	26.0	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	hg19	CCDS35201.1																																																																																			.	.		0.552	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
USP51	158880	hgsc.bcm.edu	37	X	55514722	55514722	+	Silent	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:55514722A>G	ENST00000500968.3	-	2	733	c.651T>C	c.(649-651)cgT>cgC	p.R217R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	217					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCCAAACGAAACGCTGGTAGA	0.488																																					p.R217R		Atlas-SNP	.											.	USP51	71	.	0			c.T651C						.						93.0	76.0	82.0					X																	55514722		2203	4300	6503	SO:0001819	synonymous_variant	158880	exon2			AACGAAACGCTGG	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.651T>C	chrX.hg19:g.55514722A>G		499.0	0.0		270.0	96.0	NM_201286	Q8IWJ8	Silent	SNP	ENST00000500968.3	hg19	CCDS14370.1																																																																																			.	.		0.488	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
NONO	4841	hgsc.bcm.edu	37	X	70517737	70517737	+	Missense_Mutation	SNP	A	A	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:70517737A>C	ENST00000276079.8	+	9	1285	c.1080A>C	c.(1078-1080)gaA>gaC	p.E360D	NONO_ENST00000535149.1_Missense_Mutation_p.E271D|NONO_ENST00000373856.3_Missense_Mutation_p.E360D|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.E360D	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	360	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GGCAGCAAGAAGAAATGATGC	0.517			T	TFE3	papillary renal cancer																																p.E360D		Atlas-SNP	.		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	.	NONO	70	.	0			c.A1080C						.						89.0	68.0	75.0					X																	70517737		2203	4300	6503	SO:0001583	missense	4841	exon10			GCAAGAAGAAATG	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1080A>C	chrX.hg19:g.70517737A>C	ENSP00000276079:p.Glu360Asp	257.0	0.0		216.0	84.0	NM_001145408	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	hg19	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	16.61|16.61	3.171919|3.171919	0.57584|0.57584	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841|ENST00000418921	T;T;T;T|.	0.23147|.	1.96;1.92;1.92;1.92|.	5.23|5.23	1.34|1.34	0.21922|0.21922	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61788|0.61788	0.2375|0.2375	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	D|.	0.53151|.	0.958|.	B|.	0.40534|.	0.332|.	T|T	0.57236|0.57236	-0.7846|-0.7846	10|5	0.62326|.	D|.	0.03|.	-12.0954|-12.0954	8.9718|8.9718	0.35910|0.35910	0.612:0.0:0.388:0.0|0.612:0.0:0.388:0.0	.|.	360|.	Q15233|.	NONO_HUMAN|.	D|T	271;360;360;360|222	ENSP00000441364:E271D;ENSP00000276079:E360D;ENSP00000362963:E360D;ENSP00000362947:E360D|.	ENSP00000276079:E360D|.	E|K	+|+	3|2	2|0	NONO|NONO	70434462|70434462	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	2.426000|2.426000	0.44731|0.44731	0.275000|0.275000	0.22094|0.22094	0.430000|0.430000	0.28490|0.28490	GAA|AAG	.	.		0.517	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
NONO	4841	hgsc.bcm.edu	37	X	70517753	70517753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:70517753C>T	ENST00000276079.8	+	9	1301	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	NONO_ENST00000535149.1_Nonsense_Mutation_p.Q277*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Q366*|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Nonsense_Mutation_p.Q366*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	366	DBHS.			QQ -> HE (in Ref. 3; CAA72157 and 4; AAA03427). {ECO:0000305}.	circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GATGCGGCGACAGCAGGAAGG	0.522			T	TFE3	papillary renal cancer																																p.Q366X		Atlas-SNP	.		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	.	NONO	70	.	0			c.C1096T						.						91.0	68.0	76.0					X																	70517753		2203	4300	6503	SO:0001587	stop_gained	4841	exon10			CGGCGACAGCAGG	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1096C>T	chrX.hg19:g.70517753C>T	ENSP00000276079:p.Gln366*	262.0	0.0		214.0	84.0	NM_001145408	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	hg19	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.937907	0.92526	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.9515	16.7805	0.85562	0.0:1.0:0.0:0.0	.	.	.	.	X	277;366;366;366	.	ENSP00000276079:Q366X	Q	+	1	0	NONO	70434478	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.488000	0.81441	2.427000	0.82271	0.529000	0.55759	CAG	.	.		0.522	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363	
CYSLTR1	10800	hgsc.bcm.edu	37	X	77528345	77528345	+	Missense_Mutation	SNP	C	C	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:77528345C>A	ENST00000373304.3	-	3	1191	c.899G>T	c.(898-900)gGt>gTt	p.G300V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	300					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CCTAAAGTTACCCCCAGAAAA	0.433																																					p.G300V		Atlas-SNP	.											.	CYSLTR1	59	.	0			c.G899T						.						55.0	54.0	54.0					X																	77528345		2202	4300	6502	SO:0001583	missense	10800	exon3			AAGTTACCCCCAG	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.899G>T	chrX.hg19:g.77528345C>A	ENSP00000362401:p.Gly300Val	526.0	0.0		440.0	168.0	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	hg19	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122903	0.20959	.	.	ENSG00000173198	ENST00000373304	T	0.20463	2.07	4.07	4.07	0.47477	.	0.326050	0.32147	N	0.006519	T	0.10380	0.0254	N	0.08118	0	0.58432	D	0.999998	B	0.30068	0.267	B	0.30495	0.116	T	0.10222	-1.0639	10	0.62326	D	0.03	.	6.7907	0.23697	0.0:0.8695:0.0:0.1305	.	300	Q9Y271	CLTR1_HUMAN	V	300	ENSP00000362401:G300V	ENSP00000362401:G300V	G	-	2	0	CYSLTR1	77415001	1.000000	0.71417	0.951000	0.38953	0.512000	0.34134	5.426000	0.66476	1.855000	0.53841	0.468000	0.43344	GGT	.	.		0.433	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1		
GPR174	84636	hgsc.bcm.edu	37	X	78427214	78427214	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:78427214G>A	ENST00000276077.1	+	1	746	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G237E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ACCTGTGCAGGGGTATTCCTA	0.408										HNSCC(63;0.18)																											p.G237E		Atlas-SNP	.											.	GPR174	79	.	1	Substitution - Missense(1)	lung(1)	c.G710A						.						102.0	95.0	98.0					X																	78427214		2203	4300	6503	SO:0001583	missense	84636	exon1			GTGCAGGGGTATT	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.710G>A	chrX.hg19:g.78427214G>A	ENSP00000276077:p.Gly237Glu	57.0	0.0		81.0	33.0	NM_032553	Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	hg19	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	3.764	-0.049063	0.07407	.	.	ENSG00000147138	ENST00000276077	T	0.38401	1.14	5.18	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.603289	0.17071	N	0.188174	T	0.33933	0.0880	L	0.39245	1.2	0.09310	N	1	B	0.31256	0.316	B	0.41412	0.356	T	0.29549	-1.0008	10	0.49607	T	0.09	.	6.717	0.23308	0.0:0.3841:0.3517:0.2643	.	237	Q9BXC1	GP174_HUMAN	E	237	ENSP00000276077:G237E	ENSP00000276077:G237E	G	+	2	0	GPR174	78313870	0.981000	0.34729	0.673000	0.29887	0.444000	0.32077	2.228000	0.42981	0.941000	0.37499	0.488000	0.48403	GGG	.	.		0.408	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
CUL4B	8450	hgsc.bcm.edu	37	X	119672026	119672026	+	Missense_Mutation	SNP	A	A	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:119672026A>G	ENST00000404115.3	-	16	2346	c.1945T>C	c.(1945-1947)Ttt>Ctt	p.F649L	CUL4B_ENST00000336592.6_Missense_Mutation_p.F636L|CUL4B_ENST00000371322.5_Missense_Mutation_p.F631L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	649					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGTCTTTAAACATTCCTTCA	0.299																																					p.F649L		Atlas-SNP	.											.	CUL4B	181	.	0			c.T1945C						.						109.0	95.0	100.0					X																	119672026		2202	4298	6500	SO:0001583	missense	8450	exon16			CTTTAAACATTCC	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1945T>C	chrX.hg19:g.119672026A>G	ENSP00000384109:p.Phe649Leu	101.0	0.0		106.0	29.0	NM_003588	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	hg19	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083071	0.76642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.71341	-0.56;-0.56;-0.56	5.87	4.69	0.59074	Cullin, N-terminal (1);Cullin homology (3);	0.046389	0.85682	D	0.000000	T	0.81758	0.4890	M	0.81682	2.555	0.80722	D	1	P;D;D	0.65815	0.913;0.995;0.993	P;P;P	0.62184	0.532;0.899;0.837	T	0.81771	-0.0780	9	.	.	.	-15.4884	11.477	0.50304	0.8515:0.1485:0.0:0.0	.	453;649;631	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	L	631;636;649	ENSP00000360373:F631L;ENSP00000338919:F636L;ENSP00000384109:F649L	.	F	-	1	0	CUL4B	119556054	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.307000	0.96226	0.816000	0.34421	-0.508000	0.04489	TTT	.	.		0.299	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
GLUD2	2747	hgsc.bcm.edu	37	X	120181749	120181749	+	Missense_Mutation	SNP	G	G	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:120181749G>A	ENST00000328078.1	+	1	288	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	71					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CAAGATGGTGGAGGGCTTCTT	0.677																																					p.E71K		Atlas-SNP	.											.	GLUD2	89	.	0			c.G211A						.						69.0	63.0	65.0					X																	120181749		2203	4298	6501	SO:0001583	missense	2747	exon1			ATGGTGGAGGGCT	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.211G>A	chrX.hg19:g.120181749G>A	ENSP00000327589:p.Glu71Lys	1229.0	0.0		782.0	88.0	NM_012084	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	hg19	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782346	0.49891	.	.	ENSG00000182890	ENST00000328078	D	0.96856	-4.15	1.58	0.643	0.17770	.	0.000000	0.85682	U	0.000000	D	0.90580	0.7047	L	0.52126	1.63	0.53688	D	0.999974	P	0.44344	0.833	B	0.31442	0.13	D	0.84295	0.0502	10	0.33141	T	0.24	.	6.6429	0.22919	0.0:0.0:0.717:0.283	.	71	P49448	DHE4_HUMAN	K	71	ENSP00000327589:E71K	ENSP00000327589:E71K	E	+	1	0	GLUD2	120009430	1.000000	0.71417	0.007000	0.13788	0.455000	0.32408	6.227000	0.72282	0.162000	0.19483	-0.833000	0.03075	GAG	.	.		0.677	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
OR13H1	347468	hgsc.bcm.edu	37	X	130678588	130678588	+	Missense_Mutation	SNP	C	C	G			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:130678588C>G	ENST00000338616.3	+	1	639	c.541C>G	c.(541-543)Ctc>Gtc	p.L181V		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CTGTGAGATTCTCTCCCTCAT	0.473																																					p.L181V		Atlas-SNP	.											.	OR13H1	41	.	0			c.C541G						.						263.0	225.0	237.0					X																	130678588		2203	4300	6503	SO:0001583	missense	347468	exon1			GAGATTCTCTCCC		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.541C>G	chrX.hg19:g.130678588C>G	ENSP00000340748:p.Leu181Val	83.0	0.0		109.0	19.0	NM_001004486	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	hg19	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385003	0.25031	.	.	ENSG00000171054	ENST00000338616	T	0.00115	8.71	4.78	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.464888	0.15868	U	0.240660	T	0.00271	0.0008	M	0.71871	2.18	0.09310	N	1	P	0.49447	0.924	P	0.49387	0.609	T	0.49214	-0.8963	10	0.39692	T	0.17	.	10.8765	0.46915	0.2042:0.7958:0.0:0.0	.	181	Q8NG92	O13H1_HUMAN	V	181	ENSP00000340748:L181V	ENSP00000340748:L181V	L	+	1	0	OR13H1	130506269	0.000000	0.05858	0.077000	0.20336	0.604000	0.37047	-0.735000	0.04888	0.967000	0.38186	-0.328000	0.08392	CTC	.	.		0.473	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
SMIM10	644538	hgsc.bcm.edu	37	X	134125311	134125311	+	Missense_Mutation	SNP	G	G	C			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:134125311G>C	ENST00000330288.4	+	1	344	c.186G>C	c.(184-186)aaG>aaC	p.K62N		NM_001163438.1	NP_001156910.1	Q96HG1	SIM10_HUMAN	small integral membrane protein 10	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGCTGCGCAAGAACTTCTTTT	0.577																																					p.K62N		Atlas-SNP	.											.	.	.	.	0			c.G186C						.						37.0	35.0	36.0					X																	134125311		692	1591	2283	SO:0001583	missense	644538	exon1			GCGCAAGAACTTC		CCDS55502.1	Xq26.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000184785	ENSG00000184785			41913	protein-coding gene	gene with protein product			"""chromosome X open reading frame 69"""	CXorf69			Standard	NM_001163438		Approved		uc011mvs.2	Q96HG1		ENST00000330288.4:c.186G>C	chrX.hg19:g.134125311G>C	ENSP00000328335:p.Lys62Asn	325.0	0.0		213.0	40.0	NM_001163438		Missense_Mutation	SNP	ENST00000330288.4	hg19	CCDS55502.1	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755731	0.15846	.	.	ENSG00000184785	ENST00000330288	.	.	.	3.39	-3.26	0.05064	.	0.596292	0.13979	U	0.349628	T	0.27313	0.0670	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.11717	-1.0576	8	0.66056	D	0.02	.	7.0651	0.25147	0.2894:0.5227:0.1879:0.0	.	62	Q96HG1	CX069_HUMAN	N	62	.	ENSP00000328335:K62N	K	+	3	2	Z83826.1	133952977	0.559000	0.26562	0.000000	0.03702	0.001000	0.01503	0.191000	0.17076	-1.071000	0.03145	-2.348000	0.00243	AAG	.	.		0.577	SMIM10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001163438	
VGLL1	51442	hgsc.bcm.edu	37	X	135632968	135632968	+	Missense_Mutation	SNP	C	C	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chrX:135632968C>T	ENST00000370634.3	+	4	846	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	MIR934_ENST00000401241.1_RNA|VGLL1_ENST00000470358.1_3'UTR	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CAGTACCAGCCTTCCAAATGA	0.403																																					p.L226F		Atlas-SNP	.											.	VGLL1	41	.	0			c.C676T						.						151.0	140.0	144.0					X																	135632968		2203	4300	6503	SO:0001583	missense	51442	exon4			ACCAGCCTTCCAA	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.676C>T	chrX.hg19:g.135632968C>T	ENSP00000359668:p.Leu226Phe	183.0	0.0		147.0	20.0	NM_016267	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	hg19	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.95|10.95	1.494602|1.494602	0.26774|0.26774	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|.	0.60797|.	0.2;0.16|.	5.55|5.55	3.79|3.79	0.43588|0.43588	.|.	1.255470|.	0.05458|.	N|.	0.550611|.	T|T	0.25419|0.25419	0.0618|0.0618	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.12837|.	0.008|.	T|T	0.19712|0.19712	-1.0297|-1.0297	10|5	0.46703|.	T|.	0.11|.	-1.0884|-1.0884	7.2407|7.2407	0.26094|0.26094	0.0:0.8003:0.0:0.1997|0.0:0.8003:0.0:0.1997	.|.	226|.	Q99990|.	VGLL1_HUMAN|.	F|L	226;83;28|143	ENSP00000359668:L226F;ENSP00000388868:L28F|.	ENSP00000359668:L226F|.	L|P	+|+	1|2	0|0	VGLL1|VGLL1	135460634|135460634	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.163000|0.163000	0.22366|0.22366	-0.280000|-0.280000	0.08468|0.08468	0.684000|0.684000	0.31448|0.31448	0.600000|0.600000	0.82982|0.82982	CTT|CCT	.	.		0.403	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
MEP1B	4225	hgsc.bcm.edu	37	18	29787402	29787403	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr18:29787402_29787403delTC	ENST00000269202.6	+	8	782_783	c.735_736delTC	c.(733-738)gatctcfs	p.L247fs	MEP1B_ENST00000581447.1_Frame_Shift_Del_p.L247fs	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	247	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGACTCTGATCTCCTAAAGTT	0.396																																					p.245_245del		Atlas-Indel,Pindel	.											.	MEP1B	54	.	0			c.734_735del						.																																			SO:0001589	frameshift_variant	4225	exon8			.	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.735_736delTC	chr18.hg19:g.29787404_29787405delTC	ENSP00000269202:p.Leu247fs	176.0	0.0		132.0	24.0	NM_005925	B7ZM35|B9EGL6|Q670J1	Frame_Shift_Del	DEL	ENST00000269202.6	hg19	CCDS45846.1																																																																																			.	.		0.396	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
CCDC15	80071	hgsc.bcm.edu	37	11	124857994	124857998	+	Frame_Shift_Del	DEL	CAAAT	CAAAT	-			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	CAAAT	CAAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr11:124857994_124857998delCAAAT	ENST00000344762.5	+	8	2131_2135	c.1872_1876delCAAAT	c.(1870-1878)cccaaatgtfs	p.KC625fs	CCDC15_ENST00000529051.1_Frame_Shift_Del_p.KC625fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	625						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ATATTCTACCCAAATGTCAGGACCA	0.39																																					p.624_625del		Atlas-Indel,Pindel	.											.	CCDC15	134	.	0			c.1871_1875del						.																																			SO:0001589	frameshift_variant	80071	exon8			.	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1872_1876delCAAAT	chr11.hg19:g.124857994_124857998delCAAAT	ENSP00000341684:p.Lys625fs	141.0	0.0		111.0	49.0	NM_025004	Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	hg19	CCDS44756.1																																																																																			.	.		0.390	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
HMCN1	83872	hgsc.bcm.edu	37	1	186052065	186052066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr1:186052065_186052066insA	ENST00000271588.4	+	57	9085_9086	c.8856_8857insA	c.(8857-8859)aaafs	p.K2953fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K2953fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2953	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGAGTGCCAAAAAATATTT	0.351																																					p.A2952fs		Atlas-Indel,Pindel	.											.,1	HMCN1	797	.	0			c.8856_8857insA						.																																			SO:0001589	frameshift_variant	83872	exon57			.	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8862dupA	chr1.hg19:g.186052071_186052071dupA	ENSP00000271588:p.Lys2953fs	173.0	0.0		435.0	50.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	ENST00000271588.4	hg19	CCDS30956.1																																																																																			.	.		0.351	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
KANSL1	284058	hgsc.bcm.edu	37	17	44128014	44128015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr17:44128014_44128015insA	ENST00000262419.6	-	7	2374_2375	c.1904_1905insT	c.(1903-1905)ctgfs	p.L635fs	KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.L635fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.L635fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.L635fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.L635fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	635					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTGAACCACACAGTGCGCAGGA	0.49																																					p.L635fs		Atlas-Indel,Pindel	.											.	.	.	.	0			c.1905_1906insT						.																																			SO:0001589	frameshift_variant	284058	exon7			.	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1905dupT	chr17.hg19:g.44128015_44128015dupA	ENSP00000262419:p.Leu635fs	92.0	0.0		76.0	28.0	NM_001193466	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	ENST00000262419.6	hg19	CCDS11503.1																																																																																			.	.		0.490	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	
CASP10	843	hgsc.bcm.edu	37	2	202074072	202074072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr2:202074072delG	ENST00000272879.5	+	9	1386	c.1202delG	c.(1201-1203)tgcfs	p.C401fs	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Frame_Shift_Del_p.C358fs|CASP10_ENST00000313728.7_Frame_Shift_Del_p.C334fs|CASP10_ENST00000346817.5_Frame_Shift_Del_p.C358fs|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000286186.6_Frame_Shift_Del_p.C401fs	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	401					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATCCAGGCCTGCCAAGGTGAA	0.537																																					p.C401fs		Atlas-Indel,Pindel	.											.	CASP10	95	.	0			c.1201delT						.						75.0	69.0	71.0					2																	202074072		2203	4300	6503	SO:0001589	frameshift_variant	843	exon9			.	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1202delG	chr2.hg19:g.202074072delG	ENSP00000272879:p.Cys401fs	88.0	0.0		72.0	20.0	NM_032977	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Del	DEL	ENST00000272879.5	hg19	CCDS2338.1																																																																																			.	.		0.537	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
LRRIQ1	84125	hgsc.bcm.edu	37	12	85450034	85450035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr12:85450034_85450035insA	ENST00000393217.2	+	8	1524_1525	c.1463_1464insA	c.(1462-1467)gcaaaafs	p.AK488fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	488										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAACCTAGCAAAAAAACGAT	0.277																																					p.A488fs		Atlas-Indel,Pindel	.											.,4	LRRIQ1	512	.	0			c.1463_1464insA						.																																			SO:0001589	frameshift_variant	84125	exon8			.	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1470dupA	chr12.hg19:g.85450041_85450041dupA	ENSP00000376910:p.Ala488fs	287.0	0.0		280.0	114.0	NM_001079910	Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	ENST00000393217.2	hg19	CCDS41816.1																																																																																			.	.		0.277	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
DYX1C1	161582	hgsc.bcm.edu	37	15	55727133	55727134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2Y-A9GU-01A-11D-A382-10	TCGA-2Y-A9GU-10A-01D-A385-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	263e7d45-46a8-4d9d-a82a-0324d7f9a3ff	745978d5-14c9-407e-9db8-1a158a071ae7	g.chr15:55727133_55727134insT	ENST00000321149.3	-	8	1383_1384	c.1016_1017insA	c.(1015-1017)aacfs	p.N339fs	DYX1C1_ENST00000448430.2_Frame_Shift_Ins_p.N339fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Frame_Shift_Ins_p.N339fs|DYX1C1_ENST00000457155.2_Frame_Shift_Ins_p.N339fs|DYX1C1_ENST00000380679.1_Frame_Shift_Ins_p.N339fs	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	339					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CCTTGTGTAAGTTTTTTAGTTT	0.312																																					p.N339fs		Atlas-Indel,Pindel	.											.	DYX1C1	54	.	0			c.1017_1018insA						.																																			SO:0001589	frameshift_variant	161582	exon8			.		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1017dupA	chr15.hg19:g.55727139_55727139dupT	ENSP00000323275:p.Asn339fs	144.0	0.0		86.0	20.0	NM_001033560	Q6P5Y9|Q8N1S6	Frame_Shift_Ins	INS	ENST00000321149.3	hg19	CCDS10154.1																																																																																			.	.		0.312	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	
